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}, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "T", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*780T>A" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*780T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "T", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.435T>A" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:p.Cys145Ter", "hgvsWellDefined": "ENSP00000503062.1:p.Cys145_Phe242delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "T", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.*307T>A" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.*307T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.289T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "T", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678693.1:n.280T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778332" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "T", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678707.1:n.235T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778346" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "T", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*655T>A" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*655T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "T", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.*44T>A" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:n.*44T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "T", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.435T>A" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:p.Cys145Ter", "hgvsWellDefined": "ENSP00000503718.1:p.Cys145_His671delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "T", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679076.1:c.308T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778711" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "T", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.597T>A" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:p.Cys199Ter", "hgvsWellDefined": "ENSP00000504257.1:p.Cys199_Met460delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "T", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.246T>A" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:p.Cys82Ter", "hgvsWellDefined": "ENSP00000503356.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.435T>A" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Cys145Ter", "hgvsWellDefined": "ENSP00000343034.7:p.Cys145_His671delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "T", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.597T>A" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Cys199Ter", "hgvsWellDefined": "ENSP00000361302.3:p.Cys199_His747delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "T", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.597T>A" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Cys199Ter", "hgvsWellDefined": "ENSP00000385797.3:p.Cys199_His725delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.246T>A" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:p.Cys82Ter", "hgvsWellDefined": "ENSP00000384531.2:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "-", "endIntronOffset": 556, "referenceAllele": "T", "start": 565, "startIntronDirection": "-", "startIntronOffset": 557 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.189-557T>A" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.189-557T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.597T>A" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Cys199Ter", "hgvsWellDefined": "ENSP00000404119.1:p.Cys199_His725delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "T", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.1:c.246T>A" ], "proteinEffect": { "hgvs": "ENSP00000402083.1:p.Cys82Ter", "hgvsWellDefined": "ENSP00000402083.1:p.Cys82_Glu168del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291235" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "T", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.246T>A" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:p.Cys82Ter", "hgvsWellDefined": "ENSP00000395060.1:p.Cys82_Thr297del" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "T", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000448212.5:c.435T>A" ], "proteinEffect": { "hgvs": "ENSP00000403736.1:p.Cys145Ter", "hgvsWellDefined": "ENSP00000403736.1:p.Cys145Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299621" }, { "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "T", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000462375.5:n.155T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306647" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Cys199Ter", "hgvsWellDefined": "NP_001070833.1:p.Cys199_His725delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Cys145Ter", "hgvsWellDefined": "NP_001070834.1:p.Cys145_His671delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Cys199Ter", "hgvsWellDefined": "NP_001129585.1:p.Cys199_His725delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Cys82Ter", "hgvsWellDefined": "NP_001129586.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.597T>A" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Cys199Ter", "hgvsWellDefined": "NP_009102.3:p.Cys199_His747delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.597T>A" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Cys199Ter", "hgvsWellDefined": "XP_005272213.1:p.Cys199_His747delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "T", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.435T>A" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Cys145Ter", "hgvsWellDefined": "XP_005272215.1:p.Cys145_His693delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "T", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.246T>A" ], "proteinEffect": { "hgvs": "XP_005272216.1:p.Cys82Ter", "hgvsWellDefined": "XP_005272216.1:p.Cys82_His630delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "A", "end": 727, "referenceAllele": "T", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-803T>A" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-803T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "T", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.246T>A" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Cys82Ter", "hgvsWellDefined": "XP_006716995.1:p.Cys82_His630delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "T", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.450T>A" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Cys150Ter", "hgvsWellDefined": "XP_011516442.1:p.Cys150_His698delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "T", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.450T>A" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Cys150Ter", "hgvsWellDefined": "XP_011516443.1:p.Cys150_His676delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.288T>A" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Cys96Ter", "hgvsWellDefined": "XP_011516444.1:p.Cys96_His644delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.343T>A" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Cys115Ser", "hgvsWellDefined": "XP_011516445.1:p.Cys115Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "T", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.597T>A" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Cys199Ter", "hgvsWellDefined": "XP_011516446.1:p.Cys199_Met482delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "T", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.141T>A" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Cys47Ter", "hgvsWellDefined": "XP_011516447.1:p.Cys47_His595delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.343T>A" ], "proteinEffect": { "hgvs": "XP_011516448.1:p.Cys115Ser", "hgvsWellDefined": "XP_011516448.1:p.Cys115Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "T", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.773T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Cys199Ter", "hgvsWellDefined": "NP_001340122.1:p.Cys199_His747delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "T", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Cys145Ter", "hgvsWellDefined": "NP_001340123.1:p.Cys145_His671delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "T", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Cys82Ter", "hgvsWellDefined": "NP_001340124.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "coordinates": [ { "allele": "A", "end": 709, "referenceAllele": "T", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.507T>A" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Cys169Ter", "hgvsWellDefined": "NP_001340125.1:p.Cys169_His695delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Cys145Ter", "hgvsWellDefined": "NP_001340126.1:p.Cys145_His693delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "T", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001340127.1:p.Cys145Ter", "hgvsWellDefined": "NP_001340127.1:p.Cys145_His693delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001340128.1:p.Cys82Ter", "hgvsWellDefined": "NP_001340128.1:p.Cys82_His630delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "coordinates": [ { "allele": "A", "end": 393, "referenceAllele": "T", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.141T>A" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Cys47Ter", "hgvsWellDefined": "NP_001340129.1:p.Cys47_His573delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.647T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.799T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.647T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "T", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.535T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.799T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "T", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.428T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "T", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.692T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.647T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.1039T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "T", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.633T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "A", "end": 765, "referenceAllele": "T", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.-803T>A" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-803T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "T", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.246T>A" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Cys82Ter", "hgvsWellDefined": "XP_006716995.1:p.Cys82_His630delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "T", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.450T>A" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Cys150Ter", "hgvsWellDefined": "XP_011516442.1:p.Cys150_His698delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "T", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.450T>A" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Cys150Ter", "hgvsWellDefined": "XP_011516443.1:p.Cys150_His676delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.288T>A" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Cys96Ter", "hgvsWellDefined": "XP_011516444.1:p.Cys96_His644delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.343T>A" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Cys115Ser", "hgvsWellDefined": "XP_011516445.1:p.Cys115Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "T", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.141T>A" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Cys47Ter", "hgvsWellDefined": "XP_011516447.1:p.Cys47_His595delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "T", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.-606T>A" ], "proteinEffect": { "hgvs": "XP_016869694.1:n.-606T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.-540T>A" ], "proteinEffect": { "hgvs": "XP_024303148.1:n.-540T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "T", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.-492T>A" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.-492T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "A", "end": 2163, "referenceAllele": "T", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.-803T>A" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.-803T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "T", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.767T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "T", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.767T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.545T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "T", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.721T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Cys199Ter", "hgvsWellDefined": "NP_001070833.1:p.Cys199_His725delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.597T>A" }, "RefSeq": { "hgvs": "NM_001077365.2:c.597T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Cys199Ter" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Cys199Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Cys145Ter", "hgvsWellDefined": "NP_001070834.1:p.Cys145_His671delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "T", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Cys199Ter", "hgvsWellDefined": "NP_001129585.1:p.Cys199_His725delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "T", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Cys82Ter", "hgvsWellDefined": "NP_001129586.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "T", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Cys199Ter", "hgvsWellDefined": "NP_001340122.2:p.Cys199_His747delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "T", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Cys145Ter", "hgvsWellDefined": "NP_001340123.1:p.Cys145_His671delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "T", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Cys82Ter", "hgvsWellDefined": "NP_001340124.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "T", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.507T>A" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Cys169Ter", "hgvsWellDefined": "NP_001340125.1:p.Cys169_His695delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Cys145Ter", "hgvsWellDefined": "NP_001340126.2:p.Cys145_His693delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "T", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Cys145Ter", "hgvsWellDefined": "NP_001340127.2:p.Cys145_His693delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "T", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001340128.2:p.Cys82Ter", "hgvsWellDefined": "NP_001340128.2:p.Cys82_His630delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "T", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.141T>A" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Cys47Ter", "hgvsWellDefined": "NP_001340129.1:p.Cys47_His573delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Cys145Ter", "hgvsWellDefined": "NP_001361618.1:p.Cys145_His721delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.597T>A" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Cys199Ter", "hgvsWellDefined": "NP_001361619.1:p.Cys199_His652delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "T", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001361620.1:p.Cys82Ter", "hgvsWellDefined": "NP_001361620.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "T", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.246T>A" ], "proteinEffect": { "hgvs": "NP_001361621.1:p.Cys82Ter", "hgvsWellDefined": "NP_001361621.1:p.Cys82_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.435T>A" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Cys145Ter", "hgvsWellDefined": "NP_001361622.1:p.Cys145_His608delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetMetHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "T", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.141T>A" ], "proteinEffect": { "hgvs": "NP_001361624.1:p.Cys47Ter", "hgvsWellDefined": "NP_001361624.1:p.Cys47_His595delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.597T>A" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Cys199Ter", "hgvsWellDefined": "NP_009102.4:p.Cys199_His747delinsAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.631T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.783T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.631T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.519T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.783T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "T", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.412T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "T", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.676T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "T", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.631T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "T", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.1023T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "T", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.617T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }