{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1941813", "communityStandardTitle": [ "NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440056[alleleid]", "alleleId": 440056, "preferredName": "NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446649", "RCV": [ "RCV000515936", "RCV003151077", "RCV002525013", "RCV004541600" ], "variationId": 446649 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-166764256-G-A", "id": "2-166764256-G-A", "variant": "2:166764256 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166764256G>A?assembly=hg19", "id": "chr2:g.166764256G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165907746G>A?assembly=hg38", "id": "chr2:g.165907746G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/79746977", "rs": 79746977 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166764256-G-A?dataset=gnomad_r2_1", "id": "2-166764256-G-A", "variant": "2:166764256 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165907746-G-A?dataset=gnomad_r3", "id": "2-165907746-G-A", "variant": "2:165907746 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165907746-G-A?dataset=gnomad_r4", "id": "2-165907746-G-A", "variant": "2:165907746 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 165907746, "referenceAllele": "G", "start": 165907745 } ], "hgvs": [ "NC_000002.12:g.165907746G>A", "CM000664.2:g.165907746G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166764256, "referenceAllele": "G", "start": 166764255 } ], "hgvs": [ "NC_000002.11:g.166764256G>A", "CM000664.1:g.166764256G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166472502, "referenceAllele": "G", "start": 166472501 } ], "hgvs": [ "NC_000002.10:g.166472502G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 51093, "referenceAllele": "C", "start": 51092 } ], "hgvs": [ "NG_030345.1:g.51093C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004902" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.8:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Gln834Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Gln834_Pro1316delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741172", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.2500C>T" }, "RefSeq": { "hgvs": "NM_024753.5:c.2500C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Gln834Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Gln834Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000652557.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000498617.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000498617.1:p.Gln834_Met1274delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772275" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679356.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000506245.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000506245.1:p.Gln834_Pro1315delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778989" }, { "coordinates": [ { "allele": "T", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679676.1:c.2389C>T" ], "proteinEffect": { "hgvs": "ENSP00000505492.1:p.Gln797Ter", "hgvsWellDefined": "ENSP00000505492.1:p.Gln797_Pro1279delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779303" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679799.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000505208.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000505208.1:p.Gln834_Met1274delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyPheAspCysLeuMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779423" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679840.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000505248.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000505248.1:p.Gln834_Tyr1323delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyGluPheGlyAsnHisLeuAspPheSerGlnLysAsnTyrValValPheIleAsnPheHisLeuAsnAlaPheAspPhePheGlnAsnLysIleAsnIleGluSerIlePheIleValAsnLeuSerGluArgArgIleAsnPheIlePheIleIleTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779462" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679931.1:c.*1542C>T" ], "proteinEffect": { "hgvs": "ENSP00000505632.1:n.*1542C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779553" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000679967.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000506607.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000506607.1:p.Gln834_Pro1313delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluHisAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779589" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680327.1:c.*1542C>T" ], "proteinEffect": { "hgvs": "ENSP00000506639.1:n.*1542C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779945" }, { "coordinates": [ { "allele": "T", "end": 2636, "referenceAllele": "C", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680448.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000505921.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000505921.1:p.Gln834_Glu1056delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780065" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680657.1:n.2611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780272" }, { "coordinates": [ { "allele": "T", "end": 2687, "referenceAllele": "C", "start": 2686 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680690.1:c.*1752C>T" ], "proteinEffect": { "hgvs": "ENSP00000506121.1:n.*1752C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780305" }, { "coordinates": [ { "allele": "T", "end": 2646, "referenceAllele": "C", "start": 2645 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680888.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000506276.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000506276.1:p.Gln834_Pro1316delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780502" }, { "coordinates": [ { "allele": "T", "end": 2467, "referenceAllele": "C", "start": 2466 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000680947.1:c.*1772C>T" ], "proteinEffect": { "hgvs": "ENSP00000506496.1:n.*1772C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780561" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "C", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681024.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000506449.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000506449.1:p.Gln834_Leu1314delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780637" }, { "coordinates": [ { "allele": "T", "end": 2667, "referenceAllele": "C", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681083.1:c.*2234C>T" ], "proteinEffect": { "hgvs": "ENSP00000506095.1:n.*2234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780696" }, { "coordinates": [ { "allele": "T", "end": 2374, "referenceAllele": "C", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681167.1:n.2374C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780779" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681483.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000505499.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000505499.1:p.Gln834_Ile1049delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProGluAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781089" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681502.1:c.*1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000505644.1:n.*1924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781108" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681606.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000505354.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000505354.1:p.Gln834_Lys1004delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProValMetLeuLysGlyValValAsnLysIleSerGlyProLysIleValCysGlnGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781212" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681819.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000505673.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000505673.1:p.Gln834_Ile1048delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspValGluAsnSerArgMetSerGlnAspPheSerGlnTrpLeuArgAsnValThrProGluGlnAsnTrpAsnGlnAspPheSerIleValLysAspCysIlePheGlyThrLeuGluAsnGlnMetMetProPheAspIleLeuIleLysLeuGlyLysIleValThrGlyAlaLysMetProPheIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781421" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000681952.1:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000506400.1:p.Gln834Ter", "hgvsWellDefined": "ENSP00000506400.1:p.Gln834_Pro1316delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781550" }, { "coordinates": [ { "allele": "T", "end": 2638, "referenceAllele": "C", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "ENST00000243344.7:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000243344.7:p.Gln834Ter", "hgvsWellDefined": "ENSP00000243344.7:p.Gln834_Pro1316delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249260" }, { "@id": "http://reg.genome.network/allele/PA658678608", "coordinates": [ { "allele": "T", "end": 2633, "referenceAllele": "C", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.4:c.2500C>T" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Gln834Ter", "hgvsWellDefined": "NP_079029.3:p.Gln834_Pro1316delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037987" }, { "coordinates": [ { "allele": "T", "end": 2576, "referenceAllele": "C", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_006712761.1:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_006712824.1:p.Gln834Ter", "hgvsWellDefined": "XP_006712824.1:p.Gln834_Glu1056delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspSerSerSerSerGlyIleThrProTyrSerGlnTyrGlnThrLysCysHisThrHisGlyCysGlyAsnIleAspValTyrTrpLeuAsnGlySerValAsnAspCysLysThrProSerGlnLeuLysThrGlnGlnGluAsnArgLeuAsnLeuGlyGlyGlyGlyCysArgGluProArgSerHisHisCysThrProAlaSerValThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069809" }, { "coordinates": [ { "allele": "T", "end": 