{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372482070", "communityStandardTitle": [ "NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061239[alleleid]", "alleleId": 1061239, "preferredName": "NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069886", "RCV": [ "RCV001381862" ], "variationId": 1069886 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.144991571G>A?assembly=hg19", "id": "chr8:g.144991571G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143917403G>A?assembly=hg38", "id": "chr8:g.143917403G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554671979", "rs": 1554671979 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-144991571-G-A?dataset=gnomad_r2_1", "id": "8-144991571-G-A", "variant": "8:144991571 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143917403-G-A?dataset=gnomad_r4", "id": "8-143917403-G-A", "variant": "8:143917403 G / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 143917403, "referenceAllele": "G", "start": 143917402 } ], "hgvs": [ "NC_000008.11:g.143917403G>A", "CM000670.2:g.143917403G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 144991571, "referenceAllele": "G", "start": 144991570 } ], "hgvs": [ "NC_000008.10:g.144991571G>A", "CM000670.1:g.144991571G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 145063559, "referenceAllele": "G", "start": 145063558 } ], "hgvs": [ "NC_000008.9:g.145063559G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 64343, "referenceAllele": "C", "start": 64342 } ], "hgvs": [ "NG_012492.1:g.64343C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 12556, "referenceAllele": "C", "start": 12555 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.12550C>T" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Arg4184Ter", "hgvsWellDefined": "ENSP00000437303.2:p.Arg4184_Ala4591delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "T", "end": 12511, "referenceAllele": "C", "start": 12510 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.12469C>T" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Arg4157Ter", "hgvsWellDefined": "ENSP00000510528.1:p.Arg4157_Ala4564delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "T", "end": 12469, "referenceAllele": "C", "start": 12468 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.12136C>T" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Arg4046Ter", "hgvsWellDefined": "ENSP00000510788.1:p.Arg4046_Ala4453delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "T", "end": 12362, "referenceAllele": "C", "start": 12361 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.12349C>T" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Arg4117Ter", "hgvsWellDefined": "ENSP00000510329.1:p.Arg4117_Ala4524delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "T", "end": 12554, "referenceAllele": "C", "start": 12553 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.12418C>T" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg4140Ter", "hgvsWellDefined": "ENSP00000344848.3:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.12418C>T" }, "RefSeq": { "hgvs": "NM_201384.3:c.12418C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg4140Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg4140Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 9156, "referenceAllele": "C", "start": 9155 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.9118C>T" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:p.Arg3040Ter", "hgvsWellDefined": "ENSP00000433982.2:p.Arg3040_Ala3447delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "T", "end": 12999, "referenceAllele": "C", "start": 12998 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.12829C>T" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Arg4277Ter", "hgvsWellDefined": "ENSP00000323856.4:p.Arg4277_Ala4684delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "T", "end": 12547, "referenceAllele": "C", "start": 12546 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.12418C>T" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg4140Ter", "hgvsWellDefined": "ENSP00000344848.3:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "T", "end": 12486, "referenceAllele": "C", "start": 12485 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.12418C>T" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Arg4140Ter", "hgvsWellDefined": "ENSP00000346602.3:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "T", "end": 12501, "referenceAllele": "C", "start": 12500 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.12352C>T" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Arg4118Ter", "hgvsWellDefined": "ENSP00000347044.2:p.Arg4118_Ala4525delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "T", "end": 12433, "referenceAllele": "C", "start": 12432 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.12376C>T" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Arg4126Ter", "hgvsWellDefined": "ENSP00000348702.3:p.Arg4126_Ala4533delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.12376C>T" }, "RefSeq": { "hgvs": "NM_201378.4:c.12376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg4126Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg4126Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 12439, "referenceAllele": "C", "start": 12438 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.12430C>T" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Arg4144Ter", "hgvsWellDefined": "ENSP00000350277.2:p.Arg4144_Ala4551delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "T", "end": 12396, "referenceAllele": "C", "start": 12395 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.12322C>T" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Arg4108Ter", "hgvsWellDefined": "ENSP00000381756.2:p.Arg4108_Ala4515delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "T", "end": 12537, "referenceAllele": "C", "start": 12536 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.12499C>T" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Arg4167Ter", "hgvsWellDefined": "ENSP00000388180.2:p.Arg4167_Ala4574delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "T", "end": 12487, "referenceAllele": "C", "start": 12486 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.12487C>T" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Arg4163Ter", "hgvsWellDefined": "ENSP00000434583.1:p.Arg4163_Ala4570delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "@id": "http://reg.genome.network/allele/PA2825176553", "coordinates": [ { "allele": "T", "end": 12548, "referenceAllele": "C", "start": 12547 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.12499C>T" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg4167Ter", "hgvsWellDefined": "NP_000436.2:p.Arg4167_Ala4574delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830481389", "coordinates": [ { "allele": "T", "end": 12433, "referenceAllele": "C", "start": 12432 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.12376C>T" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg4126Ter", "hgvsWellDefined": "NP_958780.1:p.Arg4126_Ala4533delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830487633", "coordinates": [ { "allele": "T", "end": 12501, "referenceAllele": "C", "start": 12500 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.12352C>T" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg4118Ter", "hgvsWellDefined": "NP_958781.1:p.Arg4118_Ala4525delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA2499304929", "coordinates": [ { "allele": "T", "end": 12999, "referenceAllele": "C", "start": 12998 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.12829C>T" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg4277Ter", "hgvsWellDefined": "NP_958782.1:p.Arg4277_Ala4684delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830494023", "coordinates": [ { "allele": "T", "end": 12396, "referenceAllele": "C", "start": 12395 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.12322C>T" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg4108Ter", "hgvsWellDefined": "NP_958783.1:p.Arg4108_Ala4515delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830498659", "coordinates": [ { "allele": "T", "end": 12486, "referenceAllele": "C", "start": 12485 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.12418C>T" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg4140Ter", "hgvsWellDefined": "NP_958784.1:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830503270", "coordinates": [ { "allele": "T", "end": 12439, "referenceAllele": "C", "start": 12438 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.12430C>T" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg4144Ter", "hgvsWellDefined": "NP_958785.1:p.Arg4144_Ala4551delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830507904", "coordinates": [ { "allele": "T", "end": 12547, "referenceAllele": "C", "start": 12546 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.12418C>T" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg4140Ter", "hgvsWellDefined": "NP_958786.1:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "T", "end": 12947, "referenceAllele": "C", "start": 12946 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.12844C>T" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg4282Ter", "hgvsWellDefined": "XP_005251033.1:p.Arg4282_Ala4689delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "T", "end": 12547, "referenceAllele": "C", "start": 12546 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.12445C>T" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg4149Ter", "hgvsWellDefined": "XP_005251035.1:p.Arg4149_Ala4556delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "T", "end": 12490, "referenceAllele": "C", "start": 12489 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.12433C>T" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg4145Ter", "hgvsWellDefined": "XP_005251036.1:p.Arg4145_Ala4552delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "T", "end": 12580, "referenceAllele": "C", "start": 12579 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.12433C>T" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg4145Ter", "hgvsWellDefined": "XP_005251037.1:p.Arg4145_Ala4552delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "T", "end": 12433, "referenceAllele": "C", "start": 12432 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.12391C>T" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg4131Ter", "hgvsWellDefined": "XP_005251038.1:p.Arg4131_Ala4538delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "T", "end": 12432, "referenceAllele": "C", "start": 12431 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.12367C>T" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg4123Ter", "hgvsWellDefined": "XP_005251039.1:p.Arg4123_Ala4530delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "T", "end": 12364, "referenceAllele": "C", "start": 12363 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.12349C>T" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Arg4117Ter", "hgvsWellDefined": "XP_005251040.1:p.Arg4117_Ala4524delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "T", "end": 12423, "referenceAllele": "C", "start": 12422 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.12337C>T" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg4113Ter", "hgvsWellDefined": "XP_005251041.1:p.Arg4113_Ala4520delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "T", "end": 12610, "referenceAllele": "C", "start": 12609 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.12514C>T" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg4172Ter", "hgvsWellDefined": "XP_006716651.1:p.Arg4172_Ala4579delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "T", "end": 12379, "referenceAllele": "C", "start": 12378 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.12364C>T" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Arg4122Ter", "hgvsWellDefined": "XP_006716652.1:p.Arg4122_Ala4529delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "T", "end": 12379, "referenceAllele": "C", "start": 12378 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.12364C>T" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg4122Ter", "hgvsWellDefined": "XP_006716653.1:p.Arg4122_Ala4529delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "T", "end": 12535, "referenceAllele": "C", "start": 12534 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.12433C>T" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg4145Ter", "hgvsWellDefined": "XP_011515432.1:p.Arg4145_Ala4552delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "T", "end": 12364, "referenceAllele": "C", "start": 12363 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.12349C>T" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg4117Ter", "hgvsWellDefined": "XP_011515433.1:p.Arg4117_Ala4524delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "T", "end": 9159, "referenceAllele": "C", "start": 9158 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.9064C>T" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Arg3022Ter", "hgvsWellDefined": "XP_011515434.1:p.Arg3022_Ala3429delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "T", "end": 13040, "referenceAllele": "C", "start": 13039 