{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259900", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39717[alleleid]", "alleleId": 39717, "preferredName": "NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30760", "RCV": [ "RCV000023739", "RCV000255060", "RCV001074225", "RCV001172379", "RCV001390240" ], "variationId": 30760 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135778798G>A?assembly=hg19", "id": "chr6:g.135778798G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135457660G>A?assembly=hg38", "id": "chr6:g.135457660G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201391050", "rs": 201391050 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135778798-G-A?dataset=gnomad_r2_1", "id": "6-135778798-G-A", "variant": "6:135778798 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135457660-G-A?dataset=gnomad_r3", "id": "6-135457660-G-A", "variant": "6:135457660 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135457660-G-A?dataset=gnomad_r4", "id": "6-135457660-G-A", "variant": "6:135457660 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135457660, "referenceAllele": "G", "start": 135457659 } ], "hgvs": [ "NC_000006.12:g.135457660G>A", "CM000668.2:g.135457660G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135778798, "referenceAllele": "G", "start": 135778797 } ], "hgvs": [ "NC_000006.11:g.135778798G>A", "CM000668.1:g.135778798G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135820491, "referenceAllele": "G", "start": 135820490 } ], "hgvs": [ "NC_000006.10:g.135820491G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 45106, "referenceAllele": "C", "start": 45105 } ], "hgvs": [ "NG_008643.1:g.45106C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "T", "end": 45106, "referenceAllele": "C", "start": 45105 } ], "hgvs": [ "NG_008643.2:g.45106C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Arg329Ter", "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.985C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.985C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Arg329Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Arg329Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 37, "referenceAllele": "C", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.7:c.37C>T" ], "proteinEffect": { "hgvs": "ENSP00000356773.3:p.Arg13Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750079" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505592.1:p.Arg329_Leu427delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779065" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679450.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506494.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506494.1:p.Arg329_Glu1109delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*1013C>T" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*1013C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506261.1:p.Arg329_Ala1064delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505364.1:p.Arg329_Ala1064delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505697.1:p.Arg329_Lys1144delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000504890.1:p.Arg329_Lys1144delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505502.1:p.Arg329_Ser1168delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505663.1:p.Arg329_Leu1179delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506403.1:p.Arg329_Leu427delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506009.1:p.Arg329_Asn1068delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrTrpLeuPheMetThrThrGlnArgIleAspGlnMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506153.1:p.Arg329_Leu427delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "T", "end": 3728, "referenceAllele": "C", "start": 3727 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.3728C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505297.1:p.Arg329_Lys1014delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505224.1:p.Arg329_Leu427delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspArgAsnGluValSerSerCysTyrProGlyTrpSerGlnThrProGluLeuLysGlnSerThrCysLeuSerLeuProLysCysTrpGlyTyrArgLeuGluProLeuCysLeuAlaMetSerIleLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505809.1:p.Arg329_Ala1064delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505398.1:p.Arg329_Ser808delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysIleSerSerLysGluValCysArgSerSerLysLeuSerGlyGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "T", "end": 3935, "referenceAllele": "C", "start": 3934 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505121.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505093.1:p.Arg329_Glu1145delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "T", "end": 1502, "referenceAllele": "C", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.1502C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505666.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "T", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506604.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "T", "end": 1128, "endIntronDirection": "-", "endIntronOffset": 1733, "referenceAllele": "C", "start": 1128, "startIntronDirection": "-", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.932-1734C>T" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:n.932-1734C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505884.1:p.Arg329_Phe838delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgMetArgThrSerSerHisValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506005.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000504895.1:p.Arg329_Leu1186delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505266.1:p.Arg329_Lys1014delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000506505.1:p.Arg329_Gln1154delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysAlaGlySerArgProValThrGlnValGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000505608.1:p.Arg329_Lys1014delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "T", "end": 1488, "referenceAllele": "C", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000504965.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "T", "end": 931, "endIntronDirection": "+", "endIntronOffset": 5465, "referenceAllele": "C", "start": 931, "startIntronDirection": "+", "startIntronOffset": 5464 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.931+5465C>T" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:n.931+5465C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.1489C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "C", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Arg329Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Arg329Ter", "hgvsWellDefined": "ENSP00000322478.6:p.Arg329_His1053delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Arg329Ter", "hgvsWellDefined": "ENSP00000356774.4:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Arg329Ter", "hgvsWellDefined": "ENSP00000388650.2:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.985C>T" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:p.Arg329Ter", "hgvsWellDefined": "ENSP00000432167.1:p.Arg329_Tyr609delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnGluAsnGluAspValPheValLeuIleSerProThrMetGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783356", "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Arg329Ter", "hgvsWellDefined": "NP_001128302.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA259901", "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Arg329Ter", "hgvsWellDefined": "NP_001128303.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825785031", "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Arg329Ter", "hgvsWellDefined": "NP_001128304.1:p.Arg329_His1053delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA645478937", "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.985C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Arg329Ter", "hgvsWellDefined": "NP_060121.3:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "T", "end": 1503, "referenceAllele": "C", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534212.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534213.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534214.1:p.Arg329_Leu1186delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534215.1:p.Arg329_Leu1186delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534216.1:p.Arg329_Leu1179delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534217.1:p.Arg329_Ser1168delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534218.1:p.Arg329_Arg1064delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545396", "coordinates": [ { "allele": "T", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Arg329Ter", "hgvsWellDefined": "NP_001337432.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546263", "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Arg329Ter", "hgvsWellDefined": "NP_001337433.1:p.Arg329_Ser1168delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "T", "end": 1545, "referenceAllele": "C", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534212.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.985C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Arg329Ter", "hgvsWellDefined": "XP_011534213.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.985C>T" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Arg329Ter", "hgvsWellDefined": "XP_016866467.1:p.Arg329_Leu1186delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.985C>T" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Arg329Ter", "hgvsWellDefined": "XP_016866468.1:p.Arg329_Leu1186delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.985C>T" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Arg329Ter", "hgvsWellDefined": "XP_016866469.1:p.Arg329_Leu1179delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "T", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.931C>T" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Arg311Ter", "hgvsWellDefined": "XP_016866470.1:p.Arg311_Glu1178delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.985C>T" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Arg329Ter", "hgvsWellDefined": "XP_016866473.1:p.Arg329_His1053delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.931C>T" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Arg311Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580141" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446480.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_024302248.1:p.Arg329Ter", "hgvsWellDefined": 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1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743485.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592690" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743486.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592691" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743487.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592692" }, { "coordinates": [ { "allele": "T", "end": 1617, "referenceAllele": "C", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743488.1:n.1617C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.1375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA259901", "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Arg329Ter", "hgvsWellDefined": "NP_001128303.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.985C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.985C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Arg329Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Arg329Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783356", "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Arg329Ter", "hgvsWellDefined": "NP_001128302.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825785031", "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Arg329Ter", "hgvsWellDefined": "NP_001128304.1:p.Arg329_His1053delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545396", "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Arg329Ter", "hgvsWellDefined": "NP_001337432.1:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546263", "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Arg329Ter", "hgvsWellDefined": "NP_001337433.1:p.Arg329_Ser1168delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA645478937", "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.985C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Arg329Ter", "hgvsWellDefined": "NP_060121.3:p.Arg329_Glu1196delinsAspSerProValTyrProLysCysLeuLeuAspAspAspLeuValLeuGlyValTyrIleHisArgThrAspArgLeuLysSerAspPheMetIleSerHisProMetValLysIleHisValValAspGluHisThrGlyGlnTyrValLysLysAspAspSerGlyArgProValSerSerTyrTyrGluLysGluAsnValAspTyrIleLeuProIleMetThrGlnProTyrAspPheLysGlnLeuLysSerArgLeuProGluTrpGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }