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}, "referenceSequence": "http://reg.genome.network/refseq/RS775610", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.6326G>A" }, "RefSeq": { "hgvs": "NM_000051.4:c.6326G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Trp2109Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Trp2109Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 6711, "referenceAllele": "G", "start": 6710 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.8:c.6326G>A" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Trp2109Ter", "hgvsWellDefined": "ENSP00000278616.4:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252814" }, { "coordinates": [ { "allele": "A", "end": 6515, "referenceAllele": "G", "start": 6514 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.6:c.6326G>A" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Trp2109Ter", "hgvsWellDefined": "ENSP00000388058.2:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "A", "end": 2541, "referenceAllele": "G", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000524792.5:n.2541G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350897" }, { "coordinates": [ { "allele": "T", "end": 710, "endIntronDirection": "-", "endIntronOffset": 8428, "referenceAllele": "C", "start": 710, "startIntronDirection": "-", "startIntronOffset": 8429 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "ENST00000525729.5:c.641-8429C>T" ], "proteinEffect": { "hgvs": "ENSP00000433395.1:n.641-8429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS351707" }, { "coordinates": [ { "allele": "A", "end": 1730, "referenceAllele": "G", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000533690.5:n.1730G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358422" }, { "@id": "http://reg.genome.network/allele/PA166796", "coordinates": [ { "allele": "A", "end": 6711, "referenceAllele": "G", "start": 6710 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.3:c.6326G>A", "LRG_135t1:c.6326G>A" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Trp2109Ter", "hgvsWellDefined": "NP_000042.3:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "G", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Trp2109Ter", "hgvsWellDefined": "XP_005271618.2:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "A", "end": 6843, "referenceAllele": "G", "start": 6842 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Trp2109Ter", "hgvsWellDefined": "XP_005271619.2:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "A", "end": 6466, "referenceAllele": "G", "start": 6465 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Trp2109Ter", "hgvsWellDefined": "XP_006718906.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "A", "end": 2351, "referenceAllele": "G", "start": 2350 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.1:c.2282G>A" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Trp761Ter", "hgvsWellDefined": "XP_006718908.1:p.Trp761_Val1708delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072819" }, { "coordinates": [ { "allele": "A", "end": 6554, "referenceAllele": "G", "start": 6553 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Trp2109Ter", "hgvsWellDefined": "XP_011541142.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "A", "end": 7237, "referenceAllele": "G", "start": 7236 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Trp2109Ter", "hgvsWellDefined": "XP_011541143.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "A", "end": 6281, "referenceAllele": "G", "start": 6280 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.6161G>A" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Trp2054Ter", "hgvsWellDefined": "XP_011541144.1:p.Trp2054_Val3001delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "A", "end": 7043, "referenceAllele": "G", "start": 7042 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Trp2109Ter", "hgvsWellDefined": "XP_011541145.1:p.Trp2109_Ser2912delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "A", "end": 5827, "referenceAllele": "G", "start": 5826 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.5282G>A" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Trp1761Ter", "hgvsWellDefined": "XP_011541146.1:p.Trp1761_Val2708delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "A", "end": 5174, "referenceAllele": "G", "start": 5173 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.5018G>A" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Trp1673Ter", "hgvsWellDefined": "XP_011541147.1:p.Trp1673_Val2620delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "G", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542847.1:c.1397G>A" ], "proteinEffect": { "hgvs": "XP_011541149.1:p.Trp466Ter", "hgvsWellDefined": "XP_011541149.1:p.Trp466_Val1413delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109776" }, { "coordinates": [ { "allele": "T", "end": 710, "endIntronDirection": "-", "endIntronOffset": 8428, "referenceAllele": "C", "start": 710, "startIntronDirection": "-", "startIntronOffset": 8429 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.1:c.641-8429C>T" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-8429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS516750" }, { "coordinates": [ { "allele": "T", "end": 837, "endIntronDirection": "-", "endIntronOffset": 8428, "referenceAllele": "C", "start": 837, "startIntronDirection": "-", "startIntronOffset": 8429 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.1:c.*39-8429C>T" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*39-8429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519918" }, { "@id": "http://reg.genome.network/allele/PA916033900", "coordinates": [ { "allele": "A", "end": 6799, "referenceAllele": "G", "start": 6798 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.6326G>A" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Trp2109Ter", "hgvsWellDefined": "NP_001338763.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "A", "end": 6845, "referenceAllele": "G", "start": 6844 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Trp2109Ter", "hgvsWellDefined": "XP_005271619.2:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "A", "end": 6478, "referenceAllele": "G", "start": 6477 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Trp2109Ter", "hgvsWellDefined": "XP_006718906.