{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339611", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214252[alleleid]", "alleleId": 214252, "preferredName": "NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217523", "RCV": [ "RCV000201715", "RCV000206729", "RCV000482493", "RCV001074545", "RCV001328119", "RCV001376375", "RCV003317148" ], "variationId": 217523 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-135776949-G-A", "id": "6-135776949-G-A", "variant": "6:135776949 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135776949G>A?assembly=hg19", "id": "chr6:g.135776949G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135455811G>A?assembly=hg38", "id": "chr6:g.135455811G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/777668842", "rs": 777668842 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135776949-G-A?dataset=gnomad_r2_1", "id": "6-135776949-G-A", "variant": "6:135776949 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135455811-G-A?dataset=gnomad_r3", "id": "6-135455811-G-A", "variant": "6:135455811 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135455811-G-A?dataset=gnomad_r4", "id": "6-135455811-G-A", "variant": "6:135455811 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135455811, "referenceAllele": "G", "start": 135455810 } ], "hgvs": [ "NC_000006.12:g.135455811G>A", "CM000668.2:g.135455811G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135776949, "referenceAllele": "G", "start": 135776948 } ], "hgvs": [ "NC_000006.11:g.135776949G>A", "CM000668.1:g.135776949G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135818642, "referenceAllele": "G", "start": 135818641 } ], "hgvs": [ "NC_000006.10:g.135818642G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 46955, "referenceAllele": "C", "start": 46954 } ], "hgvs": [ "NG_008643.1:g.46955C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "T", "end": 46955, "referenceAllele": "C", "start": 46954 } ], "hgvs": [ "NG_008643.2:g.46955C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1626, "referenceAllele": "C", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Gln423Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.1267C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.1267C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Gln423Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Gln423Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 319, "referenceAllele": "C", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.7:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000356773.3:p.Gln107Ter", "hgvsWellDefined": "ENSP00000356773.3:p.Gln107_Gly845delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValAsnValPheGluHisThrTyrTyrIleCysThrLeuIlePheThrLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750079" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.1452C>T" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:n.1452C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779065" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679450.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000506494.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000506494.1:p.Gln423_Glu1109delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "T", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*1295C>T" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*1295C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "T", "end": 1629, "referenceAllele": "C", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000506261.1:p.Gln423_Ala1064delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505364.1:p.Gln423_Ala1064delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505697.1:p.Gln423_Lys1144delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000504890.1:p.Gln423_Lys1144delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505502.1:p.Gln423_Ser1168delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505663.1:p.Gln423_Leu1179delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.1452C>T" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:n.1452C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000506009.1:p.Gln423_Asn1068delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrTrpLeuPheMetThrThrGlnArgIleAspGlnMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.1452C>T" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:n.1452C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "T", "end": 4010, "referenceAllele": "C", "start": 4009 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.4010C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505297.1:p.Gln423_Lys1014delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.1452C>T" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:n.1452C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505809.1:p.Gln423_Ala1064delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "T", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505398.1:p.Gln423_Ser808delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysIleSerSerLysGluValCysArgSerSerLysLeuSerGlyGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "T", "end": 4217, "referenceAllele": "C", "start": 4216 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505121.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681057.1:n.723C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780670" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681095.1:n.722C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780707" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505093.1:p.Gln423_Glu1145delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "T", "end": 1784, "referenceAllele": "C", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.1784C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "T", "end": 1753, "referenceAllele": "C", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505666.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "T", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000506604.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.*54C>T" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:n.*54C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505884.1:p.Gln423_Phe838delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgMetArgThrSerSerHisValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000506005.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000504895.1:p.Gln423_Leu1186delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "T", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505266.1:p.Gln423_Lys1014delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000506505.1:p.Gln423_Gln1154delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysAlaGlySerArgProValThrGlnValGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000505608.1:p.Gln423_Lys1014delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "T", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000504965.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "T", "end": 931, "endIntronDirection": "+", "endIntronOffset": 7314, "referenceAllele": "C", "start": 931, "startIntronDirection": "+", "startIntronOffset": 7313 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.931+7314C>T" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:n.931+7314C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.1771C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "T", "end": 1662, "referenceAllele": "C", "start": 1661 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Gln423Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "T", "end": 1546, "referenceAllele": "C", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Gln423Ter", "hgvsWellDefined": "ENSP00000322478.6:p.Gln423_His1053delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Gln423Ter", "hgvsWellDefined": "ENSP00000356774.4:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Gln423Ter", "hgvsWellDefined": "ENSP00000388650.2:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:p.Gln423Ter", "hgvsWellDefined": "ENSP00000432167.1:p.Gln423_Tyr609delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnGluAsnGluAspValPheValLeuIleSerProThrMetGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783426", "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Gln423Ter", "hgvsWellDefined": "NP_001128302.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA339612", "coordinates": [ { "allele": "T", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Gln423Ter", "hgvsWellDefined": "NP_001128303.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825785103", "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Gln423Ter", "hgvsWellDefined": "NP_001128304.1:p.Gln423_His1053delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA352247", "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Gln423Ter", "hgvsWellDefined": "NP_060121.3:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534212.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534213.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534214.1:p.Gln423_Leu1186delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534215.1:p.Gln423_Leu1186delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534216.1:p.Gln423_Leu1179delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534217.1:p.Gln423_Ser1168delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534218.1:p.Gln423_Arg1064delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "T", "end": 1560, "referenceAllele": "C", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.1560C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545468", "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "C", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Gln423Ter", "hgvsWellDefined": "NP_001337432.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546335", "coordinates": [ { "allele": "T", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Gln423Ter", "hgvsWellDefined": "NP_001337433.1:p.Gln423_Ser1168delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "T", "end": 1827, "referenceAllele": "C", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534212.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Gln423Ter", "hgvsWellDefined": "XP_011534213.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Gln423Ter", "hgvsWellDefined": "XP_016866467.1:p.Gln423_Leu1186delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Gln423Ter", "hgvsWellDefined": "XP_016866468.1:p.Gln423_Leu1186delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Gln423Ter", "hgvsWellDefined": "XP_016866469.1:p.Gln423_Leu1179delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "T", "end": 1603, "referenceAllele": "C", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Gln405Ter", "hgvsWellDefined": "XP_016866470.1:p.Gln405_Glu1178delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Gln423Ter", "hgvsWellDefined": "XP_016866473.1:p.Gln423_His1053delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Gln405Ter", "hgvsWellDefined": "XP_024302247.1:p.Gln405_Glu1178delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580141" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446480.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_024302248.1:p.Gln423Ter", "hgvsWellDefined": "XP_024302248.1:p.Gln423_Arg1064delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580142" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743479.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592684" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743480.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592685" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743481.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592686" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 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"http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "T", "end": 1657, "referenceAllele": "C", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.1657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA339612", "coordinates": [ { "allele": "T", "end": 1626, "referenceAllele": "C", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Gln423Ter", "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.1267C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.1267C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Gln423Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Gln423Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783426", "coordinates": [ { "allele": "T", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Gln423Ter", "hgvsWellDefined": "NP_001128302.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825785103", "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Gln423Ter", "hgvsWellDefined": "NP_001128304.1:p.Gln423_His1053delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545468", "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Gln423Ter", "hgvsWellDefined": "NP_001337432.1:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546335", "coordinates": [ { "allele": "T", "end": 1626, "referenceAllele": "C", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Gln423Ter", "hgvsWellDefined": "NP_001337433.1:p.Gln423_Ser1168delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA352247", "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Gln423Ter", "hgvsWellDefined": "NP_060121.3:p.Gln423_Glu1196delinsIleValPheAsnGluAsnPheProTyrLeuLeuArgGlySerAspGluSerProLysValIleLeuPhePheGluIleLeuAspPheLeuSerValAspGluIleLysAsnAsnSerGluValGlnAsnGlnGluCysGlyPheArgLysIleAlaTrpAlaPheLeuLysLeuLeuGlyAlaAsnGlyAsnAlaAsnIleAsnSerLysLeuArgLeuGlnLeuTyrTyrProProThrLysProArgSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }