{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3201735", "communityStandardTitle": [ "NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=944361[alleleid]", "alleleId": 944361, "preferredName": "NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/953233", "RCV": [ "RCV001225492", "RCV001780155" ], "variationId": 953233 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-13721281-C-T", "id": "5-13721281-C-T", "variant": "5:13721281 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13721281C>T?assembly=hg19", "id": "chr5:g.13721281C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13721172C>T?assembly=hg38", "id": "chr5:g.13721172C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/760104757", "rs": 760104757 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13721281-C-T?dataset=gnomad_r2_1", "id": "5-13721281-C-T", "variant": "5:13721281 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13721172-C-T?dataset=gnomad_r3", "id": "5-13721172-C-T", "variant": "5:13721172 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13721172-C-T?dataset=gnomad_r4", "id": "5-13721172-C-T", "variant": "5:13721172 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13721172, "referenceAllele": "C", "start": 13721171 } ], "hgvs": [ "NC_000005.10:g.13721172C>T", "CM000667.2:g.13721172C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13721281, "referenceAllele": "C", "start": 13721280 } ], "hgvs": [ "NC_000005.9:g.13721281C>T", "CM000667.1:g.13721281C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13774281, "referenceAllele": "C", "start": 13774280 } ], "hgvs": [ "NC_000005.8:g.13774281C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 228309, "referenceAllele": "G", "start": 228308 } ], "hgvs": [ "NG_013081.1:g.228309G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002704" }, { "coordinates": [ { "allele": "A", "end": 228309, "referenceAllele": "G", "start": 228308 } ], "hgvs": [ "NG_013081.2:g.228309G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673632" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 12357, "referenceAllele": "G", "start": 12356 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.5:c.12107G>A" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Trp4036Ter", "hgvsWellDefined": "ENSP00000265104.4:p.Trp4036_Lys4624delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.12107G>A" }, "RefSeq": { "hgvs": "NM_001369.3:c.12107G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Trp4036Ter" }, "RefSeq": { "hgvs": "NP_001360.1:p.Trp4036Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 12221, "referenceAllele": "G", "start": 12220 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000681290.1:c.12062G>A" ], "proteinEffect": { "hgvs": "ENSP00000505288.1:p.Trp4021Ter", "hgvsWellDefined": "ENSP00000505288.1:p.Trp4021_Lys4609delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780901" }, { "coordinates": [ { "allele": "A", "end": 12212, "referenceAllele": "G", "start": 12211 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.4:c.12107G>A" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Trp4036Ter", "hgvsWellDefined": "ENSP00000265104.4:p.Trp4036_Lys4624delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251673" }, { "@id": "http://reg.genome.network/allele/PA1139703748", "coordinates": [ { "allele": "A", "end": 12149, "referenceAllele": "G", "start": 12148 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.2:c.12107G>A" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Trp4036Ter", "hgvsWellDefined": "NP_001360.1:p.Trp4036_Lys4624delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026756" }, { "coordinates": [ { "allele": "A", "end": 12162, "referenceAllele": "G", "start": 12161 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.2:c.12062G>A" ], "proteinEffect": { "hgvs": "XP_005248319.1:p.Trp4021Ter", "hgvsWellDefined": "XP_005248319.1:p.Trp4021_Lys4609delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058370" }, { "coordinates": [ { "allele": "A", "end": 12232, "referenceAllele": "G", "start": 12231 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.3:c.12215G>A" ], "proteinEffect": { "hgvs": "XP_005248319.2:p.Trp4072Ter", "hgvsWellDefined": "XP_005248319.2:p.Trp4072_Lys4660delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533031" }, { "coordinates": [ { "allele": "A", "end": 12232, "referenceAllele": "G", "start": 12231 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009177.1:c.12215G>A" ], "proteinEffect": { "hgvs": "XP_016864666.1:p.Trp4072Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS563535" }, { "coordinates": [ { "allele": "A", "end": 13035, "referenceAllele": "G", "start": 13034 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009178.1:c.11120G>A" ], "proteinEffect": { "hgvs": "XP_016864667.1:p.Trp3707Ter", "hgvsWellDefined": "XP_016864667.1:p.Trp3707_Lys4295delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563536" }, { "coordinates": [ { "allele": "A", "end": 11258, "referenceAllele": "G", "start": 11257 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009179.2:c.11120G>A" ], "proteinEffect": { "hgvs": "XP_016864668.1:p.Trp3707Ter", "hgvsWellDefined": "XP_016864668.1:p.Trp3707_Lys4295delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563537" }, { "coordinates": [ { "allele": "A", "end": 12232, "referenceAllele": "G", "start": 12231 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009180.1:c.12215G>A" ], "proteinEffect": { "hgvs": "XP_016864669.1:p.Trp4072Ter", "hgvsWellDefined": "XP_016864669.1:p.Trp4072_Tyr4272delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563538" }, { "coordinates": [ { "allele": "A", "end": 7528, "referenceAllele": "G", "start": 7527 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009185.1:c.7304G>A" ], "proteinEffect": { "hgvs": "XP_016864674.1:p.Trp2435Ter", "hgvsWellDefined": "XP_016864674.1:p.Trp2435_Lys3023delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563543" }, { "coordinates": [ { "allele": "A", "end": 6944, "referenceAllele": "G", "start": 6943 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009186.1:c.6857G>A" ], "proteinEffect": { "hgvs": "XP_016864675.1:p.Trp2286Ter", "hgvsWellDefined": "XP_016864675.1:p.Trp2286_Lys2874delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563544" }, { "coordinates": [ { "allele": "A", "end": 7760, "referenceAllele": "G", "start": 7759 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009188.1:c.6194G>A" ], "proteinEffect": { "hgvs": "XP_016864677.1:p.Trp2065Ter", "hgvsWellDefined": "XP_016864677.1:p.Trp2065_Lys2653delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563546" }, { "coordinates": [ { "allele": "A", "end": 14905, "referenceAllele": "G", "start": 14904 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454388.1:c.11120G>A" ], "proteinEffect": { "hgvs": "XP_024310156.1:p.Trp3707Ter", "hgvsWellDefined": "XP_024310156.1:p.Trp3707_Lys4295delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587750" }, { "coordinates": [ { "allele": "A", "end": 13547, "referenceAllele": "G", "start": 13546 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454389.1:c.10709G>A" ], "proteinEffect": { "hgvs": "XP_024310157.1:p.Trp3570Ter", "hgvsWellDefined": "XP_024310157.1:p.Trp3570_Lys4158delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587751" }, { "@id": "http://reg.genome.network/allele/PA1139703748", "coordinates": [ { "allele": "A", "end": 12357, "referenceAllele": "G", "start": 12356 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.3:c.12107G>A" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Trp4036Ter", "hgvsWellDefined": "NP_001360.1:p.Trp4036_Lys4624delinsGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721135", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.12107G>A" }, "RefSeq": { "hgvs": "NM_001369.3:c.12107G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Trp4036Ter" }, "RefSeq": { "hgvs": "NP_001360.1:p.Trp4036Ter" } } } } ], "type": "nucleotide" }