{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129549", "communityStandardTitle": [ "NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39895[alleleid]", "alleleId": 39895, "preferredName": "NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30938", "RCV": [ "RCV000023927", "RCV000627256", "RCV001857364" ], "variationId": 30938 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-166785800-G-A", "id": "2-166785800-G-A", "variant": "2:166785800 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166785800G>A?assembly=hg19", "id": "chr2:g.166785800G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165929290G>A?assembly=hg38", "id": "chr2:g.165929290G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/185089786", "rs": 185089786 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166785800-G-A?dataset=gnomad_r2_1", "id": "2-166785800-G-A", "variant": "2:166785800 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165929290-G-A?dataset=gnomad_r3", "id": "2-165929290-G-A", "variant": "2:165929290 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165929290-G-A?dataset=gnomad_r4", "id": "2-165929290-G-A", "variant": "2:165929290 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 165929290, "referenceAllele": "G", "start": 165929289 } ], "hgvs": [ "NC_000002.12:g.165929290G>A", "CM000664.2:g.165929290G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166785800, "referenceAllele": "G", "start": 166785799 } ], "hgvs": [ "NC_000002.11:g.166785800G>A", "CM000664.1:g.166785800G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166494046, "referenceAllele": "G", "start": 166494045 } ], "hgvs": [ "NC_000002.10:g.166494046G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 29549, "referenceAllele": "C", "start": 29548 } ], "hgvs": [ "NG_030345.1:g.29549C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004902" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1302, "referenceAllele": "C", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.8:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Arg411Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Arg411_Pro1316delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741172", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1231C>T" }, "RefSeq": { "hgvs": "NM_024753.5:c.1231C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Arg411Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Arg411Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000652557.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000498617.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000498617.1:p.Arg411_Met1274delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772275" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679356.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000506245.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000506245.1:p.Arg411_Pro1315delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778989" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679671.1:n.1344C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779298" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679676.1:c.1120C>T" ], "proteinEffect": { "hgvs": "ENSP00000505492.1:p.Arg374Ter", "hgvsWellDefined": "ENSP00000505492.1:p.Arg374_Pro1279delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779303" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679799.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000505208.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000505208.1:p.Arg411_Met1274delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779423" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679840.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000505248.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000505248.1:p.Arg411_Tyr1323delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyGluPheGlyAsnHisLeuAspPheSerGlnLysAsnTyrValValPheIleAsnPheHisLeuAsnAlaPheAspPhePheGlnAsnLysIleAsnIleGluSerIlePheIleValAsnLeuSerGluArgArgIleAsnPheIlePheIleIleTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779462" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679931.1:c.*273C>T" ], "proteinEffect": { "hgvs": "ENSP00000505632.1:n.*273C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779553" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679967.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000506607.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000506607.1:p.Arg411_Pro1313delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluHisAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779589" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680225.1:n.490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779845" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680327.1:c.*273C>T" ], "proteinEffect": { "hgvs": "ENSP00000506639.1:n.*273C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779945" }, { "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680448.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000505921.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000505921.1:p.Arg411_Glu1056delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780065" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680657.1:n.1342C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780272" }, { "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680690.1:c.*483C>T" ], "proteinEffect": { "hgvs": "ENSP00000506121.1:n.*483C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780305" }, { "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680888.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000506276.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000506276.1:p.Arg411_Pro1316delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780502" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680947.1:c.*503C>T" ], "proteinEffect": { "hgvs": "ENSP00000506496.1:n.*503C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780561" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681024.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000506449.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000506449.1:p.Arg411_Leu1314delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780637" }, { "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681083.1:c.*965C>T" ], "proteinEffect": { "hgvs": "ENSP00000506095.1:n.