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}, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "T", "end": 3455, "referenceAllele": "C", "start": 3454 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000524792.5:n.3455C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350897" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000525537.2:n.516C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS351545" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 20099, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 20100 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "T", "end": 7448, "referenceAllele": "C", "start": 7447 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Gln2414Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "T", "end": 7757, "referenceAllele": "C", "start": 7756 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Gln2414Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "T", "end": 7380, "referenceAllele": "C", "start": 7379 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Gln2414Ter", "hgvsWellDefined": "XP_006718906.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "T", "end": 3265, "referenceAllele": "C", "start": 3264 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.1:c.3196C>T" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Gln1066Ter", "hgvsWellDefined": "XP_006718908.1:p.Gln1066_Val1708delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072819" }, { "coordinates": [ { "allele": "T", "end": 7468, "referenceAllele": "C", "start": 7467 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Gln2414Ter", "hgvsWellDefined": "XP_011541142.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "T", "end": 8151, "referenceAllele": "C", "start": 8150 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Gln2414Ter", "hgvsWellDefined": "XP_011541143.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "T", "end": 7195, "referenceAllele": "C", "start": 7194 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.7075C>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Gln2359Ter", "hgvsWellDefined": "XP_011541144.1:p.Gln2359_Val3001delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "T", "end": 7957, "referenceAllele": "C", "start": 7956 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Gln2414Ter", "hgvsWellDefined": "XP_011541145.1:p.Gln2414_Ser2912delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "T", "end": 6741, "referenceAllele": "C", "start": 6740 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.6196C>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Gln2066Ter", "hgvsWellDefined": "XP_011541146.1:p.Gln2066_Val2708delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "T", "end": 6088, "referenceAllele": "C", "start": 6087 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.5932C>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Gln1978Ter", "hgvsWellDefined": "XP_011541147.1:p.Gln1978_Val2620delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "T", "end": 2351, "referenceAllele": "C", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542847.1:c.2311C>T" ], "proteinEffect": { "hgvs": "XP_011541149.1:p.Gln771Ter", "hgvsWellDefined": "XP_011541149.1:p.Gln771_Val1413delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109776" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 20099, "referenceAllele": "G", "start": 710, "startIntronDirection": "-", "startIntronOffset": 20100 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.1:c.641-20100G>A" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-20100G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS516750" }, { "coordinates": [ { "allele": "A", "end": 837, "endIntronDirection": "+", "endIntronOffset": 6049, "referenceAllele": "G", "start": 837, "startIntronDirection": "+", "startIntronOffset": 6048 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.1:c.*38+6049G>A" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+6049G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519918" }, { "@id": "http://reg.genome.network/allele/PA916034256", "coordinates": [ { "allele": "T", "end": 7713, "referenceAllele": "C", "start": 7712 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.7240C>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Gln2414Ter", "hgvsWellDefined": "NP_001338763.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "T", "end": 7759, "referenceAllele": "C", "start": 7758 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Gln2414Ter", "hgvsWellDefined": "XP_005271619.2:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "T", "end": 7392, "referenceAllele": "C", "start": 7391 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Gln2414Ter", "hgvsWellDefined": "XP_006718906.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "T", "end": 3266, "referenceAllele": "C", "start": 3265 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.2:c.3196C>T" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Gln1066Ter", "hgvsWellDefined": "XP_006718908.1:p.Gln1066_Val1708delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539723" }, { "coordinates": [ { "allele": "T", "end": 7480, "referenceAllele": "C", "start": 7479 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Gln2414Ter", "hgvsWellDefined": "XP_011541142.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "T", "end": 7455, "referenceAllele": "C", "start": 7454 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.7075C>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Gln2359Ter", "hgvsWellDefined": "XP_011541144.1:p.Gln2359_Val3001delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "T", "end": 7973, "referenceAllele": "C", "start": 7972 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Gln2414Ter", "hgvsWellDefined": "XP_011541145.1:p.Gln2414_Ser2912delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "T", "end": 7576, "referenceAllele": "C", "start": 7575 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.6196C>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Gln2066Ter", "hgvsWellDefined": "XP_011541146.1:p.Gln2066_Val2708delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "T", "end": 6088, "referenceAllele": "C", "start": 6087 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.5932C>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Gln1978Ter", "hgvsWellDefined": "XP_011541147.1:p.Gln1978_Val2620delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "T", "end": 8183, "referenceAllele": "C", "start": 8182 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Gln2414Ter", "hgvsWellDefined": "XP_016873278.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "T", "end": 7580, "referenceAllele": "C", "start": 7579 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.7240C>T" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Gln2414Ter", "hgvsWellDefined": "XP_016873279.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "A", "end": 708, "endIntronDirection": "-", "endIntronOffset": 20099, "referenceAllele": "G", "start": 708, "startIntronDirection": "-", "startIntronOffset": 20100 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.2:c.641-20100G>A" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-20100G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686900" }, { "coordinates": [ { "allele": "A", "end": 835, "endIntronDirection": "+", "endIntronOffset": 6049, "referenceAllele": "G", "start": 835, "startIntronDirection": "+", "startIntronOffset": 6048 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.2:c.*38+6049G>A" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+6049G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688648" }, { "@id": "http://reg.genome.network/allele/PA916034256", "coordinates": [ { "allele": "T", "end": 7478, "referenceAllele": "C", "start": 7477 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.7240C>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Gln2414Ter", "hgvsWellDefined": "NP_001338763.1:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "@id": "http://reg.genome.network/allele/PA339147", "coordinates": [ { "allele": "T", "end": 7390, "referenceAllele": "C", "start": 7389 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.7240C>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Gln2414Ter", "hgvsWellDefined": "NP_000042.3:p.Gln2414_Val3056delinsAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.7240C>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.7240C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Gln2414Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Gln2414Ter" } } } } ], "type": "nucleotide" }