{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277801", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214251[alleleid]", "alleleId": 214251, "preferredName": "NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217534", "RCV": [ "RCV000201739", "RCV000702666" ], "variationId": 217534 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-135769538-G-A", "id": "6-135769538-G-A", "variant": "6:135769538 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135769538G>A?assembly=hg19", "id": "chr6:g.135769538G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135448400G>A?assembly=hg38", "id": "chr6:g.135448400G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371637724", "rs": 371637724 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135769538-G-A?dataset=gnomad_r2_1", "id": "6-135769538-G-A", "variant": "6:135769538 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135448400-G-A?dataset=gnomad_r3", "id": "6-135448400-G-A", "variant": "6:135448400 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135448400-G-A?dataset=gnomad_r4", "id": "6-135448400-G-A", "variant": "6:135448400 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135448400, "referenceAllele": "G", "start": 135448399 } ], "hgvs": [ "NC_000006.12:g.135448400G>A", "CM000668.2:g.135448400G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135769538, "referenceAllele": "G", "start": 135769537 } ], "hgvs": [ "NC_000006.11:g.135769538G>A", "CM000668.1:g.135769538G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135811231, "referenceAllele": "G", "start": 135811230 } ], "hgvs": [ "NC_000006.10:g.135811231G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 54366, "referenceAllele": "C", "start": 54365 } ], "hgvs": [ "NG_008643.1:g.54366C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "T", "end": 54366, "referenceAllele": "C", "start": 54365 } ], "hgvs": [ "NG_008643.2:g.54366C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Arg506Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.1516C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.1516C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Arg506Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Arg506Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "C", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.7:c.568C>T" ], "proteinEffect": { "hgvs": "ENSP00000356773.3:p.Arg190Ter", "hgvsWellDefined": "ENSP00000356773.3:p.Arg190_Gly845delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValAsnValPheGluHisThrTyrTyrIleCysThrLeuIlePheThrLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750079" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.1701C>T" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:n.1701C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779065" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679450.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000506494.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000506494.1:p.Arg506_Glu1109delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*1544C>T" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*1544C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "T", "end": 1878, "referenceAllele": "C", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000506261.1:p.Arg506_Ala1064delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505364.1:p.Arg506_Ala1064delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505697.1:p.Arg506_Lys1144delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000504890.1:p.Arg506_Lys1144delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505502.1:p.Arg506_Ser1168delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505663.1:p.Arg506_Leu1179delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.1701C>T" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:n.1701C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000506009.1:p.Arg506_Asn1068delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrTrpLeuPheMetThrThrGlnArgIleAspGlnMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.1701C>T" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:n.1701C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "T", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.4259C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505297.1:p.Arg506_Lys1014delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.1701C>T" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:n.1701C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505809.1:p.Arg506_Ala1064delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrAlaThrHisMetProGlnThrAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "T", "end": 2046, "referenceAllele": "C", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505398.1:p.Arg506_Ser808delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysIleSerSerLysGluValCysArgSerSerLysLeuSerGlyGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "T", "end": 4466, "referenceAllele": "C", "start": 4465 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505121.