*965C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780696" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681167.1:n.1105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780779" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681483.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000505499.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000505499.1:p.Arg411_Ile1049delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProGluAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781089" }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681502.1:c.*655C>T" ], "proteinEffect": { "hgvs": "ENSP00000505644.1:n.*655C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781108" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681606.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000505354.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000505354.1:p.Arg411_Lys1004delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProValMetLeuLysGlyValValAsnLysIleSerGlyProLysIleValCysGlnGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781212" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681819.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000505673.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000505673.1:p.Arg411_Ile1048delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781421" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681952.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000506400.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000506400.1:p.Arg411_Pro1316delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781550" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.7:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Arg411Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Arg411_Pro1316delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249260" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000464374.5:n.1271C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308221" }, { "@id": "http://reg.genome.network/allele/PA129550", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.4:c.1231C>T" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Arg411Ter", "hgvsWellDefined": "NP_079029.3:p.Arg411_Pro1316delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037987" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_006712761.1:c.1231C>T" ], "proteinEffect": { "hgvs": "XP_006712824.1:p.Arg411Ter", "hgvsWellDefined": "XP_006712824.1:p.Arg411_Glu1056delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069809" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511870.1:c.664C>T" ], "proteinEffect": { "hgvs": "XP_011510172.1:p.Arg222Ter", "hgvsWellDefined": "XP_011510172.1:p.Arg222_Pro1127delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079129" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.1:c.481C>T" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Arg161Ter", "hgvsWellDefined": "XP_011510173.1:p.Arg161_Pro1066delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079130" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.1:c.1231C>T" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Arg411Ter", "hgvsWellDefined": "XP_011510174.1:p.Arg411_Arg942delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079131" }, { "coordinates": [ { "allele": "T", "end": 4610, "referenceAllele": "C", "start": 4609 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.3:c.481C>T" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Arg161Ter", "hgvsWellDefined": "XP_011510173.1:p.Arg161_Pro1066delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542329" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.2:c.1231C>T" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Arg411Ter", "hgvsWellDefined": "XP_011510174.1:p.Arg411_Arg942delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542330" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004967.1:c.1231C>T" ], "proteinEffect": { "hgvs": "XP_016860456.1:p.Arg411Ter", "hgvsWellDefined": "XP_016860456.1:p.Arg411_Leu1314delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560340" }, { "coordinates": [ { "allele": "T", "end": 4041, "referenceAllele": "C", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004968.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_016860457.1:p.Arg193Ter", "hgvsWellDefined": "XP_016860457.1:p.Arg193_Pro1098delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560341" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004969.1:c.232C>T" ], "proteinEffect": { "hgvs": "XP_016860458.1:p.Arg78Ter", "hgvsWellDefined": "XP_016860458.1:p.Arg78_Pro983delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560342" }, { "@id": "http://reg.genome.network/allele/PA129550", "coordinates": [ { "allele": "T", "end": 1302, "referenceAllele": "C", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.5:c.1231C>T" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Arg411Ter", "hgvsWellDefined": "NP_079029.3:p.Arg411_Pro1316delinsGlnGluGluValIleAsnLeuLeuAsnAspValLeuAspThrHisPheSerGlnLeuGluGlyLeuProLeuGlyIleGlnTyrPheGluLysLeuAsnProAspPheLeuLeuGluIleValMetGluTyrLeuSerPheCysProMetGlnProAlaSerProGlyGlnProLeuCysProLeuLeuArgArgCysIleSerValLeuGluThrValValArgThrValProGlyLeuLeuGlnThrValPheLeuIleAlaLysValLysTyrLeuSerGlyAspIleGluAlaAlaPheAsnAsnLeuGlnHisCysLeuGluHisAsnProSerTyrAlaAspAlaHisLeuLeuLeuAlaGlnValTyrLeuSerGlnGluLysValLysLeuCysSerGlnSerLeuGluLeuCysLeuSerTyrAspPheLysValArgAspTyrProLeuTyrHisLeuIleLysAlaGlnSerGlnLysLysMetGlyGluIleAlaAspAlaIleLysThrLeuHisMetAlaMetSerLeuProGlyMetLysArgIleGlyAlaSerThrLysSerLysAspArgLysThrGluValAspThrSerHisArgLeuSerIlePheLeuGluLeuIleAspValHisArgLeuAsnGlyGluGlnHisGluAlaThrLysValLeuGlnAspAlaIleHisGluPheSerGlyThrSerGluGluValArgValThrIleAlaAsnAlaAspLeuAlaLeuAlaGlnGlyAspIleGluArgAlaLeuSerIleLeuGlnAsnValThrAlaGluGlnProTyrPheIleGluAlaArgGluLysMetAlaAspIleTyrLeuLysHisArgLysAspLysMetLeuTyrIleThrCysPheArgGluIleAlaGluArgMetAlaAsnProArgSerPheLeuLeuLeuGlyAspAlaTyrMetAsnIleLeuGluProGluGluAlaIleValAlaTyrGluGlnAlaLeuAsnGlnAsnProLysAspGlyThrLeuAlaSerLysMetGlyLysAlaLeuIleLysThrHisAsnTyrSerMetAlaIleThrTyrTyrGluAlaAlaLeuLysThrGlyGlnLysAsnTyrLeuCysTyrAspLeuAlaGluLeuLeuLeuLysLeuLysTrpTyrAspLysAlaGluLysValLeuGlnHisAlaLeuAlaHisGluProValAsnGluLeuSerAlaLeuMetGluAspGlyArgCysGlnValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670779", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.1231C>T" }, "RefSeq": { "hgvs": "NM_024753.5:c.1231C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Arg411Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Arg411Ter" } } } } ], "type": "nucleotide" }