{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259950", "communityStandardTitle": [ "NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39893[alleleid]", "alleleId": 39893, "preferredName": "NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30936", "RCV": [ "RCV000023925" ], "variationId": 30936 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166775804A>T?assembly=hg19", "id": "chr2:g.166775804A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165919294A>T?assembly=hg38", "id": "chr2:g.165919294A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907059", "rs": 387907059 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 165919294, "referenceAllele": "A", "start": 165919293 } ], "hgvs": [ "NC_000002.12:g.165919294A>T", "CM000664.2:g.165919294A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166775804, "referenceAllele": "A", "start": 166775803 } ], "hgvs": [ "NC_000002.11:g.166775804A>T", "CM000664.1:g.166775804A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166484050, "referenceAllele": "A", "start": 166484049 } ], "hgvs": [ "NC_000002.10:g.166484050A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 39545, "referenceAllele": "T", "start": 39544 } ], "hgvs": [ "NG_030345.1:g.39545T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004902" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1727, "referenceAllele": "T", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.8:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Cys552Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Cys552_Pro1316delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741172", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1656T>A" }, "RefSeq": { "hgvs": "NM_024753.5:c.1656T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Cys552Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Cys552Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000652557.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000498617.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000498617.1:p.Cys552_Met1274delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772275" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679356.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000506245.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000506245.1:p.Cys552_Pro1315delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778989" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "T", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679671.1:n.1769T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779298" }, { "coordinates": [ { "allele": "A", "end": 1658, "referenceAllele": "T", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679676.1:c.1545T>A" ], "proteinEffect": { "hgvs": "ENSP00000505492.1:p.Cys515Ter", "hgvsWellDefined": "ENSP00000505492.1:p.Cys515_Pro1279delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779303" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679799.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000505208.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000505208.1:p.Cys552_Met1274delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779423" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679840.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000505248.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000505248.1:p.Cys552_Tyr1323delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyGluPheGlyAsnHisLeuAspPheSerGlnLysAsnTyrValValPheIleAsnPheHisLeuAsnAlaPheAspPhePheGlnAsnLysIleAsnIleGluSerIlePheIleValAsnLeuSerGluArgArgIleAsnPheIlePheIleIleTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779462" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "T", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679931.1:c.*698T>A" ], "proteinEffect": { "hgvs": "ENSP00000505632.1:n.*698T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779553" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679967.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000506607.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000506607.1:p.Cys552_Pro1313delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluHisAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779589" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "T", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680327.1:c.*698T>A" ], "proteinEffect": { "hgvs": "ENSP00000506639.1:n.*698T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779945" }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "T", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680448.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000505921.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000505921.1:p.Cys552_Glu1056delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780065" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680657.1:n.1767T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780272" }, { "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "T", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680690.1:c.*908T>A" ], "proteinEffect": { "hgvs": "ENSP00000506121.1:n.*908T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780305" }, { "coordinates": [ { "allele": "A", "end": 1802, "referenceAllele": "T", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680888.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000506276.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000506276.1:p.Cys552_Pro1316delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780502" }, { "coordinates": [ { "allele": "A", "end": 1623, "referenceAllele": "T", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680947.1:c.*928T>A" ], "proteinEffect": { "hgvs": "ENSP00000506496.1:n.*928T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780561" }, { "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "T", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681024.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000506449.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000506449.1:p.Cys552_Leu1314delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780637" }, { "coordinates": [ { "allele": "A", "end": 1823, "referenceAllele": "T", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681083.1:c.*1390T>A" ], "proteinEffect": { "hgvs": "ENSP00000506095.1:n.*1390T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780696" }, { "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "T", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681167.1:n.1530T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780779" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681483.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000505499.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000505499.1:p.Cys552_Ile1049delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProGluAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781089" }, { "coordinates": [ { "allele": "A", "end": 1857, "referenceAllele": "T", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681502.1:c.*1080T>A" ], "proteinEffect": { "hgvs": "ENSP00000505644.1:n.*1080T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781108" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681606.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000505354.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000505354.1:p.Cys552_Lys1004delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProValMetLeuLysGlyValValAsnLysIleSerGlyProLysIleValCysGlnGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781212" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681819.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000505673.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000505673.1:p.Cys552_Ile1048delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781421" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681952.1:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000506400.1:p.Cys552Ter", "hgvsWellDefined": "ENSP00000506400.1:p.Cys552_Pro1316delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781550" }, { "coordinates": [ { "allele": "A", "end": 1794, "referenceAllele": "T", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.7:c.1656T>A" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Cys552Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Cys552_Pro1316delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249260" }, { "@id": "http://reg.genome.network/allele/PA259951", "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "T", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.4:c.1656T>A" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Cys552Ter", "hgvsWellDefined": "NP_079029.3:p.Cys552_Pro1316delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037987" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "T", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_006712761.1:c.1656T>A" ], "proteinEffect": { "hgvs": "XP_006712824.1:p.Cys552Ter", "hgvsWellDefined": "XP_006712824.1:p.Cys552_Glu1056delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069809" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "T", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511870.1:c.1089T>A" ], "proteinEffect": { "hgvs": "XP_011510172.1:p.Cys363Ter", "hgvsWellDefined": "XP_011510172.1:p.Cys363_Pro1127delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079129" }, { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.1:c.906T>A" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Cys302Ter", "hgvsWellDefined": "XP_011510173.1:p.Cys302_Pro1066delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079130" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "T", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.1:c.1656T>A" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Cys552Ter", "hgvsWellDefined": "XP_011510174.1:p.Cys552_Arg942delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079131" }, { "coordinates": [ { "allele": "A", "end": 5035, "referenceAllele": "T", "start": 5034 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.3:c.906T>A" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Cys302Ter", "hgvsWellDefined": "XP_011510173.1:p.Cys302_Pro1066delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542329" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "T", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.2:c.1656T>A" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Cys552Ter", "hgvsWellDefined": "XP_011510174.1:p.Cys552_Arg942delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542330" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "T", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004967.1:c.1656T>A" ], "proteinEffect": { "hgvs": "XP_016860456.1:p.Cys552Ter", "hgvsWellDefined": "XP_016860456.1:p.Cys552_Leu1314delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560340" }, { "coordinates": [ { "allele": "A", "end": 4466, "referenceAllele": "T", "start": 4465 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004968.2:c.1002T>A" ], "proteinEffect": { "hgvs": "XP_016860457.1:p.Cys334Ter", "hgvsWellDefined": "XP_016860457.1:p.Cys334_Pro1098delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560341" }, { "coordinates": [ { "allele": "A", "end": 1449, "referenceAllele": "T", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004969.1:c.657T>A" ], "proteinEffect": { "hgvs": "XP_016860458.1:p.Cys219Ter", "hgvsWellDefined": "XP_016860458.1:p.Cys219_Pro983delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560342" }, { "@id": "http://reg.genome.network/allele/PA259951", "coordinates": [ { "allele": "A", "end": 1727, "referenceAllele": "T", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.5:c.1656T>A" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Cys552Ter", "hgvsWellDefined": "NP_079029.3:p.Cys552_Pro1316delinsLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670779", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1656T>A" }, "RefSeq": { "hgvs": "NM_024753.5:c.1656T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Cys552Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Cys552Ter" } } } } ], "type": "nucleotide" }