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"referenceSequence": "http://reg.genome.network/refseq/RS562821" }, { "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "XM_017008286.1:c.1117C>T" ], "proteinEffect": { "hgvs": "XP_016863775.1:p.Gln373Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2825139987", "coordinates": [ { "allele": "T", "end": 2008, "referenceAllele": "C", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_000283.4:c.1954C>T" ], "proteinEffect": { "hgvs": "NP_000274.3:p.Gln652Ter", "hgvsWellDefined": "NP_000274.3:p.Gln652_Leu854delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000496514.6:c.1954C>T" }, "RefSeq": { "hgvs": "NM_000283.4:c.1954C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000420295.1:p.Gln652Ter" }, "RefSeq": { "hgvs": "NP_000274.3:p.Gln652Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139684076", "coordinates": [ { "allele": "T", "end": 2008, "referenceAllele": "C", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145291.2:c.1954C>T" ], "proteinEffect": { "hgvs": "NP_001138763.2:p.Gln652Ter", "hgvsWellDefined": "NP_001138763.2:p.Gln652_Leu853delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712791" }, { "@id": "http://reg.genome.network/allele/PA2825886402", "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001145292.2:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_001138764.2:p.Gln373Ter", "hgvsWellDefined": "NP_001138764.2:p.Gln373_Leu575delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712792" }, { "@id": "http://reg.genome.network/allele/PA2827495259", "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350154.3:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_001337083.1:p.Gln373Ter", "hgvsWellDefined": "NP_001337083.1:p.Gln373_Lys589delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719479" }, { "@id": "http://reg.genome.network/allele/PA2827496029", "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001350155.3:c.799C>T" ], "proteinEffect": { "hgvs": "NP_001337084.1:p.Gln267Ter", "hgvsWellDefined": "NP_001337084.1:p.Gln267_Lys483delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719480" }, { "@id": "http://reg.genome.network/allele/PA2828816907", "coordinates": [ { "allele": "T", "end": 1845, "referenceAllele": "C", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001379246.1:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_001366175.1:p.Gln373Ter", "hgvsWellDefined": "NP_001366175.1:p.Gln373_Leu575delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721937" }, { "@id": "http://reg.genome.network/allele/PA2828817347", "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN008786", "geneNCBI_id": 5158, "geneSymbol": "PDE6B", "hgvs": [ "NM_001379247.1:c.1117C>T" ], "proteinEffect": { "hgvs": "NP_001366176.1:p.Gln373Ter", "hgvsWellDefined": "NP_001366176.1:p.Gln373_Leu575delinsHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721938" } ], "type": "nucleotide" }