2153, "referenceAllele": "C", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511870.1:c.1933C>T" ], "proteinEffect": { "hgvs": "XP_011510172.1:p.Gln645Ter", "hgvsWellDefined": "XP_011510172.1:p.Gln645_Pro1127delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079129" }, { "coordinates": [ { "allele": "T", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.1:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Gln584Ter", "hgvsWellDefined": "XP_011510173.1:p.Gln584_Pro1066delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079130" }, { "coordinates": [ { "allele": "T", "end": 2576, "referenceAllele": "C", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.1:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Gln834Ter", "hgvsWellDefined": "XP_011510174.1:p.Gln834_Arg942delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079131" }, { "coordinates": [ { "allele": "T", "end": 5879, "referenceAllele": "C", "start": 5878 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511871.3:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_011510173.1:p.Gln584Ter", "hgvsWellDefined": "XP_011510173.1:p.Gln584_Pro1066delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542329" }, { "coordinates": [ { "allele": "T", "end": 2576, "referenceAllele": "C", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_011511872.2:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_011510174.1:p.Gln834Ter", "hgvsWellDefined": "XP_011510174.1:p.Gln834_Arg942delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysCysLeuMetAsnLeuAlaLeuCysSerThrAspTyrValGlyThrGlyThrIleIleProGlyThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542330" }, { "coordinates": [ { "allele": "T", "end": 2576, "referenceAllele": "C", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004967.1:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_016860456.1:p.Gln834Ter", "hgvsWellDefined": "XP_016860456.1:p.Gln834_Leu1314delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValAspHisAspProLeuAsnCysAsnLeuGlnSerCysValLeuGlyLeuValPheLysProSerAlaValThrCysProPhePheLeuArgLeuAspSerGluSerLeuIlePheLeuValAlaValSerTrpLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560340" }, { "coordinates": [ { "allele": "T", "end": 5310, "referenceAllele": "C", "start": 5309 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004968.2:c.1846C>T" ], "proteinEffect": { "hgvs": "XP_016860457.1:p.Gln616Ter", "hgvsWellDefined": "XP_016860457.1:p.Gln616_Pro1098delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560341" }, { "coordinates": [ { "allele": "T", "end": 2293, "referenceAllele": "C", "start": 2292 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "XM_017004969.1:c.1501C>T" ], "proteinEffect": { "hgvs": "XP_016860458.1:p.Gln501Ter", "hgvsWellDefined": "XP_016860458.1:p.Gln501_Pro983delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560342" }, { "@id": "http://reg.genome.network/allele/PA658678608", "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN025660", "geneNCBI_id": 79809, "geneSymbol": "TTC21B", "hgvs": [ "NM_024753.5:c.2500C>T" ], "proteinEffect": { "hgvs": "NP_079029.3:p.Gln834Ter", "hgvsWellDefined": "NP_079029.3:p.Gln834_Pro1316delinsValLeuLeuAlaLysValTyrSerLysMetGluLysLeuGlyAspAlaIleThrAlaLeuGlnGlnAlaArgGluLeuGlnAlaArgValLeuLysArgValGlnMetGluGlnProAspAlaValProAlaGlnLysHisLeuAlaAlaGluIleCysAlaGluIleAlaLysHisSerValAlaGlnArgAspTyrGluLysAlaIleLysPheTyrArgGluAlaLeuValHisCysGluThrAspAsnLysIleMetLeuGluLeuAlaArgLeuTyrLeuAlaGlnAspAspProAspSerCysLeuArgGlnCysAlaLeuLeuLeuGlnSerAspGlnAspAsnGluAlaAlaThrMetMetMetAlaAspLeuMetPheArgLysGlnAspTyrGluGlnAlaValPheHisLeuGlnGlnLeuLeuGluArgLysProAspAsnTyrMetThrLeuSerArgLeuIleAspLeuLeuArgArgCysGlyLysLeuGluAspValProArgPhePheSerMetAlaGluLysArgAsnSerArgAlaLysLeuGluProGlyPheGlnTyrCysLysGlyLeuTyrLeuTrpTyrThrGlyGluProAsnAspAlaLeuArgHisPheAsnLysAlaArgLysAspArgAspTrpGlyGlnAsnAlaLeuTyrAsnMetIleGluIleCysLeuAsnProAspAsnGluThrValGlyGlyGluValPheGluAsnLeuAspGlyAspLeuGlyAsnSerThrGluLysGlnGluSerValGlnLeuAlaValArgThrAlaGluLysLeuLeuLysGluLeuLysProGlnThrValGlnGlyHisValGlnLeuArgIleMetGluAsnTyrCysLeuMetAlaThrLysGlnLysSerAsnValGluGlnAlaLeuAsnThrPheThrGluIleAlaAlaSerGluLysGluHisIleProAlaLeuLeuGlyMetAlaThrAlaTyrMetIleLeuLysGlnThrProArgAlaArgAsnGlnLeuLysArgIleAlaLysMetAsnTrpAsnAlaIleAspAlaGluGluPheGluLysSerTrpLeuLeuLeuAlaAspIleTyrIleGlnSerAlaLysTyrAspMetAlaGluAspLeuLeuLysArgCysLeuArgHisAsnArgSerCysCysLysAlaTyrGluTyrMetGlyTyrIleMetGluLysGluGlnAlaTyrThrAspAlaAlaLeuAsnTyrGluMetAlaTrpLysTyrSerAsnArgThrAsnProAlaValGlyTyrLysLeuAlaPheAsnTyrLeuLysAlaLysArgTyrValAspSerIleAspIleCysHisGlnValLeuGluAlaHisProThrTyrProLysIleArgLysAspIleLeuAspLysAlaArgAlaSerLeuArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670779", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000243344.8:c.2500C>T" }, "RefSeq": { "hgvs": "NM_024753.5:c.2500C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000243344.7:p.Gln834Ter" }, "RefSeq": { "hgvs": "NP_079029.3:p.Gln834Ter" } } } } ], "type": "nucleotide" }