{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8916873", "communityStandardTitle": [ "NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4697263", "active": true, "id": "COSM4697263" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4697264", "active": true, "id": "COSM4697264" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358561[alleleid]", "alleleId": 358561, "preferredName": "NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370076", "RCV": [ "RCV000411334", "RCV001861361", "RCV002248641", "RCV002282129" ], "variationId": 370076 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/18-21508112-C-T", "id": "18-21508112-C-T", "variant": "18:21508112 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.21508112C>T?assembly=hg19", "id": "chr18:g.21508112C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.23928148C>T?assembly=hg38", "id": "chr18:g.23928148C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/774133746", "rs": 774133746 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-21508112-C-T?dataset=gnomad_r2_1", "id": "18-21508112-C-T", "variant": "18:21508112 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-23928148-C-T?dataset=gnomad_r3", "id": "18-23928148-C-T", "variant": "18:23928148 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-23928148-C-T?dataset=gnomad_r4", "id": "18-23928148-C-T", "variant": "18:23928148 C / T" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 23928148, "referenceAllele": "C", "start": 23928147 } ], "hgvs": [ "NC_000018.10:g.23928148C>T", "CM000680.2:g.23928148C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 21508112, "referenceAllele": "C", "start": 21508111 } ], "hgvs": [ "NC_000018.9:g.21508112C>T", "CM000680.1:g.21508112C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 19762110, "referenceAllele": "C", "start": 19762109 } ], "hgvs": [ "NC_000018.8:g.19762110C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 243551, "referenceAllele": "C", "start": 243550 } ], "hgvs": [ "NG_007853.2:g.243551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000677" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3401, "referenceAllele": "C", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000269217.11:c.3376C>T" ], "proteinEffect": { "hgvs": "ENSP00000269217.5:p.Arg1126Ter", "hgvsWellDefined": "ENSP00000269217.5:p.Arg1126_Gln1724delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743099", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269217.11:c.3376C>T" }, "RefSeq": { "hgvs": "NM_000227.6:c.3376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269217.5:p.Arg1126Ter" }, "RefSeq": { "hgvs": "NP_000218.3:p.Arg1126Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 8434, "referenceAllele": "C", "start": 8433 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000313654.14:c.8203C>T" ], "proteinEffect": { "hgvs": "ENSP00000324532.8:p.Arg2735Ter", "hgvsWellDefined": "ENSP00000324532.8:p.Arg2735_Gln3333delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313654.14:c.8203C>T" }, "RefSeq": { "hgvs": "NM_198129.4:c.8203C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324532.8:p.Arg2735Ter" }, "RefSeq": { "hgvs": "NP_937762.2:p.Arg2735Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4798, "referenceAllele": "C", "start": 4797 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000649721.1:c.4798C>T" ], "proteinEffect": { "hgvs": "ENSP00000497885.1:p.Arg1600Ter", "hgvsWellDefined": "ENSP00000497885.1:p.Arg1600_Gln2198delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770702" }, { "coordinates": [ { "allele": "T", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000269217.10:c.3376C>T" ], "proteinEffect": { "hgvs": "ENSP00000269217.5:p.Arg1126Ter", "hgvsWellDefined": "ENSP00000269217.5:p.Arg1126_Gln1724delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252151" }, { "coordinates": [ { "allele": "T", "end": 8444, "referenceAllele": "C", "start": 8443 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000313654.13:c.8203C>T" ], "proteinEffect": { "hgvs": "ENSP00000324532.8:p.Arg2735Ter", "hgvsWellDefined": "ENSP00000324532.8:p.Arg2735_Gln3333delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256849" }, { "coordinates": [ { "allele": "T", "end": 8035, "referenceAllele": "C", "start": 8034 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000399516.7:c.8035C>T" ], "proteinEffect": { "hgvs": "ENSP00000382432.2:p.Arg2679Ter", "hgvsWellDefined": "ENSP00000382432.2:p.Arg2679_Gln3277delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278706" }, { "coordinates": [ { "allele": "T", "end": 2981, "referenceAllele": "C", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000586751.5:c.2981C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389612" }, { "coordinates": [ { "allele": "T", "end": 3208, "referenceAllele": "C", "start": 3207 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000587184.5:c.3208C>T" ], "proteinEffect": { "hgvs": "ENSP00000466557.1:p.Arg1070Ter", "hgvsWellDefined": "ENSP00000466557.1:p.Arg1070_Gln1668delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS389901" }, { "coordinates": [ { "allele": "T", "end": 2781, "referenceAllele": "C", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000588770.5:n.2781C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391016" }, { "@id": "http://reg.genome.network/allele/PA2825093986", "coordinates": [ { "allele": "T", "end": 3401, "referenceAllele": "C", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.4:c.3376C>T" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Arg1126Ter", "hgvsWellDefined": "NP_000218.3:p.Arg1126_Gln1724delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006290" }, { "@id": "http://reg.genome.network/allele/PA2825659484", "coordinates": [ { "allele": "T", "end": 8276, "referenceAllele": "C", "start": 8275 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.2:c.8035C>T" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Arg2679Ter", "hgvsWellDefined": "NP_001121189.2:p.Arg2679_Gln3277delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011698" }, { "@id": "http://reg.genome.network/allele/PA2825660316", "coordinates": [ { "allele": "T", "end": 3233, "referenceAllele": "C", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.2:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Arg1070Ter", "hgvsWellDefined": "NP_001121190.2:p.Arg1070_Gln1668delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011699" }, { "@id": "http://reg.genome.network/allele/PA645484155", "coordinates": [ { "allele": "T", "end": 8444, "referenceAllele": "C", "start": 8443 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.2:c.8203C>T" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Arg2735Ter", "hgvsWellDefined": "NP_937762.2:p.Arg2735_Gln3333delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044433" }, { "coordinates": [ { "allele": "T", "end": 8471, "referenceAllele": "C", "start": 8470 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525978.1:c.8230C>T" ], "proteinEffect": { "hgvs": "XP_011524280.1:p.Arg2744Ter", "hgvsWellDefined": "XP_011524280.1:p.Arg2744_Gln3342delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093086" }, { "coordinates": [ { "allele": "T", "end": 8462, "referenceAllele": "C", "start": 8461 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525979.1:c.8221C>T" ], "proteinEffect": { "hgvs": "XP_011524281.1:p.Arg2741Ter", "hgvsWellDefined": "XP_011524281.1:p.Arg2741_Gln3339delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093087" }, { "coordinates": [ { "allele": "T", "end": 8453, "referenceAllele": "C", "start": 8452 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525980.1:c.8212C>T" ], "proteinEffect": { "hgvs": "XP_011524282.1:p.Arg2738Ter", "hgvsWellDefined": "XP_011524282.1:p.Arg2738_Gln3336delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093088" }, { "coordinates": [ { "allele": "T", "end": 8339, "referenceAllele": "C", "start": 8338 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525981.1:c.8098C>T" ], "proteinEffect": { "hgvs": "XP_011524283.1:p.Arg2700Ter", "hgvsWellDefined": "XP_011524283.1:p.Arg2700_Gln3298delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093089" }, { "coordinates": [ { "allele": "T", "end": 8174, "referenceAllele": "C", "start": 8173 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525982.1:c.7933C>T" ], "proteinEffect": { "hgvs": "XP_011524284.1:p.Arg2645Ter", "hgvsWellDefined": "XP_011524284.1:p.Arg2645_Gln3243delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093090" }, { "coordinates": [ { "allele": "T", "end": 8471, "referenceAllele": "C", "start": 8470 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525978.2:c.8230C>T" ], "proteinEffect": { "hgvs": "XP_011524280.1:p.Arg2744Ter", "hgvsWellDefined": "XP_011524280.1:p.Arg2744_Gln3342delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548087" }, { "coordinates": [ { "allele": "T", "end": 8462, "referenceAllele": "C", "start": 8461 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525979.2:c.8221C>T" ], "proteinEffect": { "hgvs": "XP_011524281.1:p.Arg2741Ter", "hgvsWellDefined": "XP_011524281.1:p.Arg2741_Gln3339delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548088" }, { "coordinates": [ { "allele": "T", "end": 8453, "referenceAllele": "C", "start": 8452 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525980.2:c.8212C>T" ], "proteinEffect": { "hgvs": "XP_011524282.1:p.Arg2738Ter", "hgvsWellDefined": "XP_011524282.1:p.Arg2738_Gln3336delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548089" }, { "coordinates": [ { "allele": "T", "end": 8339, "referenceAllele": "C", "start": 8338 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525981.2:c.8098C>T" ], "proteinEffect": { "hgvs": "XP_011524283.1:p.Arg2700Ter", "hgvsWellDefined": "XP_011524283.1:p.Arg2700_Gln3298delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548090" }, { "coordinates": [ { "allele": "T", "end": 8174, "referenceAllele": "C", "start": 