{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA214701", "communityStandardTitle": [ "NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106835[alleleid]", "alleleId": 106835, "preferredName": "NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/101070", "RCV": [ "RCV000087327" ], "variationId": 101070 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-28229506-C-A", "id": "10-28229506-C-A", "variant": "10:28229506 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.28229506C>A?assembly=hg19", "id": "chr10:g.28229506C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.27940577C>A?assembly=hg38", "id": "chr10:g.27940577C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777199", "rs": 587777199 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-28229506-C-A?dataset=gnomad_r2_1", "id": "10-28229506-C-A", "variant": "10:28229506 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27940577-C-A?dataset=gnomad_r3", "id": "10-27940577-C-A", "variant": "10:27940577 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27940577-C-A?dataset=gnomad_r4", "id": "10-27940577-C-A", "variant": "10:27940577 C / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 27940577, "referenceAllele": "C", "start": 27940576 } ], "hgvs": [ "NC_000010.11:g.27940577C>A", "CM000672.2:g.27940577C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 28229506, "referenceAllele": "C", "start": 28229505 } ], "hgvs": [ "NC_000010.10:g.28229506C>A", "CM000672.1:g.28229506C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 28269512, "referenceAllele": "C", "start": 28269511 } ], "hgvs": [ "NC_000010.9:g.28269512C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 63474, "referenceAllele": "G", "start": 63473 } ], "hgvs": [ "NG_042820.1:g.63474G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS006022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "G", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.10:c.1972G>T" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Glu658Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745184", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.1972G>T" }, "RefSeq": { "hgvs": "NM_018076.5:c.1972G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Glu658Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Glu658Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672841.1:c.1048G>T" ], "proteinEffect": { "hgvs": "ENSP00000499983.1:p.Glu350Ter", "hgvsWellDefined": "ENSP00000499983.1:p.Glu350_Thr736delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773509" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "G", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672877.1:c.547G>T" ], "proteinEffect": { "hgvs": "ENSP00000500120.1:p.Glu183Ter", "hgvsWellDefined": "ENSP00000500120.1:p.Glu183_Ile612delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773525" }, { "coordinates": [ { "allele": "T", "end": 1663, "referenceAllele": "G", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673384.1:c.1048G>T" ], "proteinEffect": { "hgvs": "ENSP00000500856.1:p.Glu350Ter", "hgvsWellDefined": "ENSP00000500856.1:p.Glu350_Ser705delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLysAsnIlePheIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773663" }, { "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "G", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673439.1:c.1972G>T" ], "proteinEffect": { "hgvs": "ENSP00000500782.1:p.Glu658Ter", "hgvsWellDefined": "ENSP00000500782.1:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773680" }, { "coordinates": [ { "allele": "T", "end": 2065, "referenceAllele": "G", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.9:c.1972G>T" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Glu658Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255570" }, { "@id": "http://reg.genome.network/allele/PA2826772576", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "G", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.1:c.1972G>T" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Glu658Ter", "hgvsWellDefined": "NP_001276949.1:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023980" }, { "@id": "http://reg.genome.network/allele/PA2826772782", "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.1:c.547G>T" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Glu183Ter", "hgvsWellDefined": "NP_001276950.1:p.Glu183_Ile612delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023981" }, { "@id": "http://reg.genome.network/allele/PA2826943948", "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.1:c.1048G>T" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Glu350Ter", "hgvsWellDefined": "NP_001299618.1:p.Glu350_Thr736delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026454" }, { "@id": "http://reg.genome.network/allele/PA214702", "coordinates": [ { "allele": "T", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.3:c.1972G>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Glu658Ter", "hgvsWellDefined": "NP_060546.2:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246969" }, { "@id": "http://reg.genome.network/allele/PA214702", "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "G", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.4:c.1972G>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Glu658Ter", "hgvsWellDefined": "NP_060546.2:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035426" }, { "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519526.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517828.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517828.1:p.Glu658_Thr1064delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086699" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "G", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519527.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517829.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517829.1:p.Glu658_Thr1064delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086700" }, { "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "G", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519528.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517830.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517830.1:p.Glu658_Thr1064delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086701" }, { "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "G", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519529.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517831.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517831.1:p.Glu658_Thr1064delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086702" }, { "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519530.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517832.