{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397925948", "communityStandardTitle": [ "NM_020877.5(DNAH2):c.11644C>T (p.Arg3882Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415904[alleleid]", "alleleId": 2415904, "preferredName": "NM_020877.5(DNAH2):c.11644C>T (p.Arg3882Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2442191", "RCV": [ "RCV003148522" ], "variationId": 2442191 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7727604C>T?assembly=hg19", "id": "chr17:g.7727604C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7824286C>T?assembly=hg38", "id": "chr17:g.7824286C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1486243737", "rs": 1486243737 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-7727604-C-T?dataset=gnomad_r2_1", "id": "17-7727604-C-T", "variant": "17:7727604 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-7824286-C-T?dataset=gnomad_r3", "id": "17-7824286-C-T", "variant": "17:7824286 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-7824286-C-T?dataset=gnomad_r4", "id": "17-7824286-C-T", "variant": "17:7824286 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7824286, "referenceAllele": "C", "start": 7824285 } ], "hgvs": [ "NC_000017.11:g.7824286C>T", "CM000679.2:g.7824286C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7727604, "referenceAllele": "C", "start": 7727603 } ], "hgvs": [ "NC_000017.10:g.7727604C>T", "CM000679.1:g.7727604C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7668329, "referenceAllele": "C", "start": 7668328 } ], "hgvs": [ "NC_000017.9:g.7668329C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 12714, "referenceAllele": "C", "start": 12713 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "ENST00000572933.6:c.11644C>T" ], "proteinEffect": { "hgvs": "ENSP00000458355.1:p.Arg3882Ter", "hgvsWellDefined": "ENSP00000458355.1:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000572933.6:c.11644C>T" }, "RefSeq": { "hgvs": "NM_020877.5:c.11644C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000458355.1:p.Arg3882Ter" }, "RefSeq": { "hgvs": "NP_065928.2:p.Arg3882Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 11658, "referenceAllele": "C", "start": 11657 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "ENST00000389173.6:c.11644C>T" ], "proteinEffect": { "hgvs": "ENSP00000373825.2:p.Arg3882Ter", "hgvsWellDefined": "ENSP00000373825.2:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274166" }, { "coordinates": [ { "allele": "T", "end": 13104, "referenceAllele": "C", "start": 13103 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "ENST00000572933.5:c.11644C>T" ], "proteinEffect": { "hgvs": "ENSP00000458355.1:p.Arg3882Ter", "hgvsWellDefined": "ENSP00000458355.1:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383105" }, { "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "ENST00000575105.1:c.2491C>T" ], "proteinEffect": { "hgvs": "ENSP00000461726.1:p.Arg831Ter", "hgvsWellDefined": "ENSP00000461726.1:p.Arg831_Leu1159del" }, "referenceSequence": "http://reg.genome.network/refseq/RS383974" }, { "@id": "http://reg.genome.network/allele/PA2829929925", "coordinates": [ { "allele": "T", "end": 13104, "referenceAllele": "C", "start": 13103 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "NM_020877.3:c.11644C>T" ], "proteinEffect": { "hgvs": "NP_065928.2:p.Arg3882Ter", "hgvsWellDefined": "NP_065928.2:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036660" }, { "coordinates": [ { "allele": "T", "end": 11972, "referenceAllele": "C", "start": 11971 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523663.1:c.11890C>T" ], "proteinEffect": { "hgvs": "XP_011521965.1:p.Arg3964Ter", "hgvsWellDefined": "XP_011521965.1:p.Arg3964_Ser4509delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090796" }, { "coordinates": [ { "allele": "T", "end": 12127, "referenceAllele": "C", "start": 12126 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523664.1:c.11890C>T" ], "proteinEffect": { "hgvs": "XP_011521966.1:p.Arg3964Ter", "hgvsWellDefined": "XP_011521966.1:p.Arg3964_Ser4509delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090797" }, { "coordinates": [ { "allele": "T", "end": 11804, "referenceAllele": "C", "start": 11803 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523665.1:c.11722C>T" ], "proteinEffect": { "hgvs": "XP_011521967.1:p.Arg3908Ter", "hgvsWellDefined": "XP_011521967.1:p.Arg3908_Ser4453delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090798" }, { "coordinates": [ { "allele": "T", "end": 11783, "referenceAllele": "C", "start": 11782 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523666.1:c.11701C>T" ], "proteinEffect": { "hgvs": "XP_011521968.1:p.Arg3901Ter", "hgvsWellDefined": "XP_011521968.1:p.Arg3901_Ser4446delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090799" }, { "coordinates": [ { "allele": "T", "end": 11881, "referenceAllele": "C", "start": 11880 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523667.1:c.11644C>T" ], "proteinEffect": { "hgvs": "XP_011521969.1:p.Arg3882Ter", "hgvsWellDefined": "XP_011521969.1:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090800" }, { "coordinates": [ { "allele": "T", "end": 10355, "referenceAllele": "C", "start": 10354 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523668.1:c.10282C>T" ], "proteinEffect": { "hgvs": "XP_011521970.1:p.Arg3428Ter", "hgvsWellDefined": "XP_011521970.1:p.Arg3428_Ser3973delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090801" }, { "coordinates": [ { "allele": "T", "end": 10008, "referenceAllele": "C", "start": 10007 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523669.1:c.9886C>T" ], "proteinEffect": { "hgvs": "XP_011521971.1:p.Arg3296Ter", "hgvsWellDefined": "XP_011521971.1:p.Arg3296_Ser3841delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090802" }, { "coordinates": [ { "allele": "T", "end": 11875, "referenceAllele": "C", "start": 11874 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_011523667.2:c.11644C>T" ], "proteinEffect": { "hgvs": "XP_011521969.1:p.Arg3882Ter", "hgvsWellDefined": "XP_011521969.1:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547117" }, { "coordinates": [ { "allele": "T", "end": 11972, "referenceAllele": "C", "start": 11971 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450604.1:c.11890C>T" ], "proteinEffect": { "hgvs": "XP_024306372.1:p.Arg3964Ter", "hgvsWellDefined": "XP_024306372.1:p.Arg3964_His4531delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584138" }, { "coordinates": [ { "allele": "T", "end": 12121, "referenceAllele": "C", "start": 12120 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450605.1:c.11890C>T" ], "proteinEffect": { "hgvs": "XP_024306373.1:p.Arg3964Ter", "hgvsWellDefined": "XP_024306373.1:p.Arg3964_His4531delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584139" }, { "coordinates": [ { "allele": "T", "end": 11783, "referenceAllele": "C", "start": 11782 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450606.1:c.11701C>T" ], "proteinEffect": { "hgvs": "XP_024306374.1:p.Arg3901Ter", "hgvsWellDefined": "XP_024306374.1:p.Arg3901_His4468delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584140" }, { "coordinates": [ { "allele": "T", "end": 11726, "referenceAllele": "C", "start": 11725 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450607.1:c.11644C>T" ], "proteinEffect": { "hgvs": "XP_024306375.1:p.Arg3882Ter", "hgvsWellDefined": "XP_024306375.1:p.Arg3882_His4449delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584141" }, { "coordinates": [ { "allele": "T", "end": 10354, "referenceAllele": "C", "start": 10353 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450608.1:c.10282C>T" ], "proteinEffect": { "hgvs": "XP_024306376.1:p.Arg3428Ter", "hgvsWellDefined": "XP_024306376.1:p.Arg3428_His3995delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584142" }, { "coordinates": [ { "allele": "T", "end": 10057, "referenceAllele": "C", "start": 10056 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450609.1:c.9895C>T" ], "proteinEffect": { "hgvs": "XP_024306377.1:p.Arg3299Ter", "hgvsWellDefined": "XP_024306377.1:p.Arg3299_His3866delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584143" }, { "coordinates": [ { "allele": "T", "end": 10040, "referenceAllele": "C", "start": 10039 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "XM_024450610.1:c.9886C>T" ], "proteinEffect": { "hgvs": "XP_024306378.1:p.Arg3296Ter", "hgvsWellDefined": "XP_024306378.1:p.Arg3296_His3863delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysValGlyAlaSerCysAlaTrpGlySerGluGlnLysArgValLeuGluIleIleGlyArgLysGlyArgArgGluGlyAlaGlyGlnGlyArgTrpGlnLeuLysSerSerPheSerGlnThrCysSerHisPheSerProGlyTrpCysLeuGlyProGlyProValProGlyArgCysTrpLeuGlyProGluGluLeuLeuLeuGlyGlyGlyArgAlaHisAlaAlaCysLeuProHisAlaHisAspProLeuProAlaCysArgGluProGlnGluGluArgGlnGlyHisValLeuLeuProLeuLeuLeuLeuSerGlnProGlyArgGlnLeuArgProSerLeuLeuCysHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584144" }, { "@id": "http://reg.genome.network/allele/PA2829929925", "coordinates": [ { "allele": "T", "end": 12714, "referenceAllele": "C", "start": 12713 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "NM_020877.4:c.11644C>T" ], "proteinEffect": { "hgvs": "NP_065928.2:p.Arg3882Ter", "hgvsWellDefined": "NP_065928.2:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698317" }, { "@id": "http://reg.genome.network/allele/PA2829929925", "coordinates": [ { "allele": "T", "end": 12714, "referenceAllele": "C", "start": 12713 } ], "gene": "http://reg.genome.network/gene/GN002948", "geneNCBI_id": 146754, "geneSymbol": "DNAH2", "hgvs": [ "NM_020877.5:c.11644C>T" ], "proteinEffect": { "hgvs": "NP_065928.2:p.Arg3882Ter", "hgvsWellDefined": "NP_065928.2:p.Arg3882_Ser4427delinsGluGlyValThrGlnGlyHisTrpValPheLeuAlaAsnCysHisLeuSerLeuSerTrpMetProAsnLeuAspLysLeuValGluGlnLeuGlnValGluAspProHisProSerPheArgLeuTrpLeuSerSerIleProHisProAspPheProIleSerIleLeuGlnValSerIleLysMetThrThrGluProProLysGlyLeuLysAlaAsnMetThrArgLeuTyrGlnLeuMetSerGluProGlnPheSerArgCysSerLysProAlaLysTyrLysLysLeuLeuPheSerLeuCysPhePheHisSerValLeuLeuGluArgLysLysPheLeuGlnLeuGlyTrpAsnIleIleTyrGlyPheAsnAspSerAspPheGluValSerGluAsnLeuLeuSerLeuTyrLeuAspGluTyrGluGluThrProTrpAspAlaLeuLysTyrLeuIleAlaGlyIleAsnTyrGlyGlyHisValThrAspAspTrpAspArgArgLeuLeuThrThrTyrIleAsnAspTyrPheCysAspGlnSerLeuSerThrProPheHisArgLeuSerAlaLeuGluThrTyrPheIleProLysAspGlySerLeuAlaSerTyrLysGluTyrIleSerLeuLeuProGlyMetAspProProGluAlaPheGlyGlnHisProAsnAlaAspValAlaSerGlnIleThrGluAlaGlnThrLeuPheAspThrLeuLeuSerLeuGlnProGlnIleThrProThrArgAlaGlyGlyGlnThrArgGluGluLysValLeuGluLeuAlaAlaAspValLysGlnLysIleProGluMetIleAspTyrGluGlyThrGlnLysLeuLeuAlaLeuAspProSerProLeuAsnValValLeuLeuGlnGluIleGlnArgTyrAsnThrLeuMetGlnThrIleLeuPheSerLeuThrAspLeuGluLysGlyIleGlnGlyLeuIleValMetSerThrSerLeuGluGluIlePheAsnCysIlePheAspAlaHisValProProLeuTrpGlyLysAlaTyrProSerGlnLysProLeuAlaAlaTrpThrArgAspLeuAlaMetArgValGluGlnPheGluLeuTrpAlaSerArgAlaArgProProValIlePheTrpLeuSerGlyPheThrPheProThrGlyPheLeuThrAlaValLeuGlnSerSerAlaArgGlnAsnAsnValSerValAspSerLeuSerTrpGluPheIleValSerThrValAspAspSerAsnLeuValTyrProProLysAspGlyValTrpValArgGlyLeuTyrLeuGluGlyAlaGlyTrpAspArgLysAsnSerCysLeuValGluAlaGluProMetGlnLeuValCysLeuMetProThrIleHisPheArgProAlaGluSerArgLysLysSerAlaLysGlyMetTyrSerCysProCysTyrTyrTyrProAsnArgAlaGlySerSerAspArgAlaSerPheValIleGlyIleAspLeuArgSerGlyAlaMetThrProAspHisTrpIleLysArgGlyThrAlaLeuLeuMetSerLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728477", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000572933.6:c.11644C>T" }, "RefSeq": { "hgvs": "NM_020877.5:c.11644C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000458355.1:p.Arg3882Ter" }, "RefSeq": { "hgvs": "NP_065928.2:p.Arg3882Ter" } } } } ], "type": "nucleotide" }