{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279421", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214253[alleleid]", "alleleId": 214253, "preferredName": "NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217543", "RCV": [ "RCV000201621", "RCV001853230" ], "variationId": 217543 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135776956C>T?assembly=hg19", "id": "chr6:g.135776956C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135455818C>T?assembly=hg38", "id": "chr6:g.135455818C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863225143", "rs": 863225143 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135776956-C-T?dataset=gnomad_r2_1", "id": "6-135776956-C-T", "variant": "6:135776956 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135455818-C-T?dataset=gnomad_r3", "id": "6-135455818-C-T", "variant": "6:135455818 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135455818-C-T?dataset=gnomad_r4", "id": "6-135455818-C-T", "variant": "6:135455818 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 135455818, "referenceAllele": "C", "start": 135455817 } ], "hgvs": [ "NC_000006.12:g.135455818C>T", "CM000668.2:g.135455818C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 135776956, "referenceAllele": "C", "start": 135776955 } ], "hgvs": [ "NC_000006.11:g.135776956C>T", "CM000668.1:g.135776956C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 135818649, "referenceAllele": "C", "start": 135818648 } ], "hgvs": [ "NC_000006.10:g.135818649C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 46948, "referenceAllele": "G", "start": 46947 } ], "hgvs": [ "NG_008643.1:g.46948G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "A", "end": 46948, "referenceAllele": "G", "start": 46947 } ], "hgvs": [ "NG_008643.2:g.46948G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Trp420Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.1260G>A" }, "RefSeq": { "hgvs": "NM_001134831.2:c.1260G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Trp420Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Trp420Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.7:c.312G>A" ], "proteinEffect": { "hgvs": "ENSP00000356773.3:p.Trp104Ter", "hgvsWellDefined": "ENSP00000356773.3:p.Trp104_Gly845delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValAsnValPheGluHisThrTyrTyrIleCysThrLeuIlePheThrLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750079" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.1445G>A" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:n.1445G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779065" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679450.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000506494.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000506494.1:p.Trp420_Glu1109delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "A", "end": 1840, "referenceAllele": "G", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*1288G>A" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*1288G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "A", "end": 1622, "referenceAllele": "G", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000506261.1:p.Trp420_Ala1064delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505364.1:p.Trp420_Ala1064delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505697.1:p.Trp420_Lys1144delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000504890.1:p.Trp420_Lys1144delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505502.1:p.Trp420_Ser1168delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505663.1:p.Trp420_Leu1179delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.1445G>A" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:n.1445G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000506009.1:p.Trp420_Asn1068delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrTrpLeuPheMetThrThrGlnArgIleAspGlnMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.1445G>A" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:n.1445G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "A", "end": 4003, "referenceAllele": "G", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.4003G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505297.1:p.Trp420_Lys1014delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.1445G>A" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:n.1445G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505809.1:p.Trp420_Ala1064delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "G", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505398.1:p.Trp420_Ser808delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysIleSerSerLysGluValCysArgSerSerLysLeuSerGlyGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "A", "end": 4210, "referenceAllele": "G", "start": 4209 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505121.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681057.1:n.716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780670" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681095.1:n.715G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780707" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505093.1:p.Trp420_Glu1145delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.1777G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "A", "end": 1746, "referenceAllele": "G", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505666.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "A", "end": 1962, "referenceAllele": "G", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000506604.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "A", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.*47G>A" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:n.*47G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505884.1:p.Trp420_Phe838delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgMetArgThrSerSerHisValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000506005.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000504895.1:p.Trp420_Leu1186delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "A", "end": 1473, "referenceAllele": "G", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505266.1:p.Trp420_Lys1014delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000506505.1:p.Trp420_Gln1154delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysAlaGlySerArgProValThrGlnValGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000505608.1:p.Trp420_Lys1014delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "A", "end": 1763, "referenceAllele": "G", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000504965.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "A", "end": 931, "endIntronDirection": "+", "endIntronOffset": 7307, "referenceAllele": "G", "start": 931, "startIntronDirection": "+", "startIntronOffset": 7306 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.931+7307G>A" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:n.931+7307G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.1764G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "A", "end": 1655, "referenceAllele": "G", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Trp420Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "A", "end": 1539, "referenceAllele": "G", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Trp420Ter", "hgvsWellDefined": "ENSP00000322478.6:p.Trp420_His1053delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "A", "end": 1477, "referenceAllele": "G", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Trp420Ter", "hgvsWellDefined": "ENSP00000356774.4:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "G", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Trp420Ter", "hgvsWellDefined": "ENSP00000388650.2:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.1260G>A" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:p.Trp420Ter", "hgvsWellDefined": "ENSP00000432167.1:p.Trp420_Tyr609delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnGluAsnGluAspValPheValLeuIleSerProThrMetGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783423", "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Trp420Ter", "hgvsWellDefined": "NP_001128302.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA279422", "coordinates": [ { "allele": "A", "end": 1644, "referenceAllele": "G", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Trp420Ter", "hgvsWellDefined": "NP_001128303.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825785100", "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "G", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Trp420Ter", "hgvsWellDefined": "NP_001128304.1:p.Trp420_His1053delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA916054797", "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "G", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Trp420Ter", "hgvsWellDefined": "NP_060121.3:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "A", "end": 1778, "referenceAllele": "G", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534212.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "A", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534213.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534214.1:p.Trp420_Leu1186delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534215.1:p.Trp420_Leu1186delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534216.1:p.Trp420_Leu1179delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534217.1:p.Trp420_Ser1168delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534218.1:p.Trp420_Arg1064delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.1553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545465", "coordinates": [ { "allele": "A", "end": 1753, "referenceAllele": "G", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Trp420Ter", "hgvsWellDefined": "NP_001337432.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546332", "coordinates": [ { "allele": "A", "end": 1644, "referenceAllele": "G", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Trp420Ter", "hgvsWellDefined": "NP_001337433.1:p.Trp420_Ser1168delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "A", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534212.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "A", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Trp420Ter", "hgvsWellDefined": "XP_011534213.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Trp420Ter", "hgvsWellDefined": "XP_016866467.1:p.Trp420_Leu1186delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Trp420Ter", "hgvsWellDefined": "XP_016866468.1:p.Trp420_Leu1186delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Trp420Ter", "hgvsWellDefined": "XP_016866469.1:p.Trp420_Leu1179delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.1206G>A" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Trp402Ter", "hgvsWellDefined": "XP_016866470.1:p.Trp402_Glu1178delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Trp420Ter", "hgvsWellDefined": "XP_016866473.1:p.Trp420_His1053delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "G", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.1206G>A" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Trp402Ter", "hgvsWellDefined": "XP_024302247.1:p.Trp402_Glu1178delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580141" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446480.1:c.1260G>A" ], "proteinEffect": { "hgvs": "XP_024302248.1:p.Trp420Ter", "hgvsWellDefined": "XP_024302248.1:p.Trp420_Arg1064delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580142" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743479.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592684" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743480.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592685" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743481.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592686" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 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"http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.1650G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA279422", "coordinates": [ { "allele": "A", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Trp420Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS663634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.1260G>A" }, "RefSeq": { "hgvs": "NM_001134831.2:c.1260G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Trp420Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Trp420Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783423", "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Trp420Ter", "hgvsWellDefined": "NP_001128302.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825785100", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Trp420Ter", "hgvsWellDefined": "NP_001128304.1:p.Trp420_His1053delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545465", "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Trp420Ter", "hgvsWellDefined": "NP_001337432.1:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546332", "coordinates": [ { "allele": "A", "end": 1619, "referenceAllele": "G", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Trp420Ter", "hgvsWellDefined": "NP_001337433.1:p.Trp420_Ser1168delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA916054797", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.1260G>A" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Trp420Ter", "hgvsWellDefined": "NP_060121.3:p.Trp420_Glu1196delinsGluGluGlnIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }