{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368874827", "communityStandardTitle": [ "NM_002291.3(LAMB1):c.1553T>A (p.Leu518Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107613446A>T?assembly=hg19", "id": "chr7:g.107613446A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107973001A>T?assembly=hg38", "id": "chr7:g.107973001A>T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 107973001, "referenceAllele": "A", "start": 107973000 } ], "hgvs": [ "NC_000007.14:g.107973001A>T", "CM000669.2:g.107973001A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 107613446, "referenceAllele": "A", "start": 107613445 } ], "hgvs": [ "NC_000007.13:g.107613446A>T", "CM000669.1:g.107613446A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 107400682, "referenceAllele": "A", "start": 107400681 } ], "hgvs": [ "NC_000007.12:g.107400682A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 35359, "referenceAllele": "T", "start": 35358 } ], "hgvs": [ "NG_023255.1:g.35359T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "T", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.11:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Leu518Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS740572", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.1553T>A" }, "RefSeq": { "hgvs": "NM_002291.3:c.1553T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Leu518Ter" }, "RefSeq": { "hgvs": "NP_002282.2:p.Leu518Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1658, "referenceAllele": "T", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.6:c.1142T>A" ], "proteinEffect": { "hgvs": "ENSP00000377191.2:p.Leu381Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS753137" }, { "coordinates": [ { "allele": "A", "end": 1963, "referenceAllele": "T", "start": 1962 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000439976.6:c.1811T>A" ], "proteinEffect": { "hgvs": "ENSP00000412686.2:p.Leu604Ter", "hgvsWellDefined": "ENSP00000412686.2:p.Leu604_Gln705del" }, "referenceSequence": "http://reg.genome.network/refseq/RS755775" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676574.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000503081.1:p.Leu518Ter", "hgvsWellDefined": "ENSP00000503081.1:p.Leu518_Cys1399delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776252" }, { "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "T", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676777.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000504756.1:p.Leu518Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776449" }, { "coordinates": [ { "allele": "A", "end": 1658, "referenceAllele": "T", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676920.1:c.1142T>A" ], "proteinEffect": { "hgvs": "ENSP00000503814.1:p.Leu381Ter", "hgvsWellDefined": "ENSP00000503814.1:p.Leu381_Arg1051delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776591" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "T", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677101.1:c.*1189T>A" ], "proteinEffect": { "hgvs": "ENSP00000503156.1:n.*1189T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776767" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677144.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000503049.1:p.Leu518Ter", "hgvsWellDefined": "ENSP00000503049.1:p.Leu518_Met982delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysArgAlaTrpLeuValThrMetAlaThrProSerLeuGlyGlnGluIleThrAlaAlaLeuAlaLeuAlaGlnMetValProThrValAspAlaSerLeuProGlyAlaAlaThrLysIleLeuLeuLeuTyrSerLeuProValPheValIleLeuAspThrLeuValProAspValThrThrValProGlnAspThrLeuAlaIleHisGlnLysLeuGlyGlyArgValSerLeuAlaSerValThrThrThrLeuThrArgGlnThrGlnLysProValThrArgArgLeuGlyGlyValSerSerAlaCysThrThrArgLysGlyAsnThrValSerSerAlaGlyLeuAspThrMetValMetProSerSerArgThrValGluSerValSerValIleThrTrpAlaProCysLysSerThrValThrAlaLeuThrAlaSerAlaThrLysProLeuValSerAlaCysValPheLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776809" }, { "coordinates": [ { "allele": "A", "end": 2777, "referenceAllele": "T", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677485.1:n.2777T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777147" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677588.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000502938.1:p.Leu518Ter", "hgvsWellDefined": "ENSP00000502938.1:p.Leu518_Asn1132delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777247" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677652.1:n.1742T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777310" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677734.1:n.1742T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777389" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677793.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000504020.1:p.Leu518Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS777445" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "T", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677801.1:c.1142T>A" ], "proteinEffect": { "hgvs": "ENSP00000503438.1:p.Leu381Ter", "hgvsWellDefined": "ENSP00000503438.1:p.Leu381_Ala1262delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777453" }, { "coordinates": [ { "allele": "A", "end": 1719, "referenceAllele": "T", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677994.1:n.1719T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777644" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678232.1:n.1742T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777880" }, { "coordinates": [ { "allele": "A", "end": 1695, "referenceAllele": "T", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678266.1:n.1695T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777914" }, { "coordinates": [ { "allele": "A", "end": 1723, "referenceAllele": "T", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678346.1:c.*1189T>A" ], "proteinEffect": { "hgvs": "ENSP00000504349.1:n.