{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130942", "communityStandardTitle": [ "NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049ProfsTer7)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51182[alleleid]", "alleleId": 51182, "preferredName": "NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42014", "RCV": [ "RCV000034856" ], "variationId": 42014 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107592590_107592603delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG?assembly=hg19", "id": "chr7:g.107592590_107592603delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107952145_107952158delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG?assembly=hg38", "id": "chr7:g.107952145_107952158delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907343", "rs": 387907343 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG", "end": 107952158, "referenceAllele": "TGACCAGTGGCTTT", "start": 107952144 } ], "hgvs": [ "NC_000007.14:g.107952145_107952158delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG", "CM000669.2:g.107952145_107952158delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG", "end": 107592603, "referenceAllele": "TGACCAGTGGCTTT", "start": 107592589 } ], "hgvs": [ "NC_000007.13:g.107592590_107592603delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG", "CM000669.1:g.107592590_107592603delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG", "end": 107379839, "referenceAllele": "TGACCAGTGGCTTT", "start": 107379825 } ], "hgvs": [ "NC_000007.12:g.107379826_107379839delinsATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 56215, "referenceAllele": "AAAGCCACTGGTCA", "start": 56201 } ], "hgvs": [ "NG_023255.1:g.56202_56215delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS003747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3295, "referenceAllele": "AAAGCCACTGGTCA", "start": 3281 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.11:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000222399.6:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1171_Leu1786delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS740572", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" }, "RefSeq": { "hgvs": "NM_002291.3:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Lys1049ProfsTer7" }, "RefSeq": { "hgvs": "NP_002282.2:p.Lys1049ProfsTer7" } } } }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3263, "referenceAllele": "AAAGCCACTGGTCA", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.6:c.2734_2747delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000377191.2:p.Lys912ProfsTer7", "hgvsWellDefined": "ENSP00000377191.2:p.[Lys912_Leu920delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn922delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile924_Gln937delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala939_Asp989delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu991_Gln1009delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1011_Tyr1032delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1034_Leu1649delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS753137" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676574.1:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503081.1:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000503081.1:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Gly1171_Cys1399delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS776252" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3295, "referenceAllele": "AAAGCCACTGGTCA", "start": 3281 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676777.1:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000504756.1:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000504756.1:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer;Gly1171_Arg1675delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerValGlyIleHisAsnHisTyrMetAsnGlyAsnThrProThrTyrThrLeuThrArgLysValHisLeuLeuSerMetAsnArgAsnSerTyrAsnSerThrLeuLysAspSerPheAsnLysSerLysLeuLeuArgTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS776449" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3263, "referenceAllele": "AAAGCCACTGGTCA", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676920.1:c.2734_2747delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503814.1:p.Lys912ProfsTer7", "hgvsWellDefined": "ENSP00000503814.1:p.[Lys912_Leu920delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Asn922delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Ile924_Gln937delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Ala939_Asp989delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Glu991_Gly1006delinsCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;His1008_Leu1019delinsAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Pro1021_Arg1051delinsGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS776591" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3201, "referenceAllele": "AAAGCCACTGGTCA", "start": 3187 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677101.1:c.*2781_*2794delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503156.1:n.*2781_*2794delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS776767" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3115, "referenceAllele": "AAAGCCACTGGTCA", "start": 3101 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677144.1:c.2913_2926delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503049.1:p.Thr972GlnfsTer13", "hgvsWellDefined": "ENSP00000503049.1:p.[Lys972_Pro973delinsGlnCysProLeuValSerAlaCysValPheLeuMetTer;Val975_Cys978delinsCysLeuProAsnSerAlaCysValPheLeuMetTer;Phe980_Met982delinsLeuValSerSerLeuMetTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS776809" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 4382, "referenceAllele": "AAAGCCACTGGTCA", "start": 4368 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677485.1:n.4369_4382delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS777147" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677588.1:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000502938.1:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000502938.1:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer;Ala1076delinsValSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer;Gly1078_His1090delinsThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer;Phe1092_Asn1132delinsGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgGlyAsnTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS777247" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677652.1:n.3334_3347delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS777310" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3268, "endIntronDirection": "+", "endIntronOffset": 1385, "referenceAllele": "AAAGCCACTGGTCA", "start": 3268, "startIntronDirection": "+", "startIntronOffset": 1371 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677793.1:c.3079+1372_3079+1385delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000504020.1:n.3079+1372_3079+1385delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS777445" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3315, "referenceAllele": "AAAGCCACTGGTCA", "start": 3301 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677801.1:c.2734_2747delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503438.1:p.Lys912ProfsTer7", "hgvsWellDefined": "ENSP00000503438.1:p.[Lys912_Leu920delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer;Asn922delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer;Ile924_Gln937delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer;Ala939_Asp989delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer;Glu991_Gln1009delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer;Thr1011_Tyr1032delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer;Gly1034_Ala1262delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetTyrCysAlaTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS777453" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3324, "referenceAllele": "AAAGCCACTGGTCA", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677994.1:n.3311_3324delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS777644" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678232.1:n.3334_3347delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS777880" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3300, "referenceAllele": "AAAGCCACTGGTCA", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678266.1:n.3287_3300delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS777914" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3328, "referenceAllele": "AAAGCCACTGGTCA", "start": 3314 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678346.1:c.*2781_*2794delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000504349.1:n.*2781_*2794delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS777993" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3315, "referenceAllele": "AAAGCCACTGGTCA", "start": 3301 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678698.1:c.2734_2747delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503198.1:p.Lys912ProfsTer7", "hgvsWellDefined": "ENSP00000503198.1:p.[Lys912_Leu920delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Asn922delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Ile924_Gln937delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Ala939_Asp989delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Glu991_Gln1009delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Thr1011_Tyr1032delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Gly1034_Phe1203delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS778337" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3351, "referenceAllele": "AAAGCCACTGGTCA", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678704.1:c.*1727_*1740delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000504589.1:n.*1727_*1740delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS778343" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678892.1:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000504841.1:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000504841.1:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Gly1171_Phe1340delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS778529" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679173.1:n.3334_3347delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS778808" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3263, "referenceAllele": "AAAGCCACTGGTCA", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679200.1:c.2734_2747delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000503498.1:p.Lys912ProfsTer7", "hgvsWellDefined": "ENSP00000503498.1:p.[Lys912_Leu920delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Asn922delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Ile924_Gln937delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Ala939_Asp989delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Glu991_Gln1009delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Thr1011_Tyr1032delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer;Gly1034_Phe1203delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGluMetGlySerCysTyrAlaAlaGlnAlaGlyLeuGluLeuLeuAspSerSerAspProProValSerAspPheTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS778834" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3347, "referenceAllele": "AAAGCCACTGGTCA", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679244.1:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000504656.1:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000504656.1:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Glu1128_Gly1143delinsCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;His1145_Leu1156delinsAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Pro1158_Arg1188delinsGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS778878" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3389, "referenceAllele": "AAAGCCACTGGTCA", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.10:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Lys1049ProfsTer7", "hgvsWellDefined": "ENSP00000222399.6:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1171_Leu1786delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS248377" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3415, "referenceAllele": "AAAGCCACTGGTCA", "start": 3401 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.5:c.3217_3230delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "ENSP00000377191.1:p.Lys1073ProfsTer7", "hgvsWellDefined": "ENSP00000377191.1:p.[Lys1073_Leu1081delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn1083delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile1085_Gln1098delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala1100_Asp1150delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu1152_Gln1170delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1172_Tyr1193delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1195_Leu1810delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS275691" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 199, "referenceAllele": "AAAGCCACTGGTCA", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000476039.1:n.186_199delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS317190" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3493, "referenceAllele": "AAAGCCACTGGTCA", "start": 3479 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.2:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Lys1049ProfsTer7", "hgvsWellDefined": "NP_002282.2:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1171_Leu1786delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS027611" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3313, "referenceAllele": "AAAGCCACTGGTCA", "start": 3299 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_011516203.1:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "XP_011514505.1:p.Lys1049ProfsTer7", "hgvsWellDefined": "XP_011514505.1:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer;Gly1171_Cys1399delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetHisProCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083406" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3961, "referenceAllele": "AAAGCCACTGGTCA", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012201.1:c.3217_3230delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "XP_016867690.1:p.Lys1073ProfsTer7", "hgvsWellDefined": "XP_016867690.1:p.[Lys1073_Leu1081delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn1083delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile1085_Gln1098delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala1100_Asp1150delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu1152_Gln1170delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1172_Tyr1193delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1195_Leu1810delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS565855" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3961, "referenceAllele": "AAAGCCACTGGTCA", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012202.1:c.3217_3230delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "XP_016867691.1:p.Lys1073ProfsTer7", "hgvsWellDefined": "XP_016867691.1:p.[Lys1073_Leu1081delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Asn1083delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Ile1085_Gln1098delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Ala1100_Asp1150delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Glu1152_Gly1167delinsCysArgAspValGluAspValThrGlnPheProAspTyrProGlySerHisAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;His1169_Leu1180delinsAsnMetCysGlyGluGlyArgIleTyrHisLeuSerProGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer;Pro1182_Arg1212delinsGlnPheMetLeuLeuThrIleMetLeuTyrSerSerAsnLeuProLeuGluSerLeuGluCysArgGlyArgThrLysThrIleLysArgTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS565856" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3961, "referenceAllele": "AAAGCCACTGGTCA", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XR_001744756.1:n.3948_3961delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS593442" }, { "coordinates": [ { "allele": "CCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT", "end": 3295, "referenceAllele": "AAAGCCACTGGTCA", "start": 3281 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.3:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Lys1049ProfsTer7", "hgvsWellDefined": "NP_002282.2:p.[Lys1049_Leu1057delinsAlaThrGlyGlnCysLeuCysLeuProAsnValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Asn1059delinsValIleGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ile1061_Gln1074delinsGlyGlnAsnCysAspArgCysAlaProAsnThrTrpGlnLeuAlaSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Ala1076_Asp1126delinsSerGlyThrGlyCysAspProCysAsnCysAsnAlaAlaHisSerPheGlyProSerCysAsnGluPheThrGlyGlnCysGlnCysMetProGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuPheTrpGlyAspProAspValGluCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Glu1128_Gln1146delinsCysArgAlaCysAspCysAspProArgGlyIleGluThrProGlnCysAspGlnSerThrGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Thr1148_Tyr1169delinsGlyGlnCysValCysValGluGlyValGluGlyProArgCysAspLysCysThrArgGlyTyrSerGlyValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer;Gly1171_Leu1786delinsValPheProAspCysThrProCysHisGlnCysPheAlaLeuTrpAspValIleIleAlaGluLeuThrAsnArgThrHisArgPheLeuGluLysAlaLysAlaLeuLysIleSerGlyValIleGlyProTyrArgGluThrValAspSerValGluArgLysValSerGluIleLysAspIleLeuAlaGlnSerProAlaAlaGluProLeuLysAsnIleGlyAsnLeuPheGluGluAlaGluLysLeuIleLysAspValThrGluMetMetAlaGlnValGluValLysLeuSerAspThrThrSerGlnSerAsnSerThrAlaLysGluLeuAspSerLeuGlnThrGluAlaGluSerLeuAspAsnThrValLysGluLeuAlaGluGlnLeuGluPheIleLysAsnSerAspIleArgGlyAlaLeuAspSerIleThrLysTyrPheGlnMetSerLeuGluAlaGluGluArgValAsnAlaSerThrThrGluProAsnSerThrValGluGlnSerAlaLeuMetArgAspArgValGluAspValMetMetGluArgGluSerGlnPheLysGluLysGlnGluGluGlnAlaArgLeuLeuAspGluLeuAlaGlyLysLeuGlnSerLeuAspLeuSerAlaAlaAlaGluMetThrCysGlyThrProProGlyAlaSerCysSerGluThrGluCysGlyGlyProAsnCysArgThrAspGluGlyGluArgLysCysGlyGlyProGlyCysGlyGlyLeuValThrValAlaHisAsnAlaTrpGlnLysAlaMetAspLeuAspGlnAspValLeuSerAlaLeuAlaGluValGluGlnLeuSerLysMetValSerGluAlaLysLeuArgAlaAspGluAlaLysGlnSerAlaGluAspIleLeuLeuLysThrAsnAlaThrLysGluLysMetAspLysSerAsnGluGluLeuArgAsnLeuIleLysGlnIleArgAsnPheLeuThrGlnAspSerAlaAspLeuAspSerIleGluAlaValAlaAsnGluValLeuLysMetGluMetProSerThrProGlnGlnLeuGlnAsnLeuThrGluAspIleArgGluArgValGluSerLeuSerGlnValGluValIleLeuGlnHisSerAlaAlaAspIleAlaArgAlaGluMetLeuLeuGluGluAlaLysArgAlaSerLysSerAlaThrAspValLysValThrAlaAspMetValLysGluAlaLeuGluGluAlaGluLysAlaGlnValAlaAlaGluLysAlaIleLysGlnAlaAspGluAspIleGlnGlyThrGlnAsnLeuLeuThrSerIleGluSerGluThrAlaAlaSerGluGluThrLeuPheAsnAlaSerGlnArgIleSerGluLeuGluArgAsnValGluGluLeuLysArgLysAlaAlaGlnAsnSerGlyGluAlaGluTyrIleGluLysValValTyrThrValLysGlnSerAlaGluAspValLysLysThrLeuAspGlyGluLeuAspGluLysTyrLysLysValGluAsnLeuIleAlaLysLysThrGluGluSerAlaAspAlaArgArgLysAlaGluMetLeuGlnAsnGluAlaLysThrLeuLeuAlaGlnAlaAsnSerLysLeuGlnLeuLeuLysAspLeuGluArgLysTyrGluAspAsnGlnArgTyrLeuGluAspLysAlaGlnGluLeuAlaArgLeuGluGlyGluValArgSerLeuLeuLysAspIleSerGlnLysValAlaValTyrSerThrCysLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS665454", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" }, "RefSeq": { "hgvs": "NM_002291.3:c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Lys1049ProfsTer7" }, "RefSeq": { "hgvs": "NP_002282.2:p.Lys1049ProfsTer7" } } } } ], "type": "nucleotide" }