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681057.1:n.972C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780670" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505093.1:p.Arg506_Glu1145delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "T", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.2033C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "T", "end": 2002, "referenceAllele": "C", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505666.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000506604.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "T", "end": 1493, "referenceAllele": "C", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.*303C>T" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:n.*303C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505884.1:p.Arg506_Phe838delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgMetArgThrSerSerHisValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000506005.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000504895.1:p.Arg506_Leu1186delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "T", "end": 1729, "referenceAllele": "C", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505266.1:p.Arg506_Lys1014delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000506505.1:p.Arg506_Gln1154delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysAlaGlySerArgProValThrGlnValGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000505608.1:p.Arg506_Lys1014delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrLeuGluSerHisSerValAlaGlnAlaGlyValGlnTrpArgAsnLeuGlySerLeuGlnProProProProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "T", "end": 2019, "referenceAllele": "C", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000504965.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.1007C>T" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:n.1007C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.2020C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "T", "end": 1911, "referenceAllele": "C", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Arg506Ter", "hgvsWellDefined": "ENSP00000265602.6:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "T", "end": 1795, "referenceAllele": "C", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Arg506Ter", "hgvsWellDefined": "ENSP00000322478.6:p.Arg506_His1053delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "T", "end": 15, "referenceAllele": "C", "start": 14 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.6:c.15C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266583" }, { "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "C", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Arg506Ter", "hgvsWellDefined": "ENSP00000356774.4:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Arg506Ter", "hgvsWellDefined": "ENSP00000388650.2:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000432167.1:p.Arg506_Tyr609delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnGluAsnGluAspValPheValLeuIleSerProThrMetGluGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783493", "coordinates": [ { "allele": "T", "end": 1753, "referenceAllele": "C", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Arg506Ter", "hgvsWellDefined": "NP_001128302.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA277802", "coordinates": [ { "allele": "T", "end": 1900, "referenceAllele": "C", "start": 1899 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Arg506Ter", "hgvsWellDefined": "NP_001128303.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825785170", "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Arg506Ter", "hgvsWellDefined": "NP_001128304.1:p.Arg506_His1053delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA891853578", "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Arg506Ter", "hgvsWellDefined": "NP_060121.3:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "T", "end": 2034, "referenceAllele": "C", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534212.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534213.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534214.1:p.Arg506_Leu1186delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534215.1:p.Arg506_Leu1186delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534216.1:p.Arg506_Leu1179delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534217.1:p.Arg506_Ser1168delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534218.1:p.Arg506_Arg1064delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrHisCysIleLysAsnCysLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "T", "end": 1809, "referenceAllele": "C", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545534", "coordinates": [ { "allele": "T", "end": 2009, "referenceAllele": "C", "start": 2008 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Arg506Ter", "hgvsWellDefined": "NP_001337432.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546402", "coordinates": [ { "allele": "T", "end": 1900, "referenceAllele": "C", "start": 1899 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Arg506Ter", "hgvsWellDefined": "NP_001337433.1:p.Arg506_Ser1168delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "T", "end": 2076, "referenceAllele": "C", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534212.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Arg506Ter", "hgvsWellDefined": "XP_011534213.