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"ENSP00000505354.1:p.Trp228_Lys1004delinsAspGlnThrValGluThrAlaGlnArgLeuLeuLeuGlnAspSerGlnAsnValGluAlaLeuArgMetGlnAlaLeuTyrTyrValCysArgGluGlyAspIleGluLysAlaSerThrLysLeuGluAsnLeuGlyAsnThrLeuAspAlaMetGluProGlnAsnAlaGlnLeuPheTyrAsnIleThrLeuAlaPheSerArgThrCysGlyArgSerGlnLeuIleLeuGlnLysIleGlnThrLeuLeuGluArgAlaPheSerLeuAsnProGlnGlnSerGluPheAlaThrGluLeuGlyTyrGlnMetIleLeuGlnGlyArgValLysGluAlaLeuLysTrpTyrLysThrAlaMetThrLeuAspGluThrSerValSerAlaLeuValGlyPheIleGlnCysGlnLeuIleGluGlyGlnLeuGlnAspAlaAspGlnGlnLeuGluPheLeuAsnGluIleGlnGlnSerIleGlyLysSerAlaGluLeuIleTyrLeuHisAlaValLeuAlaMetLysLysAsnLysArgGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProValMetLeuLysGlyValValAsnLysIleSerGlyProLysIleValCysGlnGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781212" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681819.1:c.684G>A" ], "proteinEffect": { "hgvs": "ENSP00000505673.1:p.Trp228Ter", "hgvsWellDefined": "ENSP00000505673.1:p.Trp228_Ile1048delinsAspGlnThrValGluThrAlaGlnArgLeuLeuLeuGlnAspSerGlnAsnValGluAlaLeuArgMetGlnAlaLeuTyrTyrValCysArgGluGlyAspIleGluLysAlaSerThrLysLeuGluAsnLeuGlyAsnThrLeuAspAlaMetGluProGlnAsnAlaGlnLeuPheTyrAsnIleThrLeuAlaPheSerArgThrCysGlyArgSerGlnLeuIleLeuGlnLysIleGlnThrLeuLeuGluArgAlaPheSerLeuAsnProGlnGlnSerGluPheAlaThrGluLeuGlyTyrGlnMetIleLeuGlnGlyArgValLysGluAlaLeuLysTrpTyrLysThrAlaMetThrLeuAspGluThrSerValSerAlaLeuValGlyPheIleGlnCysGlnLeuIleGluGlyGlnLeuGlnAspAlaAspGlnGlnLeuGluPheLeuAsnGluIleGlnGlnSerIleGlyLysSerAlaGluLeuIleTyrLeuHisAlaValLeuAlaMetLysLysAsnLysArgGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781421" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681952.1:c.684G>A" ], "proteinEffect": { "hgvs": "ENSP00000506400.1:p.Trp228Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS781550" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.7:c.684G>A" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Trp228Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS249260" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000464374.5:n.724G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308221" }, { "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.4:c.684G>A" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Trp228Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS037987" }, { "coordinates": [ { "allele": "T", "end": 276, "endIntronDirection": "-", "endIntronOffset": 6143, "referenceAllele": "C", "start": 276, "startIntronDirection": "-", "startIntronOffset": 6144 } ], "gene": "http://reg.genome.network/gene/GN041115", "geneNCBI_id": 100506134, "geneSymbol": "TTC21B-AS1", "hgvs": [ "NR_038983.1:n.277-6144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050660" }, { "coordinates": [ { "allele": "T", "end": 220, "endIntronDirection": "-", "endIntronOffset": 6143, "referenceAllele": "C", "start": 220, "startIntronDirection": "-", "startIntronOffset": 6144 } ], "gene": "http://reg.genome.network/gene/GN041115", "geneNCBI_id": 100506134, "geneSymbol": "TTC21B-AS1", "hgvs": [ "NR_038984.1:n.221-6144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050661" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_006712761.1:c.684G>A" ], "proteinEffect": { "hgvs": "XP_006712824.1:p.Trp228Ter", "hgvsWellDefined": "XP_006712824.1:p.Trp228_Glu1056delinsAspGlnThrValGluThrAlaGlnArgLeuLeuLeuGlnAspSerGlnAsnValGluAlaLeuArgMetGlnAlaLeuTyrTyrValCysArgGluGlyAspIleGluLysAlaSerThrLysLeuGluAsnLeuGlyAsnThrLeuAspAlaMetGluProGlnAsnAlaGlnLeuPheTyrAsnIleThrLeuAlaPheSerArgThrCysGlyArgSerGlnLeuIleLeuGlnLysIleGlnThrLeuLeuGluArgAlaPheSerLeuAsnProGlnGlnSerGluPheAlaThrGluLeuGlyTyrGlnMetIleLeuGlnGlyArgValLysGluAlaLeuLysTrpTyrLysThrAlaMetThrLeuAspGluThrSerValSerAlaLeuValGlyPheIleGlnCysGlnLeuIleGluGlyGlnLeuGlnAspAlaAspGlnGlnLeuGluPheLeuAsnGluIleGlnGlnSerIleGlyLysSerAlaGluLeuIleTyrLeuHisAlaValLeuAlaMetLysLysAsnLysArgGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069809" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511870.1:c.117G>A" ], "proteinEffect": { "hgvs": "XP_011510172.1:p.Trp39Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS079129" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.1:c.684G>A" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Trp228Ter", "hgvsWellDefined": "XP_011510174.1:p.Trp228_Arg942delinsAspGlnThrValGluThrAlaGlnArgLeuLeuLeuGlnAspSerGlnAsnValGluAlaLeuArgMetGlnAlaLeuTyrTyrValCysArgGluGlyAspIleGluLysAlaSerThrLysLeuGluAsnLeuGlyAsnThrLeuAspAlaMetGluProGlnAsnAlaGlnLeuPheTyrAsnIleThrLeuAlaPheSerArgThrCysGlyArgSerGlnLeuIleLeuGlnLysIleGlnThrLeuLeuGluArgAlaPheSerLeuAsnProGlnGlnSerGluPheAlaThrGluLeuGlyTyrGlnMetIleLeuGlnGlyArgValLysGluAlaLeuLysTrpTyrLysThrAlaMetThrLeuAspGluThrSerValSerAlaLeuValGlyPheIleGlnCysGlnLeuIleGluGlyGlnLeuGlnAspAlaAspGlnGlnLeuGluPheLeuAsnGluIleGlnGlnSerIleGlyLysSerAlaGluLeuIleTyrLeuHisAlaValLeuAlaMetLysLysAsnLysArgGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079131" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.2:c.684G>A" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Trp228Ter", "hgvsWellDefined": "XP_011510174.1:p.Trp228_Arg942delinsAspGlnThrValGluThrAlaGlnArgLeuLeuLeuGlnAspSerGlnAsnValGluAlaLeuArgMetGlnAlaLeuTyrTyrValCysArgGluGlyAspIleGluLysAlaSerThrLysLeuGluAsnLeuGlyAsnThrLeuAspAlaMetGluProGlnAsnAlaGlnLeuPheTyrAsnIleThrLeuAlaPheSerArgThrCysGlyArgSerGlnLeuIleLeuGlnLysIleGlnThrLeuLeuGluArgAlaPheSerLeuAsnProGlnGlnSerGluPheAlaThrGluLeuGlyTyrGlnMetIleLeuGlnGlyArgValLysGluAlaLeuLysTrpTyrLysThrAlaMetThrLeuAspGluThrSerValSerAlaLeuValGlyPheIleGlnCysGlnLeuIleGluGlyGlnLeuGlnAspAlaAspGlnGlnLeuGluPheLeuAsnGluIleGlnGlnSerIleGlyLysSerAlaGluLeuIleTyrLeuHisAlaValLeuAlaMetLysLysAsnLysArgGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542330" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004967.1:c.684G>A" ], "proteinEffect": { "hgvs": "XP_016860456.1:p.Trp228Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS560340" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004969.1:c.-333G>A" ], "proteinEffect": { "hgvs": "XP_016860458.1:n.-333G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS560342" }, { "coordinates": [ { "allele": "A", "end": 755, "referenceAllele": "G", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.5:c.684G>A" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Trp228Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS670779", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.684G>A" }, "RefSeq": { "hgvs": "NM_024753.5:c.684G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Trp228Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Trp228Ter" } } } } ], "type": "nucleotide" }