{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279546", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214257[alleleid]", "alleleId": 214257, "preferredName": "NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217542", "RCV": [ "RCV000201760", "RCV002287391", "RCV003330575" ], "variationId": 217542 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135786965T>A?assembly=hg19", "id": "chr6:g.135786965T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135465827T>A?assembly=hg38", "id": "chr6:g.135465827T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863225142", "rs": 863225142 } ], "gnomAD_2": [ { "@id": 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"T", "start": 135828657 } ], "hgvs": [ "NC_000006.10:g.135828658T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 36939, "referenceAllele": "A", "start": 36938 } ], "hgvs": [ "NG_008643.1:g.36939A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "T", "end": 36939, "referenceAllele": "A", "start": 36938 } ], "hgvs": [ "NG_008643.2:g.36939A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "A", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Lys246Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.736A>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.736A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Lys246Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Lys246Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:p.Lys246Ter", "hgvsWellDefined": 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"ENSP00000506494.1:p.Lys246_Glu1109delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*764A>T" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*764A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "A", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Lys246Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505364.1:p.Lys246_Ala1064delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505697.1:p.Lys246_Lys1144delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000504890.1:p.Lys246_Lys1144delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505502.1:p.Lys246_Ser1168delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505663.1:p.Lys246_Leu1179delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506403.1:p.Lys246_Leu427delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506009.1:p.Lys246_Asn1068delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrTrpLeuPheMetThrThrGlnArgIleAspGlnMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506153.1:p.Lys246_Leu427delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "A", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.972A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505297.1:p.Lys246_Lys1014delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505224.1:p.Lys246_Leu427delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505809.1:p.Lys246_Ala1064delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "A", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505398.1:p.Lys246_Ser808delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysIleSerSerLysGluValCysArgSerSerLysLeuSerGlyGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "T", "end": 3686, "referenceAllele": "A", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505121.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505093.1:p.Lys246_Glu1145delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "A", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.1253A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "A", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505666.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "T", "end": 1438, "referenceAllele": "A", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506604.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000504989.1:p.Lys246_Leu330delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAspGlyLeuPheHisLeuThrMetLysLysArgMetTrpIleIlePhePheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505884.1:p.Lys246_Phe838delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgMetArgThrSerSerHisValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506005.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000504895.1:p.Lys246_Leu1186delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "A", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505266.1:p.Lys246_Lys1014delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506505.1:p.Lys246_Gln1154delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysAlaGlySerArgProValThrGlnValGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000505608.1:p.Lys246_Lys1014delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "A", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000504965.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "A", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000506250.1:p.Lys246_Tyr333delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaAlaSerGlySerGlnTrpLysCysLysHisGlnLeuLysThrSerLeuAlaAlaIleLeuProThrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.1240A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "A", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Lys246Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "A", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Lys246Ter", "hgvsWellDefined": "ENSP00000322478.6:p.Lys246_His1053delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Lys246Ter", "hgvsWellDefined": "ENSP00000356774.4:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Lys246Ter", "hgvsWellDefined": "ENSP00000388650.2:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "A", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000524469.5:c.682A>T" ], "proteinEffect": { "hgvs": "ENSP00000433063.1:p.Lys228Ter", "hgvsWellDefined": "ENSP00000433063.1:p.Lys228Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS350623" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "A", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.736A>T" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:p.Lys246Ter", "hgvsWellDefined": "ENSP00000432167.1:p.Lys246_Tyr609delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnGluAsnGluAspValPheValLeuIleSerProThrMetGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783305", "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "A", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Lys246Ter", "hgvsWellDefined": "NP_001128302.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA279547", "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "A", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Lys246Ter", "hgvsWellDefined": "NP_001128303.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825784982", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Lys246Ter", "hgvsWellDefined": "NP_001128304.1:p.Lys246_His1053delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA916054760", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.736A>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Lys246Ter", "hgvsWellDefined": "NP_060121.3:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "A", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534212.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "A", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534213.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534214.1:p.Lys246_Leu1186delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534215.1:p.Lys246_Leu1186delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534216.1:p.Lys246_Leu1179delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534217.1:p.Lys246_Ser1168delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534218.1:p.Lys246_Arg1064delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.1029A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545346", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "A", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Lys246Ter", "hgvsWellDefined": "NP_001337432.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546213", "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "A", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Lys246Ter", "hgvsWellDefined": "NP_001337433.1:p.Lys246_Ser1168delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "A", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534212.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "A", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.736A>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Lys246Ter", "hgvsWellDefined": "XP_011534213.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.736A>T" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Lys246Ter", "hgvsWellDefined": "XP_016866467.1:p.Lys246_Leu1186delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.736A>T" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Lys246Ter", "hgvsWellDefined": "XP_016866468.1:p.Lys246_Leu1186delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.736A>T" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Lys246Ter", "hgvsWellDefined": "XP_016866469.1:p.Lys246_Leu1179delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "T", "end": 1072, "referenceAllele": "A", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.682A>T" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Lys228Ter", "hgvsWellDefined": "XP_016866470.1:p.Lys228_Glu1178delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.736A>T" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Lys246Ter", "hgvsWellDefined": "XP_016866473.1:p.Lys246_His1053delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "A", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.682A>T" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Lys228Ter", "hgvsWellDefined": "XP_024302247.1:p.Lys228_Glu1178delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580141" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446480.1:c.736A>T" ], "proteinEffect": { "hgvs": "XP_024302248.1:p.Lys246Ter", "hgvsWellDefined": 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1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743485.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592690" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743486.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592691" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743487.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592692" }, { "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "A", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743488.1:n.1368A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.1126A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA279547", "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "A", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Lys246Ter", "hgvsWellDefined": "NP_001128303.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.736A>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.736A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Lys246Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Lys246Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783305", "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "A", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Lys246Ter", "hgvsWellDefined": "NP_001128302.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825784982", "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "A", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Lys246Ter", "hgvsWellDefined": "NP_001128304.1:p.Lys246_His1053delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545346", "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "A", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Lys246Ter", "hgvsWellDefined": "NP_001337432.1:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546213", "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "A", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.736A>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Lys246Ter", "hgvsWellDefined": "NP_001337433.1:p.Lys246_Ser1168delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA916054760", "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "A", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.736A>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Lys246Ter", "hgvsWellDefined": "NP_060121.3:p.Lys246_Glu1196delinsAlaGluThrSerThrLeuThrIleSerGlyAspThrValGluGlyGluGlnLysLysGluSerSerValArgSerValSerSerAspSerHisGlnAspAspGluIleSerSerMetGluGlnSerThrGluAspSerMetGlnAspAspThrLysProLysProLysLysThrLysLysLysThrLysAlaValAlaAspAsnAsnGluAspValAspGlyAspGlyValHisGluIleThrSerArgAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }