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"referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.474G>A" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Trp158Ter", "hgvsWellDefined": "ENSP00000384739.2:p.Trp158_Phe475delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.5:c.474G>A" ], "proteinEffect": { "hgvs": "ENSP00000435668.1:p.Trp158Ter", "hgvsWellDefined": "ENSP00000435668.1:p.Trp158Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS352587" }, { "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "G", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.378G>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Trp126Ter", "hgvsWellDefined": "ENSP00000435047.1:p.Trp126Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "@id": "http://reg.genome.network/allele/PA2825964277", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Trp158Ter", "hgvsWellDefined": "NP_001157289.1:p.Trp158_Phe475delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA2580217873", "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "G", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.474G>A", "LRG_340t1:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Trp158Ter", "hgvsWellDefined": "NP_001351.2:p.Trp158_Phe475delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.474G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp158Ter", "hgvsWellDefined": "XP_011543079.1:p.Trp158_Thr456delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.474G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Trp158Ter", "hgvsWellDefined": "XP_011543079.1:p.Trp158_Thr456delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnLysArgThrArgArgGlnGlyValCysGlnArgGlnSerTrpGlyLeuThrProGlyArgTrpAlaProGluProThrLeuLeuSerSerProTrpAlaLysHisArgLeuThrProSerProSerProProArgValCysThrTrpCysThrThrProCysSerCysProProArgThrProTrpAlaSerCysCysTrpAlaTrpTrpAlaThrThrSerSerGlyTrpProThrThrArgArgThrCysSerAlaAlaArgMetGlyAlaAlaSerSerGlyAlaGlySerProArgSerSerSerAlaProThrHisProProMetGlyArgGlyThrThrAlaSerCysTrpCysArgAlaSerGlyAlaTrpProAlaThrSerThrThrSerAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964277", "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Trp158Ter", "hgvsWellDefined": "NP_001157289.1:p.Trp158_Phe475delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA2580217873", "coordinates": [ { "allele": "A", "end": 709, "referenceAllele": "G", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Trp158Ter", "hgvsWellDefined": "NP_001351.2:p.Trp158_Phe475delinsPheAlaAsnAlaHisLeuLeuSerTrpPheSerProThrIleIlePheAspAsnTrpIleProLeuLeuTrpCysAlaAsnIleLeuGlyTyrAlaValSerThrPheAlaMetValLysGlyTyrPhePheProThrSerAlaArgAspCysLysPheThrGlyAsnPhePheTyrAsnTyrMetMetGlyIleGluPheAsnProArgIleGlyLysTrpPheAspPheLysLeuPhePheAsnGlyArgProGlyIleValAlaTrpThrLeuIleAsnLeuSerPheAlaAlaLysGlnArgGluLeuHisSerHisValThrAsnAlaMetValLeuValAsnValLeuGlnAlaIleTyrValIleAspPhePheTrpAsnGluThrTrpTyrLeuLysThrIleAspIleCysHisAspHisPheGlyTrpTyrLeuGlyTrpGlyAspCysValTrpLeuProTyrLeuTyrThrLeuGlnGlyLeuTyrLeuValTyrHisProValGlnLeuSerThrProHisAlaValGlyValLeuLeuLeuGlyLeuValGlyTyrTyrIlePheArgValAlaAsnHisGlnLysAspLeuPheArgArgThrAspGlyArgCysLeuIleTrpGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.474G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.474G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Trp158Ter" }, "RefSeq": { "hgvs": "NP_001351.2:p.Trp158Ter" } } } } ], "type": "nucleotide" }