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"XP_011513569.1:p.Arg563_Ser873delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProAspProArgThrGlyGlnArgIleGluAlaTrpThrLeuArgIleProHisSerLeuSerGlnHisLeuGlnLeuMetGluGlyProLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082487" }, { "coordinates": [ { "allele": "T", "end": 2313, "referenceAllele": "C", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "XM_011515268.1:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011513570.1:p.Arg598Ter", "hgvsWellDefined": "XP_011513570.1:p.Arg598_Ser871delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProAspProArgThrGlyGlnArgIleGluAlaTrpThrLeuArgIleProHisSerLeuSerGlnHisLeuGlnLeuMetGluGlyProLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082488" }, { "coordinates": [ { "allele": "T", "end": 1619, "referenceAllele": "C", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "XM_011515269.1:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011513571.1:p.Arg507Ter", "hgvsWellDefined": "XP_011513571.1:p.Arg507_Ser817delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProAspProArgThrGlyGlnArgIleGluAlaTrpThrLeuArgIleProHisSerLeuSerGlnHisLeuGlnLeuMetGluGlyProLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082489" }, { "coordinates": [ { "allele": "T", "end": 2313, "referenceAllele": "C", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "XM_011515270.1:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011513572.1:p.Arg598Ter", "hgvsWellDefined": "XP_011513572.1:p.Arg598_Leu730delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnIleHisLeuAspHisGlyIleAspAsnAlaValLeuGlnLeuLeuAspTyrThrSerValLeuLeuThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082490" }, { "@id": "http://reg.genome.network/allele/PA2827420919", "coordinates": [ { "allele": "T", "end": 2071, "referenceAllele": "C", "start": 2070 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348036.1:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001334965.1:p.Arg598Ter", "hgvsWellDefined": "NP_001334965.1:p.Arg598_Glu887delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517963" }, { "@id": "http://reg.genome.network/allele/PA2827421429", "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "C", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348037.2:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001334966.1:p.Arg476Ter", "hgvsWellDefined": "NP_001334966.1:p.Arg476_Glu704delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517964" }, { "@id": "http://reg.genome.network/allele/PA2827421920", "coordinates": [ { "allele": "T", "end": 2309, "referenceAllele": "C", "start": 2308 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348038.2:c.1519C>T" ], "proteinEffect": { "hgvs": "NP_001334967.1:p.Arg507Ter", "hgvsWellDefined": "NP_001334967.1:p.Arg507_Glu796delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517965" }, { "@id": "http://reg.genome.network/allele/PA2827422404", "coordinates": [ { "allele": "T", "end": 2204, "referenceAllele": "C", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348039.2:c.1414C>T" ], "proteinEffect": { "hgvs": "NP_001334968.1:p.Arg472Ter", "hgvsWellDefined": "NP_001334968.1:p.Arg472_Glu761delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517966" }, { "@id": "http://reg.genome.network/allele/PA2827422969", "coordinates": [ { "allele": "T", "end": 2185, "referenceAllele": "C", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348040.2:c.1672C>T" ], "proteinEffect": { "hgvs": "NP_001334969.1:p.Arg558Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827423556", "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348041.3:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001334970.1:p.Arg598Ter", "hgvsWellDefined": "NP_001334970.1:p.Arg598_Ser908delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProAspProArgThrGlyGlnArgIleGluAlaTrpThrLeuArgIleProHisSerLeuSerGlnHisLeuGlnLeuMetGluGlyProLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517968" }, { "@id": "http://reg.genome.network/allele/PA2827424089", "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348042.2:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_001334971.1:p.Arg553Ter", "hgvsWellDefined": "NP_001334971.1:p.Arg553_Glu842delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517969" }, { "@id": "http://reg.genome.network/allele/PA2827424679", "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348043.2:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001334972.1:p.Arg598Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827425171", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348044.2:c.1321C>T" ], "proteinEffect": { "hgvs": "NP_001334973.1:p.Arg441Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827425683", "coordinates": [ { "allele": "T", "end": 2117, "referenceAllele": "C", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348045.2:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001334974.1:p.Arg476Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827426184", "coordinates": [ { "allele": "T", "end": 1966, "referenceAllele": "C", "start": 1965 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348046.2:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001334975.1:p.Arg476Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS543680" }, { "coordinates": [ { "allele": "T", "end": 2296, "referenceAllele": "C", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "XM_011515269.2:c.1519C>T" ], "proteinEffect": { "hgvs": "XP_011513571.1:p.Arg507Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS543681" }, { "coordinates": [ { "allele": "T", "end": 2295, "referenceAllele": "C", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "XM_011515270.3:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011513572.1:p.Arg598Ter", "hgvsWellDefined": "XP_011513572.1:p.Arg598_Leu730delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnIleHisLeuAspHisGlyIleAspAsnAlaValLeuGlnLeuLeuAspTyrThrSerValLeuLeuThrLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543682" }, { "coordinates": [ { "allele": "T", "end": 2004, "referenceAllele": "C", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "XM_017011990.1:c.1777C>T" ], "proteinEffect": { "hgvs": "XP_016867479.1:p.Arg593Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS565706" }, { "@id": "http://reg.genome.network/allele/PA2827422969", "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348040.3:c.1672C>T" ], "proteinEffect": { "hgvs": "NP_001334969.1:p.Arg558Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827423556", "coordinates": [ { "allele": "T", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348041.4:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001334970.1:p.Arg598Ter", "hgvsWellDefined": "NP_001334970.1:p.Arg598_Ser908delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProAspProArgThrGlyGlnArgIleGluAlaTrpThrLeuArgIleProHisSerLeuSerGlnHisLeuGlnLeuMetGluGlyProLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687558" }, { "@id": "http://reg.genome.network/allele/PA2827424679", "coordinates": [ { "allele": "T", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348043.3:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001334972.1:p.Arg598Ter", "hgvsWellDefined": "NP_001334972.1:p.Arg598_Glu886delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687559" }, { "@id": "http://reg.genome.network/allele/PA252385", "coordinates": [ { "allele": "T", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_198428.3:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_940820.1:p.Arg598Ter", "hgvsWellDefined": "NP_940820.1:p.Arg598_Glu887delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242067.11:c.1792C>T" }, "RefSeq": { "hgvs": "NM_198428.3:c.1792C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242067.6:p.Arg598Ter" }, "RefSeq": { "hgvs": "NP_940820.1:p.Arg598Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825371693", "coordinates": [ { "allele": "T", "end": 2176, "referenceAllele": "C", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001033604.2:c.1687C>T" ], "proteinEffect": { "hgvs": "NP_001028776.1:p.Arg563Ter", "hgvsWellDefined": "NP_001028776.1:p.Arg563_Glu852delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711539" }, { "@id": "http://reg.genome.network/allele/PA2825372275", "coordinates": [ { "allele": "T", "end": 2266, "referenceAllele": "C", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001033605.2:c.1777C>T" ], "proteinEffect": { "hgvs": "NP_001028777.1:p.Arg593Ter", "hgvsWellDefined": "NP_001028777.1:p.Arg593_Glu882delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711540" }, { "@id": "http://reg.genome.network/allele/PA2827421429", "coordinates": [ { "allele": "T", "end": 2216, "referenceAllele": "C", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348037.3:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001334966.1:p.Arg476Ter", "hgvsWellDefined": "NP_001334966.1:p.Arg476_Glu704delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719112" }, { "@id": "http://reg.genome.network/allele/PA2827421920", "coordinates": [ { "allele": "T", "end": 2285, "referenceAllele": "C", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348038.3:c.1519C>T" ], "proteinEffect": { "hgvs": "NP_001334967.1:p.Arg507Ter", "hgvsWellDefined": "NP_001334967.1:p.Arg507_Glu796delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719113" }, { "@id": "http://reg.genome.network/allele/PA2827422404", "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "C", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348039.3:c.1414C>T" ], "proteinEffect": { "hgvs": "NP_001334968.1:p.Arg472Ter", "hgvsWellDefined": "NP_001334968.1:p.Arg472_Glu761delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719114" }, { "@id": "http://reg.genome.network/allele/PA2827424089", "coordinates": [ { "allele": "T", "end": 2158, "referenceAllele": "C", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348042.3:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_001334971.1:p.Arg553Ter", "hgvsWellDefined": "NP_001334971.1:p.Arg553_Glu842delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719115" }, { "@id": "http://reg.genome.network/allele/PA2827425171", "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348044.3:c.1321C>T" ], "proteinEffect": { "hgvs": "NP_001334973.1:p.Arg441Ter", "hgvsWellDefined": "NP_001334973.1:p.Arg441_Glu730delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719116" }, { "@id": "http://reg.genome.network/allele/PA2827425683", "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348045.3:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001334974.1:p.Arg476Ter", "hgvsWellDefined": "NP_001334974.1:p.Arg476_Glu765delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719117" }, { "@id": "http://reg.genome.network/allele/PA2827426184", "coordinates": [ { "allele": "T", "end": 1942, "referenceAllele": "C", "start": 1941 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NM_001348046.3:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001334975.1:p.Arg476Ter", "hgvsWellDefined": "NP_001334975.1:p.Arg476_Glu765delinsTyrArgIleGlnSerGluGlnPheGluAspLeuTrpLeuIleThrAsnGluLeuIleLeuArgLeuGlnGluTyrPheGluLysGlnGlyValLysAspPheAlaCysSerPheSerGlySerIleProLeuGlnGluTyrPheGluLeuIleAspHisHisPheGluLeuArgIleAsnGlyGluLysLeuGluGluLeuLeuSerGluArgAlaValGlnPheArgAlaIleGlnArgArgLeuLeuAlaArgPheLysAspLysThrProAlaProLeuGlnHisLeuAspThrLeuLeuAspGlyThrTyrLysGlnValIleAlaLeuAlaAspAlaValGluGluAsnGlnGlyAsnLeuPheGlnSerPheThrArgLeuLysSerAlaThrHisLeuValIleLeuLeuIleAlaLeuTrpGlnLysLeuSerAlaAspGlnValAlaIleLeuGluAlaAlaPheLeuProLeuGlnGluAspThrGlnGluLeuGlyTrpGluGluThrValAspAlaAlaIleSerHisLeuLeuLysThrCysLeuSerLysSerSerLysGluGlnAlaLeuAsnLeuAsnSerGlnLeuAsnIleProLysAspThrSerGlnLeuLysLysHisIleThrLeuLeuCysAspArgLeuSerLysGlyGlyArgLeuCysLeuSerThrAspAlaAlaAlaProGlnThrMetValMetProGlyGlyCysThrThrIleProGluSerAspLeuGluGluArgSerValGluGlnAspSerThrGluLeuPheThrAsnHisArgHisLeuThrAlaGluThrProArgProGluValSerProLeuGlnGlyValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719118" }, { "@id": 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"allele": "T", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN030000", "geneNCBI_id": 27241, "geneSymbol": "BBS9", "hgvs": [ "NR_145413.3:n.2425C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731179" } ], "type": "nucleotide" }