8173 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525982.2:c.7933C>T" ], "proteinEffect": { "hgvs": "XP_011524284.1:p.Arg2645Ter", "hgvsWellDefined": "XP_011524284.1:p.Arg2645_Gln3243delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548091" }, { "coordinates": [ { "allele": "T", "end": 6155, "referenceAllele": "C", "start": 6154 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_017025743.1:c.6082C>T" ], "proteinEffect": { "hgvs": "XP_016881232.1:p.Arg2028Ter", "hgvsWellDefined": "XP_016881232.1:p.Arg2028_Gln2626delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576037" }, { "coordinates": [ { "allele": "T", "end": 4836, "referenceAllele": "C", "start": 4835 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_017025744.1:c.3772C>T" ], "proteinEffect": { "hgvs": "XP_016881233.1:p.Arg1258Ter", "hgvsWellDefined": "XP_016881233.1:p.Arg1258_Gln1856delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576038" }, { "coordinates": [ { "allele": "T", "end": 8471, "referenceAllele": "C", "start": 8470 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XR_001753199.1:n.8471C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599792" }, { "@id": "http://reg.genome.network/allele/PA2825093986", "coordinates": [ { "allele": "T", "end": 3401, "referenceAllele": "C", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.5:c.3376C>T" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Arg1126Ter", "hgvsWellDefined": "NP_000218.3:p.Arg1126_Gln1724delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674753" }, { "@id": "http://reg.genome.network/allele/PA2825659484", "coordinates": [ { "allele": "T", "end": 8266, "referenceAllele": "C", "start": 8265 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.3:c.8035C>T" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Arg2679Ter", "hgvsWellDefined": "NP_001121189.2:p.Arg2679_Gln3277delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676946" }, { "@id": "http://reg.genome.network/allele/PA2825660316", "coordinates": [ { "allele": "T", "end": 3233, "referenceAllele": "C", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.3:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Arg1070Ter", "hgvsWellDefined": "NP_001121190.2:p.Arg1070_Gln1668delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676947" }, { "@id": "http://reg.genome.network/allele/PA645484155", "coordinates": [ { "allele": "T", "end": 8434, "referenceAllele": "C", "start": 8433 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.3:c.8203C>T" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Arg2735Ter", "hgvsWellDefined": "NP_937762.2:p.Arg2735_Gln3333delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701253" }, { "@id": "http://reg.genome.network/allele/PA2825093986", "coordinates": [ { "allele": "T", "end": 3401, "referenceAllele": "C", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.6:c.3376C>T" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Arg1126Ter", "hgvsWellDefined": "NP_000218.3:p.Arg1126_Gln1724delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710810", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269217.11:c.3376C>T" }, "RefSeq": { "hgvs": "NM_000227.6:c.3376C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269217.5:p.Arg1126Ter" }, "RefSeq": { "hgvs": "NP_000218.3:p.Arg1126Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825659484", "coordinates": [ { "allele": "T", "end": 8266, "referenceAllele": "C", "start": 8265 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.4:c.8035C>T" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Arg2679Ter", "hgvsWellDefined": "NP_001121189.2:p.Arg2679_Gln3277delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712231" }, { "@id": "http://reg.genome.network/allele/PA2825660316", "coordinates": [ { "allele": "T", "end": 3233, "referenceAllele": "C", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.4:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Arg1070Ter", "hgvsWellDefined": "NP_001121190.2:p.Arg1070_Gln1668delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712232" }, { "@id": "http://reg.genome.network/allele/PA645484155", "coordinates": [ { "allele": "T", "end": 8434, "referenceAllele": "C", "start": 8433 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.4:c.8203C>T" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Arg2735Ter", "hgvsWellDefined": "NP_937762.2:p.Arg2735_Gln3333delinsGlyCysMetLysAsnLeuLysLysThrSerGlyValValArgLeuAsnAspThrValGlyValThrLysLysCysSerGluAspTrpLysLeuValArgSerAlaSerPheSerArgGlyGlyGlnLeuSerPheThrAspLeuGlyLeuProProThrAspHisLeuGlnAlaSerPheGlyPheGlnThrPheGlnProSerGlyIleLeuLeuAspHisGlnThrTrpThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729879", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313654.14:c.8203C>T" }, "RefSeq": { "hgvs": "NM_198129.4:c.8203C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324532.8:p.Arg2735Ter" }, "RefSeq": { "hgvs": "NP_937762.2:p.Arg2735Ter" } } } } ], "type": "nucleotide" }