{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10584011", "communityStandardTitle": [ "NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243964[alleleid]", "alleleId": 243964, "preferredName": "NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242858", "RCV": [ "RCV000234900" ], "variationId": 242858 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.28229509G>A?assembly=hg19", "id": "chr10:g.28229509G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.27940580G>A?assembly=hg38", "id": "chr10:g.27940580G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/868755574", "rs": 868755574 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-28229509-G-A?dataset=gnomad_r2_1", "id": "10-28229509-G-A", "variant": "10:28229509 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27940580-G-A?dataset=gnomad_r3", "id": "10-27940580-G-A", "variant": "10:27940580 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-27940580-G-A?dataset=gnomad_r4", "id": "10-27940580-G-A", "variant": "10:27940580 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 27940580, "referenceAllele": "G", "start": 27940579 } ], "hgvs": [ "NC_000010.11:g.27940580G>A", "CM000672.2:g.27940580G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 28229509, "referenceAllele": "G", "start": 28229508 } ], "hgvs": [ "NC_000010.10:g.28229509G>A", "CM000672.1:g.28229509G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 28269515, "referenceAllele": "G", "start": 28269514 } ], "hgvs": [ "NC_000010.9:g.28269515G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 63471, "referenceAllele": "C", "start": 63470 } ], "hgvs": [ "NG_042820.1:g.63471C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS006022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.10:c.1969C>T" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Gln657Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745184", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.1969C>T" }, "RefSeq": { "hgvs": "NM_018076.5:c.1969C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Gln657Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Gln657Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672841.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000499983.1:p.Gln349Ter", "hgvsWellDefined": "ENSP00000499983.1:p.Gln349_Thr736delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773509" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000672877.1:c.544C>T" ], "proteinEffect": { "hgvs": "ENSP00000500120.1:p.Gln182Ter", "hgvsWellDefined": "ENSP00000500120.1:p.Gln182_Ile612delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773525" }, { "coordinates": [ { "allele": "T", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673384.1:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000500856.1:p.Gln349Ter", "hgvsWellDefined": "ENSP00000500856.1:p.Gln349_Ser705delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLysAsnIlePheIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773663" }, { "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "C", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000673439.1:c.1969C>T" ], "proteinEffect": { "hgvs": "ENSP00000500782.1:p.Gln657Ter", "hgvsWellDefined": "ENSP00000500782.1:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773680" }, { "coordinates": [ { "allele": "T", "end": 2062, "referenceAllele": "C", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "ENST00000305242.9:c.1969C>T" ], "proteinEffect": { "hgvs": "ENSP00000306410.5:p.Gln657Ter", "hgvsWellDefined": "ENSP00000306410.5:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255570" }, { "@id": "http://reg.genome.network/allele/PA2826772575", "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.1:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Gln657Ter", "hgvsWellDefined": "NP_001276949.1:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023980" }, { "@id": "http://reg.genome.network/allele/PA2826772781", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.1:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Gln182Ter", "hgvsWellDefined": "NP_001276950.1:p.Gln182_Ile612delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023981" }, { "@id": "http://reg.genome.network/allele/PA2826943947", "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.1:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Gln349Ter", "hgvsWellDefined": "NP_001299618.1:p.Gln349_Thr736delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026454" }, { "@id": "http://reg.genome.network/allele/PA645395323", "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "C", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.3:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Gln657Ter", "hgvsWellDefined": "NP_060546.2:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246969" }, { "@id": "http://reg.genome.network/allele/PA645395323", "coordinates": [ { "allele": "T", "end": 2064, "referenceAllele": "C", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.4:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Gln657Ter", "hgvsWellDefined": "NP_060546.2:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035426" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519526.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517828.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517828.1:p.Gln657_Thr1064delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086699" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519527.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517829.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517829.1:p.Gln657_Thr1064delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086700" }, { "coordinates": [ { "allele": "T", "end": 2761, "referenceAllele": "C", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519528.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517830.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517830.1:p.Gln657_Thr1064delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086701" }, { "coordinates": [ { "allele": "T", "end": 2081, "referenceAllele": "C", "start": 2080 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519529.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517831.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517831.1:p.Gln657_Thr1064delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086702" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519530.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517832.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517832.1:p.Gln657_Ser1022delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysGluGluLysAsnValGlyValAlaTyrTrpValLeuValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086703" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519531.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517833.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517833.1:p.Gln657_Ile1015delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysIleLeuTyrValSerLeuSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086704" }, { "coordinates": [ { "allele": "T", "end": 1967, "referenceAllele": "C", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519532.1:c.1759C>T" ], "proteinEffect": { "hgvs": "XP_011517834.1:p.Gln587Ter", "hgvsWellDefined": "XP_011517834.1:p.Gln587_Thr994delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086705" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519533.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_011517835.1:p.Gln349Ter", "hgvsWellDefined": "XP_011517835.1:p.Gln349_Thr756delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086706" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519534.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_011517836.1:p.Gln349Ter", "hgvsWellDefined": "XP_011517836.1:p.Gln349_Thr756delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086707" }, { "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519535.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_011517837.1:p.Gln295Ter", "hgvsWellDefined": "XP_011517837.1:p.Gln295_Thr702delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086708" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519536.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_011517838.1:p.Gln657Ter", "hgvsWellDefined": "XP_011517838.1:p.Gln657_Gln701delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086709" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_011519537.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011517839.1:p.Gln182Ter", "hgvsWellDefined": "XP_011517839.1:p.Gln182_Thr589delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086710" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_017016371.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_016871860.1:p.Gln657Ter", "hgvsWellDefined": "XP_016871860.1:p.Gln657_Gln701delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568833" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448049.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_024303817.1:p.Gln657Ter", "hgvsWellDefined": "XP_024303817.1:p.Gln657_Thr1107delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581629" }, { "coordinates": [ { "allele": "T", "end": 2184, "referenceAllele": "C", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448050.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_024303818.1:p.Gln657Ter", "hgvsWellDefined": "XP_024303818.1:p.Gln657_Thr1107delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581630" }, { "coordinates": [ { "allele": "T", "end": 2086, "referenceAllele": "C", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448051.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_024303819.1:p.Gln657Ter", "hgvsWellDefined": "XP_024303819.1:p.Gln657_Thr1107delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581631" }, { "coordinates": [ { "allele": "T", "end": 2023, "referenceAllele": "C", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448052.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_024303820.1:p.Gln657Ter", "hgvsWellDefined": "XP_024303820.1:p.Gln657_Thr1107delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581632" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448053.1:c.1969C>T" ], "proteinEffect": { "hgvs": "XP_024303821.1:p.Gln657Ter", "hgvsWellDefined": "XP_024303821.1:p.Gln657_Thr1087delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581633" }, { "coordinates": [ { "allele": "T", "end": 1901, "referenceAllele": "C", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448054.1:c.1759C>T" ], "proteinEffect": { "hgvs": "XP_024303822.1:p.Gln587Ter", "hgvsWellDefined": "XP_024303822.1:p.Gln587_Thr1037delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581634" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448055.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_024303823.1:p.Gln349Ter", "hgvsWellDefined": "XP_024303823.1:p.Gln349_Thr799delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581635" }, { "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448056.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_024303824.1:p.Gln349Ter", "hgvsWellDefined": "XP_024303824.1:p.Gln349_Thr799delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581636" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448057.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_024303825.1:p.Gln295Ter", "hgvsWellDefined": "XP_024303825.1:p.Gln295_Thr745delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581637" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "XM_024448058.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_024303826.1:p.Gln182Ter", "hgvsWellDefined": "XP_024303826.1:p.Gln182_Thr632delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581638" }, { "@id": "http://reg.genome.network/allele/PA2826772575", "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290020.2:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_001276949.1:p.Gln657Ter", "hgvsWellDefined": "NP_001276949.1:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682684" }, { "@id": "http://reg.genome.network/allele/PA2826772781", "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.2:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Gln182Ter", "hgvsWellDefined": "NP_001276950.1:p.Gln182_Ile612delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682685" }, { "@id": "http://reg.genome.network/allele/PA2826943947", "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.2:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Gln349Ter", "hgvsWellDefined": "NP_001299618.1:p.Gln349_Thr736delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684094" }, { "@id": "http://reg.genome.network/allele/PA645395323", "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.5:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Gln657Ter", "hgvsWellDefined": "NP_060546.2:p.Gln657_Thr1044delinsGluCysAlaSerGluGluAsnTyrArgAlaAlaIleLysAlaGluArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.1969C>T" }, "RefSeq": { "hgvs": "NM_018076.5:c.1969C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Gln657Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Gln657Ter" } } } } ], "type": "nucleotide" }