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.12844C>T" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg4282Ter", "hgvsWellDefined": "XP_005251033.1:p.Arg4282_Ala4689delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "T", "end": 12566, "referenceAllele": "C", "start": 12565 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.12445C>T" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg4149Ter", "hgvsWellDefined": "XP_005251035.1:p.Arg4149_Ala4556delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "T", "end": 12525, "referenceAllele": "C", "start": 12524 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.12433C>T" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg4145Ter", "hgvsWellDefined": "XP_005251036.1:p.Arg4145_Ala4552delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "T", "end": 12610, "referenceAllele": "C", "start": 12609 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.12433C>T" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg4145Ter", "hgvsWellDefined": "XP_005251037.1:p.Arg4145_Ala4552delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "T", "end": 12447, "referenceAllele": "C", "start": 12446 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.12391C>T" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg4131Ter", "hgvsWellDefined": "XP_005251038.1:p.Arg4131_Ala4538delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "T", "end": 12436, "referenceAllele": "C", "start": 12435 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.12367C>T" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg4123Ter", "hgvsWellDefined": "XP_005251039.1:p.Arg4123_Ala4530delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "T", "end": 13844, "referenceAllele": "C", "start": 13843 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.12337C>T" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg4113Ter", "hgvsWellDefined": "XP_005251041.1:p.Arg4113_Ala4520delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "T", "end": 12618, "referenceAllele": "C", "start": 12617 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.12514C>T" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg4172Ter", "hgvsWellDefined": "XP_006716651.1:p.Arg4172_Ala4579delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "T", "end": 12489, "referenceAllele": "C", "start": 12488 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.12364C>T" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg4122Ter", "hgvsWellDefined": "XP_006716653.1:p.Arg4122_Ala4529delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "T", "end": 12554, "referenceAllele": "C", "start": 12553 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.12433C>T" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg4145Ter", "hgvsWellDefined": "XP_011515432.1:p.Arg4145_Ala4552delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "T", "end": 12473, "referenceAllele": "C", "start": 12472 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.12349C>T" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg4117Ter", "hgvsWellDefined": "XP_011515433.1:p.Arg4117_Ala4524delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "T", "end": 9181, "referenceAllele": "C", "start": 9180 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.9064C>T" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Arg3022Ter", "hgvsWellDefined": "XP_011515434.1:p.Arg3022_Ala3429delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825176553", "coordinates": [ { "allele": "T", "end": 12548, "referenceAllele": "C", "start": 12547 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.12499C>T" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg4167Ter", "hgvsWellDefined": "NP_000436.2:p.Arg4167_Ala4574delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830481389", "coordinates": [ { "allele": "T", "end": 12433, "referenceAllele": "C", "start": 12432 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.12376C>T" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg4126Ter", "hgvsWellDefined": "NP_958780.1:p.Arg4126_Ala4533delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.12376C>T" }, "RefSeq": { "hgvs": "NM_201378.4:c.12376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg4126Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg4126Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830487633", "coordinates": [ { "allele": "T", "end": 12415, "referenceAllele": "C", "start": 12414 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.12352C>T" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg4118Ter", "hgvsWellDefined": "NP_958781.1:p.Arg4118_Ala4525delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA2499304929", "coordinates": [ { "allele": "T", "end": 13049, "referenceAllele": "C", "start": 13048 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.12829C>T" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg4277Ter", "hgvsWellDefined": "NP_958782.1:p.Arg4277_Ala4684delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830494023", "coordinates": [ { "allele": "T", "end": 12429, "referenceAllele": "C", "start": 12428 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.12322C>T" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg4108Ter", "hgvsWellDefined": "NP_958783.1:p.Arg4108_Ala4515delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830498659", "coordinates": [ { "allele": "T", "end": 12513, "referenceAllele": "C", "start": 12512 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.12418C>T" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg4140Ter", "hgvsWellDefined": "NP_958784.1:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830503270", "coordinates": [ { "allele": "T", "end": 12539, "referenceAllele": "C", "start": 12538 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.12430C>T" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg4144Ter", "hgvsWellDefined": "NP_958785.1:p.Arg4144_Ala4551delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830507904", "coordinates": [ { "allele": "T", "end": 12554, "referenceAllele": "C", "start": 12553 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.12418C>T" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg4140Ter", "hgvsWellDefined": "NP_958786.1:p.Arg4140_Ala4547delinsValValIleValAspProGluThrGlyLysGluMetSerValTyrGluAlaTyrArgLysGlyLeuIleAspHisGlnThrTyrLeuGluLeuSerGluGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.12418C>T" }, "RefSeq": { "hgvs": "NM_201384.3:c.12418C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg4140Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg4140Ter" } } } } ], "type": "nucleotide" }