{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401235375", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=938255[alleleid]", "alleleId": 938255, "preferredName": "NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/933595", "RCV": [ "RCV001201839" ], "variationId": 933595 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76121931G>T?assembly=hg19", "id": "chr17:g.76121931G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78125850G>T?assembly=hg38", "id": "chr17:g.78125850G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371786754", "rs": 371786754 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78125850-G-T?dataset=gnomad_r4", "id": "17-78125850-G-T", "variant": "17:78125850 G / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 78125850, "referenceAllele": "G", "start": 78125849 } ], "hgvs": [ "NC_000017.11:g.78125850G>T", "CM000679.2:g.78125850G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 76121931, "referenceAllele": "G", "start": 76121930 } ], "hgvs": [ "NC_000017.10:g.76121931G>T", "CM000679.1:g.76121931G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 73633526, "referenceAllele": "G", "start": 73633525 } ], "hgvs": [ "NC_000017.9:g.73633526G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 11558, "referenceAllele": "C", "start": 11557 } ], "hgvs": [ "NG_007879.1:g.11558C>A", "LRG_118:g.11558C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "G", "start": 72 } ], "hgvs": [ "NG_007881.1:g.73G>T", "LRG_119:g.73G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000689" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000468255.2:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000466885.2:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*128C>A" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*128C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000513790.1:p.Tyr102_Pro194delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgProCysThrAlaTrpAlaTrpArgCysSerProProCysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000513791.1:p.Tyr102_Ala745delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "A", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*128C>A" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*128C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000513793.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000513794.1:p.Tyr102_Gln714delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysGlyGluAlaLeuGluHisLeuArgProLeuProAspProGlyHisHisValArgGlyArgGlnGlyValGlyAlaProProGlyGlyGlyArgProGlnGlyLeuLeuAlaAlaLeuGlyAlaProValProAspGlyLysHisLeuLeuCysLeuProGlyValSerProAlaAlaGlyArgAspLeuProGlnHisProGlyGlyAlaGlyProAlaGlnGlyHisLeuProAlaGlnGlyAlaAspGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "C", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.306C>A" }, "RefSeq": { "hgvs": "NM_001127198.5:c.306C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Tyr102Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Tyr102Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000306405.6:p.Tyr102_Ala454delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000313408.2:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000376260.2:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586126.1:c.*128C>A" ], "proteinEffect": { "hgvs": "ENSP00000466159.1:n.*128C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS389185" }, { "coordinates": [ { "allele": "A", "end": 40, "referenceAllele": "C", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586271.1:n.40C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389282" }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.499C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000468255.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000468255.1:p.Tyr102_Pro286del" }, "referenceSequence": "http://reg.genome.network/refseq/RS391375" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.-279C>A" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:n.-279C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000591594.5:n.306C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392976" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000466885.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000466885.1:p.Tyr102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393304" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592594.5:c.306C>A" ], "proteinEffect": { "hgvs": "ENSP00000467016.1:p.Tyr102Ter", "hgvsWellDefined": "ENSP00000467016.1:p.Tyr102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393679" }, { "coordinates": [ { "allele": "A", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.886C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628636", "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001120670.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA1139726314", "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.306C>A", "LRG_118t1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Tyr102Ter", "hgvsWellDefined": "NP_009198.4:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Tyr102Ter", "hgvsWellDefined": "XP_005257052.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Tyr102Ter", "hgvsWellDefined": "XP_005257053.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Tyr102Ter", "hgvsWellDefined": "XP_005257054.1:p.Tyr102_Ala745delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.-279C>A" ], "proteinEffect": { "hgvs": "XP_005257055.1:n.-279C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Tyr102Ter", "hgvsWellDefined": "XP_011522557.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Tyr102Ter", "hgvsWellDefined": "XP_011522558.1:p.Tyr102_Ala763delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Tyr102Ter", "hgvsWellDefined": "XP_011522560.1:p.Tyr102_Ala455delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.494C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628636", "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001120670.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082571", "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001308114.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA1139726314", "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.306C>A" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Tyr102Ter", "hgvsWellDefined": "NP_009198.4:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Tyr102Ter", "hgvsWellDefined": "XP_016879596.1:p.Tyr102_Ala745delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Tyr102Ter", "hgvsWellDefined": "XP_016879597.1:p.Tyr102_Ala745delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Tyr102Ter", "hgvsWellDefined": "XP_024306323.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.306C>A" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Tyr102Ter", "hgvsWellDefined": "XP_024306324.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "A", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.-279C>A" ], "proteinEffect": { "hgvs": "XP_024306325.1:n.-279C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.494C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628636", "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "C", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001120670.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.306C>A" }, "RefSeq": { "hgvs": "NM_001127198.5:c.306C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Tyr102Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Tyr102Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528556", "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "C", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001361522.1:p.Tyr102_Ala745delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529037", "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001361523.1:p.Tyr102_Ala745delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584801", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001362282.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585305", "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001362283.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529518", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.306C>A" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Tyr102Ter", "hgvsWellDefined": "NP_001361525.1:p.Tyr102_Ala805delinsAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "C", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.524C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "C", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.524C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "C", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.524C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.477C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }