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"ENSP00000385797.4:p.Gln57_His725delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"startIntronDirection": "-", "startIntronOffset": 23 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.6:c.123-23C>T" ], "proteinEffect": { "hgvs": "ENSP00000390737.2:n.123-23C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS754762" }, { "coordinates": [ { "allele": "T", "end": 99, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 99, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.2:c.-80-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000402083.2:n.-80-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS755329" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.2:n.137C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757440" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000503281.1:p.Gln57_His725delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "T", "end": 130, "endIntronDirection": "+", "endIntronOffset": 3087, "referenceAllele": "C", "start": 130, "startIntronDirection": "+", "startIntronOffset": 3086 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.-127+3087C>T" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:n.-127+3087C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "T", "end": 119, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 119, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676915.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000504628.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000504628.1:p.Gln57_Asn184del" }, "referenceSequence": "http://reg.genome.network/refseq/RS776586" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "C", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677028.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000503896.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000503896.1:p.Gln3_Leu92delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleAlaLeuPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776697" }, { "coordinates": [ { "allele": "T", "end": 154, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 154, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.-80-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:n.-80-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "-", "endIntronOffset": 1207, "referenceAllele": "C", "start": 214, "startIntronDirection": "-", "startIntronOffset": 1208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.123-1208C>T" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.123-1208C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677167.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000503307.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000503307.1:p.Gln57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776832" }, { "coordinates": [ { "allele": "T", "end": 176, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 176, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "+", "endIntronOffset": 3087, "referenceAllele": "C", "start": 129, "startIntronDirection": "+", "startIntronOffset": 3086 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677293.1:c.-30+3087C>T" ], "proteinEffect": { "hgvs": "ENSP00000504278.1:n.-30+3087C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776956" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000504346.1:p.Gln3_Phe242delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 129, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.130-243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000503552.1:p.Gln3_His608delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetMetHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677677.1:n.129C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777335" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677729.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000503581.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000503581.1:p.Gln57_Leu146delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleAlaLeuPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777385" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000503488.1:p.Gln3_Ile190delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000503157.1:p.Gln57_Phe296delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "T", "end": 278, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 278, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.123-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:n.123-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*352C>T" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*352C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000503062.1:p.Gln3_Phe242delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyAlaSerValTrpGluAlaArgValSerValThrAsnPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "T", "end": 290, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 290, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.123-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.123-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "T", "end": 68, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 68, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.69-243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "T", "end": 126, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 126, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678707.1:n.127-243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778346" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*227C>T" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*227C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678785.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000504231.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000504231.1:p.Gln3Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS778423" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000503893.1:p.Gln57_Leu146delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleAlaLeuPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "T", "end": 177, "referenceAllele": "C", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000503718.1:p.Gln3_His671delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000504257.1:p.Gln57_Met460delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "T", "end": 58, "endIntronDirection": "-", "endIntronOffset": 1207, "referenceAllele": "C", "start": 58, "startIntronDirection": "-", "startIntronOffset": 1208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.-71-1208C>T" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:n.-71-1208C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "T", "end": 250, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 250, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679221.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000504422.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778855" }, { "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Gln3Ter", "hgvsWellDefined": "ENSP00000343034.7:p.Gln3_His671delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Gln57Ter", "hgvsWellDefined": "ENSP00000361302.3:p.Gln57_His747delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Gln57Ter", "hgvsWellDefined": "ENSP00000385797.3:p.Gln57_His725delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "T", "end": 172, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 172, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "T", "end": 255, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 255, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.5:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000390737.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000390737.1:p.Gln57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285564" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Gln57Ter", "hgvsWellDefined": "ENSP00000404119.1:p.Gln57_His725delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "T", "end": 65, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 65, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000402083.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS291235" }, { "coordinates": [ { "allele": "T", "end": 156, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 156, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.-122-243C>T" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000448212.5:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000403736.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000403736.1:p.Gln3Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299621" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.1:n.137C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322933" }, { "@id": "http://reg.genome.network/allele/PA2825445070", "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Gln57Ter", "hgvsWellDefined": "NP_001070833.1:p.Gln57_His725delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "@id": "http://reg.genome.network/allele/PA2825446207", "coordinates": [ { "allele": "T", "end": 219, "referenceAllele": "C", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Gln3Ter", "hgvsWellDefined": "NP_001070834.1:p.Gln3_His671delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815159", "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Gln57Ter", "hgvsWellDefined": "NP_001129585.1:p.Gln57_His725delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "T", "end": 172, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 172, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.169C>T" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Gln57Ter", "hgvsWellDefined": "NP_009102.3:p.Gln57_His747delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.169C>T" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Gln57Ter", "hgvsWellDefined": "XP_005272213.1:p.Gln57_His747delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.7C>T" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Gln3Ter", "hgvsWellDefined": "XP_005272215.1:p.Gln3_His693delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "T", "end": 176, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 176, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-1231C>T" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1231C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "T", "end": 209, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 209, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.169C>T" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Gln57Ter", "hgvsWellDefined": "XP_011516442.1:p.Gln57_His698delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.169C>T" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Gln57Ter", "hgvsWellDefined": "XP_011516443.1:p.Gln57_His676delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.7C>T" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Gln3Ter", "hgvsWellDefined": "XP_011516444.1:p.Gln3_His644delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 324, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.123-243C>T" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.123-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.169C>T" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Gln57Ter", "hgvsWellDefined": "XP_011516446.1:p.Gln57_Met482delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "T", "end": 99, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 99, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.-80-243C>T" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-80-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 324, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.123-243C>T" ], "proteinEffect": { "hgvs": "XP_011516448.1:n.123-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.345C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Gln57Ter", "hgvsWellDefined": "NP_001340122.1:p.Gln57_His747delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "@id": "http://reg.genome.network/allele/PA2827713383", "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Gln3Ter", "hgvsWellDefined": "NP_001340123.1:p.Gln3_His671delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 324, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.-122-243C>T" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 324, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.123-243C>T" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.123-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "T", "end": 219, "referenceAllele": "C", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Gln3Ter", "hgvsWellDefined": 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"C", "start": 324, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.325-243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "T", "end": 219, "referenceAllele": "C", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.219C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "T", "end": 412, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 412, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.413-243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.-1231C>T" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1231C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "T", "end": 209, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 209, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.-122-243C>T" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.169C>T" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Gln57Ter", "hgvsWellDefined": "XP_011516442.1:p.Gln57_His698delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"XP_011516443.1:p.Gln57_His676delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"XP_011516444.1:p.Gln3_His644delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" 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"POMT1", "hgvs": [ "XM_024447381.1:c.-920C>T" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.-920C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.-2627C>T" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.-2627C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 324, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.325-243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "@id": "http://reg.genome.network/allele/PA2825445070", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Gln57Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.169C>T" }, "RefSeq": { "hgvs": "NM_001077365.2:c.169C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Gln57Ter" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Gln57Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825446207", "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Gln3Ter", "hgvsWellDefined": "NP_001070834.1:p.Gln3_His671delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815159", "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Gln57Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "T", "end": 156, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 156, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.-122-243C>T" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827712785", "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Gln57Ter", "hgvsWellDefined": "NP_001340122.2:p.Gln57_His747delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "@id": "http://reg.genome.network/allele/PA2827713383", "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Gln3Ter", "hgvsWellDefined": "NP_001340123.1:p.Gln3_His671delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 308, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.-122-243C>T" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 308, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.123-243C>T" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.123-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "@id": "http://reg.genome.network/allele/PA2827715067", "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Gln3Ter", "hgvsWellDefined": "NP_001340126.2:p.Gln3_His693delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "@id": "http://reg.genome.network/allele/PA2827715666", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Gln3Ter", "hgvsWellDefined": "NP_001340127.2:p.Gln3_His693delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "T", "end": 156, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 156, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.-122-243C>T" ], "proteinEffect": { "hgvs": "NP_001340128.2:n.-122-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "T", "end": 156, "endIntronDirection": "-", "endIntronOffset": 242, "referenceAllele": "C", "start": 156, "startIntronDirection": "-", "startIntronOffset": 243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.-80-243C>T" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.-80-243C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "@id": "http://reg.genome.network/allele/PA2828535533", "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Gln3Ter", "hgvsWellDefined": "NP_001361618.1:p.Gln3_His721delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValLeuGlyGluLysThrProIleLeuAsnValLeuGluAlaGlyArgProGlyGlnProArgLeuLeuAlaSerAlaGlyLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "@id": "http://reg.genome.network/allele/PA2828536157", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Gln57Ter", "hgvsWellDefined": "NP_001361619.1:p.Gln57_His652delinsIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "T", "end": 396, "endIntronDirection": "-", "endIntronOffset": 1207, "referenceAllele": "C", "start": 396, "startIntronDirection": "-", "startIntronOffset": 1208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.-71-1208C>T" ], "proteinEffect": { "hgvs": "NP_001361620.1:n.-71-1208C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "-", "endIntronOffset": 1207, "referenceAllele": "C", "start": 308, "startIntronDirection": "-", "startIntronOffset": 1208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.-71-1208C>T" ], "proteinEffect": { "hgvs": "NP_001361621.1:n.-71-1208C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "@id": "http://reg.genome.network/allele/PA2828537686", "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.7C>T" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Gln3Ter", "hgvsWellDefined": 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