{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5293202", "communityStandardTitle": [ "NM_001077365.2(POMT1):c.246C>T (p.Phe82=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274327[alleleid]", "alleleId": 274327, "preferredName": "NM_001077365.2(POMT1):c.246C>T (p.Phe82=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290090", "RCV": [ "RCV000332614", "RCV001088902" ], "variationId": 290090 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-134381806-C-T", "id": "9-134381806-C-T", "variant": "9:134381806 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.134381806C>T?assembly=hg19", "id": "chr9:g.134381806C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.131506419C>T?assembly=hg38", "id": "chr9:g.131506419C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/148887050", "rs": 148887050 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-134381806-C-T?dataset=gnomad_r2_1", "id": "9-134381806-C-T", "variant": "9:134381806 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131506419-C-T?dataset=gnomad_r3", "id": "9-131506419-C-T", "variant": "9:131506419 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131506419-C-T?dataset=gnomad_r4", "id": "9-131506419-C-T", "variant": "9:131506419 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 131506419, "referenceAllele": "C", "start": 131506418 } ], "hgvs": [ "NC_000009.12:g.131506419C>T", "CM000671.2:g.131506419C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 134381806, "referenceAllele": "C", "start": 134381805 } ], "hgvs": [ "NC_000009.11:g.134381806C>T", "CM000671.1:g.134381806C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 133371627, "referenceAllele": "C", "start": 133371626 } ], "hgvs": [ "NC_000009.10:g.133371627C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 8518, "referenceAllele": "C", "start": 8517 } ], "hgvs": [ "NG_008896.1:g.8518C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001288" }, { "coordinates": [ { "allele": "T", "end": 8518, "referenceAllele": "C", "start": 8517 } ], "hgvs": [ "NG_008896.2:g.8518C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733319" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.13:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824001" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.7:n.355C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824581" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.6:c.237C>T" ], "proteinEffect": { "hgvs": "ENSP00000404119.2:p.Phe79=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824722" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.2:c.*322C>T" ], "proteinEffect": { "hgvs": "ENSP00000504346.2:n.*322C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826930" }, { "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.2:c.*429C>T" ], "proteinEffect": { "hgvs": "ENSP00000503157.2:n.*429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826933" }, { "coordinates": [ { "allele": "T", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678768.2:n.213C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826936" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "+", "endIntronOffset": 2079, "referenceAllele": "C", "start": 282, "startIntronDirection": "+", "startIntronOffset": 2078 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678942.2:c.122+2079C>T" ], "proteinEffect": { "hgvs": "ENSP00000504690.2:n.122+2079C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826937" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682070.1:n.443C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827068" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682813.1:n.248C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827801" }, { "coordinates": [ { "allele": "T", "end": 119, "endIntronDirection": "-", "endIntronOffset": 2491, "referenceAllele": "C", "start": 119, "startIntronDirection": "-", "startIntronOffset": 2492 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683229.1:c.-29-2492C>T" ], "proteinEffect": { "hgvs": "ENSP00000506964.1:n.-29-2492C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828211" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683392.1:n.420C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828371" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683712.1:n.383C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828683" }, { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683900.1:n.1422C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828866" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684579.1:n.428C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829531" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.12:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747952" }, { "coordinates": [ { "allele": "T", "end": 124, "endIntronDirection": "+", "endIntronOffset": 3346, "referenceAllele": "C", "start": 124, "startIntronDirection": "+", "startIntronOffset": 3345 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.5:c.-146+3346C>T" ], "proteinEffect": { "hgvs": "ENSP00000361294.5:n.-146+3346C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS750959" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.9:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750961" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.8:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000385797.4:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.246C>T" }, "RefSeq": { "hgvs": "NM_001077365.2:c.246C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Phe82=" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Phe82=" } } } }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.6:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000405149.2:p.Arg47Ter", "hgvsWellDefined": "ENSP00000405149.2:p.Arg47_Gln60delinsTrpGlnPhePheValGluGlnAsnTrpSerArgIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754596" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.6:c.177C>T" ], "proteinEffect": { "hgvs": "ENSP00000390737.2:p.Phe59=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754762" }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "C", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.2:c.-64C>T" ], "proteinEffect": { "hgvs": "ENSP00000402083.2:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS755329" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.2:n.214C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757440" }, { "coordinates": [ { "allele": "T", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "T", "end": 130, "endIntronDirection": "+", "endIntronOffset": 3346, "referenceAllele": "C", "start": 130, "startIntronDirection": "+", "startIntronOffset": 3345 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.-127+3346C>T" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:n.-127+3346C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "T", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676915.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000504628.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776586" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677028.