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517832.1:p.Glu658_Ser1022delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysGluGluLysAsnValGlyValAlaTyrTrpValLeuValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086703" }, { "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519531.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517833.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517833.1:p.Glu658_Ile1015delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysIleLeuTyrValSerLeuSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086704" }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "G", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519532.1:c.1762G>T" ], "proteinEffect": { "hgvs": "XP_011517834.1:p.Glu588Ter", "hgvsWellDefined": "XP_011517834.1:p.Glu588_Thr994delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086705" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "G", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519533.1:c.1048G>T" ], "proteinEffect": { "hgvs": "XP_011517835.1:p.Glu350Ter", "hgvsWellDefined": "XP_011517835.1:p.Glu350_Thr756delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086706" }, { "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519534.1:c.1048G>T" ], "proteinEffect": { "hgvs": "XP_011517836.1:p.Glu350Ter", "hgvsWellDefined": "XP_011517836.1:p.Glu350_Thr756delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086707" }, { "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519535.1:c.886G>T" ], "proteinEffect": { "hgvs": "XP_011517837.1:p.Glu296Ter", "hgvsWellDefined": "XP_011517837.1:p.Glu296_Thr702delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086708" }, { "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519536.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_011517838.1:p.Glu658Ter", "hgvsWellDefined": "XP_011517838.1:p.Glu658_Gln701delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086709" }, { "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519537.1:c.547G>T" ], "proteinEffect": { "hgvs": "XP_011517839.1:p.Glu183Ter", "hgvsWellDefined": "XP_011517839.1:p.Glu183_Thr589delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086710" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "G", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_017016371.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_016871860.1:p.Glu658Ter", "hgvsWellDefined": "XP_016871860.1:p.Glu658_Gln701delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568833" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "G", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448049.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_024303817.1:p.Glu658Ter", "hgvsWellDefined": "XP_024303817.1:p.Glu658_Thr1107delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581629" }, { "coordinates": [ { "allele": "T", "end": 2187, "referenceAllele": "G", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448050.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_024303818.1:p.Glu658Ter", "hgvsWellDefined": "XP_024303818.1:p.Glu658_Thr1107delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581630" }, { "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448051.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_024303819.1:p.Glu658Ter", "hgvsWellDefined": "XP_024303819.1:p.Glu658_Thr1107delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581631" }, { "coordinates": [ { "allele": "T", "end": 2026, "referenceAllele": "G", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448052.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_024303820.1:p.Glu658Ter", "hgvsWellDefined": "XP_024303820.1:p.Glu658_Thr1107delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581632" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "G", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448053.1:c.1972G>T" ], "proteinEffect": { "hgvs": "XP_024303821.1:p.Glu658Ter", "hgvsWellDefined": "XP_024303821.1:p.Glu658_Thr1087delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581633" }, { "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "G", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448054.1:c.1762G>T" ], "proteinEffect": { "hgvs": "XP_024303822.1:p.Glu588Ter", "hgvsWellDefined": "XP_024303822.1:p.Glu588_Thr1037delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581634" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448055.1:c.1048G>T" ], "proteinEffect": { "hgvs": "XP_024303823.1:p.Glu350Ter", "hgvsWellDefined": "XP_024303823.1:p.Glu350_Thr799delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581635" }, { "coordinates": [ { "allele": "T", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448056.1:c.1048G>T" ], "proteinEffect": { "hgvs": "XP_024303824.1:p.Glu350Ter", "hgvsWellDefined": "XP_024303824.1:p.Glu350_Thr799delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581636" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448057.1:c.886G>T" ], "proteinEffect": { "hgvs": "XP_024303825.1:p.Glu296Ter", "hgvsWellDefined": "XP_024303825.1:p.Glu296_Thr745delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581637" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "G", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448058.1:c.547G>T" ], "proteinEffect": { "hgvs": "XP_024303826.1:p.Glu183Ter", "hgvsWellDefined": "XP_024303826.1:p.Glu183_Thr632delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581638" }, { "@id": "http://reg.genome.network/allele/PA2826772576", "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "G", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.2:c.1972G>T" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Glu658Ter", "hgvsWellDefined": "NP_001276949.1:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682684" }, { "@id": "http://reg.genome.network/allele/PA2826772782", "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "G", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.2:c.547G>T" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Glu183Ter", "hgvsWellDefined": "NP_001276950.1:p.Glu183_Ile612delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682685" }, { "@id": "http://reg.genome.network/allele/PA2826943948", "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.2:c.1048G>T" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Glu350Ter", "hgvsWellDefined": "NP_001299618.1:p.Glu350_Thr736delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684094" }, { "@id": "http://reg.genome.network/allele/PA214702", "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "G", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.5:c.1972G>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Glu658Ter", "hgvsWellDefined": "NP_060546.2:p.Glu658_Thr1044delinsCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.1972G>T" }, "RefSeq": { "hgvs": "NM_018076.5:c.1972G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Glu658Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Glu658Ter" } } } } ], "type": "nucleotide" }