{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041940", "communityStandardTitle": [ "NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358562[alleleid]", "alleleId": 358562, "preferredName": "NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370783", "RCV": [ "RCV000412371" ], "variationId": 370783 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.21508729G>A?assembly=hg19", "id": "chr18:g.21508729G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.23928765G>A?assembly=hg38", "id": "chr18:g.23928765G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516764", "rs": 1057516764 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 23928765, "referenceAllele": "G", "start": 23928764 } ], "hgvs": [ "NC_000018.10:g.23928765G>A", "CM000680.2:g.23928765G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 21508729, "referenceAllele": "G", "start": 21508728 } ], "hgvs": [ "NC_000018.9:g.21508729G>A", "CM000680.1:g.21508729G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 19762727, "referenceAllele": "G", "start": 19762726 } ], "hgvs": [ "NC_000018.8:g.19762727G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 244168, "referenceAllele": "G", "start": 244167 } ], "hgvs": [ "NG_007853.2:g.244168G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000677" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3634, "referenceAllele": "G", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000269217.11:c.3609G>A" ], "proteinEffect": { "hgvs": "ENSP00000269217.5:p.Trp1203Ter", "hgvsWellDefined": "ENSP00000269217.5:p.Trp1203_Gln1724delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743099", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269217.11:c.3609G>A" }, "RefSeq": { "hgvs": "NM_000227.6:c.3609G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269217.5:p.Trp1203Ter" }, "RefSeq": { "hgvs": "NP_000218.3:p.Trp1203Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 8667, "referenceAllele": "G", "start": 8666 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000313654.14:c.8436G>A" ], "proteinEffect": { "hgvs": "ENSP00000324532.8:p.Trp2812Ter", "hgvsWellDefined": "ENSP00000324532.8:p.Trp2812_Gln3333delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313654.14:c.8436G>A" }, "RefSeq": { "hgvs": "NM_198129.4:c.8436G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324532.8:p.Trp2812Ter" }, "RefSeq": { "hgvs": "NP_937762.2:p.Trp2812Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 5031, "referenceAllele": "G", "start": 5030 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000649721.1:c.5031G>A" ], "proteinEffect": { "hgvs": "ENSP00000497885.1:p.Trp1677Ter", "hgvsWellDefined": "ENSP00000497885.1:p.Trp1677_Gln2198delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770702" }, { "coordinates": [ { "allele": "A", "end": 3814, "referenceAllele": "G", "start": 3813 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000269217.10:c.3609G>A" ], "proteinEffect": { "hgvs": "ENSP00000269217.5:p.Trp1203Ter", "hgvsWellDefined": "ENSP00000269217.5:p.Trp1203_Gln1724delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252151" }, { "coordinates": [ { "allele": "A", "end": 8677, "referenceAllele": "G", "start": 8676 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000313654.13:c.8436G>A" ], "proteinEffect": { "hgvs": "ENSP00000324532.8:p.Trp2812Ter", "hgvsWellDefined": "ENSP00000324532.8:p.Trp2812_Gln3333delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256849" }, { "coordinates": [ { "allele": "A", "end": 8268, "referenceAllele": "G", "start": 8267 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000399516.7:c.8268G>A" ], "proteinEffect": { "hgvs": "ENSP00000382432.2:p.Trp2756Ter", "hgvsWellDefined": "ENSP00000382432.2:p.Trp2756_Gln3277delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278706" }, { "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000586751.5:c.3214G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389612" }, { "coordinates": [ { "allele": "A", "end": 3441, "referenceAllele": "G", "start": 3440 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000587184.5:c.3441G>A" ], "proteinEffect": { "hgvs": "ENSP00000466557.1:p.Trp1147Ter", "hgvsWellDefined": "ENSP00000466557.1:p.Trp1147_Gln1668delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS389901" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000588164.2:c.141G>A" ], "proteinEffect": { "hgvs": "ENSP00000467473.2:p.Trp47Ter", "hgvsWellDefined": "ENSP00000467473.2:p.Trp47_Gly94delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS390591" }, { "coordinates": [ { "allele": "A", "end": 3014, "referenceAllele": "G", "start": 3013 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "ENST00000588770.5:n.3014G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391016" }, { "@id": "http://reg.genome.network/allele/PA2825094040", "coordinates": [ { "allele": "A", "end": 3634, "referenceAllele": "G", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.4:c.3609G>A" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Trp1203Ter", "hgvsWellDefined": "NP_000218.3:p.Trp1203_Gln1724delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006290" }, { "@id": "http://reg.genome.network/allele/PA2825659527", "coordinates": [ { "allele": "A", "end": 8509, "referenceAllele": "G", "start": 8508 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.2:c.8268G>A" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Trp2756Ter", "hgvsWellDefined": "NP_001121189.2:p.Trp2756_Gln3277delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011698" }, { "@id": "http://reg.genome.network/allele/PA2825660360", "coordinates": [ { "allele": "A", "end": 3466, "referenceAllele": "G", "start": 3465 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.2:c.3441G>A" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Trp1147Ter", "hgvsWellDefined": "NP_001121190.2:p.Trp1147_Gln1668delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011699" }, { "@id": "http://reg.genome.network/allele/PA645484168", "coordinates": [ { "allele": "A", "end": 8677, "referenceAllele": "G", "start": 8676 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.2:c.8436G>A" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Trp2812Ter", "hgvsWellDefined": "NP_937762.2:p.Trp2812_Gln3333delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044433" }, { "coordinates": [ { "allele": "A", "end": 8704, "referenceAllele": "G", "start": 8703 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525978.1:c.8463G>A" ], "proteinEffect": { "hgvs": "XP_011524280.1:p.Trp2821Ter", "hgvsWellDefined": "XP_011524280.1:p.Trp2821_Gln3342delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093086" }, { "coordinates": [ { "allele": "A", "end": 8695, "referenceAllele": "G", "start": 8694 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525979.1:c.8454G>A" ], "proteinEffect": { "hgvs": "XP_011524281.1:p.Trp2818Ter", "hgvsWellDefined": "XP_011524281.1:p.Trp2818_Gln3339delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093087" }, { "coordinates": [ { "allele": "A", "end": 8686, "referenceAllele": "G", "start": 8685 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525980.1:c.8445G>A" ], "proteinEffect": { "hgvs": "XP_011524282.1:p.Trp2815Ter", "hgvsWellDefined": "XP_011524282.1:p.Trp2815_Gln3336delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093088" }, { "coordinates": [ { "allele": "A", "end": 8572, "referenceAllele": "G", "start": 8571 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525981.1:c.8331G>A" ], "proteinEffect": { "hgvs": "XP_011524283.1:p.Trp2777Ter", "hgvsWellDefined": "XP_011524283.1:p.Trp2777_Gln3298delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093089" }, { "coordinates": [ { "allele": "A", "end": 8407, "referenceAllele": "G", "start": 8406 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525982.1:c.8166G>A" ], "proteinEffect": { "hgvs": "XP_011524284.1:p.Trp2722Ter", "hgvsWellDefined": "XP_011524284.1:p.Trp2722_Gln3243delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093090" }, { "coordinates": [ { "allele": "A", "end": 8704, "referenceAllele": "G", "start": 8703 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525978.2:c.8463G>A" ], "proteinEffect": { "hgvs": "XP_011524280.1:p.Trp2821Ter", "hgvsWellDefined": "XP_011524280.1:p.Trp2821_Gln3342delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548087" }, { "coordinates": [ { "allele": "A", "end": 8695, "referenceAllele": "G", "start": 8694 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525979.2:c.8454G>A" ], "proteinEffect": { "hgvs": "XP_011524281.1:p.Trp2818Ter", "hgvsWellDefined": "XP_011524281.1:p.Trp2818_Gln3339delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548088" }, { "coordinates": [ { "allele": "A", "end": 8686, "referenceAllele": "G", "start": 8685 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525980.2:c.8445G>A" ], "proteinEffect": { "hgvs": "XP_011524282.1:p.Trp2815Ter", "hgvsWellDefined": "XP_011524282.1:p.Trp2815_Gln3336delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548089" }, { "coordinates": [ { "allele": "A", "end": 8572, "referenceAllele": "G", "start": 8571 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525981.2:c.8331G>A" ], "proteinEffect": { "hgvs": "XP_011524283.1:p.Trp2777Ter", "hgvsWellDefined": "XP_011524283.1:p.Trp2777_Gln3298delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548090" }, { "coordinates": [ { "allele": "A", "end": 8407, "referenceAllele": "G", "start": 8406 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_011525982.2:c.8166G>A" ], "proteinEffect": { "hgvs": "XP_011524284.1:p.Trp2722Ter", "hgvsWellDefined": "XP_011524284.1:p.Trp2722_Gln3243delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548091" }, { "coordinates": [ { "allele": "A", "end": 6388, "referenceAllele": "G", "start": 6387 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_017025743.1:c.6315G>A" ], "proteinEffect": { "hgvs": "XP_016881232.1:p.Trp2105Ter", "hgvsWellDefined": "XP_016881232.1:p.Trp2105_Gln2626delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576037" }, { "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "G", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XM_017025744.1:c.4005G>A" ], "proteinEffect": { "hgvs": "XP_016881233.1:p.Trp1335Ter", "hgvsWellDefined": "XP_016881233.1:p.Trp1335_Gln1856delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576038" }, { "coordinates": [ { "allele": "A", "end": 8704, "referenceAllele": "G", "start": 8703 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "XR_001753199.1:n.8704G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599792" }, { "@id": "http://reg.genome.network/allele/PA2825094040", "coordinates": [ { "allele": "A", "end": 3634, "referenceAllele": "G", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.5:c.3609G>A" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Trp1203Ter", "hgvsWellDefined": "NP_000218.3:p.Trp1203_Gln1724delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674753" }, { "@id": "http://reg.genome.network/allele/PA2825659527", "coordinates": [ { "allele": "A", "end": 8499, "referenceAllele": "G", "start": 8498 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.3:c.8268G>A" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Trp2756Ter", "hgvsWellDefined": "NP_001121189.2:p.Trp2756_Gln3277delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676946" }, { "@id": "http://reg.genome.network/allele/PA2825660360", "coordinates": [ { "allele": "A", "end": 3466, "referenceAllele": "G", "start": 3465 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.3:c.3441G>A" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Trp1147Ter", "hgvsWellDefined": "NP_001121190.2:p.Trp1147_Gln1668delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676947" }, { "@id": "http://reg.genome.network/allele/PA645484168", "coordinates": [ { "allele": "A", "end": 8667, "referenceAllele": "G", "start": 8666 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.3:c.8436G>A" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Trp2812Ter", "hgvsWellDefined": "NP_937762.2:p.Trp2812_Gln3333delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701253" }, { "@id": "http://reg.genome.network/allele/PA2825094040", "coordinates": [ { "allele": "A", "end": 3634, "referenceAllele": "G", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_000227.6:c.3609G>A" ], "proteinEffect": { "hgvs": "NP_000218.3:p.Trp1203Ter", "hgvsWellDefined": "NP_000218.3:p.Trp1203_Gln1724delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710810", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269217.11:c.3609G>A" }, "RefSeq": { "hgvs": "NM_000227.6:c.3609G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269217.5:p.Trp1203Ter" }, "RefSeq": { "hgvs": "NP_000218.3:p.Trp1203Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825659527", "coordinates": [ { "allele": "A", "end": 8499, "referenceAllele": "G", "start": 8498 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127717.4:c.8268G>A" ], "proteinEffect": { "hgvs": "NP_001121189.2:p.Trp2756Ter", "hgvsWellDefined": "NP_001121189.2:p.Trp2756_Gln3277delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712231" }, { "@id": "http://reg.genome.network/allele/PA2825660360", "coordinates": [ { "allele": "A", "end": 3466, "referenceAllele": "G", "start": 3465 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_001127718.4:c.3441G>A" ], "proteinEffect": { "hgvs": "NP_001121190.2:p.Trp1147Ter", "hgvsWellDefined": "NP_001121190.2:p.Trp1147_Gln1668delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712232" }, { "@id": "http://reg.genome.network/allele/PA645484168", "coordinates": [ { "allele": "A", "end": 8667, "referenceAllele": "G", "start": 8666 } ], "gene": "http://reg.genome.network/gene/GN006483", "geneNCBI_id": 3909, "geneSymbol": "LAMA3", "hgvs": [ "NM_198129.4:c.8436G>A" ], "proteinEffect": { "hgvs": "NP_937762.2:p.Trp2812Ter", "hgvsWellDefined": "NP_937762.2:p.Trp2812_Gln3333delinsThrArgAsnLeuGlnValThrLeuGluAspGlyTyrIleGluLeuSerThrSerAspSerGlyGlyProIlePheLysSerProGlnThrTyrMetAspGlyLeuLeuHisTyrValSerValIleSerAspAsnSerGlyLeuArgLeuLeuIleAspAspGlnLeuLeuArgAsnSerLysArgLeuLysHisIleSerSerSerArgGlnSerLeuArgLeuGlyGlySerAsnPheGluGlyCysIleSerAsnValPheValGlnArgLeuSerLeuSerProGluValLeuAspLeuThrSerAsnSerLeuLysArgAspValSerLeuGlyGlyCysSerLeuAsnLysProProPheLeuMetLeuLeuLysGlySerThrArgPheAsnLysThrLysThrPheArgIleAsnGlnLeuLeuGlnAspThrProValAlaSerProArgSerValLysValTrpGlnAspAlaCysSerProLeuProLysThrGlnAlaAsnHisGlyAlaLeuGlnPheGlyAspIleProThrSerHisLeuLeuPheLysLeuProGlnGluLeuLeuLysProArgSerGlnPheAlaValAspMetGlnThrThrSerSerArgGlyLeuValPheHisThrGlyThrLysAsnSerPheMetAlaLeuTyrLeuSerLysGlyArgLeuValPheAlaLeuGlyThrAspGlyLysLysLeuArgIleLysSerLysGluLysCysAsnAspGlyLysTrpHisThrValValPheGlyHisAspGlyGluLysGlyArgLeuValValAspGlyLeuArgAlaArgGluGlySerLeuProGlyAsnSerThrIleSerIleArgAlaProValTyrLeuGlySerProProSerGlyLysProLysSerLeuProThrAsnSerPheValGlyCysLeuLysAsnPheGlnLeuAspSerLysProLeuTyrThrProSerSerSerPheGlyValSerSerCysLeuGlyGlyProLeuGluLysGlyIleTyrPheSerGluGluGlyGlyHisValValLeuAlaHisSerValLeuLeuGlyProGluPheLysLeuValPheSerIleArgProArgSerLeuThrGlyIleLeuIleHisIleGlySerGlnProGlyLysHisLeuCysValTyrLeuGluAlaGlyLysValThrAlaSerMetAspSerGlyAlaGlyGlyThrSerThrSerValThrProLysGlnSerLeuCysAspGlyGlnTrpHisSerValAlaValThrIleLysGlnHisIleLeuHisLeuGluLeuAspThrAspSerSerTyrThrAlaGlyGlnIleProPheProProAlaSerThrGlnGluProLeuHisLeuGlyGlyAlaProAlaAsnLeuThrThrLeuArgIleProValTrpLysSerPhePheGlyCysLeuArgAsnIleHisValAsnHisIleProValProValThrGluAlaLeuGluValGlnGlyProValSerLeuAsnGlyCysProAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729879", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313654.14:c.8436G>A" }, "RefSeq": { "hgvs": "NM_198129.4:c.8436G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324532.8:p.Trp2812Ter" }, "RefSeq": { "hgvs": "NP_937762.2:p.Trp2812Ter" } } } } ], "type": "nucleotide" }