{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349058844", "communityStandardTitle": [ "NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6154470", "active": true, "id": "COSM6154470" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553586[alleleid]", "alleleId": 553586, "preferredName": "NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562402", "RCV": [ "RCV000681869", "RCV003319402" ], "variationId": 562402 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166771850G>A?assembly=hg19", "id": "chr2:g.166771850G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165915340G>A?assembly=hg38", "id": "chr2:g.165915340G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1559056633", "rs": 1559056633 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165915340-G-A?dataset=gnomad_r4", "id": "2-165915340-G-A", "variant": "2:165915340 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 165915340, "referenceAllele": "G", "start": 165915339 } ], "hgvs": [ "NC_000002.12:g.165915340G>A", "CM000664.2:g.165915340G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166771850, "referenceAllele": "G", "start": 166771849 } ], "hgvs": [ "NC_000002.11:g.166771850G>A", "CM000664.1:g.166771850G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166480096, "referenceAllele": "G", "start": 166480095 } ], "hgvs": [ "NC_000002.10:g.166480096G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 43499, "referenceAllele": "C", "start": 43498 } ], "hgvs": [ "NG_030345.1:g.43499C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004902" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.8:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Gln667Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Gln667_Pro1316delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741172", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1999C>T" }, "RefSeq": { "hgvs": "NM_024753.5:c.1999C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Gln667Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Gln667Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000652557.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000498617.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000498617.1:p.Gln667_Met1274delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772275" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679356.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000506245.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000506245.1:p.Gln667_Pro1315delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778989" }, { "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "C", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679671.1:n.2112C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779298" }, { "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679676.1:c.1888C>T" ], "proteinEffect": { "hgvs": "ENSP00000505492.1:p.Gln630Ter", "hgvsWellDefined": "ENSP00000505492.1:p.Gln630_Pro1279delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779303" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679799.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000505208.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000505208.1:p.Gln667_Met1274delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779423" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679840.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000505248.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000505248.1:p.Gln667_Tyr1323delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyGluPheGlyAsnHisLeuAspPheSerGlnLysAsnTyrValValPheIleAsnPheHisLeuAsnAlaPheAspPhePheGlnAsnLysIleAsnIleGluSerIlePheIleValAsnLeuSerGluArgArgIleAsnPheIlePheIleIleTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779462" }, { "coordinates": [ { "allele": "T", "end": 2122, "referenceAllele": "C", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679931.1:c.*1041C>T" ], "proteinEffect": { "hgvs": "ENSP00000505632.1:n.*1041C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779553" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679967.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000506607.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000506607.1:p.Gln667_Pro1313delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluHisAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779589" }, { "coordinates": [ { "allele": "T", "end": 2122, "referenceAllele": "C", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680327.1:c.*1041C>T" ], "proteinEffect": { "hgvs": "ENSP00000506639.1:n.*1041C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779945" }, { "coordinates": [ { "allele": "T", "end": 2135, "referenceAllele": "C", "start": 2134 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680448.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000505921.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000505921.1:p.Gln667_Glu1056delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780065" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680657.1:n.2110C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780272" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "C", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680690.1:c.*1251C>T" ], "proteinEffect": { "hgvs": "ENSP00000506121.1:n.*1251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780305" }, { "coordinates": [ { "allele": "T", "end": 2145, "referenceAllele": "C", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680888.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000506276.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000506276.1:p.Gln667_Pro1316delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780502" }, { "coordinates": [ { "allele": "T", "end": 1966, "referenceAllele": "C", "start": 1965 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680947.1:c.*1271C>T" ], "proteinEffect": { "hgvs": "ENSP00000506496.1:n.*1271C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780561" }, { "coordinates": [ { "allele": "T", "end": 2115, "referenceAllele": "C", "start": 2114 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681024.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000506449.