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000503896.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776697" }, { "coordinates": [ { "allele": "T", "end": 171, "referenceAllele": "C", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.-64C>T" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 214, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.123-949C>T" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.123-949C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "C", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677167.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000503307.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776832" }, { "coordinates": [ { "allele": "T", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "+", "endIntronOffset": 3346, "referenceAllele": "C", "start": 129, "startIntronDirection": "+", "startIntronOffset": 3345 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677293.1:c.-30+3346C>T" ], "proteinEffect": { "hgvs": "ENSP00000504278.1:n.-30+3346C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776956" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "T", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.146C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "T", "end": 206, "referenceAllele": "C", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677677.1:n.206C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777335" }, { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677729.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000503581.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777385" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:p.Arg47Ter", "hgvsWellDefined": "ENSP00000503696.1:p.Arg47_His695delinsTrpGlnPhePheValGluGlnAsnTrpSerSerValValAlaPheProGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*429C>T" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*429C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.139C>T" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:p.Arg47Ter", "hgvsWellDefined": "ENSP00000503934.1:p.Arg47_Gln60delinsTrpGlnPhePheValGluGlnAsnTrpSerArgIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "T", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.85C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678707.1:n.143C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS778346" }, { "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*304C>T" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*304C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678785.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000504231.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778423" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "T", "end": 58, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 58, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.-71-949C>T" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:n.-71-949C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679221.1:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000504422.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778855" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "T", "end": 631, "referenceAllele": "C", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000418774.5:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000390737.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS285564" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.246C>T" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "T", "end": 82, "referenceAllele": "C", "start": 81 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000430619.1:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000402083.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS291235" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.-106C>T" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "T", "end": 220, "referenceAllele": "C", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000448212.5:c.84C>T" ], "proteinEffect": { "hgvs": "ENSP00000403736.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS299621" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000483472.1:n.214C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322933" }, { "@id": "http://reg.genome.network/allele/PA2825445119", "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "@id": "http://reg.genome.network/allele/PA2825446251", "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815183", "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.-106C>T" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.246C>T" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.246C>T" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.84C>T" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "T", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.-106C>T" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-1154C>T" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1154C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.-106C>T" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.246C>T" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.246C>T" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.84C>T" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.139C>T" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Arg47Ter", "hgvsWellDefined": "XP_011516445.1:p.Arg47_His642delinsTrpGlnPhePheValGluGlnAsnTrpSerArgGluCysSerHisHisSerValLysAlaAsnAlaPheGlyIleSerValAsnIlePheGlnSerIleGlyArgValValLeuProGluValLeuGlnLeuProLysAlaGlnProPhePheSerGluLeuValValLeuAlaAsnThrAspArgGlyArgLeuPheLeuCysSerGlyHisGlnValHisGlyCysValHisValArgAlaArgAlaGlyCysCysSerCysProCysLeuAlaProAlaTrpArgProAspPheValGlnCysLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.246C>T" ], "proteinEffect": { "hgvs": "XP_011516446.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "C", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.-64C>T" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.139C>T" ], "proteinEffect": { "hgvs": "XP_011516448.1:p.Arg47Ter", "hgvsWellDefined": "XP_011516448.1:p.Arg47_Met377delinsTrpGlnPhePheValGluGlnAsnTrpSerArgGluCysSerHisHisSerValLysAlaAsnAlaPheGlyIleSerValAsnIlePheGlnSerIleGlyArgValValLeuProGluValLeuGlnLeuProLysAlaGlnProPhePheSerGluLeuValValLeuAlaAsnThrAspArgGlyArgLeuPheLeuCysSerGlyHisGlnValHisGlyCysValHisValArgAlaArgAlaGlyCysCysSerCysProCysLeuAlaProAlaTrpArgProAspPheValGlnCysLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysAspGlyIleProMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.422C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "@id": "http://reg.genome.network/allele/PA2827713404", "coordinates": [ { "allele": "T", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.-106C>T" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "@id": "http://reg.genome.network/allele/PA2827714521", "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Arg47Ter", "hgvsWellDefined": "NP_001340125.1:p.Arg47_His695delinsTrpGlnPhePheValGluGlnAsnTrpSerSerValValAlaPheProGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "T", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001340127.