{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA346942", "communityStandardTitle": [ "NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205561[alleleid]", "alleleId": 205561, "preferredName": "NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208997", "RCV": [ "RCV000234898", "RCV000725126" ], "variationId": 208997 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-28233225-C-A", "id": "10-28233225-C-A", "variant": "10:28233225 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.28233225C>A?assembly=hg19", "id": "chr10:g.28233225C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.27944296C>A?assembly=hg38", "id": "chr10:g.27944296C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/145742175", "rs": 145742175 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-28233225-C-A?dataset=gnomad_r2_1", "id": "10-28233225-C-A", "variant": "10:28233225 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27944296-C-A?dataset=gnomad_r3", "id": "10-27944296-C-A", "variant": "10:27944296 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27944296-C-A?dataset=gnomad_r4", "id": "10-27944296-C-A", "variant": "10:27944296 C / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 27944296, "referenceAllele": "C", "start": 27944295 } ], "hgvs": [ "NC_000010.11:g.27944296C>A", "CM000672.2:g.27944296C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 28233225, "referenceAllele": "C", "start": 28233224 } ], "hgvs": [ "NC_000010.10:g.28233225C>A", "CM000672.1:g.28233225C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 28273231, "referenceAllele": "C", "start": 28273230 } ], "hgvs": [ "NC_000010.9:g.28273231C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 59755, "referenceAllele": "G", "start": 59754 } ], "hgvs": [ "NG_042820.1:g.59755G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS006022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1793, "referenceAllele": "G", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.10:c.1669G>T" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Glu557Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745184", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.1669G>T" }, "RefSeq": { "hgvs": "NM_018076.5:c.1669G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Glu557Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Glu557Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672841.1:c.745G>T" ], "proteinEffect": { "hgvs": "ENSP00000499983.1:p.Glu249Ter", "hgvsWellDefined": "ENSP00000499983.1:p.Glu249_Thr736delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773509" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672877.1:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000500120.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000500120.1:p.Glu82_Ile612delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773525" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673384.1:c.745G>T" ], "proteinEffect": { "hgvs": "ENSP00000500856.1:p.Glu249Ter", "hgvsWellDefined": "ENSP00000500856.1:p.Glu249_Ser705delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLysAsnIlePheIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773663" }, { "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673439.1:c.1669G>T" ], "proteinEffect": { "hgvs": "ENSP00000500782.1:p.Glu557Ter", "hgvsWellDefined": "ENSP00000500782.1:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773680" }, { "coordinates": [ { "allele": "T", "end": 1762, "referenceAllele": "G", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.9:c.1669G>T" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Glu557Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255570" }, { "@id": "http://reg.genome.network/allele/PA2826772530", "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.1:c.1669G>T" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Glu557Ter", "hgvsWellDefined": "NP_001276949.1:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023980" }, { "@id": "http://reg.genome.network/allele/PA916017318", "coordinates": [ { "allele": "T", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.1:c.244G>T" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Glu82Ter", "hgvsWellDefined": "NP_001276950.1:p.Glu82_Ile612delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023981" }, { "@id": "http://reg.genome.network/allele/PA2826943901", "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.1:c.745G>T" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Glu249Ter", "hgvsWellDefined": "NP_001299618.1:p.Glu249_Thr736delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026454" }, { "@id": "http://reg.genome.network/allele/PA346943", "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "G", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.3:c.1669G>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Glu557Ter", "hgvsWellDefined": "NP_060546.2:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246969" }, { "@id": "http://reg.genome.network/allele/PA346943", "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.4:c.1669G>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Glu557Ter", "hgvsWellDefined": "NP_060546.2:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035426" }, { "coordinates": [ { "allele": "T", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519526.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517828.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517828.1:p.Glu557_Thr1064delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086699" }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519527.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517829.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517829.1:p.Glu557_Thr1064delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086700" }, { "coordinates": [ { "allele": "T", "end": 2461, "referenceAllele": "G", "start": 2460 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519528.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517830.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517830.1:p.Glu557_Thr1064delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086701" }, { "coordinates": [ { "allele": "T", "end": 1781, "referenceAllele": "G", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519529.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517831.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517831.1:p.Glu557_Thr1064delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086702" }, { "coordinates": [ { "allele": "T", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519530.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517832.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517832.1:p.Glu557_Ser1022delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysGluGluLysAsnValGlyValAlaTyrTrpValLeuValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086703" }, { "coordinates": [ { "allele": "T", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519531.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517833.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517833.1:p.Glu557_Ile1015delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysIleLeuTyrValSerLeuSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086704" }, { "coordinates": [ { "allele": "T", "end": 1741, "endIntronDirection": "+", "endIntronOffset": 520, "referenceAllele": "G", "start": 1741, "startIntronDirection": "+", "startIntronOffset": 519 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519532.1:c.1533+520G>T" ], "proteinEffect": { "hgvs": "XP_011517834.1:n.1533+520G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS086705" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519533.1:c.745G>T" ], "proteinEffect": { "hgvs": "XP_011517835.1:p.Glu249Ter", "hgvsWellDefined": "XP_011517835.1:p.Glu249_Thr756delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086706" }, { "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519534.1:c.745G>T" ], "proteinEffect": { "hgvs": "XP_011517836.1:p.Glu249Ter", "hgvsWellDefined": "XP_011517836.1:p.Glu249_Thr756delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086707" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519535.1:c.583G>T" ], "proteinEffect": { "hgvs": "XP_011517837.1:p.Glu195Ter", "hgvsWellDefined": "XP_011517837.1:p.Glu195_Thr702delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086708" }, { "coordinates": [ { "allele": "T", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519536.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_011517838.1:p.Glu557Ter", "hgvsWellDefined": "XP_011517838.1:p.Glu557_Gln701delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086709" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519537.1:c.244G>T" ], "proteinEffect": { "hgvs": "XP_011517839.1:p.Glu82Ter", "hgvsWellDefined": "XP_011517839.1:p.Glu82_Thr589delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086710" }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_017016371.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_016871860.1:p.Glu557Ter", "hgvsWellDefined": "XP_016871860.1:p.Glu557_Gln701delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568833" }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448049.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_024303817.1:p.Glu557Ter", "hgvsWellDefined": "XP_024303817.1:p.Glu557_Thr1107delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581629" }, { "coordinates": [ { "allele": "T", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448050.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_024303818.1:p.Glu557Ter", "hgvsWellDefined": "XP_024303818.1:p.Glu557_Thr1107delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581630" }, { "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "G", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448051.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_024303819.1:p.Glu557Ter", "hgvsWellDefined": "XP_024303819.1:p.Glu557_Thr1107delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581631" }, { "coordinates": [ { "allele": "T", "end": 1723, "referenceAllele": "G", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448052.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_024303820.1:p.Glu557Ter", "hgvsWellDefined": "XP_024303820.1:p.Glu557_Thr1107delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581632" }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448053.1:c.1669G>T" ], "proteinEffect": { "hgvs": "XP_024303821.1:p.Glu557Ter", "hgvsWellDefined": "XP_024303821.1:p.Glu557_Thr1087delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581633" }, { "coordinates": [ { "allele": "T", "end": 1675, "endIntronDirection": "+", "endIntronOffset": 520, "referenceAllele": "G", "start": 1675, "startIntronDirection": "+", "startIntronOffset": 519 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448054.1:c.1533+520G>T" ], "proteinEffect": { "hgvs": "XP_024303822.1:n.1533+520G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS581634" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "G", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448055.1:c.745G>T" ], "proteinEffect": { "hgvs": "XP_024303823.1:p.Glu249Ter", "hgvsWellDefined": "XP_024303823.1:p.Glu249_Thr799delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581635" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "G", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448056.1:c.745G>T" ], "proteinEffect": { "hgvs": "XP_024303824.1:p.Glu249Ter", "hgvsWellDefined": "XP_024303824.1:p.Glu249_Thr799delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581636" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "G", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448057.1:c.583G>T" ], "proteinEffect": { "hgvs": "XP_024303825.1:p.Glu195Ter", "hgvsWellDefined": "XP_024303825.1:p.Glu195_Thr745delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581637" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448058.1:c.244G>T" ], "proteinEffect": { "hgvs": "XP_024303826.1:p.Glu82Ter", "hgvsWellDefined": "XP_024303826.1:p.Glu82_Thr632delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581638" }, { "@id": "http://reg.genome.network/allele/PA2826772530", "coordinates": [ { "allele": "T", "end": 1802, "referenceAllele": "G", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.2:c.1669G>T" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Glu557Ter", "hgvsWellDefined": "NP_001276949.1:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682684" }, { "@id": "http://reg.genome.network/allele/PA916017318", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.2:c.244G>T" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Glu82Ter", "hgvsWellDefined": "NP_001276950.1:p.Glu82_Ile612delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682685" }, { "@id": "http://reg.genome.network/allele/PA2826943901", "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "G", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.2:c.745G>T" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Glu249Ter", "hgvsWellDefined": "NP_001299618.1:p.Glu249_Thr736delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684094" }, { "@id": "http://reg.genome.network/allele/PA346943", "coordinates": [ { "allele": "T", "end": 1793, "referenceAllele": "G", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.5:c.1669G>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Glu557Ter", "hgvsWellDefined": "NP_060546.2:p.Glu557_Thr1044delinsThrIleAlaAsnValAlaLysPheLysArgAlaArgArgValValArgGlnHisGlyGlyIleThrLysLeuValAlaLeuLeuAspCysAlaHisAspSerThrLysProAlaGlnSerSerLeuTyrGluAlaArgAspValGluValAlaArgCysGlyAlaLeuAlaLeuTrpSerCysSerLysSerHisThrAsnLysGluAlaIleArgLysAlaGlyGlyIleProLeuLeuAlaArgLeuLeuLysThrSerHisGluAsnMetLeuIleProValValGlyThrLeuGlnGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.1669G>T" }, "RefSeq": { "hgvs": "NM_018076.5:c.1669G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Glu557Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Glu557Ter" } } } } ], "type": "nucleotide" }