{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277726", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214235[alleleid]", "alleleId": 214235, "preferredName": "NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217525", "RCV": [ "RCV000201604", "RCV000255574", "RCV001002863", "RCV001387494" ], "variationId": 217525 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-135754219-G-A", "id": "6-135754219-G-A", "variant": "6:135754219 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135754219G>A?assembly=hg19", "id": "chr6:g.135754219G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135433081G>A?assembly=hg38", "id": "chr6:g.135433081G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/372659908", "rs": 372659908 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135754219-G-A?dataset=gnomad_r2_1", "id": "6-135754219-G-A", "variant": "6:135754219 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135433081-G-A?dataset=gnomad_r3", "id": "6-135433081-G-A", "variant": "6:135433081 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135433081-G-A?dataset=gnomad_r4", "id": "6-135433081-G-A", "variant": "6:135433081 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135433081, "referenceAllele": "G", "start": 135433080 } ], "hgvs": [ "NC_000006.12:g.135433081G>A", "CM000668.2:g.135433081G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135754219, "referenceAllele": "G", "start": 135754218 } ], "hgvs": [ "NC_000006.11:g.135754219G>A", "CM000668.1:g.135754219G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135795912, "referenceAllele": "G", "start": 135795911 } ], "hgvs": [ "NC_000006.10:g.135795912G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 69685, "referenceAllele": "C", "start": 69684 } ], "hgvs": [ "NG_008643.1:g.69685C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "T", "end": 69685, "referenceAllele": "C", "start": 69684 } ], "hgvs": [ "NG_008643.2:g.69685C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Arg738Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.2212C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.2212C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Arg738Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Arg738Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.7:c.1264C>T" ], "proteinEffect": { "hgvs": "ENSP00000356773.3:p.Arg422Ter", "hgvsWellDefined": "ENSP00000356773.3:p.Arg422_Gly845delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValAsnValPheGluHisThrTyrTyrIleCysThrLeuIlePheThrLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750079" }, { "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.2397C>T" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:n.2397C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779065" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679450.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000506494.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000506494.1:p.Arg738_Glu1109delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "T", "end": 2792, "referenceAllele": "C", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*2240C>T" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*2240C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "T", "end": 2574, "referenceAllele": "C", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000506261.1:p.Arg738_Ala1064delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505364.1:p.Arg738_Ala1064delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505697.1:p.Arg738_Lys1144delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679711.1:c.384C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779338" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000504890.1:p.Arg738_Lys1144delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "C", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679890.1:n.703C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779512" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505502.1:p.Arg738_Ser1168delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505663.1:p.Arg738_Leu1179delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "T", "end": 2221, "endIntronDirection": "-", "endIntronOffset": 1766, "referenceAllele": "C", "start": 2221, "startIntronDirection": "-", "startIntronOffset": 1767 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.2222-1767C>T" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:n.2222-1767C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000506009.1:p.Arg738_Asn1068delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrTrpLeuPheMetThrThrGlnArgIleAspGlnMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.2397C>T" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:n.2397C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "T", "end": 4955, "referenceAllele": "C", "start": 4954 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.4955C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505297.1:p.Arg738_Lys1014delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.2397C>T" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:n.2397C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505809.1:p.Arg738_Ala1064delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "T", "end": 2742, "referenceAllele": "C", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505398.1:p.Arg738_Ser808delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysIleSerSerLysGluValCysArgSerSerLysLeuSerGlyGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "T", "end": 5162, "referenceAllele": "C", "start": 5161 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505121.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "T", "end": 1668, "referenceAllele": "C", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681057.1:n.1668C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780670" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.2059C>T" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Arg687Ter", "hgvsWellDefined": "ENSP00000505093.1:p.Arg687_Glu1145delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "T", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.2729C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "T", "end": 2698, "referenceAllele": "C", "start": 2697 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505666.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "T", "end": 2914, "referenceAllele": "C", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000506604.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.*999C>T" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:n.*999C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505884.1:p.Arg738_Phe838delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgMetArgThrSerSerHisValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000506005.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000504895.1:p.Arg738_Leu1186delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "T", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505266.1:p.Arg738_Lys1014delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "T", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000506505.1:p.Arg738_Gln1154delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysAlaGlySerArgProValThrGlnValGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000505608.1:p.Arg738_Lys1014delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "T", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Arg738Ter", "hgvsWellDefined": "ENSP00000504965.