{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372485322", "communityStandardTitle": [ "NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3105433[alleleid]", "alleleId": 3105433, "preferredName": "NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2946959", "RCV": [ "RCV003801149" ], "variationId": 2946959 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.144991788G>C?assembly=hg19", "id": "chr8:g.144991788G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143917620G>C?assembly=hg38", "id": "chr8:g.143917620G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1586765219", "rs": 1586765219 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 143917620, "referenceAllele": "G", "start": 143917619 } ], "hgvs": [ "NC_000008.11:g.143917620G>C", "CM000670.2:g.143917620G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 144991788, "referenceAllele": "G", "start": 144991787 } ], "hgvs": [ "NC_000008.10:g.144991788G>C", "CM000670.1:g.144991788G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 145063776, "referenceAllele": "G", "start": 145063775 } ], "hgvs": [ "NC_000008.9:g.145063776G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "G", "end": 64126, "referenceAllele": "C", "start": 64125 } ], "hgvs": [ "NG_012492.1:g.64126C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 12339, "referenceAllele": "C", "start": 12338 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.12333C>G" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Tyr4111Ter", "hgvsWellDefined": "ENSP00000437303.2:p.Tyr4111_Ala4591delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "G", "end": 12294, "referenceAllele": "C", "start": 12293 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.12252C>G" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Tyr4084Ter", "hgvsWellDefined": "ENSP00000510528.1:p.Tyr4084_Ala4564delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "G", "end": 12252, "referenceAllele": "C", "start": 12251 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.11919C>G" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Tyr3973Ter", "hgvsWellDefined": "ENSP00000510788.1:p.Tyr3973_Ala4453delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "G", "end": 12145, "referenceAllele": "C", "start": 12144 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.12132C>G" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Tyr4044Ter", "hgvsWellDefined": "ENSP00000510329.1:p.Tyr4044_Ala4524delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "G", "end": 12337, "referenceAllele": "C", "start": 12336 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.12201C>G" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Tyr4067Ter", "hgvsWellDefined": "ENSP00000344848.3:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.12201C>G" }, "RefSeq": { "hgvs": "NM_201384.3:c.12201C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Tyr4067Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Tyr4067Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 8939, "referenceAllele": "C", "start": 8938 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.8901C>G" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:p.Tyr2967Ter", "hgvsWellDefined": "ENSP00000433982.2:p.Tyr2967_Ala3447delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "G", "end": 12782, "referenceAllele": "C", "start": 12781 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.12612C>G" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Tyr4204Ter", "hgvsWellDefined": "ENSP00000323856.4:p.Tyr4204_Ala4684delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "G", "end": 12330, "referenceAllele": "C", "start": 12329 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.12201C>G" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Tyr4067Ter", "hgvsWellDefined": "ENSP00000344848.3:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "G", "end": 12269, "referenceAllele": "C", "start": 12268 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.12201C>G" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Tyr4067Ter", "hgvsWellDefined": "ENSP00000346602.3:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "G", "end": 12284, "referenceAllele": "C", "start": 12283 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.12135C>G" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Tyr4045Ter", "hgvsWellDefined": "ENSP00000347044.2:p.Tyr4045_Ala4525delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "G", "end": 12216, "referenceAllele": "C", "start": 12215 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.12159C>G" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Tyr4053Ter", "hgvsWellDefined": "ENSP00000348702.3:p.Tyr4053_Ala4533delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.12159C>G" }, "RefSeq": { "hgvs": "NM_201378.4:c.12159C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Tyr4053Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Tyr4053Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 12222, "referenceAllele": "C", "start": 12221 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.12213C>G" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Tyr4071Ter", "hgvsWellDefined": "ENSP00000350277.2:p.Tyr4071_Ala4551delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "G", "end": 12179, "referenceAllele": "C", "start": 12178 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.12105C>G" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Tyr4035Ter", "hgvsWellDefined": "ENSP00000381756.2:p.Tyr4035_Ala4515delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "G", "end": 12320, "referenceAllele": "C", "start": 12319 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.12282C>G" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Tyr4094Ter", "hgvsWellDefined": "ENSP00000388180.2:p.Tyr4094_Ala4574delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "G", "end": 12270, "referenceAllele": "C", "start": 12269 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.12270C>G" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Tyr4090Ter", "hgvsWellDefined": "ENSP00000434583.1:p.Tyr4090_Ala4570delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "@id": "http://reg.genome.network/allele/PA2825176491", "coordinates": [ { "allele": "G", "end": 12331, "referenceAllele": "C", "start": 12330 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.12282C>G" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Tyr4094Ter", "hgvsWellDefined": "NP_000436.2:p.Tyr4094_Ala4574delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830481299", "coordinates": [ { "allele": "G", "end": 12216, "referenceAllele": "C", "start": 12215 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.12159C>G" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Tyr4053Ter", "hgvsWellDefined": "NP_958780.1:p.Tyr4053_Ala4533delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830487571", "coordinates": [ { "allele": "G", "end": 12284, "referenceAllele": "C", "start": 12283 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.12135C>G" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Tyr4045Ter", "hgvsWellDefined": "NP_958781.1:p.Tyr4045_Ala4525delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA2742036230", "coordinates": [ { "allele": "G", "end": 12782, "referenceAllele": "C", "start": 12781 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.12612C>G" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Tyr4204Ter", "hgvsWellDefined": "NP_958782.1:p.Tyr4204_Ala4684delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830493961", "coordinates": [ { "allele": "G", "end": 12179, "referenceAllele": "C", "start": 12178 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.12105C>G" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Tyr4035Ter", "hgvsWellDefined": "NP_958783.1:p.Tyr4035_Ala4515delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830498597", "coordinates": [ { "allele": "G", "end": 12269, "referenceAllele": "C", "start": 12268 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.12201C>G" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Tyr4067Ter", "hgvsWellDefined": "NP_958784.1:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830503208", "coordinates": [ { "allele": "G", "end": 12222, "referenceAllele": "C", "start": 12221 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.12213C>G" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Tyr4071Ter", "hgvsWellDefined": "NP_958785.1:p.Tyr4071_Ala4551delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830507842", "coordinates": [ { "allele": "G", "end": 12330, "referenceAllele": "C", "start": 12329 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.12201C>G" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Tyr4067Ter", "hgvsWellDefined": "NP_958786.1:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "G", "end": 12730, "referenceAllele": "C", "start": 12729 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.12627C>G" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Tyr4209Ter", "hgvsWellDefined": "XP_005251033.1:p.Tyr4209_Ala4689delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "G", "end": 12330, "referenceAllele": "C", "start": 12329 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.12228C>G" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Tyr4076Ter", "hgvsWellDefined": "XP_005251035.1:p.Tyr4076_Ala4556delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "G", "end": 12273, "referenceAllele": "C", "start": 12272 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.12216C>G" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Tyr4072Ter", "hgvsWellDefined": "XP_005251036.1:p.Tyr4072_Ala4552delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "G", "end": 12363, "referenceAllele": "C", "start": 12362 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.12216C>G" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Tyr4072Ter", "hgvsWellDefined": "XP_005251037.1:p.Tyr4072_Ala4552delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "G", "end": 12216, "referenceAllele": "C", "start": 12215 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.12174C>G" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Tyr4058Ter", "hgvsWellDefined": "XP_005251038.1:p.Tyr4058_Ala4538delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "G", "end": 12215, "referenceAllele": "C", "start": 12214 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.12150C>G" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Tyr4050Ter", "hgvsWellDefined": "XP_005251039.1:p.Tyr4050_Ala4530delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "G", "end": 12147, "referenceAllele": "C", "start": 12146 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.12132C>G" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Tyr4044Ter", "hgvsWellDefined": "XP_005251040.1:p.Tyr4044_Ala4524delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "G", "end": 12206, "referenceAllele": "C", "start": 12205 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.12120C>G" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Tyr4040Ter", "hgvsWellDefined": "XP_005251041.1:p.Tyr4040_Ala4520delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "G", "end": 12393, "referenceAllele": "C", "start": 12392 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.12297C>G" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Tyr4099Ter", "hgvsWellDefined": "XP_006716651.1:p.Tyr4099_Ala4579delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "G", "end": 12162, "referenceAllele": "C", "start": 12161 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.12147C>G" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Tyr4049Ter", "hgvsWellDefined": "XP_006716652.1:p.Tyr4049_Ala4529delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "G", "end": 12162, "referenceAllele": "C", "start": 12161 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.12147C>G" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Tyr4049Ter", "hgvsWellDefined": "XP_006716653.1:p.Tyr4049_Ala4529delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "G", "end": 12318, "referenceAllele": "C", "start": 12317 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.12216C>G" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Tyr4072Ter", "hgvsWellDefined": "XP_011515432.1:p.Tyr4072_Ala4552delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "G", "end": 12147, "referenceAllele": "C", "start": 12146 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.12132C>G" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Tyr4044Ter", "hgvsWellDefined": "XP_011515433.1:p.Tyr4044_Ala4524delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "G", "end": 8942, "referenceAllele": "C", "start": 8941 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.8847C>G" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Tyr2949Ter", "hgvsWellDefined": "XP_011515434.1:p.Tyr2949_Ala3429delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "G", "end": 12823, "referenceAllele": "C", "start": 12822 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.12627C>G" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Tyr4209Ter", "hgvsWellDefined": "XP_005251033.1:p.Tyr4209_Ala4689delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "G", "end": 12349, "referenceAllele": "C", "start": 12348 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.12228C>G" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Tyr4076Ter", "hgvsWellDefined": "XP_005251035.1:p.Tyr4076_Ala4556delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "G", "end": 12308, "referenceAllele": "C", "start": 12307 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.12216C>G" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Tyr4072Ter", "hgvsWellDefined": "XP_005251036.1:p.Tyr4072_Ala4552delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "G", "end": 12393, "referenceAllele": "C", "start": 12392 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.12216C>G" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Tyr4072Ter", "hgvsWellDefined": "XP_005251037.1:p.Tyr4072_Ala4552delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "G", "end": 12230, "referenceAllele": "C", "start": 12229 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.12174C>G" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Tyr4058Ter", "hgvsWellDefined": "XP_005251038.1:p.Tyr4058_Ala4538delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "G", "end": 12219, "referenceAllele": "C", "start": 12218 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.12150C>G" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Tyr4050Ter", "hgvsWellDefined": "XP_005251039.1:p.Tyr4050_Ala4530delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "G", "end": 13627, "referenceAllele": "C", "start": 13626 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.12120C>G" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Tyr4040Ter", "hgvsWellDefined": "XP_005251041.1:p.Tyr4040_Ala4520delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "G", "end": 12401, "referenceAllele": "C", "start": 12400 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.12297C>G" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Tyr4099Ter", "hgvsWellDefined": "XP_006716651.1:p.Tyr4099_Ala4579delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "G", "end": 12272, "referenceAllele": "C", "start": 12271 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.12147C>G" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Tyr4049Ter", "hgvsWellDefined": "XP_006716653.1:p.Tyr4049_Ala4529delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "G", "end": 12337, "referenceAllele": "C", "start": 12336 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.12216C>G" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Tyr4072Ter", "hgvsWellDefined": "XP_011515432.1:p.Tyr4072_Ala4552delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "G", "end": 12256, "referenceAllele": "C", "start": 12255 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.12132C>G" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Tyr4044Ter", "hgvsWellDefined": "XP_011515433.1:p.Tyr4044_Ala4524delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "G", "end": 8964, "referenceAllele": "C", "start": 8963 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.8847C>G" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Tyr2949Ter", "hgvsWellDefined": "XP_011515434.1:p.Tyr2949_Ala3429delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825176491", "coordinates": [ { "allele": "G", "end": 12331, "referenceAllele": "C", "start": 12330 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.12282C>G" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Tyr4094Ter", "hgvsWellDefined": "NP_000436.2:p.Tyr4094_Ala4574delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830481299", "coordinates": [ { "allele": "G", "end": 12216, "referenceAllele": "C", "start": 12215 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.12159C>G" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Tyr4053Ter", "hgvsWellDefined": "NP_958780.1:p.Tyr4053_Ala4533delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.12159C>G" }, "RefSeq": { "hgvs": "NM_201378.4:c.12159C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Tyr4053Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Tyr4053Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830487571", "coordinates": [ { "allele": "G", "end": 12198, "referenceAllele": "C", "start": 12197 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.12135C>G" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Tyr4045Ter", "hgvsWellDefined": "NP_958781.1:p.Tyr4045_Ala4525delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA2742036230", "coordinates": [ { "allele": "G", "end": 12832, "referenceAllele": "C", "start": 12831 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.12612C>G" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Tyr4204Ter", "hgvsWellDefined": "NP_958782.1:p.Tyr4204_Ala4684delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830493961", "coordinates": [ { "allele": "G", "end": 12212, "referenceAllele": "C", "start": 12211 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.12105C>G" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Tyr4035Ter", "hgvsWellDefined": "NP_958783.1:p.Tyr4035_Ala4515delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830498597", "coordinates": [ { "allele": "G", "end": 12296, "referenceAllele": "C", "start": 12295 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.12201C>G" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Tyr4067Ter", "hgvsWellDefined": "NP_958784.1:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830503208", "coordinates": [ { "allele": "G", "end": 12322, "referenceAllele": "C", "start": 12321 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.12213C>G" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Tyr4071Ter", "hgvsWellDefined": "NP_958785.1:p.Tyr4071_Ala4551delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830507842", "coordinates": [ { "allele": "G", "end": 12337, "referenceAllele": "C", "start": 12336 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.12201C>G" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Tyr4067Ter", "hgvsWellDefined": "NP_958786.1:p.Tyr4067_Ala4547delinsLysArgGlyLeuPheAspGluGluMetAsnGluIleLeuThrAspProSerAspAspThrLysGlyPhePheAspProAsnThrGluGluAsnLeuThrTyrLeuGlnLeuMetGluArgCysIleThrAspProGlnThrGlyLeuCysLeuLeuProLeuLysGluLysLysArgGluArgLysThrSerSerLysSerSerValArgLysArgArgValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.12201C>G" }, "RefSeq": { "hgvs": "NM_201384.3:c.12201C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Tyr4067Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Tyr4067Ter" } } } } ], "type": "nucleotide" }