{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1942035", "communityStandardTitle": [ "NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536236[alleleid]", "alleleId": 536236, "preferredName": "NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546034", "RCV": [ "RCV000657791", "RCV000778568", "RCV001861684" ], "variationId": 546034 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-166773951-G-T", "id": "2-166773951-G-T", "variant": "2:166773951 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166773951G>T?assembly=hg19", "id": "chr2:g.166773951G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165917441G>T?assembly=hg38", "id": "chr2:g.165917441G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369159801", "rs": 369159801 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166773951-G-T?dataset=gnomad_r2_1", "id": "2-166773951-G-T", "variant": "2:166773951 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165917441-G-T?dataset=gnomad_r4", "id": "2-165917441-G-T", "variant": "2:165917441 G / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 165917441, "referenceAllele": "G", "start": 165917440 } ], "hgvs": [ "NC_000002.12:g.165917441G>T", "CM000664.2:g.165917441G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166773951, "referenceAllele": "G", "start": 166773950 } ], "hgvs": [ "NC_000002.11:g.166773951G>T", "CM000664.1:g.166773951G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166482197, "referenceAllele": "G", "start": 166482196 } ], "hgvs": [ "NC_000002.10:g.166482197G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 41398, "referenceAllele": "C", "start": 41397 } ], "hgvs": [ "NG_030345.1:g.41398C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004902" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.8:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Ser572Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Ser572_Pro1316delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741172", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1715C>A" }, "RefSeq": { "hgvs": "NM_024753.5:c.1715C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Ser572Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Ser572Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000652557.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000498617.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000498617.1:p.Ser572_Met1274delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772275" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679356.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000506245.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000506245.1:p.Ser572_Pro1315delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778989" }, { "coordinates": [ { "allele": "A", "end": 1828, "referenceAllele": "C", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679671.1:n.1828C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779298" }, { "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "C", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679676.1:c.1604C>A" ], "proteinEffect": { "hgvs": "ENSP00000505492.1:p.Ser535Ter", "hgvsWellDefined": "ENSP00000505492.1:p.Ser535_Pro1279delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779303" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679799.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000505208.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000505208.1:p.Ser572_Met1274delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779423" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679840.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000505248.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000505248.1:p.Ser572_Tyr1323delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyGluPheGlyAsnHisLeuAspPheSerGlnLysAsnTyrValValPheIleAsnPheHisLeuAsnAlaPheAspPhePheGlnAsnLysIleAsnIleGluSerIlePheIleValAsnLeuSerGluArgArgIleAsnPheIlePheIleIleTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779462" }, { "coordinates": [ { "allele": "A", "end": 1838, "referenceAllele": "C", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679931.1:c.*757C>A" ], "proteinEffect": { "hgvs": "ENSP00000505632.1:n.*757C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779553" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679967.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000506607.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000506607.1:p.Ser572_Pro1313delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluHisAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779589" }, { "coordinates": [ { "allele": "A", "end": 1838, "referenceAllele": "C", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680327.1:c.*757C>A" ], "proteinEffect": { "hgvs": "ENSP00000506639.1:n.*757C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779945" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680448.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000505921.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000505921.1:p.Ser572_Glu1056delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780065" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680657.1:n.1826C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780272" }, { "coordinates": [ { "allele": "A", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680690.1:c.*967C>A" ], "proteinEffect": { "hgvs": "ENSP00000506121.1:n.*967C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780305" }, { "coordinates": [ { "allele": "A", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680888.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000506276.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000506276.1:p.Ser572_Pro1316delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780502" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680947.1:c.*987C>A" ], "proteinEffect": { "hgvs": "ENSP00000506496.1:n.*987C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780561" }, { "coordinates": [ { "allele": "A", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681024.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000506449.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000506449.1:p.Ser572_Leu1314delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780637" }, { "coordinates": [ { "allele": "A", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681083.1:c.*1449C>A" ], "proteinEffect": { "hgvs": "ENSP00000506095.1:n.*1449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780696" }, { "coordinates": [ { "allele": "A", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681167.1:n.1589C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780779" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681483.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000505499.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000505499.1:p.Ser572_Ile1049delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProGluAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781089" }, { "coordinates": [ { "allele": "A", "end": 1916, "referenceAllele": "C", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681502.1:c.*1139C>A" ], "proteinEffect": { "hgvs": "ENSP00000505644.1:n.*1139C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781108" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681606.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000505354.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000505354.1:p.Ser572_Lys1004delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProValMetLeuLysGlyValValAsnLysIleSerGlyProLysIleValCysGlnGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781212" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681819.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000505673.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000505673.1:p.Ser572_Ile1048delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781421" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681952.1:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000506400.1:p.Ser572Ter", "hgvsWellDefined": "ENSP00000506400.1:p.Ser572_Pro1316delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781550" }, { "coordinates": [ { "allele": "A", "end": 1853, "referenceAllele": "C", "start": 1852 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.7:c.1715C>A" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Ser572Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Ser572_Pro1316delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249260" }, { "@id": "http://reg.genome.network/allele/PA658830418", "coordinates": [ { "allele": "A", "end": 1848, "referenceAllele": "C", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.4:c.1715C>A" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Ser572Ter", "hgvsWellDefined": "NP_079029.3:p.Ser572_Pro1316delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037987" }, { "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_006712761.1:c.1715C>A" ], "proteinEffect": { "hgvs": "XP_006712824.1:p.Ser572Ter", "hgvsWellDefined": "XP_006712824.1:p.Ser572_Glu1056delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069809" }, { "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511870.1:c.1148C>A" ], "proteinEffect": { "hgvs": "XP_011510172.1:p.Ser383Ter", "hgvsWellDefined": "XP_011510172.1:p.Ser383_Pro1127delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079129" }, { "coordinates": [ { "allele": "A", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.1:c.965C>A" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Ser322Ter", "hgvsWellDefined": "XP_011510173.1:p.Ser322_Pro1066delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079130" }, { "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.1:c.1715C>A" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Ser572Ter", "hgvsWellDefined": "XP_011510174.1:p.Ser572_Arg942delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079131" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.3:c.965C>A" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Ser322Ter", "hgvsWellDefined": "XP_011510173.1:p.Ser322_Pro1066delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542329" }, { "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.2:c.1715C>A" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Ser572Ter", "hgvsWellDefined": "XP_011510174.1:p.Ser572_Arg942delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542330" }, { "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004967.1:c.1715C>A" ], "proteinEffect": { "hgvs": "XP_016860456.1:p.Ser572Ter", "hgvsWellDefined": "XP_016860456.1:p.Ser572_Leu1314delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560340" }, { "coordinates": [ { "allele": "A", "end": 4525, "referenceAllele": "C", "start": 4524 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004968.2:c.1061C>A" ], "proteinEffect": { "hgvs": "XP_016860457.1:p.Ser354Ter", "hgvsWellDefined": "XP_016860457.1:p.Ser354_Pro1098delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560341" }, { "coordinates": [ { "allele": "A", "end": 1508, "referenceAllele": "C", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004969.1:c.716C>A" ], "proteinEffect": { "hgvs": "XP_016860458.1:p.Ser239Ter", "hgvsWellDefined": "XP_016860458.1:p.Ser239_Pro983delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560342" }, { "@id": "http://reg.genome.network/allele/PA658830418", "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.5:c.1715C>A" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Ser572Ter", "hgvsWellDefined": "NP_079029.3:p.Ser572_Pro1316delinsGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670779", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1715C>A" }, "RefSeq": { "hgvs": "NM_024753.5:c.1715C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Ser572Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Ser572Ter" } } } } ], "type": "nucleotide" }