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "T", "end": 1703, "referenceAllele": "C", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.1703C>T" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:n.1703C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "C", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.2680C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "T", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Arg738Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Arg738Ter", "hgvsWellDefined": "ENSP00000322478.6:p.Arg738_His1053delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.6:c.711C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266583" }, { "coordinates": [ { "allele": "T", "end": 2429, "referenceAllele": "C", "start": 2428 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Arg738Ter", "hgvsWellDefined": "ENSP00000356774.4:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Arg738Ter", "hgvsWellDefined": "ENSP00000388650.2:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000475846.6:c.404C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317041" }, { "coordinates": [ { "allele": "T", "end": 2519, "referenceAllele": "C", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.*415C>T" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:n.*415C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783658", "coordinates": [ { "allele": "T", "end": 2449, "referenceAllele": "C", "start": 2448 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Arg738Ter", "hgvsWellDefined": "NP_001128302.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA277727", "coordinates": [ { "allele": "T", "end": 2596, "referenceAllele": "C", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Arg738Ter", "hgvsWellDefined": "NP_001128303.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825785336", "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Arg738Ter", "hgvsWellDefined": "NP_001128304.1:p.Arg738_His1053delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA645478991", "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Arg738Ter", "hgvsWellDefined": "NP_060121.3:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "T", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534212.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "T", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534213.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534214.1:p.Arg738_Leu1186delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534215.1:p.Arg738_Leu1186delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534216.1:p.Arg738_Leu1179delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534217.1:p.Arg738_Ser1168delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534218.1:p.Arg738_Arg1064delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.2505C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545702", "coordinates": [ { "allele": "T", "end": 2705, "referenceAllele": "C", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Arg738Ter", "hgvsWellDefined": "NP_001337432.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546569", "coordinates": [ { "allele": "T", "end": 2596, "referenceAllele": "C", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Arg738Ter", "hgvsWellDefined": "NP_001337433.1:p.Arg738_Ser1168delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "T", "end": 2772, "referenceAllele": "C", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534212.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "T", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Arg738Ter", "hgvsWellDefined": "XP_011534213.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Arg738Ter", "hgvsWellDefined": "XP_016866467.1:p.Arg738_Leu1186delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Arg738Ter", "hgvsWellDefined": "XP_016866468.1:p.Arg738_Leu1186delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Arg738Ter", "hgvsWellDefined": "XP_016866469.1:p.Arg738_Leu1179delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "T", "end": 2548, "referenceAllele": "C", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.2158C>T" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Arg720Ter", "hgvsWellDefined": "XP_016866470.1:p.Arg720_Glu1178delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Arg738Ter", "hgvsWellDefined": "XP_016866473.1:p.Arg738_His1053delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "T", "end": 2452, "referenceAllele": "C", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.2158C>T" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Arg720Ter", "hgvsWellDefined": "XP_024302247.1:p.Arg720_Glu1178delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580141" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446480.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_024302248.1:p.Arg738Ter", "hgvsWellDefined": "XP_024302248.1:p.Arg738_Arg1064delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580142" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743479.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592684" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743480.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592685" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743481.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592686" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743485.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592690" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743486.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592691" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743487.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592692" }, { "coordinates": [ { "allele": "T", "end": 2844, "referenceAllele": "C", "start": 2843 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743488.1:n.2844C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "T", "end": 2602, "referenceAllele": "C", "start": 2601 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.2602C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA277727", "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Arg738Ter", "hgvsWellDefined": "NP_001128303.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.2212C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.2212C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Arg738Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Arg738Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783658", "coordinates": [ { "allele": "T", "end": 2424, "referenceAllele": "C", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Arg738Ter", "hgvsWellDefined": "NP_001128302.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825785336", "coordinates": [ { "allele": "T", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Arg738Ter", "hgvsWellDefined": "NP_001128304.1:p.Arg738_His1053delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545702", "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "C", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Arg738Ter", "hgvsWellDefined": "NP_001337432.1:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546569", "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Arg738Ter", "hgvsWellDefined": "NP_001337433.1:p.Arg738_Ser1168delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA645478991", "coordinates": [ { "allele": "T", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Arg738Ter", "hgvsWellDefined": "NP_060121.3:p.Arg738_Glu1196delinsGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }