{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118972", "communityStandardTitle": [ "NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22711[alleleid]", "alleleId": 22711, "preferredName": "NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7672", "RCV": [ "RCV000008111", "RCV001092918" ], "variationId": 7672 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.108861879G>A?assembly=hg19", "id": "chr13:g.108861879G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.108209531G>A?assembly=hg38", "id": "chr13:g.108209531G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894418", "rs": 104894418 } ], "gnomAD_2": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS830018" }, { "coordinates": [ { "allele": "T", "end": 1974, "referenceAllele": "C", "start": 1973 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000686095.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509942.1:p.Arg580Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS830398" }, { "coordinates": [ { "allele": "T", "end": 4789, "referenceAllele": "C", "start": 4788 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000686204.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509685.1:p.Arg580Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS830811" }, { "coordinates": [ { "allele": "T", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000686926.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509122.1:p.Arg580Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS830816" }, { "coordinates": [ { "allele": "T", "end": 1925, "referenceAllele": "C", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000687164.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000508512.1:p.Arg580Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS830941" }, { "coordinates": [ { "allele": "T", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000687822.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509344.1:p.Arg580Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS831278" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000688396.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509564.1:p.Arg580Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS831607" }, { "coordinates": [ { "allele": "T", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000688455.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509304.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000509304.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831638" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "C", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000688529.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509906.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000509906.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831674" }, { "coordinates": [ { "allele": "T", "end": 2323, "referenceAllele": "C", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000688595.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509502.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000509502.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831712" }, { "coordinates": [ { "allele": "T", "end": 1938, "referenceAllele": "C", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000689762.1:c.1537C>T" ], "proteinEffect": { "hgvs": "ENSP00000508867.1:p.Arg513Ter", "hgvsWellDefined": "ENSP00000508867.1:p.Arg513_Ile844delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832346" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000690127.1:c.1537C>T" ], "proteinEffect": { "hgvs": "ENSP00000509468.1:p.Arg513Ter", "hgvsWellDefined": "ENSP00000509468.1:p.Arg513_Ile844delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832543" }, { "coordinates": [ { "allele": "T", "end": 4687, "referenceAllele": "C", "start": 4686 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000692222.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000509226.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000509226.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833608" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000693040.1:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000510014.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000510014.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834030" }, { "coordinates": [ { "allele": "T", "end": 1892, "referenceAllele": "C", "start": 1891 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000442234.6:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000402030.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000402030.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755893", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000442234.6:c.1738C>T" }, "RefSeq": { "hgvs": "NM_206937.2:c.1738C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402030.1:p.Arg580Ter" }, "RefSeq": { "hgvs": "NP_996820.1:p.Arg580Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000356922.5:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000349393.3:p.Arg580Ter", "hgvsWellDefined": "ENSP00000349393.3:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263922" }, { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000405925.2:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000385955.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000385955.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280481" }, { "coordinates": [ { "allele": "T", "end": 1890, "referenceAllele": "C", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000442234.5:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000402030.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000402030.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296782" }, { "coordinates": [ { "allele": "T", "end": 2088, "referenceAllele": "C", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000611712.4:c.1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000484288.1:p.Arg580Ter", "hgvsWellDefined": "ENSP00000484288.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400977" }, { "coordinates": [ { "allele": "T", "end": 1799, "referenceAllele": "C", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "ENST00000614526.1:c.1537C>T" ], "proteinEffect": { "hgvs": "ENSP00000480814.1:p.Arg513Ter", "hgvsWellDefined": "ENSP00000480814.1:p.Arg513_Ile844delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402237" }, { "@id": "http://reg.genome.network/allele/PA2825526054", "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001098268.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001091738.1:p.Arg580Ter", "hgvsWellDefined": "NP_001091738.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010564" }, { "@id": "http://reg.genome.network/allele/PA118974", "coordinates": [ { "allele": "T", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_002312.3:c.1738C>T", "LRG_79t1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_002303.2:p.Arg580Ter", "hgvsWellDefined": "NP_002303.2:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027633" }, { "@id": "http://reg.genome.network/allele/PA2830522491", "coordinates": [ { "allele": "T", "end": 1890, "referenceAllele": "C", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_206937.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_996820.1:p.Arg580Ter", "hgvsWellDefined": "NP_996820.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045340" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_005254056.1:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_005254113.1:p.Arg580Ter", "hgvsWellDefined": "XP_005254113.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060483" }, { "coordinates": [ { "allele": "T", "end": 2007, "referenceAllele": "C", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_005254057.3:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_005254114.1:p.Arg580Ter", "hgvsWellDefined": "XP_005254114.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060484" }, { "coordinates": [ { "allele": "T", "end": 3463, "referenceAllele": "C", "start": 3462 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_005254058.2:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_005254115.1:p.Arg580Ter", "hgvsWellDefined": "XP_005254115.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060485" }, { "coordinates": [ { "allele": "T", "end": 3644, "referenceAllele": "C", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_006719951.2:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_006720014.1:p.Arg580Ter", "hgvsWellDefined": "XP_006720014.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073417" }, { "coordinates": [ { "allele": "T", "end": 2323, "referenceAllele": "C", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_006719952.1:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_006720015.1:p.Arg580Ter", "hgvsWellDefined": "XP_006720015.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073418" }, { "coordinates": [ { "allele": "T", "end": 2297, "referenceAllele": "C", "start": 2296 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_011521091.1:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_011519393.1:p.Arg580Ter", "hgvsWellDefined": "XP_011519393.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088255" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_011521092.1:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_011519394.1:p.Arg580Ter", "hgvsWellDefined": "XP_011519394.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088256" }, { "@id": "http://reg.genome.network/allele/PA2827333947", "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001330595.1:c.1537C>T" ], "proteinEffect": { "hgvs": "NP_001317524.1:p.Arg513Ter", "hgvsWellDefined": "NP_001317524.1:p.Arg513_Ile844delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516940" }, { "@id": "http://reg.genome.network/allele/PA2827659681", "coordinates": [ { "allele": "T", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352598.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339527.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339527.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521025" }, { "@id": "http://reg.genome.network/allele/PA2827660262", "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352599.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339528.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339528.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521026" }, { "@id": "http://reg.genome.network/allele/PA2827660842", "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352600.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339529.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339529.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521027" }, { "@id": "http://reg.genome.network/allele/PA2827661422", "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "C", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352601.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339530.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339530.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521028" }, { "@id": "http://reg.genome.network/allele/PA2827662002", "coordinates": [ { "allele": "T", "end": 1917, "referenceAllele": "C", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352602.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339531.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339531.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521029" }, { "@id": "http://reg.genome.network/allele/PA2827662581", "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352603.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339532.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339532.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521030" }, { "@id": "http://reg.genome.network/allele/PA916035476", "coordinates": [ { "allele": "T", "end": 1945, "referenceAllele": "C", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352604.1:c.1774C>T" ], "proteinEffect": { "hgvs": "NP_001339533.1:p.Arg592Ter", "hgvsWellDefined": "NP_001339533.1:p.Arg592_Ile923delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521031" }, { "coordinates": [ { "allele": "T", "end": 3699, "referenceAllele": "C", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_005254058.4:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_005254115.1:p.Arg580Ter", "hgvsWellDefined": "XP_005254115.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534055" }, { "coordinates": [ { "allele": "T", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_006719951.3:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_006720014.1:p.Arg580Ter", "hgvsWellDefined": "XP_006720014.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539987" }, { "coordinates": [ { "allele": "T", "end": 1998, "referenceAllele": "C", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_017020564.1:c.1774C>T" ], "proteinEffect": { "hgvs": "XP_016876053.1:p.Arg592Ter", "hgvsWellDefined": "XP_016876053.1:p.Arg592_Ile923delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572028" }, { "coordinates": [ { "allele": "T", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_017020565.1:c.1774C>T" ], "proteinEffect": { "hgvs": "XP_016876054.1:p.Arg592Ter", "hgvsWellDefined": "XP_016876054.1:p.Arg592_Ile923delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572029" }, { "coordinates": [ { "allele": "T", "end": 2272, "referenceAllele": "C", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_017020566.1:c.1774C>T" ], "proteinEffect": { "hgvs": "XP_016876055.1:p.Arg592Ter", "hgvsWellDefined": "XP_016876055.1:p.Arg592_Ile923delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572030" }, { "coordinates": [ { "allele": "T", "end": 3776, "referenceAllele": "C", "start": 3775 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_017020568.2:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_016876057.1:p.Arg584Ter", "hgvsWellDefined": "XP_016876057.1:p.Arg584_Ile915delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572031" }, { "coordinates": [ { "allele": "T", "end": 4077, "referenceAllele": "C", "start": 4076 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_017020571.1:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_016876060.1:p.Arg580Ter", "hgvsWellDefined": "XP_016876060.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572032" }, { "coordinates": [ { "allele": "T", "end": 1774, "referenceAllele": "C", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "XM_017020573.1:c.1537C>T" ], "proteinEffect": { "hgvs": "XP_016876062.1:p.Arg513Ter", "hgvsWellDefined": "XP_016876062.1:p.Arg513_Ile844delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572033" }, { "@id": "http://reg.genome.network/allele/PA2825526054", "coordinates": [ { "allele": "T", "end": 1954, "referenceAllele": "C", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001098268.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001091738.1:p.Arg580Ter", "hgvsWellDefined": "NP_001091738.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676427" }, { "@id": "http://reg.genome.network/allele/PA2827659681", "coordinates": [ { "allele": "T", "end": 2371, "referenceAllele": "C", "start": 2370 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352598.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339527.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339527.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689314" }, { "@id": "http://reg.genome.network/allele/PA2827660262", "coordinates": [ { "allele": "T", "end": 2395, "referenceAllele": "C", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352599.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339528.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339528.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689315" }, { "@id": "http://reg.genome.network/allele/PA2827660842", "coordinates": [ { "allele": "T", "end": 2287, "referenceAllele": "C", "start": 2286 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352600.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339529.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339529.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689316" }, { "@id": "http://reg.genome.network/allele/PA2827661422", "coordinates": [ { "allele": "T", "end": 1996, "referenceAllele": "C", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352601.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339530.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339530.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689317" }, { "@id": "http://reg.genome.network/allele/PA2827662002", "coordinates": [ { "allele": "T", "end": 1888, "referenceAllele": "C", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352602.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001339531.1:p.Arg580Ter", "hgvsWellDefined": "NP_001339531.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689318" }, { "@id": "http://reg.genome.network/allele/PA2830522491", "coordinates": [ { "allele": "T", "end": 1892, "referenceAllele": "C", "start": 1891 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_206937.2:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_996820.1:p.Arg580Ter", "hgvsWellDefined": "NP_996820.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701703", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000442234.6:c.1738C>T" }, "RefSeq": { "hgvs": "NM_206937.2:c.1738C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402030.1:p.Arg580Ter" }, "RefSeq": { "hgvs": "NP_996820.1:p.Arg580Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827333947", "coordinates": [ { "allele": "T", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001330595.2:c.1537C>T" ], "proteinEffect": { "hgvs": "NP_001317524.1:p.Arg513Ter", "hgvsWellDefined": "NP_001317524.1:p.Arg513_Ile844delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718722" }, { "@id": "http://reg.genome.network/allele/PA916035476", "coordinates": [ { "allele": "T", "end": 1916, "referenceAllele": "C", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001352604.2:c.1774C>T" ], "proteinEffect": { "hgvs": "NP_001339533.1:p.Arg592Ter", "hgvsWellDefined": "NP_001339533.1:p.Arg592_Ile923delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720107" }, { "@id": "http://reg.genome.network/allele/PA2828807720", "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "C", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN006601", "geneNCBI_id": 3981, "geneSymbol": "LIG4", "hgvs": [ "NM_001379095.1:c.1738C>T" ], "proteinEffect": { "hgvs": "NP_001366024.1:p.Arg580Ter", "hgvsWellDefined": "NP_001366024.1:p.Arg580_Ile911delinsIleGluLysIleArgAspAspLysGluTrpHisGluCysMetThrLeuAspAspLeuGluGlnLeuArgGlyLysAlaSerGlyLysLeuAlaSerLysHisLeuTyrIleGlyGlyAspAspGluProGlnGluLysLysArgLysAlaAlaProLysMetLysLysValIleGlyIleIleGluHisLeuLysAlaProAsnLeuThrAsnValAsnLysIleSerAsnIlePheGluAspValGluPheCysValMetSerGlyThrAspSerGlnProLysProAspLeuGluAsnArgIleAlaGluPheGlyGlyTyrIleValGlnAsnProGlyProAspThrTyrCysValIleAlaGlySerGluAsnIleArgValLysAsnIleIleLeuSerAsnLysHisAspValValLysProAlaTrpLeuLeuGluCysPheLysThrLysSerPheValProTrpGlnProArgPheMetIleHisMetCysProSerThrLysGluHisPheAlaArgGluTyrAspCysTyrGlyAspSerTyrPheIleAspThrAspLeuAsnGlnLeuLysGluValPheSerGlyIleLysAsnSerAsnGluGlnThrProGluGluMetAlaSerLeuIleAlaAspLeuGluTyrArgTyrSerTrpAspCysSerProLeuSerMetPheArgArgHisThrValTyrLeuAspSerTyrAlaValIleAsnAspLeuSerThrLysAsnGluGlyThrArgLeuAlaIleLysAlaLeuGluLeuArgPheHisGlyAlaLysValValSerCysLeuAlaGluGlyValSerHisValIleIleGlyGluAspHisSerArgValAlaAspPheLysAlaPheArgArgThrPheLysArgLysPheLysIleLeuLysGluSerTrpValThrAspSerIleAspLysCysGluLeuGlnGluGluAsnGlnTyrLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721905" } ], "type": "nucleotide" }