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}, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "T", "end": 3311, "referenceAllele": "G", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000524792.5:n.3311G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350897" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000525537.2:n.372G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS351545" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 19955, "referenceAllele": "C", "start": 710, "startIntronDirection": "-", "startIntronOffset": 19956 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ 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"hgvs": [ "NM_000051.3:c.7096G>T", "LRG_135t1:c.7096G>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Glu2366Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "T", "end": 7304, "referenceAllele": "G", "start": 7303 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Glu2366Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "T", "end": 7613, "referenceAllele": "G", "start": 7612 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Glu2366Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "T", "end": 7236, "referenceAllele": "G", "start": 7235 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Glu2366Ter", "hgvsWellDefined": "XP_006718906.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "T", "end": 3121, "referenceAllele": "G", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.1:c.3052G>T" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Glu1018Ter", "hgvsWellDefined": "XP_006718908.1:p.Glu1018_Val1708delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072819" }, { "coordinates": [ { "allele": "T", "end": 7324, "referenceAllele": "G", "start": 7323 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Glu2366Ter", "hgvsWellDefined": "XP_011541142.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "T", "end": 8007, "referenceAllele": "G", "start": 8006 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Glu2366Ter", "hgvsWellDefined": "XP_011541143.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "T", "end": 7051, "referenceAllele": "G", "start": 7050 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.6931G>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Glu2311Ter", "hgvsWellDefined": "XP_011541144.1:p.Glu2311_Val3001delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "T", "end": 7813, "referenceAllele": "G", "start": 7812 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Glu2366Ter", "hgvsWellDefined": "XP_011541145.1:p.Glu2366_Ser2912delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "T", "end": 6597, "referenceAllele": "G", "start": 6596 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.6052G>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Glu2018Ter", "hgvsWellDefined": "XP_011541146.1:p.Glu2018_Val2708delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "T", "end": 5944, "referenceAllele": "G", "start": 5943 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.5788G>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Glu1930Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "T", "end": 2207, "referenceAllele": "G", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542847.1:c.2167G>T" ], "proteinEffect": { "hgvs": "XP_011541149.1:p.Glu723Ter", "hgvsWellDefined": "XP_011541149.1:p.Glu723_Val1413delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109776" }, { "coordinates": [ { "allele": "A", "end": 710, "endIntronDirection": "-", "endIntronOffset": 19955, "referenceAllele": "C", "start": 710, "startIntronDirection": "-", "startIntronOffset": 19956 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.1:c.641-19956C>A" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-19956C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS516750" }, { "coordinates": [ { "allele": "A", "end": 837, "endIntronDirection": "+", "endIntronOffset": 6193, "referenceAllele": "C", "start": 837, "startIntronDirection": "+", "startIntronOffset": 6192 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.1:c.*38+6193C>A" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+6193C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519918" }, { "@id": "http://reg.genome.network/allele/PA916034202", "coordinates": [ { "allele": "T", "end": 7569, "referenceAllele": "G", "start": 7568 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.7096G>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Glu2366Ter", "hgvsWellDefined": "NP_001338763.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "T", "end": 7615, "referenceAllele": "G", "start": 7614 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Glu2366Ter", "hgvsWellDefined": "XP_005271619.2:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "T", "end": 7248, "referenceAllele": "G", "start": 7247 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Glu2366Ter", "hgvsWellDefined": "XP_006718906.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "T", "end": 3122, "referenceAllele": "G", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.2:c.3052G>T" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Glu1018Ter", "hgvsWellDefined": "XP_006718908.1:p.Glu1018_Val1708delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539723" }, { "coordinates": [ { "allele": "T", "end": 7336, "referenceAllele": "G", "start": 7335 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Glu2366Ter", "hgvsWellDefined": "XP_011541142.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "T", "end": 7311, "referenceAllele": "G", "start": 7310 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.6931G>T" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Glu2311Ter", "hgvsWellDefined": "XP_011541144.1:p.Glu2311_Val3001delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "T", "end": 7829, "referenceAllele": "G", "start": 7828 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Glu2366Ter", "hgvsWellDefined": "XP_011541145.1:p.Glu2366_Ser2912delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "T", "end": 7432, "referenceAllele": "G", "start": 7431 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.6052G>T" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Glu2018Ter", "hgvsWellDefined": "XP_011541146.1:p.Glu2018_Val2708delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "T", "end": 5944, "referenceAllele": "G", "start": 5943 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.5788G>T" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Glu1930Ter", "hgvsWellDefined": "XP_011541147.1:p.Glu1930_Val2620delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "T", "end": 8039, "referenceAllele": "G", "start": 8038 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Glu2366Ter", "hgvsWellDefined": "XP_016873278.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "T", "end": 7436, "referenceAllele": "G", "start": 7435 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.7096G>T" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Glu2366Ter", "hgvsWellDefined": "XP_016873279.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "A", "end": 708, "endIntronDirection": "-", "endIntronOffset": 19955, "referenceAllele": "C", "start": 708, "startIntronDirection": "-", "startIntronOffset": 19956 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.2:c.641-19956C>A" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-19956C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686900" }, { "coordinates": [ { "allele": "A", "end": 835, "endIntronDirection": "+", "endIntronOffset": 6193, "referenceAllele": "C", "start": 835, "startIntronDirection": "+", "startIntronOffset": 6192 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.2:c.*38+6193C>A" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*38+6193C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688648" }, { "@id": "http://reg.genome.network/allele/PA916034202", "coordinates": [ { "allele": "T", "end": 7334, "referenceAllele": "G", "start": 7333 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.7096G>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Glu2366Ter", "hgvsWellDefined": "NP_001338763.1:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "@id": "http://reg.genome.network/allele/PA165163", "coordinates": [ { "allele": "T", "end": 7246, "referenceAllele": "G", "start": 7245 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.7096G>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Glu2366Ter", "hgvsWellDefined": "NP_000042.3:p.Glu2366_Val3056delinsValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.7096G>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.7096G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Glu2366Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Glu2366Ter" } } } } ], "type": "nucleotide" }