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.-106C>T" ], "proteinEffect": { "hgvs": "NP_001340128.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.-64C>T" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.296C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.448C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.296C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.296C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.448C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.189C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.341C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.296C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.688C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.429C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.-1154C>T" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-1154C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.-106C>T" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.246C>T" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.246C>T" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.84C>T" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.139C>T" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Arg47Ter", "hgvsWellDefined": "XP_011516445.1:p.Arg47_His642delinsTrpGlnPhePheValGluGlnAsnTrpSerArgGluCysSerHisHisSerValLysAlaAsnAlaPheGlyIleSerValAsnIlePheGlnSerIleGlyArgValValLeuProGluValLeuGlnLeuProLysAlaGlnProPhePheSerGluLeuValValLeuAlaAsnThrAspArgGlyArgLeuPheLeuCysSerGlyHisGlnValHisGlyCysValHisValArgAlaArgAlaGlyCysCysSerCysProCysLeuAlaProAlaTrpArgProAspPheValGlnCysLeuCysValLeuSerLeuAlaArgProSerSerGlyPheAlaGlyHisProGlyArgProValLeuThrValLeuLeuArgProLeuAspSerSerLeuProLeuTrpAlaProArgProAsnHisValGlnCysLeuProGlyGlnLeuArgGlyArgThrSerSerAspHisSerGlySerAlaThrGlyGlyGlyLeuTrpValProGlyHisSerGluGluArgLeuTrpGluThrCysAlaLeuLeuAlaSerPheProProGlyHisLeuProHisAspValArgTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "C", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.-64C>T" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.-957C>T" ], "proteinEffect": { "hgvs": "XP_016869694.1:n.-957C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.-744C>T" ], "proteinEffect": { "hgvs": "XP_024303148.1:n.-744C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.-843C>T" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.-843C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.-2550C>T" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.-2550C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.341C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.370C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "@id": "http://reg.genome.network/allele/PA2825445119", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.246C>T" }, "RefSeq": { "hgvs": "NM_001077365.2:c.246C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Phe82=" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Phe82=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825446251", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815183", "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.-106C>T" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827712806", "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "@id": "http://reg.genome.network/allele/PA2827713404", "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.-106C>T" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "@id": "http://reg.genome.network/allele/PA2827714521", "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Arg47Ter", "hgvsWellDefined": "NP_001340125.1:p.Arg47_His695delinsTrpGlnPhePheValGluGlnAsnTrpSerSerValValAlaPheProGluTyrSerSerAsnValProValTrpSerLeuArgLeuLeuProAlaLeuAlaGlyAlaLeuSerValProMetAlaTyrGlnIleValLeuGluLeuHisPheSerHisCysAlaAlaMetGlyAlaAlaLeuLeuMetLeuIleGluAsnAlaLeuIleThrGlnSerArgLeuMetLeuLeuGluSerValLeuIlePhePheAsnLeuLeuAlaValLeuSerTyrLeuLysPhePheAsnCysGlnLysHisSerProPheSerLeuSerTrpTrpPheTrpLeuThrLeuThrGlyValAlaCysSerCysAlaValGlyIleLysTyrMetGlyValPheThrTyrValLeuValLeuGlyValAlaAlaValHisAlaTrpHisLeuLeuGlyAspGlnThrLeuSerAsnValCysValPheCysHisLeuLeuAlaArgAlaValAlaLeuLeuValIleProValValLeuTyrLeuLeuPhePheTyrValHisLeuIleLeuValPheArgSerGlyProHisAspGlnIleMetSerSerAlaPheGlnAlaSerLeuGluGlyGlyLeuAlaArgIleThrGlnGlyGlnProLeuGluValAlaPheGlySerGlnValThrLeuArgAsnValPheGlyLysProValProCysTrpLeuHisSerHisGlnAspThrTyrProMetIleTyrGluAsnGlyArgGlySerSerHisGlnGlnGlnValThrCysTyrProPheLysAspValAsnAsnTrpTrpIleValLysAspProArgArgHisGlnLeuValValSerSerProProArgProValArgHisGlyAspMetValGlnLeuValHisGlyMetThrThrArgSerLeuAsnThrHisAspValAlaAlaProLeuSerProHisSerGlnGluValSerCysTyrIleAspTyrAsnIleSerMetProAlaGlnAsnLeuTrpArgLeuGluIleValAsnArgGlySerAspThrAspValTrpLysThrIleLeuSerGluValArgPheValHisValAsnThrSerAlaValLeuLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "@id": "http://reg.genome.network/allele/PA2827715088", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "@id": "http://reg.genome.network/allele/PA2827715686", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.-106C>T" ], "proteinEffect": { "hgvs": "NP_001340128.2:n.-106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.-64C>T" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.-64C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "@id": "http://reg.genome.network/allele/PA2828535554", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "@id": "http://reg.genome.network/allele/PA2828536179", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.246C>T" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "T", "end": 396, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 396, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.-71-949C>T" ], "proteinEffect": { "hgvs": "NP_001361620.1:n.-71-949C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "C", "start": 308, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.-71-949C>T" ], "proteinEffect": { "hgvs": "NP_001361621.1:n.-71-949C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "@id": "http://reg.genome.network/allele/PA2828537703", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.84C>T" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Phe28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "coordinates": [ { "allele": "T", "end": 308, "endIntronDirection": "+", "endIntronOffset": 2079, "referenceAllele": "C", "start": 308, "startIntronDirection": "+", "startIntronOffset": 2078 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.-30+2079C>T" ], "proteinEffect": { "hgvs": "NP_001361624.1:n.-30+2079C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "@id": "http://reg.genome.network/allele/PA2829694345", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.246C>T" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Phe82=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.432C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.432C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.173C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.325C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.672C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.413C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }