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"ENSP00000385797.4:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.264G>A" }, "RefSeq": { "hgvs": "NM_001077365.2:c.264G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Trp88Ter" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Trp88Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.6:c.157G>A" ], "proteinEffect": { "hgvs": "ENSP00000405149.2:p.Glu53Lys", "hgvsWellDefined": "ENSP00000405149.2:p.Glu53Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS754596" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.6:c.195G>A" ], "proteinEffect": { "hgvs": "ENSP00000390737.2:p.Trp65Ter", "hgvsWellDefined": "ENSP00000390737.2:p.Trp65_Ala109del" }, "referenceSequence": "http://reg.genome.network/refseq/RS754762" }, { "coordinates": [ { "allele": "A", "end": 134, "referenceAllele": "G", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.2:c.-46G>A" ], "proteinEffect": { "hgvs": "ENSP00000402083.2:n.-46G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755329" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.2:n.232G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757440" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:p.Trp88Ter", "hgvsWellDefined": "ENSP00000503281.1:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "A", "end": 130, "endIntronDirection": "+", "endIntronOffset": 3364, "referenceAllele": "G", "start": 130, "startIntronDirection": "+", "startIntronOffset": 3363 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.-127+3364G>A" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:n.-127+3364G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676915.1:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000504628.1:p.Trp88Ter", "hgvsWellDefined": "ENSP00000504628.1:p.Trp88_Asn184del" }, "referenceSequence": "http://reg.genome.network/refseq/RS776586" }, { "coordinates": [ { "allele": "A", "end": 220, "referenceAllele": "G", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677028.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000503896.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000503896.1:p.Trp34_Leu92delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleAlaLeuPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776697" }, { "coordinates": [ { "allele": "A", "end": 189, "referenceAllele": "G", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.-46G>A" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:n.-46G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "A", "end": 214, "endIntronDirection": "-", "endIntronOffset": 930, "referenceAllele": "G", "start": 214, "startIntronDirection": "-", "startIntronOffset": 931 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.123-931G>A" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.123-931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677167.1:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000503307.1:p.Trp88Ter", "hgvsWellDefined": "ENSP00000503307.1:p.Trp88Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776832" }, { "coordinates": [ { "allele": "A", "end": 211, "referenceAllele": "G", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "A", "end": 129, "endIntronDirection": "+", "endIntronOffset": 3364, "referenceAllele": "G", "start": 129, "startIntronDirection": "+", "startIntronOffset": 3363 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677293.1:c.-30+3364G>A" ], "proteinEffect": { "hgvs": "ENSP00000504278.1:n.-30+3364G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776956" }, { "coordinates": [ 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"http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "A", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.164G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "G", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000503552.1:p.Trp34_His608delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetMetHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"ENSP00000503718.1:p.Trp34_His671delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:p.Trp88Ter", "hgvsWellDefined": "ENSP00000504257.1:p.Trp88_Met460delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "A", "end": 58, "endIntronDirection": "-", "endIntronOffset": 930, "referenceAllele": "G", "start": 58, "startIntronDirection": "-", "startIntronOffset": 931 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.-71-931G>A" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:n.-71-931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679221.1:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000504422.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778855" }, { "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Trp34Ter", "hgvsWellDefined": "ENSP00000343034.7:p.Trp34_His671delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Trp88Ter", "hgvsWellDefined": "ENSP00000361302.3:p.Trp88_His747delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Trp88Ter", "hgvsWellDefined": "ENSP00000385797.3:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.5:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000390737.1:p.Trp88Ter", "hgvsWellDefined": "ENSP00000390737.1:p.Trp88Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285564" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.264G>A" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Trp88Ter", "hgvsWellDefined": "ENSP00000404119.1:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "A", "end": 100, "referenceAllele": "G", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.1:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000402083.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS291235" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "G", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000448212.5:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000403736.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000403736.1:p.Trp34Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299621" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.1:n.232G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322933" }, { "@id": "http://reg.genome.network/allele/PA2825445126", "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.264G>A" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Trp88Ter", "hgvsWellDefined": "NP_001070833.1:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "@id": "http://reg.genome.network/allele/PA2825446258", "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Trp34Ter", "hgvsWellDefined": "NP_001070834.1:p.Trp34_His671delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815187", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.264G>A" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Trp88Ter", "hgvsWellDefined": "NP_001129585.1:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.-88G>A" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.264G>A" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Trp88Ter", "hgvsWellDefined": "NP_009102.3:p.Trp88_His747delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.264G>A" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Trp88Ter", "hgvsWellDefined": "XP_005272213.1:p.Trp88_His747delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Trp34Ter", "hgvsWellDefined": "XP_005272215.1:p.Trp34_His693delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "A", "end": 211, "referenceAllele": "G", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.