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000506449.1:p.Gln667_Leu1314delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780637" }, { "coordinates": [ { "allele": "T", "end": 2166, "referenceAllele": "C", "start": 2165 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681083.1:c.*1733C>T" ], "proteinEffect": { "hgvs": "ENSP00000506095.1:n.*1733C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780696" }, { "coordinates": [ { "allele": "T", "end": 1873, "referenceAllele": "C", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681167.1:n.1873C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780779" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681483.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000505499.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000505499.1:p.Gln667_Ile1049delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProGluAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781089" }, { "coordinates": [ { "allele": "T", "end": 2200, "referenceAllele": "C", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681502.1:c.*1423C>T" ], "proteinEffect": { "hgvs": "ENSP00000505644.1:n.*1423C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781108" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681606.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000505354.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000505354.1:p.Gln667_Lys1004delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProValMetLeuLysGlyValValAsnLysIleSerGlyProLysIleValCysGlnGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781212" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681819.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000505673.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000505673.1:p.Gln667_Ile1048delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781421" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681952.1:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000506400.1:p.Gln667Ter", "hgvsWellDefined": "ENSP00000506400.1:p.Gln667_Pro1316delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781550" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "C", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.7:c.1999C>T" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Gln667Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Gln667_Pro1316delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249260" }, { "@id": "http://reg.genome.network/allele/PA658830419", "coordinates": [ { "allele": "T", "end": 2132, "referenceAllele": "C", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.4:c.1999C>T" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Gln667Ter", "hgvsWellDefined": "NP_079029.3:p.Gln667_Pro1316delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037987" }, { "coordinates": [ { "allele": "T", "end": 2075, "referenceAllele": "C", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_006712761.1:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_006712824.1:p.Gln667Ter", "hgvsWellDefined": "XP_006712824.1:p.Gln667_Glu1056delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069809" }, { "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511870.1:c.1432C>T" ], "proteinEffect": { "hgvs": "XP_011510172.1:p.Gln478Ter", "hgvsWellDefined": "XP_011510172.1:p.Gln478_Pro1127delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079129" }, { "coordinates": [ { "allele": "T", "end": 1385, "referenceAllele": "C", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.1:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Gln417Ter", "hgvsWellDefined": "XP_011510173.1:p.Gln417_Pro1066delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079130" }, { "coordinates": [ { "allele": "T", "end": 2075, "referenceAllele": "C", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.1:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Gln667Ter", "hgvsWellDefined": "XP_011510174.1:p.Gln667_Arg942delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079131" }, { "coordinates": [ { "allele": "T", "end": 5378, "referenceAllele": "C", "start": 5377 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.3:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Gln417Ter", "hgvsWellDefined": "XP_011510173.1:p.Gln417_Pro1066delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542329" }, { "coordinates": [ { "allele": "T", "end": 2075, "referenceAllele": "C", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.2:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Gln667Ter", "hgvsWellDefined": "XP_011510174.1:p.Gln667_Arg942delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542330" }, { "coordinates": [ { "allele": "T", "end": 2075, "referenceAllele": "C", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004967.1:c.1999C>T" ], "proteinEffect": { "hgvs": "XP_016860456.1:p.Gln667Ter", "hgvsWellDefined": "XP_016860456.1:p.Gln667_Leu1314delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560340" }, { "coordinates": [ { "allele": "T", "end": 4809, "referenceAllele": "C", "start": 4808 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004968.2:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016860457.1:p.Gln449Ter", "hgvsWellDefined": "XP_016860457.1:p.Gln449_Pro1098delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560341" }, { "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004969.1:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_016860458.1:p.Gln334Ter", "hgvsWellDefined": "XP_016860458.1:p.Gln334_Pro983delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560342" }, { "@id": "http://reg.genome.network/allele/PA658830419", "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.5:c.1999C>T" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Gln667Ter", "hgvsWellDefined": "NP_079029.3:p.Gln667_Pro1316delinsGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670779", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1999C>T" }, "RefSeq": { "hgvs": "NM_024753.5:c.1999C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Gln667Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Gln667Ter" } } } } ], "type": "nucleotide" }