{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043434", "communityStandardTitle": [ "NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360900[alleleid]", "alleleId": 360900, "preferredName": "NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374090", "RCV": [ "RCV000415206" ], "variationId": 374090 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.61767038C>T?assembly=hg19", "id": "chr8:g.61767038C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.60854479C>T?assembly=hg38", "id": "chr8:g.60854479C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518891", "rs": 1057518891 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 60854479, "referenceAllele": "C", "start": 60854478 } ], "hgvs": [ "NC_000008.11:g.60854479C>T", "CM000670.2:g.60854479C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 61767038, "referenceAllele": "C", "start": 61767037 } ], "hgvs": [ "NC_000008.10:g.61767038C>T", "CM000670.1:g.61767038C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 61929592, "referenceAllele": "C", "start": 61929591 } ], "hgvs": [ "NC_000008.9:g.61929592C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 180700, "referenceAllele": "C", "start": 180699 } ], "hgvs": [ "NG_007009.1:g.180700C>T", "LRG_176:g.180700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000443" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7288, "endIntronDirection": "+", "endIntronOffset": 979, "referenceAllele": "C", "start": 7288, "startIntronDirection": "+", "startIntronOffset": 978 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "ENST00000695853.1:c.6775+979C>T" ], "proteinEffect": { "hgvs": "ENSP00000512218.1:n.6775+979C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907350" }, { "coordinates": [ { "allele": "T", "end": 7409, "referenceAllele": "C", "start": 7408 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "ENST00000423902.7:c.6892C>T" ], "proteinEffect": { "hgvs": "ENSP00000392028.1:p.Gln2298Ter", "hgvsWellDefined": "ENSP00000392028.1:p.Gln2298_Glu2997delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755001", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423902.7:c.6892C>T" }, "RefSeq": { "hgvs": "NM_017780.4:c.6892C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392028.1:p.Gln2298Ter" }, "RefSeq": { "hgvs": "NP_060250.2:p.Gln2298Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7371, "referenceAllele": "C", "start": 7370 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "ENST00000423902.6:c.6892C>T" ], "proteinEffect": { "hgvs": "ENSP00000392028.1:p.Gln2298Ter", "hgvsWellDefined": "ENSP00000392028.1:p.Gln2298_Glu2997delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287994" }, { "coordinates": [ { "allele": "T", "end": 1784, "endIntronDirection": "-", "endIntronOffset": 7749, "referenceAllele": "C", "start": 1784, "startIntronDirection": "-", "startIntronOffset": 7750 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "ENST00000524602.5:c.1717-7750C>T" ], "proteinEffect": { "hgvs": "ENSP00000437061.1:n.1717-7750C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS350734" }, { "coordinates": [ { "allele": "T", "end": 1890, "endIntronDirection": "-", "endIntronOffset": 7749, "referenceAllele": "C", "start": 1890, "startIntronDirection": "-", "startIntronOffset": 7750 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "NM_001316690.1:c.1717-7750C>T" ], "proteinEffect": { "hgvs": "NP_001303619.1:n.1717-7750C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026606" }, { "@id": "http://reg.genome.network/allele/PA645399657", "coordinates": [ { "allele": "T", "end": 