-88G>A" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-1136G>A" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1136G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.-88G>A" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.264G>A" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Trp88Ter", "hgvsWellDefined": "XP_011516442.1:p.Trp88_His698delinsAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.264G>A" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Trp88Ter", "hgvsWellDefined": "XP_011516443.1:p.Trp88_His676delinsAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "G", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.102G>A" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Trp34Ter", "hgvsWellDefined": "XP_011516444.1:p.Trp34_His644delinsAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.157G>A" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Glu53Lys", "hgvsWellDefined": "XP_011516445.1:p.Glu53Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.264G>A" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Trp88Ter", "hgvsWellDefined": "XP_011516446.1:p.Trp88_Met482delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "A", "end": 134, "referenceAllele": "G", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.-46G>A" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-46G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.157G>A" ], "proteinEffect": { "hgvs": "XP_011516448.1:p.Glu53Lys", "hgvsWellDefined": "XP_011516448.1:p.Glu53Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.440G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.264G>A" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Trp88Ter", "hgvsWellDefined": "NP_001340122.1:p.Trp88_His747delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "@id": "http://reg.genome.network/allele/PA2827713408", "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Trp34Ter", "hgvsWellDefined": "NP_001340123.1:p.Trp34_His671delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.-88G>A" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "@id": "http://reg.genome.network/allele/PA2827714523", "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.157G>A" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Glu53Lys", "hgvsWellDefined": "NP_001340125.1:p.Glu53Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Trp34Ter", "hgvsWellDefined": "NP_001340126.1:p.Trp34_His693delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001340127.1:p.Trp34Ter", "hgvsWellDefined": "NP_001340127.1:p.Trp34_His693delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"NP_001070833.1:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.264G>A" }, "RefSeq": { "hgvs": "NM_001077365.2:c.264G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Trp88Ter" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Trp88Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825446258", "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Trp34Ter", "hgvsWellDefined": "NP_001070834.1:p.Trp34_His671delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815187", "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.264G>A" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Trp88Ter", "hgvsWellDefined": "NP_001129585.1:p.Trp88_His725delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.-88G>A" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827712810", "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.264G>A" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Trp88Ter", "hgvsWellDefined": "NP_001340122.2:p.Trp88_His747delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "@id": "http://reg.genome.network/allele/PA2827713408", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Trp34Ter", "hgvsWellDefined": "NP_001340123.1:p.Trp34_His671delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "G", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.-88G>A" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "@id": "http://reg.genome.network/allele/PA2827714523", "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "G", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.157G>A" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Glu53Lys", "hgvsWellDefined": "NP_001340125.1:p.Glu53Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "@id": "http://reg.genome.network/allele/PA2827715092", "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Trp34Ter", "hgvsWellDefined": "NP_001340126.2:p.Trp34_His693delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "@id": "http://reg.genome.network/allele/PA2827715690", "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Trp34Ter", "hgvsWellDefined": "NP_001340127.2:p.Trp34_His693delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.-88G>A" ], "proteinEffect": { "hgvs": "NP_001340128.2:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.-46G>A" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.-46G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "@id": "http://reg.genome.network/allele/PA2828535558", "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Trp34Ter", "hgvsWellDefined": "NP_001361618.1:p.Trp34_His721delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "@id": "http://reg.genome.network/allele/PA2828536183", "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.264G>A" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Trp88Ter", "hgvsWellDefined": "NP_001361619.1:p.Trp88_His652delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "A", "end": 396, "endIntronDirection": "-", "endIntronOffset": 930, "referenceAllele": "G", "start": 396, "startIntronDirection": "-", "startIntronOffset": 931 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.-71-931G>A" ], "proteinEffect": { "hgvs": "NP_001361620.1:n.-71-931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "A", "end": 308, "endIntronDirection": "-", "endIntronOffset": 930, "referenceAllele": "G", "start": 308, "startIntronDirection": "-", "startIntronOffset": 931 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.-71-931G>A" ], "proteinEffect": { "hgvs": "NP_001361621.1:n.-71-931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "@id": "http://reg.genome.network/allele/PA2828537707", "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Trp34Ter", "hgvsWellDefined": "NP_001361622.1:p.Trp34_His608delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetMetHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "coordinates": [ { "allele": "A", "end": 308, "endIntronDirection": "+", "endIntronOffset": 2097, "referenceAllele": "G", "start": 308, "startIntronDirection": "+", "startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.-30+2097G>A" ], "proteinEffect": { "hgvs": "NP_001361624.1:n.-30+2097G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "@id": "http://reg.genome.network/allele/PA1139722429", "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.264G>A" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Trp88Ter", "hgvsWellDefined": "NP_009102.4:p.Trp88_His747delinsAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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