{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5453275", "communityStandardTitle": [ "NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243962[alleleid]", "alleleId": 243962, "preferredName": "NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242859", "RCV": [ "RCV000234856", "RCV001579688" ], "variationId": 242859 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-28225688-C-T", "id": "10-28225688-C-T", "variant": "10:28225688 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.28225688C>T?assembly=hg19", "id": "chr10:g.28225688C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.27936759C>T?assembly=hg38", "id": "chr10:g.27936759C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201213030", "rs": 201213030 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-28225688-C-T?dataset=gnomad_r2_1", "id": "10-28225688-C-T", "variant": "10:28225688 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27936759-C-T?dataset=gnomad_r3", "id": "10-27936759-C-T", "variant": "10:27936759 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27936759-C-T?dataset=gnomad_r4", "id": "10-27936759-C-T", "variant": "10:27936759 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 27936759, "referenceAllele": "C", "start": 27936758 } ], "hgvs": [ "NC_000010.11:g.27936759C>T", "CM000672.2:g.27936759C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 28225688, "referenceAllele": "C", "start": 28225687 } ], "hgvs": [ "NC_000010.10:g.28225688C>T", "CM000672.1:g.28225688C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 28265694, "referenceAllele": "C", "start": 28265693 } ], "hgvs": [ "NC_000010.9:g.28265694C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 67292, "referenceAllele": "G", "start": 67291 } ], "hgvs": [ "NG_042820.1:g.67292G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS006022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2343, "referenceAllele": "G", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.10:c.2219G>A" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Trp740Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745184", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.2219G>A" }, "RefSeq": { "hgvs": "NM_018076.5:c.2219G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Trp740Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Trp740Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1578, "referenceAllele": "G", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672841.1:c.1295G>A" ], "proteinEffect": { "hgvs": "ENSP00000499983.1:p.Trp432Ter", "hgvsWellDefined": "ENSP00000499983.1:p.Trp432_Thr736delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773509" }, { "coordinates": [ { "allele": "A", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672877.1:c.794G>A" ], "proteinEffect": { "hgvs": "ENSP00000500120.1:p.Trp265Ter", "hgvsWellDefined": "ENSP00000500120.1:p.Trp265_Ile612delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773525" }, { "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "G", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673384.1:c.1295G>A" ], "proteinEffect": { "hgvs": "ENSP00000500856.1:p.Trp432Ter", "hgvsWellDefined": "ENSP00000500856.1:p.Trp432_Ser705delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLysAsnIlePheIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773663" }, { "coordinates": [ { "allele": "A", "end": 2317, "referenceAllele": "G", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673439.1:c.2219G>A" ], "proteinEffect": { "hgvs": "ENSP00000500782.1:p.Trp740Ter", "hgvsWellDefined": "ENSP00000500782.1:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773680" }, { "coordinates": [ { "allele": "A", "end": 2312, "referenceAllele": "G", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.9:c.2219G>A" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Trp740Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255570" }, { "@id": "http://reg.genome.network/allele/PA2826772610", "coordinates": [ { "allele": "A", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.1:c.2219G>A" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Trp740Ter", "hgvsWellDefined": "NP_001276949.1:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023980" }, { "@id": "http://reg.genome.network/allele/PA2826772816", "coordinates": [ { "allele": "A", "end": 1187, "referenceAllele": "G", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.1:c.794G>A" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Trp265Ter", "hgvsWellDefined": "NP_001276950.1:p.Trp265_Ile612delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023981" }, { "@id": "http://reg.genome.network/allele/PA2826943982", "coordinates": [ { "allele": "A", "end": 1578, "referenceAllele": "G", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.1:c.1295G>A" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Trp432Ter", "hgvsWellDefined": "NP_001299618.1:p.Trp432_Thr736delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026454" }, { "@id": "http://reg.genome.network/allele/PA645395327", "coordinates": [ { "allele": "A", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.3:c.2219G>A" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Trp740Ter", "hgvsWellDefined": "NP_060546.2:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246969" }, { "@id": "http://reg.genome.network/allele/PA645395327", "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.4:c.2219G>A" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Trp740Ter", "hgvsWellDefined": "NP_060546.2:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035426" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "G", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519526.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517828.1:p.Trp740Ter", "hgvsWellDefined": "XP_011517828.1:p.Trp740_Thr1064delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086699" }, { "coordinates": [ { "allele": "A", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519527.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517829.1:p.Trp740Ter", "hgvsWellDefined": "XP_011517829.1:p.Trp740_Thr1064delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086700" }, { "coordinates": [ { "allele": "A", "end": 3011, "referenceAllele": "G", "start": 3010 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519528.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517830.1:p.Trp740Ter", "hgvsWellDefined": "XP_011517830.1:p.Trp740_Thr1064delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086701" }, { "coordinates": [ { "allele": "A", "end": 2331, "referenceAllele": "G", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519529.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517831.1:p.Trp740Ter", "hgvsWellDefined": "XP_011517831.1:p.Trp740_Thr1064delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086702" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "G", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519530.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517832.1:p.Trp740Ter", "hgvsWellDefined": "XP_011517832.1:p.Trp740_Ser1022delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysGluGluLysAsnValGlyValAlaTyrTrpValLeuValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086703" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "G", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519531.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517833.1:p.Trp740Ter", "hgvsWellDefined": "XP_011517833.1:p.Trp740_Ile1015delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysIleLeuTyrValSerLeuSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086704" }, { "coordinates": [ { "allele": "A", "end": 2217, "referenceAllele": "G", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519532.1:c.2009G>A" ], "proteinEffect": { "hgvs": "XP_011517834.1:p.Trp670Ter", "hgvsWellDefined": "XP_011517834.1:p.Trp670_Thr994delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086705" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "G", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519533.1:c.1295G>A" ], "proteinEffect": { "hgvs": "XP_011517835.1:p.Trp432Ter", "hgvsWellDefined": "XP_011517835.1:p.Trp432_Thr756delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086706" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519534.1:c.1295G>A" ], "proteinEffect": { "hgvs": "XP_011517836.1:p.Trp432Ter", "hgvsWellDefined": "XP_011517836.1:p.Trp432_Thr756delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086707" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519535.1:c.1133G>A" ], "proteinEffect": { "hgvs": "XP_011517837.1:p.Trp378Ter", "hgvsWellDefined": "XP_011517837.1:p.Trp378_Thr702delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086708" }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519537.1:c.794G>A" ], "proteinEffect": { "hgvs": "XP_011517839.1:p.Trp265Ter", "hgvsWellDefined": "XP_011517839.1:p.Trp265_Thr589delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" 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"XP_024303826.1:p.Trp265_Thr632delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581638" }, { "@id": "http://reg.genome.network/allele/PA2826772610", "coordinates": [ { "allele": "A", "end": 2352, "referenceAllele": "G", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.2:c.2219G>A" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Trp740Ter", "hgvsWellDefined": "NP_001276949.1:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682684" }, { "@id": "http://reg.genome.network/allele/PA2826772816", "coordinates": [ { "allele": "A", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.2:c.794G>A" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Trp265Ter", "hgvsWellDefined": "NP_001276950.1:p.Trp265_Ile612delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682685" }, { "@id": "http://reg.genome.network/allele/PA2826943982", "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.2:c.1295G>A" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Trp432Ter", "hgvsWellDefined": "NP_001299618.1:p.Trp432_Thr736delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684094" }, { "@id": "http://reg.genome.network/allele/PA645395327", "coordinates": [ { "allele": "A", "end": 2343, "referenceAllele": "G", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.5:c.2219G>A" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Trp740Ter", "hgvsWellDefined": "NP_060546.2:p.Trp740_Thr1044delinsLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.2219G>A" }, "RefSeq": { "hgvs": "NM_018076.5:c.2219G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Trp740Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Trp740Ter" } } } } ], "type": "nucleotide" }