7384, "referenceAllele": "C", "start": 7383 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "NM_017780.3:c.6892C>T" ], "proteinEffect": { "hgvs": "NP_060250.2:p.Gln2298Ter", "hgvsWellDefined": "NP_060250.2:p.Gln2298_Glu2997delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035187" }, { "coordinates": [ { "allele": "T", "end": 7477, "referenceAllele": "C", "start": 7476 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517553.1:c.6982C>T" ], "proteinEffect": { "hgvs": "XP_011515855.1:p.Gln2328Ter", "hgvsWellDefined": "XP_011515855.1:p.Gln2328_Glu3027delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084741" }, { "coordinates": [ { "allele": "T", "end": 7384, "referenceAllele": "C", "start": 7383 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517554.1:c.6982C>T" ], "proteinEffect": { "hgvs": "XP_011515856.1:p.Gln2328Ter", "hgvsWellDefined": "XP_011515856.1:p.Gln2328_Glu3027delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084742" }, { "coordinates": [ { "allele": "T", "end": 7474, "referenceAllele": "C", "start": 7473 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517555.1:c.6979C>T" ], "proteinEffect": { "hgvs": "XP_011515857.1:p.Gln2327Ter", "hgvsWellDefined": "XP_011515857.1:p.Gln2327_Glu3026delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084743" }, { "coordinates": [ { "allele": "T", "end": 7477, "referenceAllele": "C", "start": 7476 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517556.1:c.6982C>T" ], "proteinEffect": { "hgvs": "XP_011515858.1:p.Gln2328Ter", "hgvsWellDefined": "XP_011515858.1:p.Gln2328_Glu2953delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084744" }, { "coordinates": [ { "allele": "T", "end": 5234, "referenceAllele": "C", "start": 5233 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517557.1:c.4969C>T" ], "proteinEffect": { "hgvs": "XP_011515859.1:p.Gln1657Ter", "hgvsWellDefined": "XP_011515859.1:p.Gln1657_Glu2356delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084745" }, { "coordinates": [ { "allele": "T", "end": 4589, "referenceAllele": "C", "start": 4588 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517558.1:c.4519C>T" ], "proteinEffect": { "hgvs": "XP_011515860.1:p.Gln1507Ter", "hgvsWellDefined": "XP_011515860.1:p.Gln1507_Glu2206delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084746" }, { "coordinates": [ { "allele": "T", "end": 4729, "referenceAllele": "C", "start": 4728 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517559.1:c.3727C>T" ], "proteinEffect": { "hgvs": "XP_011515861.1:p.Gln1243Ter", "hgvsWellDefined": "XP_011515861.1:p.Gln1243_Glu1942delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084747" }, { "coordinates": [ { "allele": "T", "end": 7495, "referenceAllele": "C", "start": 7494 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517553.2:c.6982C>T" ], "proteinEffect": { "hgvs": "XP_011515855.1:p.Gln2328Ter", "hgvsWellDefined": "XP_011515855.1:p.Gln2328_Glu3027delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544575" }, { "coordinates": [ { "allele": "T", "end": 7281, "referenceAllele": "C", "start": 7280 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517554.3:c.6982C>T" ], "proteinEffect": { "hgvs": "XP_011515856.1:p.Gln2328Ter", "hgvsWellDefined": "XP_011515856.1:p.Gln2328_Glu3027delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544576" }, { "coordinates": [ { "allele": "T", "end": 7492, "referenceAllele": "C", "start": 7491 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_011517555.2:c.6979C>T" ], "proteinEffect": { "hgvs": "XP_011515857.1:p.Gln2327Ter", "hgvsWellDefined": "XP_011515857.1:p.Gln2327_Glu3026delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544577" }, { "coordinates": [ { "allele": "T", "end": 7549, "referenceAllele": "C", "start": 7548 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_017013612.1:c.6982C>T" ], "proteinEffect": { "hgvs": "XP_016869101.1:p.Gln2328Ter", "hgvsWellDefined": "XP_016869101.1:p.Gln2328_Glu3027delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566857" }, { "coordinates": [ { "allele": "T", "end": 7402, "referenceAllele": "C", "start": 7401 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "XM_017013613.1:c.6889C>T" ], "proteinEffect": { "hgvs": "XP_016869102.1:p.Gln2297Ter", "hgvsWellDefined": "XP_016869102.1:p.Gln2297_Glu2996delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566858" }, { "@id": "http://reg.genome.network/allele/PA645399657", "coordinates": [ { "allele": "T", "end": 7409, "referenceAllele": "C", "start": 7408 } ], "gene": "http://reg.genome.network/gene/GN020626", "geneNCBI_id": 55636, "geneSymbol": "CHD7", "hgvs": [ "NM_017780.4:c.6892C>T" ], "proteinEffect": { "hgvs": "NP_060250.2:p.Gln2298Ter", "hgvsWellDefined": "NP_060250.2:p.Gln2298_Glu2997delinsLeuLeuHisGluArgThrPheAlaPheSerPheTrpProLysAspArgValMetIleAsnArgLeuAspAsnIleCysGluAlaValLeuLysGlyLysTrpProValAsnArgArgGlnMetPheAspPheGlnGlyLeuIleProGlyTyrThrProThrThrValAspSerProLeuGlnLysArgSerPheAlaGluLeuSerMetValGlyGlnAlaSerIleSerGlySerGluAspIleThrThrSerProGlnLeuSerLysGluAspAlaLeuAsnLeuSerValProArgGlnArgArgArgArgArgArgLysIleGluIleGluAlaGluArgAlaAlaLysArgArgAsnLeuMetGluMetValAlaGlnLeuArgGluSerGlnValValSerGluAsnGlyGlnGluLysValValAspLeuSerLysAlaSerArgGluAlaThrSerSerThrSerAsnPheSerSerLeuSerSerLysPheIleLeuProAsnValSerThrProValSerAspAlaPheLysThrGlnMetGluLeuLeuGlnAlaGlyLeuSerArgThrProThrArgHisLeuLeuAsnGlySerLeuValAspGlyGluProProMetLysArgArgArgGlyArgArgLysAsnValGluGlyLeuAspLeuLeuPheMetSerHisLysArgThrSerLeuSerAlaGluAspAlaGluValThrLysAlaPheGluGluAspIleGluThrProProThrArgAsnIleProSerProGlyGlnLeuAspProAspThrArgIleProValIleAsnLeuGluAspGlyThrArgLeuValGlyGluAspAlaProLysAsnLysAspLeuValGluTrpLeuLysLeuHisProThrTyrThrValAspMetProSerTyrValProLysAsnAlaAspValLeuPheSerSerPheGlnLysProLysGlnLysArgHisArgCysArgAsnProAsnLysLeuAspIleAsnThrLeuThrGlyGluGluArgValProValValAsnLysArgAsnGlyLysLysMetGlyGlyAlaMetAlaProProMetLysAspLeuProArgTrpLeuGluGluAsnProGluPheAlaValAlaProAspTrpThrAspIleValLysGlnSerGlyPheValProGluSerMetPheAspArgLeuLeuThrGlyProValValArgGlyGluGlyAlaSerArgArgGlyArgArgProLysSerGluIleAlaArgAlaAlaAlaAlaAlaAlaAlaValAlaSerThrSerGlyIleAsnProLeuLeuValAsnSerLeuPheAlaGlyMetAspLeuThrSerLeuGlnAsnLeuGlnAsnLeuGlnSerLeuGlnLeuAlaGlyLeuMetGlyPheProProGlyLeuAlaThrAlaAlaThrAlaGlyGlyAspAlaLysAsnProAlaAlaValLeuProLeuMetLeuProGlyMetAlaGlyLeuProAsnValPheGlyLeuGlyGlyLeuLeuAsnAsnProLeuSerAlaAlaThrGlyAsnThrThrThrAlaSerSerGlnGlyGluProGluAspSerThrSerLysGlyGluGluLysGlyAsnGluAsnGluAspGluAsnLysAspSerGluLysSerThrAspAlaValSerAlaAlaAspSerAlaAsnGlySerValGlyAlaAlaThrAlaProAlaGlyLeuProSerAsnProLeuAlaPheAsnProPheLeuLeuSerThrMetAlaProGlyLeuPheTyrProSerMetPheLeuProProGlyLeuGlyGlyLeuThrLeuProGlyPheProAlaLeuAlaGlyLeuGlnAsnAlaValGlySerSerGluGluLysAlaAlaAspLysAlaGluGlyGlyProPheLysAspGlyGluThrLeuGluGlySerAspAlaGluGluSerLeuAspLysThrAlaGluSerSerLeuLeuGluAspGluIleAlaGlnGlyGluGluLeuAspSerLeuAspGlyGlyAspGluIleGluAsnAsnGluAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669365", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423902.7:c.6892C>T" }, "RefSeq": { "hgvs": "NM_017780.4:c.6892C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000392028.1:p.Gln2298Ter" }, "RefSeq": { "hgvs": "NP_060250.2:p.Gln2298Ter" } } } } ], "type": "nucleotide" }