{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339232519", "communityStandardTitle": [ "NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=970165[alleleid]", "alleleId": 970165, "preferredName": "NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/982055", "RCV": [ "RCV001261553", "RCV002541580" ], "variationId": 982055 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.27876439C>A?assembly=hg19", "id": "chr1:g.27876439C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.27549928C>A?assembly=hg38", "id": "chr1:g.27549928C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2019433712", "rs": 2019433712 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 27549928, "referenceAllele": "C", "start": 27549927 } ], "hgvs": [ "NC_000001.11:g.27549928C>A", "CM000663.2:g.27549928C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 27876439, "referenceAllele": "C", "start": 27876438 } ], "hgvs": [ "NC_000001.10:g.27876439C>A", "CM000663.1:g.27876439C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 27749026, "referenceAllele": "C", "start": 27749025 } ], "hgvs": [ "NC_000001.9:g.27749026C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 58567, "referenceAllele": "G", "start": 58566 } ], "hgvs": [ "NG_034158.1:g.58567G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005786" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.10:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Glu730Ter", "hgvsWellDefined": "ENSP00000247087.4:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741322" }, { "coordinates": [ { "allele": "T", "end": 3089, "referenceAllele": "G", "start": 3088 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000642245.1:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000495072.1:p.Glu730Ter", "hgvsWellDefined": "ENSP00000495072.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766637" }, { "coordinates": [ { "allele": "T", "end": 2811, "referenceAllele": "G", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000642416.1:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000494394.1:p.Glu730Ter", "hgvsWellDefined": "ENSP00000494394.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766729" }, { "coordinates": [ { "allele": "T", "end": 2792, "referenceAllele": "G", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000644989.1:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000495665.1:p.Glu730Ter", "hgvsWellDefined": "ENSP00000495665.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768110" }, { "coordinates": [ { "allele": "T", "end": 3089, "referenceAllele": "G", "start": 3088 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000673934.1:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000501218.1:p.Glu730Ter", "hgvsWellDefined": "ENSP00000501218.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.2188G>T" }, "RefSeq": { "hgvs": "NM_001371928.1:c.2188G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Glu730Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Glu730Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2785, "referenceAllele": "G", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.9:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Glu730Ter", "hgvsWellDefined": "ENSP00000247087.4:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249493" }, { "coordinates": [ { "allele": "T", "end": 3157, "referenceAllele": "G", "start": 3156 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000374011.6:c.2188G>T" ], "proteinEffect": { "hgvs": "ENSP00000363123.2:p.Glu730Ter", "hgvsWellDefined": "ENSP00000363123.2:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270020" }, { "@id": "http://reg.genome.network/allele/PA2825343945", "coordinates": [ { "allele": "T", "end": 3019, "referenceAllele": "G", "start": 3018 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001029882.3:c.2188G>T" ], "proteinEffect": { "hgvs": "NP_001025053.1:p.Glu730Ter", "hgvsWellDefined": "NP_001025053.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008930" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "G", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245905.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057399" }, { "coordinates": [ { "allele": "T", "end": 3249, "referenceAllele": "G", "start": 3248 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245906.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057400" }, { "coordinates": [ { "allele": "T", "end": 3269, "referenceAllele": "G", "start": 3268 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Glu730Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057401" }, { "coordinates": [ { "allele": "T", "end": 3141, "referenceAllele": "G", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Glu730Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057402" }, { "coordinates": [ { "allele": "T", "end": 2918, "referenceAllele": "G", "start": 2917 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Glu730Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057403" }, { "coordinates": [ { "allele": "T", "end": 2933, "referenceAllele": "G", "start": 2932 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541255.1:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_011539557.1:p.Glu730Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108197" }, { "coordinates": [ { "allele": "T", "end": 3263, "referenceAllele": "G", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.1:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Glu730Ter", "hgvsWellDefined": "XP_011539558.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108198" }, { "coordinates": [ { "allele": "T", "end": 2841, "referenceAllele": "G", "start": 2840 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.1:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Glu730Ter", "hgvsWellDefined": "XP_011539559.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108199" }, { "coordinates": [ { "allele": "T", "end": 3145, "referenceAllele": "G", "start": 3144 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.1:n.3145G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140193" }, { "coordinates": [ { "allele": "T", "end": 3254, "referenceAllele": "G", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.3:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245905.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532515" }, { "coordinates": [ { "allele": "T", "end": 3359, "referenceAllele": "G", "start": 3358 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.3:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245906.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532516" }, { "coordinates": [ { "allele": "T", "end": 3379, "referenceAllele": "G", "start": 3378 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.3:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245907.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532517" }, { "coordinates": [ { "allele": "T", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.3:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245908.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532518" }, { "coordinates": [ { "allele": "T", "end": 3028, "referenceAllele": "G", "start": 3027 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.3:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Glu730Ter", "hgvsWellDefined": "XP_005245909.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532519" }, { "coordinates": [ { "allele": "T", "end": 3373, "referenceAllele": "G", "start": 3372 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Glu730Ter", "hgvsWellDefined": "XP_011539558.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554365" }, { "coordinates": [ { "allele": "T", "end": 4128, "referenceAllele": "G", "start": 4127 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.2:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Glu730Ter", "hgvsWellDefined": "XP_011539559.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554366" }, { "coordinates": [ { "allele": "T", "end": 3336, "referenceAllele": "G", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_024446461.1:c.2188G>T" ], "proteinEffect": { "hgvs": "XP_024302229.1:p.Glu730Ter", "hgvsWellDefined": "XP_024302229.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580123" }, { "coordinates": [ { "allele": "T", "end": 3255, "referenceAllele": "G", "start": 3254 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.2:n.3255G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614392" }, { "@id": "http://reg.genome.network/allele/PA1139743179", "coordinates": [ { "allele": "T", "end": 3089, "referenceAllele": "G", "start": 3088 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001371928.1:c.2188G>T" ], "proteinEffect": { "hgvs": "NP_001358857.1:p.Glu730Ter", "hgvsWellDefined": "NP_001358857.1:p.Glu730_Leu1603delinsValAspAlaValThrGlyLysProLysArgLysArgArgSerArgLysAsnGlyThrLeuPheProGluGlnValProSerGlyProGlyPheGlyGluAlaGlyAlaGluTrpAlaGlyAspLysGlyGlyGlyTrpAlaProHisHisGlyHisProGlyGlyGlnAlaGlyArgAsnCysGlyPheGlnGlyThrGluAlaArgAlaPheAlaSerThrGlyLeuGluSerGlyAlaSerGlyArgGlySerTyrTyrSerThrGlyAlaProSerGlyGlnThrGluLeuSerGlnGluArgGlnAsnLeuPheThrGlyTyrPheArgSerLeuLeuAspSerAspAspSerSerAspLeuLeuAspPheAlaLeuSerAlaSerArgProGluSerArgLysAlaSerGlyThrTyrAlaGlyProProThrSerAlaLeuProAlaGlnArgGlyLeuAlaThrPheProSerArgGlyAlaLysAlaSerProValAlaValGlySerSerGlyAlaGlyAlaAspProSerPheGlnProValLeuSerAlaArgGlnThrPheProProGlyArgAlaAlaSerTyrGlyLeuThrProAlaAlaSerAspCysArgAlaAlaGluThrPheProLysLeuValProProProSerAlaMetAlaArgSerProThrThrHisProProAlaAsnThrTyrLeuProGlnTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.2188G>T" }, "RefSeq": { "hgvs": "NM_001371928.1:c.2188G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Glu730Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Glu730Ter" } } } } ], "type": "nucleotide" }