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"http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676915.1:c.486C>A" ], "proteinEffect": { "hgvs": "ENSP00000504628.1:p.Tyr162Ter", "hgvsWellDefined": "ENSP00000504628.1:p.Tyr162_Asn184del" }, "referenceSequence": "http://reg.genome.network/refseq/RS776586" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677028.1:c.*80C>A" ], "proteinEffect": { "hgvs": "ENSP00000503896.1:n.*80C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776697" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.177C>A" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:p.Tyr59Ter", "hgvsWellDefined": "ENSP00000502936.1:p.Tyr59_His573delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"ENSP00000503772.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"ENSP00000504346.1:p.Tyr157_Phe242delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "A", "end": 176, "referenceAllele": "C", "start": 175 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677444.1:c.176C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777106" }, { "coordinates": [ { "allele": "A", "end": 180, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "C", "start": 180, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ 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"ENSP00000503157.1:p.Tyr211_Phe296delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.543C>A" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:p.Tyr181Ter", "hgvsWellDefined": "ENSP00000503696.1:p.Tyr181_His695delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"ENSP00000503062.1:p.Tyr157_Phe242delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "A", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.*437C>A" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.*437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "A", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.325C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "A", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678693.1:n.316C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778332" }, { "coordinates": [ { "allele": "A", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678707.1:n.271C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778346" }, { "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*691C>A" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*691C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.*80C>A" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:n.*80C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.471C>A" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:p.Tyr157Ter", "hgvsWellDefined": "ENSP00000503718.1:p.Tyr157_His671delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679076.1:c.344C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778711" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.633C>A" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:p.Tyr211Ter", "hgvsWellDefined": "ENSP00000504257.1:p.Tyr211_Met460delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.282C>A" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:p.Tyr94Ter", "hgvsWellDefined": "ENSP00000503356.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.471C>A" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Tyr157Ter", "hgvsWellDefined": "ENSP00000343034.7:p.Tyr157_His671delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "A", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.633C>A" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Tyr211Ter", "hgvsWellDefined": "ENSP00000361302.3:p.Tyr211_His747delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.633C>A" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Tyr211Ter", "hgvsWellDefined": "ENSP00000385797.3:p.Tyr211_His725delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.282C>A" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:p.Tyr94Ter", "hgvsWellDefined": "ENSP00000384531.2:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "-", "endIntronOffset": 426, "referenceAllele": "C", "start": 565, "startIntronDirection": "-", "startIntronOffset": 427 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.189-427C>A" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.189-427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.633C>A" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Tyr211Ter", "hgvsWellDefined": "ENSP00000404119.1:p.Tyr211_His725delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.1:c.282C>A" ], "proteinEffect": { "hgvs": "ENSP00000402083.1:p.Tyr94Ter", "hgvsWellDefined": "ENSP00000402083.1:p.Tyr94_Glu168del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291235" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.282C>A" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:p.Tyr94Ter", "hgvsWellDefined": "ENSP00000395060.1:p.Tyr94_Thr297del" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000448212.5:c.471C>A" ], "proteinEffect": { "hgvs": "ENSP00000403736.1:p.Tyr157Ter", "hgvsWellDefined": "ENSP00000403736.1:p.Tyr157Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299621" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000462375.5:n.191C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306647" }, { "@id": "http://reg.genome.network/allele/PA2825445318", "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Tyr211Ter", "hgvsWellDefined": "NP_001070833.1:p.Tyr211_His725delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "@id": "http://reg.genome.network/allele/PA2825446443", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001070834.1:p.Tyr157_His671delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815303", "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Tyr211Ter", "hgvsWellDefined": "NP_001129585.1:p.Tyr211_His725delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "@id": "http://reg.genome.network/allele/PA2825816318", "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001129586.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.633C>A" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Tyr211Ter", "hgvsWellDefined": "NP_009102.3:p.Tyr211_His747delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.633C>A" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Tyr211Ter", "hgvsWellDefined": "XP_005272213.1:p.Tyr211_His747delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.471C>A" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Tyr157Ter", "hgvsWellDefined": "XP_005272215.1:p.Tyr157_His693delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "C", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.282C>A" ], "proteinEffect": { "hgvs": "XP_005272216.1:p.Tyr94Ter", "hgvsWellDefined": "XP_005272216.1:p.Tyr94_His630delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-767C>A" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-767C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.282C>A" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Tyr94Ter", "hgvsWellDefined": "XP_006716995.1:p.Tyr94_His630delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.486C>A" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Tyr162Ter", "hgvsWellDefined": "XP_011516442.1:p.Tyr162_His698delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.486C>A" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Tyr162Ter", "hgvsWellDefined": "XP_011516443.1:p.Tyr162_His676delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.324C>A" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Tyr108Ter", "hgvsWellDefined": "XP_011516444.1:p.Tyr108_His644delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.379C>A" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Arg127Ser", "hgvsWellDefined": "XP_011516445.1:p.Arg127Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.633C>A" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Tyr211Ter", "hgvsWellDefined": "XP_011516446.1:p.Tyr211_Met482delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.177C>A" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Tyr59Ter", "hgvsWellDefined": "XP_011516447.1:p.Tyr59_His595delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.379C>A" ], "proteinEffect": { "hgvs": "XP_011516448.1:p.Arg127Ser", "hgvsWellDefined": "XP_011516448.1:p.Arg127Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.809C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Tyr211Ter", "hgvsWellDefined": "NP_001340122.1:p.Tyr211_His747delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "@id": "http://reg.genome.network/allele/PA2827713491", "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001340123.1:p.Tyr157_His671delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "@id": "http://reg.genome.network/allele/PA2827714023", "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001340124.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "@id": "http://reg.genome.network/allele/PA2827714596", "coordinates": [ { "allele": "A", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.543C>A" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Tyr181Ter", "hgvsWellDefined": "NP_001340125.1:p.Tyr181_His695delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001340126.1:p.Tyr157_His693delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001340127.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001340127.1:p.Tyr157_His693delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001340128.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001340128.1:p.Tyr94_His630delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "@id": "http://reg.genome.network/allele/PA2827716834", "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.177C>A" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Tyr59Ter", "hgvsWellDefined": "NP_001340129.1:p.Tyr59_His573delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.683C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.835C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.683C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.571C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.835C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.464C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.728C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.683C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.1075C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "A", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.669C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.-767C>A" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-767C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.282C>A" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Tyr94Ter", "hgvsWellDefined": "XP_006716995.1:p.Tyr94_His630delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.486C>A" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Tyr162Ter", "hgvsWellDefined": "XP_011516442.1:p.Tyr162_His698delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.486C>A" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Tyr162Ter", "hgvsWellDefined": "XP_011516443.1:p.Tyr162_His676delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.324C>A" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Tyr108Ter", "hgvsWellDefined": "XP_011516444.1:p.Tyr108_His644delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.379C>A" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Arg127Ser", "hgvsWellDefined": "XP_011516445.1:p.Arg127Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.177C>A" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Tyr59Ter", "hgvsWellDefined": "XP_011516447.1:p.Tyr59_His595delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.-570C>A" ], "proteinEffect": { "hgvs": "XP_016869694.1:n.-570C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.-504C>A" ], "proteinEffect": { "hgvs": "XP_024303148.1:n.-504C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.-456C>A" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.-456C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "A", "end": 2199, "referenceAllele": "C", "start": 2198 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.-767C>A" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.-767C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.803C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.803C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.581C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.757C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "@id": "http://reg.genome.network/allele/PA2825445318", "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Tyr211Ter", "hgvsWellDefined": "NP_001070833.1:p.Tyr211_His725delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.633C>A" }, "RefSeq": { "hgvs": "NM_001077365.2:c.633C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Tyr211Ter" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Tyr211Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825446443", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001070834.1:p.Tyr157_His671delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815303", "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Tyr211Ter", "hgvsWellDefined": "NP_001129585.1:p.Tyr211_His725delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "@id": "http://reg.genome.network/allele/PA2825816318", "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001129586.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827712894", "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Tyr211Ter", "hgvsWellDefined": "NP_001340122.2:p.Tyr211_His747delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "@id": "http://reg.genome.network/allele/PA2827713491", "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001340123.1:p.Tyr157_His671delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "@id": "http://reg.genome.network/allele/PA2827714023", "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001340124.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "@id": "http://reg.genome.network/allele/PA2827714596", "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.543C>A" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Tyr181Ter", "hgvsWellDefined": "NP_001340125.1:p.Tyr181_His695delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "@id": "http://reg.genome.network/allele/PA2827715176", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Tyr157Ter", "hgvsWellDefined": "NP_001340126.2:p.Tyr157_His693delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "@id": "http://reg.genome.network/allele/PA2827715765", "coordinates": [ { "allele": "A", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Tyr157Ter", "hgvsWellDefined": "NP_001340127.2:p.Tyr157_His693delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "@id": "http://reg.genome.network/allele/PA2827716309", "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001340128.2:p.Tyr94Ter", "hgvsWellDefined": "NP_001340128.2:p.Tyr94_His630delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "@id": "http://reg.genome.network/allele/PA2827716834", "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.177C>A" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Tyr59Ter", "hgvsWellDefined": "NP_001340129.1:p.Tyr59_His573delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "@id": "http://reg.genome.network/allele/PA2828535641", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001361618.1:p.Tyr157_His721delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "@id": "http://reg.genome.network/allele/PA2828536267", "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.633C>A" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Tyr211Ter", "hgvsWellDefined": "NP_001361619.1:p.Tyr211_His652delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "@id": "http://reg.genome.network/allele/PA2828536714", "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001361620.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001361620.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "@id": "http://reg.genome.network/allele/PA2573073203", "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.282C>A" ], "proteinEffect": { "hgvs": "NP_001361621.1:p.Tyr94Ter", "hgvsWellDefined": "NP_001361621.1:p.Tyr94_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "@id": "http://reg.genome.network/allele/PA2828537774", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.471C>A" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Tyr157Ter", "hgvsWellDefined": "NP_001361622.1:p.Tyr157_His608delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetMetHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "@id": "http://reg.genome.network/allele/PA2828538224", "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.177C>A" ], "proteinEffect": { "hgvs": "NP_001361624.1:p.Tyr59Ter", "hgvsWellDefined": "NP_001361624.1:p.Tyr59_His595delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "@id": "http://reg.genome.network/allele/PA2829694505", "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.633C>A" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Tyr211Ter", "hgvsWellDefined": "NP_009102.4:p.Tyr211_His747delinsValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.667C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.819C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.667C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.555C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.819C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.448C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.712C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.667C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.1059C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.653C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }