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}, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "T", "end": 172, "endIntronDirection": "+", "endIntronOffset": 1152, "referenceAllele": "G", "start": 172, "startIntronDirection": "+", "startIntronOffset": 1151 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.-123+1152G>T" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-123+1152G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.7G>T" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Gly3Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "T", "end": 179, "endIntronDirection": "+", "endIntronOffset": 1152, "referenceAllele": "G", "start": 179, "startIntronDirection": "+", "startIntronOffset": 1151 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.-41+1152G>T" ], "proteinEffect": { "hgvs": "XP_005272215.1:n.-41+1152G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "T", "end": 176, "endIntronDirection": "+", "endIntronOffset": 1152, "referenceAllele": "G", "start": 176, "startIntronDirection": "+", "startIntronOffset": 1151 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.-123+1152G>T" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.-123+1152G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "G", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-1393G>T" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1393G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "T", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.-238G>T" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-238G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Gly3Ter", "hgvsWellDefined": "XP_011516442.1:p.Gly3_His698delinsPheLeuLysArgProValValValThrAlaAspIleAsnLeuSerLeuValAlaLeuThrGlyMetGlyLeuLeuSerArgLeuTrpArgLeuThrTyrProArgAlaValValPheAspGluValTyrTyrGlyGlnTyrIleSerPheTyrMetLysGlnIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Gly3Ter", "hgvsWellDefined": "XP_011516443.1:p.Gly3_His676delinsPheLeuLysArgProValValValThrAlaAspIleAsnLeuSerLeuValAlaLeuThrGlyMetGlyLeuLeuSerArgLeuTrpArgLeuThrTyrProArgAlaValValPheAspGluValTyrTyrGlyGlnTyrIleSerPheTyrMetLysGlnIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "T", "end": 126, "endIntronDirection": "+", "endIntronOffset": 1152, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 1151 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.-41+1152G>T" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.-41+1152G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Gly3Ter", "hgvsWellDefined": "XP_011516445.1:p.Gly3_His642delinsPheLeuLysArgProValValValThrAlaAspIleAsnLeuSerLeuValAlaLeuThrGlyMetGlyLeuLeuSerArgLeuTrpArgLeuThrTyrProArgAlaValValLeuPheArgArgIleArgTrpGlnPhePheValGluGlnAsnTrpSerArgGluCysSerHisHisSerValLysAlaAsnAlaPheGlyIleSerValAsnIlePheGlnSerIleGlyArgValValLeuProGluValLeuGlnLeuProLysAlaGlnProPhePheSerGluLeuValValLeuAlaAsnThrAspArgGlyArgLeuPheLeuCysSerGlyHisGlnValHisGlyCysValHisValArgAlaArgAlaGlyCysCysSerCysProCysLeuAlaProAlaTrpArgProAspPheValGlnCysLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "T", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Gly3Ter", "hgvsWellDefined": "XP_011516446.1:p.Gly3_Met482delinsPheLeuLysArgProValValValThrAlaAspIleAsnLeuSerLeuValAlaLeuThrGlyMetGlyLeuLeuSerArgLeuTrpArgLeuThrTyrProArgAlaValValPheAspGluValTyrTyrGlyGlnTyrIleSerPheTyrMetLysGlnIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetGlnMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "T", "end": 99, "endIntronDirection": "+", "endIntronOffset": 1152, "referenceAllele": "G", "start": 99, "startIntronDirection": "+", "startIntronOffset": 1151 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.-81+1152G>T" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-81+1152G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011516448.1:p.Gly3Ter", "hgvsWellDefined": "XP_011516448.1:p.Gly3_Met377delinsPheLeuLysArgProValValValThrAlaAspIleAsnLeuSerLeuValAlaLeuThrGlyMetGlyLeuLeuSerArgLeuTrpArgLeuThrTyrProArgAlaValValLeuPheArgArgIleArgTrpGlnPhePheValGluGlnAsnTrpSerArgGluCysSerHisHisSerValLysAlaAsnAlaPheGlyIleSerValAsnIlePheGlnSerIleGlyArgValValLeuProGluValLeuGlnLeuProLysAlaGlnProPhePheSerGluLeuValValLeuAlaAsnThrAspArgGlyArgLeuPheLeuCysSerGlyHisGlnValHisGlyCysValHisValArgAlaArgAlaGlyCysCysSerCysProCysLeuAlaProAlaTrpArgProAspPheValGlnCysLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "T", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.183G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Gly3Ter", "hgvsWellDefined": "NP_001340122.1:p.Gly3_His747delinsPheLeuLysArgProValValValThrAlaAspIleAsnLeuSerLeuValAlaLeuThrGlyMetGlyLeuLeuSerArgLeuTrpArgLeuThrTyrProArgAlaValValPheAspGluValTyrTyrGlyGlnTyrIleSerPheTyrMetLysGlnIlePhePheLeuAspAspSerGlyProProPheGlyHisMetValLeuAlaLeuGlyGlyTyrLeuGlyGlyPheAspGlyAsnPheLeuTrpAsnArgIleGlyAlaGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValGlyAlaAspValGlnCysCysMetArgProAlaCysMetGlyGlnMetArgMetSerGlnGlyValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "coordinates": [ { "allele": "T", "end": 412, "endIntronDirection": "+", "endIntronOffset": 912, "referenceAllele": "G", "start": 412, "startIntronDirection": "+", "startIntronOffset": 911 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.-41+912G>T" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.-41+912G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.-238G>T" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-238G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "@id": "http://reg.genome.network/allele/PA2827714491", "coordinates": [ { "allele": "T", "end": 209, 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