*1189T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777993" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "T", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678698.1:c.1142T>A" ], "proteinEffect": { "hgvs": "ENSP00000503198.1:p.Leu381Ter", "hgvsWellDefined": "ENSP00000503198.1:p.Leu381_Phe1203delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778337" }, { "coordinates": [ { "allele": "A", "end": 1746, "referenceAllele": "T", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678704.1:c.*135T>A" ], "proteinEffect": { "hgvs": "ENSP00000504589.1:n.*135T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778343" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678892.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000504841.1:p.Leu518Ter", "hgvsWellDefined": "ENSP00000504841.1:p.Leu518_Phe1340delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778529" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679173.1:n.1742T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778808" }, { "coordinates": [ { "allele": "A", "end": 1658, "referenceAllele": "T", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679200.1:c.1142T>A" ], "proteinEffect": { "hgvs": "ENSP00000503498.1:p.Leu381Ter", "hgvsWellDefined": "ENSP00000503498.1:p.Leu381_Phe1203delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778834" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679244.1:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000504656.1:p.Leu518Ter", "hgvsWellDefined": "ENSP00000504656.1:p.Leu518_Arg1188delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778878" }, { "coordinates": [ { "allele": "A", "end": 1784, "referenceAllele": "T", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.10:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Leu518Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS248377" }, { "coordinates": [ { "allele": "A", "end": 1716, "referenceAllele": "T", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393560.5:c.1553T>A" ], "proteinEffect": { "hgvs": "ENSP00000377190.1:p.Leu518Ter", "hgvsWellDefined": "ENSP00000377190.1:p.Leu518_Ser850delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysArgArgPheLeuLysSerIleValMetHisSerPheArgLeuThrGlnProLeuTrpGlnGlySerIleAlaAlaGluProMetLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275690" }, { "coordinates": [ { "allele": "A", "end": 1810, "referenceAllele": "T", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.5:c.1625T>A" ], "proteinEffect": { "hgvs": "ENSP00000377191.1:p.Leu542Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS275691" }, { "coordinates": [ { "allele": "A", "end": 1888, "referenceAllele": "T", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.2:c.1553T>A" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Leu518Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS027611" }, { "coordinates": [ { "allele": "A", "end": 1708, "referenceAllele": "T", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_011516203.1:c.1553T>A" ], "proteinEffect": { "hgvs": "XP_011514505.1:p.Leu518Ter", "hgvsWellDefined": "XP_011514505.1:p.Leu518_Cys1399delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083406" }, { "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "T", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012201.1:c.1625T>A" ], "proteinEffect": { "hgvs": "XP_016867690.1:p.Leu542Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS565855" }, { "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "T", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012202.1:c.1625T>A" ], "proteinEffect": { "hgvs": "XP_016867691.1:p.Leu542Ter", "hgvsWellDefined": "XP_016867691.1:p.Leu542_Arg1212delinsAsnAsnSerCysPheAlaGluSerGlyGlnCysSerCysArgProHisMetIleGlyArgGlnCysAsnGluValGluProGlyTyrTyrPheAlaThrLeuAspHisTyrLeuTyrGluAlaGluGluAlaAsnLeuGlyProGlyValSerIleValGluArgGlnTyrIleGlnAspArgIleProSerTrpThrGlyAlaGlyPheValArgValProGluGlyAlaTyrLeuGluPhePheIleAspAsnIleProTyrSerMetGluTyrAspIleLeuIleArgTyrGluProGlnLeuProAspHisTrpGluLysAlaValIleThrValGlnArgProGlyArgIleProThrSerSerArgCysGlyAsnThrIleProAspAspAspAsnGlnValValSerLeuSerProGlySerArgTyrValValLeuProArgProValCysPheGluLysGlyThrAsnTyrThrValArgLeuGluLeuProGlnTyrThrSerSerAspSerAspValGluSerProTyrThrLeuIleAspSerLeuValLeuMetProTyrCysLysSerLeuAspIlePheThrValGlyGlySerGlyAspGlyValValThrAsnSerAlaTrpGluThrPheGlnArgTyrArgCysLeuGluAsnSerArgSerValValLysThrProMetThrAspValCysArgAsnIleIlePheSerIleSerAlaLeuLeuHisGlnThrGlyLeuAlaCysGluCysAspProGlnGlySerLeuSerSerValCysAspProAsnGlyGlyGlnCysGlnCysArgProAsnValValGlyArgThrCysAsnArgCysAlaProGlyThrPheGlyPheGlyProSerGlyCysLysProCysGluCysHisLeuGlnGlySerValAsnAlaPheCysAsnProValThrGlyGlnCysHisCysPheGlnGlyValTyrAlaArgGlnCysAspArgCysLeuProGlyHisTrpGlyPheProSerCysGlnProCysGlnCysAsnGlyHisAlaAspAspCysAspProValThrGlyGluCysLeuAsnCysGlnAspTyrThrMetGlyHisAsnCysGluArgCysLeuAlaGlyTyrTyrGlyAspProIleIleGlySerGlyAspHisCysArgProCysProCysProAspGlyProAspSerGlyArgGlnPheAlaArgSerCysTyrGlnAspProValThrLeuGlnLeuAlaCysValCysAspProGlyTyrIleGlySerArgCysAspAspCysAlaSerGlyTyrPheGlyAsnProSerGluValGlyGlySerCysGlnProCysGlnCysHisAsnAsnIleAspThrThrAspProGluAlaCysAspLysGluThrGlyArgCysLeuLysCysLeuTyrHisThrGluGlyGluHisCysGlnPheCysArgPheGlyTyrTyrGlyAspAlaLeuGlnGlnAspCysArgLysCysValCysAsnTyrLeuGlyThrValGlnGluHisCysAsnGlySerAspCysGlnCysAspLysAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565856" }, { "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "T", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XR_001744756.1:n.2356T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593442" }, { "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "T", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.3:c.1553T>A" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Leu518Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS665454", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.1553T>A" }, "RefSeq": { "hgvs": "NM_002291.3:c.1553T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Leu518Ter" }, "RefSeq": { "hgvs": "NP_002282.2:p.Leu518Ter" } } } } ], "type": "nucleotide" }