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "A", "end": 2352, "referenceAllele": "G", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.2:c.2282G>A" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Trp761Ter", "hgvsWellDefined": "XP_006718908.1:p.Trp761_Val1708delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539723" }, { "coordinates": [ { "allele": "A", "end": 6566, "referenceAllele": "G", "start": 6565 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Trp2109Ter", "hgvsWellDefined": "XP_011541142.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "A", "end": 6541, "referenceAllele": "G", "start": 6540 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.6161G>A" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Trp2054Ter", "hgvsWellDefined": "XP_011541144.1:p.Trp2054_Val3001delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "A", "end": 7059, "referenceAllele": "G", "start": 7058 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Trp2109Ter", "hgvsWellDefined": "XP_011541145.1:p.Trp2109_Ser2912delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "A", "end": 6662, "referenceAllele": "G", "start": 6661 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.5282G>A" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Trp1761Ter", "hgvsWellDefined": "XP_011541146.1:p.Trp1761_Val2708delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "A", "end": 5174, "referenceAllele": "G", "start": 5173 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.5018G>A" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Trp1673Ter", "hgvsWellDefined": "XP_011541147.1:p.Trp1673_Val2620delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "A", "end": 7269, "referenceAllele": "G", "start": 7268 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Trp2109Ter", "hgvsWellDefined": "XP_016873278.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "A", "end": 6666, "referenceAllele": "G", "start": 6665 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Trp2109Ter", "hgvsWellDefined": "XP_016873279.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "A", "end": 7059, "referenceAllele": "G", "start": 7058 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017791.1:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_016873280.1:p.Trp2109Ter", "hgvsWellDefined": "XP_016873280.1:p.Trp2109_Tyr2158delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValSerPheLeuPheCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569899" }, { "coordinates": [ { "allele": "T", "end": 708, "endIntronDirection": "-", "endIntronOffset": 8428, "referenceAllele": "C", "start": 708, "startIntronDirection": "-", "startIntronOffset": 8429 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001330368.2:c.641-8429C>T" ], "proteinEffect": { "hgvs": "NP_001317297.1:n.641-8429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS686900" }, { "coordinates": [ { "allele": "T", "end": 835, "endIntronDirection": "-", "endIntronOffset": 8428, "referenceAllele": "C", "start": 835, "startIntronDirection": "-", "startIntronOffset": 8429 } ], "gene": "http://reg.genome.network/gene/GN028519", "geneNCBI_id": 160140, "geneSymbol": "C11orf65", "hgvs": [ "NM_001351110.2:c.*39-8429C>T" ], "proteinEffect": { "hgvs": "NP_001338039.1:n.*39-8429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688648" }, { "@id": "http://reg.genome.network/allele/PA916033900", "coordinates": [ { "allele": "A", "end": 6564, "referenceAllele": "G", "start": 6563 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.6326G>A" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Trp2109Ter", "hgvsWellDefined": "NP_001338763.1:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "@id": "http://reg.genome.network/allele/PA166796", "coordinates": [ { "allele": "A", "end": 6476, "referenceAllele": "G", "start": 6475 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.6326G>A" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Trp2109Ter", "hgvsWellDefined": "NP_000042.3:p.Trp2109_Val3056delinsAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValLysGluValGluGluMetCysLysArgSerLeuGluSerValTyrSerLeuTyrProThrLeuSerArgLeuGlnAlaIleGlyGluLeuGluSerIleGlyGluLeuPheSerArgSerValThrHisArgGlnLeuSerGluValTyrIleLysTrpGlnLysHisSerGlnLeuLeuLysAspSerAspPheSerPheGlnGluProIleMetAlaLeuArgThrValIleLeuGluIleLeuMetGluLysGluMetAspAsnSerGlnArgGluCysIleLysAspIleLeuThrLysHisLeuValGluLeuSerIleLeuAlaArgThrPheLysAsnThrGlnLeuProGluArgAlaIlePheGlnIleLysGlnTyrAsnSerValSerCysGlyValSerGluTrpGlnLeuGluGluAlaGlnValPheTrpAlaLysLysGluGlnSerLeuAlaLeuSerIleLeuLysGlnMetIleLysLysLeuAspAlaSerCysAlaAlaAsnAsnProSerLeuLysLeuThrTyrThrGluCysLeuArgValCysGlyAsnTrpLeuAlaGluThrCysLeuGluAsnProAlaValIleMetGlnThrTyrLeuGluLysAlaValGluValAlaGlyAsnTyrAspGlyGluSerSerAspGluLeuArgAsnGlyLysMetLysAlaPheLeuSerLeuAlaArgPheSerAspThrGlnTyrGlnArgIleGluAsnTyrMetLysSerSerGluPheGluAsnLysGlnAlaLeuLeuLysArgAlaLysGluGluValGlyLeuLeuArgGluHisLysIleGlnThrAsnArgTyrThrValLysValGlnArgGluLeuGluLeuAspGluLeuAlaLeuArgAlaLeuLysGluAspArgLysArgPheLeuCysLysAlaValGluAsnTyrIleAsnCysLeuLeuSerGlyGluGluHisAspMetTrpValPheArgLeuCysSerLeuTrpLeuGluAsnSerGlyValSerGluValAsnGlyMetMetLysArgAspGlyMetLysIleProThrTyrLysPheLeuProLeuMetTyrGlnLeuAlaAlaArgMetGlyThrLysMetMetGlyGlyLeuGlyPheHisGluValLeuAsnAsnLeuIleSerArgIleSerMetAspHisProHisHisThrLeuPheIleIleLeuAlaLeuAlaAsnAlaAsnArgAspGluPheLeuThrLysProGluValAlaArgArgSerArgIleThrLysAsnValProLysGlnSerSerGlnLeuAspGluAspArgThrGluAlaAlaAsnArgIleIleCysThrIleArgSerArgArgProGlnMetValArgSerValGluAlaLeuCysAspAlaTyrIleIleLeuAlaAsnLeuAspAlaThrGlnTrpLysThrGlnArgLysGlyIleAsnIleProAlaAspGlnProIleThrLysLeuLysAsnLeuGluAspValValValProThrMetGluIleLysValAspHisThrGlyGluTyrGlyAsnLeuValThrIleGlnSerPheLysAlaGluPheArgLeuAlaGlyGlyValAsnLeuProLysIleIleAspCysValGlySerAspGlyLysGluArgArgGlnLeuValLysGlyArgAspAspLeuArgGlnAspAlaValMetGlnGlnValPheGlnMetCysAsnThrLeuLeuGlnArgAsnThrGluThrArgLysArgLysLeuThrIleCysThrTyrLysValValProLeuSerGlnArgSerGlyValLeuGluTrpCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.6326G>A" }, "RefSeq": { "hgvs": "NM_000051.4:c.6326G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Trp2109Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Trp2109Ter" } } } } ], "type": "nucleotide" }