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Arg506Ter", "hgvsWellDefined": "XP_016866467.1:p.Arg506_Leu1186delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Arg506Ter", "hgvsWellDefined": "XP_016866468.1:p.Arg506_Leu1186delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysValGlyAspAsnThrGlyGlyGlnArgSerTrpMetLeuLeuSerIleLeuGluCysArgGlyGlnLeuProSerThrLysAsnSerLeuAlaLysAsnValAsnArgMetGluLeuArgAlaValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Arg506Ter", "hgvsWellDefined": "XP_016866469.1:p.Arg506_Leu1179delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrGlnArgGluLeuAsnGluLysAlaGlyGlyIleCysIleAlaArgGluGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.1462C>T" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Arg488Ter", "hgvsWellDefined": "XP_016866470.1:p.Arg488_Glu1178delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Arg506Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.1462C>T" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Arg488Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580142" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743479.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592684" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743480.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592685" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743481.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592686" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 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"http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.1906C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA277802", "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Arg506Ter", "hgvsWellDefined": "NP_001128303.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.1516C>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.1516C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Arg506Ter" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Arg506Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783493", "coordinates": [ { "allele": "T", "end": 1728, "referenceAllele": "C", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Arg506Ter", "hgvsWellDefined": "NP_001128302.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825785170", "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Arg506Ter", "hgvsWellDefined": "NP_001128304.1:p.Arg506_His1053delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrAspSerHisPheAlaGluPheAsnThrCysIleLeuTrpTrpLysLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545534", "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Arg506Ter", "hgvsWellDefined": "NP_001337432.1:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546402", "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Arg506Ter", "hgvsWellDefined": "NP_001337433.1:p.Arg506_Ser1168delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisLysGluLeuLysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA891853578", "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Arg506Ter", "hgvsWellDefined": "NP_060121.3:p.Arg506_Glu1196delinsSerProLeuSerValValGluAlaPheGluTrpTrpSerLysCysProArgAsnHisTyrProSerThrLeuTyrValThrValArgGlyLeuLysValProAspCysIleLysProSerTyrArgSerMetMetAlaLeuGlnGluGluLysGlyLysProValHisCysGluArgHisHisGluSerSerSerValAspThrGluProGlyLeuGluGluSerLysGluValIleLysTrpLysArgLeuProGlyGlnAlaCysArgIleProAsnLysHisLeuPheSerLeuAsnAlaGlyGluArgGlyCysPheCysLeuAspPheSerHisAsnGlyArgIleLeuAlaAlaAlaCysAlaSerArgAspGlyTyrProIleIleLeuTyrGluIleProSerGlyArgPheMetArgGluLeuCysGlyHisLeuAsnIleIleTyrAspLeuSerTrpSerLysAspAspHisTyrIleLeuThrSerSerSerAspGlyThrAlaArgIleTrpLysAsnGluIleAsnAsnThrAsnThrPheArgValLeuProHisProSerPheValTyrThrAlaLysPheHisProAlaValArgGluLeuValValThrGlyCysTyrAspSerMetIleArgIleTrpLysValGluMetArgGluAspSerAlaIleLeuValArgGlnPheAspValHisLysSerPheIleAsnSerLeuCysPheAspThrGluGlyHisHisMetTyrSerGlyAspCysThrGlyValIleValValTrpAsnThrTyrValLysIleAsnAspLeuGluHisSerValHisHisTrpThrIleAsnLysGluIleLysGluThrGluPheLysGlyIleProIleSerTyrLeuGluIleHisProAsnGlyLysArgLeuLeuIleHisThrLysAspSerThrLeuArgIleMetAspLeuArgIleLeuValAlaArgLysPheValGlyAlaAlaAsnTyrArgGluLysIleHisSerThrLeuThrProCysGlyThrPheLeuPheAlaGlySerGluAspGlyIleValTyrValTrpAsnProGluThrGlyGluGlnValAlaMetTyrSerAspLeuProPheLysSerProIleArgAspIleSerTyrHisProPheGluAsnMetValAlaPheCysAlaPheGlyGlnAsnGluProIleLeuLeuTyrIleTyrAspPheHisValAlaGlnGlnGluAlaGluMetPheLysArgTyrAsnGlyThrPheProLeuProGlyIleHisGlnSerGlnAspAlaLeuCysThrCysProLysLeuProHisGlnGlySerPheGlnIleAspGluPheValHisThrGluSerSerSerThrLysMetGlnLeuValLysGlnArgLeuGluThrValThrGluValIleArgSerCysAlaAlaLysValAsnLysAsnLeuSerPheThrSerProProAlaValSerSerGlnGlnSerLysLeuLysGlnSerAsnMetLeuThrAlaGlnGluIleLeuHisGlnPheGlyPheThrGlnThrGlyIleIleSerIleGluArgLysProCysAsnHisGlnValAspThrAlaProThrValValAlaLeuTyrAspTyrThrAlaAsnArgSerAspGluLeuThrIleHisArgGlyAspIleIleArgValPhePheLysAspAsnGluAspTrpTrpTyrGlySerIleGlyLysGlyGlnGluGlyTyrPheProAlaAsnHisValAlaSerGluThrLeuTyrGlnGluLeuProProGluIleLysGluArgSerProProLeuSerProGluGluLysThrLysIleGluLysSerProAlaProGlnLysGlnSerIleAsnLysAsnLysSerGlnAspPheArgLeuGlySerGluSerMetThrHisSerGluMetArgLysGluGlnSerHisGluAspGlnGlyHisIleMetAspThrArgMetArgLysAsnLysGlnAlaGlyArgLysValThrLeuIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }