{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375311038", "communityStandardTitle": [ "NM_001077365.2(POMT1):c.1273-2A>G" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3104983[alleleid]", "alleleId": 3104983, "preferredName": "NM_001077365.2(POMT1):c.1273-2A>G" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2945212", "RCV": [ "RCV003800866" ], "variationId": 2945212 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.134393830A>G?assembly=hg19", "id": "chr9:g.134393830A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.131518443A>G?assembly=hg38", "id": "chr9:g.131518443A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2539363727", "rs": 2539363727 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 131518443, "referenceAllele": "A", "start": 131518442 } ], "hgvs": [ "NC_000009.12:g.131518443A>G", "CM000671.2:g.131518443A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 134393830, "referenceAllele": "A", "start": 134393829 } ], "hgvs": [ "NC_000009.11:g.134393830A>G", "CM000671.1:g.134393830A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 133383651, "referenceAllele": "A", "start": 133383650 } ], "hgvs": [ "NC_000009.10:g.133383651A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 20542, "referenceAllele": "A", "start": 20541 } ], "hgvs": [ "NG_008896.1:g.20542A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001288" }, { "coordinates": [ { "allele": "G", "end": 20542, "referenceAllele": "A", "start": 20541 } ], "hgvs": [ "NG_008896.2:g.20542A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS733319" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1329, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1329, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.13:c.1111-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS824001" }, { "coordinates": [ { "allele": "G", "end": 1812, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1812, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.7:n.1813-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS824581" }, { "coordinates": [ { "allele": "G", "end": 1329, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1329, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.6:c.1330-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000404119.2:n.1330-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS824722" }, { "coordinates": [ { "allele": "G", "end": 1836, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1836, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.2:c.*1617-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000504346.2:n.*1617-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS826930" }, { "coordinates": [ { "allele": "G", "end": 2362, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2362, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.2:c.*1456-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503157.2:n.*1456-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS826933" }, { "coordinates": [ { "allele": "G", "end": 1737, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1737, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682070.1:n.1738-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827068" }, { "coordinates": [ { "allele": "G", "end": 43, "referenceAllele": "A", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682535.1:n.43A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827525" }, { "coordinates": [ { "allele": "G", "end": 210, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 210, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682539.1:c.211-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827529" }, { "coordinates": [ { "allele": "G", "end": 1537, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1537, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682813.1:n.1538-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827801" }, { "coordinates": [ { "allele": "G", "end": 4019, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 4019, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683392.1:n.4020-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828371" }, { "coordinates": [ { "allele": "G", "end": 1677, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1677, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683712.1:n.1678-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828683" }, { "coordinates": [ { "allele": "G", "end": 3172, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3172, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683900.1:n.3173-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828866" }, { "coordinates": [ { "allele": "G", "end": 1938, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1938, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684062.1:n.1939-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829021" }, { "coordinates": [ { "allele": "G", "end": 3118, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3118, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684579.1:n.3119-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829531" }, { "coordinates": [ { "allele": "G", "end": 499, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 499, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684679.1:n.500-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829630" }, { "coordinates": [ { "allele": "G", "end": 1308, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1308, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.12:c.1111-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS747952" }, { "coordinates": [ { "allele": "G", "end": 410, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 410, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.5:c.142-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000361294.5:n.142-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS750959" }, { "coordinates": [ { "allele": "G", "end": 1653, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1653, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.9:c.1339-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS750961" }, { "coordinates": [ { "allele": "G", "end": 1458, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1458, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.8:c.1273-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000385797.4:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.1273-2A>G" }, "RefSeq": { "hgvs": "NM_001077365.2:c.1273-2A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:n.1273-2A>G" }, "RefSeq": { "hgvs": "NP_001070833.1:n.1273-2A>G" } } } }, { "coordinates": [ { "allele": "G", "end": 1710, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1710, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.1273-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "G", "end": 703, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 703, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.448-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:n.448-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "G", "end": 1007, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1007, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.*488-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.*488-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "G", "end": 1050, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1050, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.817-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:n.817-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "G", "end": 1206, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1206, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.*983-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.*983-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "G", "end": 1219, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1219, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "G", "end": 297, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 297, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677221.1:n.298-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS776884" }, { "coordinates": [ { "allele": "G", "end": 1737, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1737, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.*650-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:n.*650-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "G", "end": 1078, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1078, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677444.1:c.1079-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS777106" }, { "coordinates": [ { "allele": "G", "end": 753, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 753, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.754-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "G", "end": 1087, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1087, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "G", "end": 1232, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1232, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677677.1:n.1233-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS777335" }, { "coordinates": [ { "allele": "G", "end": 1037, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1037, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.*281-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:n.*281-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "G", "end": 534, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 534, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677944.1:c.535-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS777596" }, { "coordinates": [ { "allele": "G", "end": 361, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 361, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677983.1:n.362-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS777633" }, { "coordinates": [ { "allele": "G", "end": 292, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 292, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678202.1:n.293-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS777851" }, { "coordinates": [ { "allele": "G", "end": 1677, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1677, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.*650-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:n.*650-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "G", "end": 1338, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1338, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.1183-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:n.1183-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "G", "end": 1985, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1985, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*1522-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*1522-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "G", "end": 2105, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2105, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.*1218-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:n.*1218-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "G", "end": 1695, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1695, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.*1345-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.*1345-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "G", "end": 969, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 969, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.970-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "G", "end": 353, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 353, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678733.1:c.354-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS778372" }, { "coordinates": [ { "allele": "G", "end": 1889, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1889, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*1599-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*1599-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "G", "end": 359, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 359, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678795.1:n.360-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS778433" }, { "coordinates": [ { "allele": "G", "end": 1334, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1334, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.*720-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:n.*720-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "G", "end": 452, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 452, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678942.1:c.453-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000504690.1:n.453-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778579" }, { "coordinates": [ { "allele": "G", "end": 1280, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1280, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.1111-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "G", "end": 891, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 891, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679076.1:c.892-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS778711" }, { "coordinates": [ { "allele": "G", "end": 1432, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1432, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.1273-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "G", "end": 1050, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1050, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "G", "end": 1306, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1306, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.1111-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "G", "end": 135, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 135, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.4:c.136-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000361294.4:n.136-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS268983" }, { "coordinates": [ { "allele": "G", "end": 1517, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1517, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.1339-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "G", "end": 1432, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1432, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.1273-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "G", "end": 1215, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1215, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.922-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "G", "end": 1714, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1714, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.1273-2A>G" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "G", "end": 1827, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1827, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000485278.5:n.1828-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS324344" }, { "coordinates": [ { "allele": "G", "end": 1474, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1474, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.1273-2A>G" ], "proteinEffect": { "hgvs": "NP_001070833.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "coordinates": [ { "allele": "G", "end": 1322, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1322, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.1111-2A>G" ], "proteinEffect": { "hgvs": "NP_001070834.1:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "coordinates": [ { "allele": "G", "end": 1714, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1714, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.1273-2A>G" ], "proteinEffect": { "hgvs": "NP_001129585.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "G", "end": 1215, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1215, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "G", "end": 1540, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1540, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.1339-2A>G" ], "proteinEffect": { "hgvs": "NP_009102.3:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "G", "end": 1666, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1666, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.1339-2A>G" ], "proteinEffect": { "hgvs": "XP_005272213.1:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "G", "end": 1395, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1395, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.1177-2A>G" ], "proteinEffect": { "hgvs": "XP_005272215.1:n.1177-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "G", "end": 1285, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1285, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.988-2A>G" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.988-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "G", "end": 1670, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1670, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.142-2A>G" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.142-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "G", "end": 1318, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1318, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.988-2A>G" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.988-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "G", "end": 1393, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1393, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.1192-2A>G" ], "proteinEffect": { "hgvs": "XP_011516442.1:n.1192-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "G", "end": 1327, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1327, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.1126-2A>G" ], "proteinEffect": { "hgvs": "XP_011516443.1:n.1126-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "G", "end": 1195, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1195, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.1030-2A>G" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.1030-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "G", "end": 1225, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1225, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.1024-2A>G" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.1024-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "G", "end": 1514, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1514, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.1339-2A>G" ], "proteinEffect": { "hgvs": "XP_011516446.1:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "G", "end": 1061, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1061, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.883-2A>G" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.883-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "G", "end": 1225, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1225, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.1024-2A>G" ], "proteinEffect": { "hgvs": "XP_011516448.1:n.1024-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "G", "end": 316, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 316, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518147.1:c.211-2A>G" ], "proteinEffect": { "hgvs": "XP_011516449.1:n.211-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS085323" }, { "coordinates": [ { "allele": "G", "end": 1514, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1514, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.1515-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "G", "end": 1780, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1780, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.1339-2A>G" ], "proteinEffect": { "hgvs": "NP_001340122.1:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "coordinates": [ { "allele": "G", "end": 1562, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1562, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.1111-2A>G" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "G", "end": 1367, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1367, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "coordinates": [ { "allele": "G", "end": 1384, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1384, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.1183-2A>G" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.1183-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "G", "end": 1388, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1388, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.1177-2A>G" ], "proteinEffect": { "hgvs": "NP_001340126.1:n.1177-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "G", "end": 2089, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2089, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.1177-2A>G" ], "proteinEffect": { "hgvs": "NP_001340127.1:n.1177-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "G", "end": 1281, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1281, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.988-2A>G" ], "proteinEffect": { "hgvs": "NP_001340128.1:n.988-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "coordinates": [ { "allele": "G", "end": 1068, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1068, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.817-2A>G" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.817-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "G", "end": 1322, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1322, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.1323-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "G", "end": 1540, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1540, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.1541-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "G", "end": 1322, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1322, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.1323-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "G", "end": 1215, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1215, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.1216-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "G", "end": 1474, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1474, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.1475-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "G", "end": 1108, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1108, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.1109-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "G", "end": 1372, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1372, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.1373-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "G", "end": 1327, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1327, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.1328-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "G", "end": 1714, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1714, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.1715-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "G", "end": 1313, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1313, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.1314-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "G", "end": 1708, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1708, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.142-2A>G" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.142-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "G", "end": 1318, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1318, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.988-2A>G" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.988-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "G", "end": 1393, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1393, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.1192-2A>G" ], "proteinEffect": { "hgvs": "XP_011516442.1:n.1192-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "G", "end": 1327, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1327, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.1126-2A>G" ], "proteinEffect": { "hgvs": "XP_011516443.1:n.1126-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "G", "end": 1195, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1195, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.1030-2A>G" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.1030-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "G", "end": 1225, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1225, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.1024-2A>G" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.1024-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "G", "end": 1061, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1061, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.883-2A>G" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.883-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "G", "end": 1467, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1467, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.142-2A>G" ], "proteinEffect": { "hgvs": "XP_016869694.1:n.142-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "G", "end": 1050, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1050, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.142-2A>G" ], "proteinEffect": { "hgvs": "XP_024303148.1:n.142-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "G", "end": 1543, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1543, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.448-2A>G" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.448-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "G", "end": 3106, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3106, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.142-2A>G" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.142-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "G", "end": 1442, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1442, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.1443-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "G", "end": 1508, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1508, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.1509-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "G", "end": 1225, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1225, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.1226-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "G", "end": 1659, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1659, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.1660-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "coordinates": [ { "allele": "G", "end": 1458, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1458, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.1273-2A>G" ], "proteinEffect": { "hgvs": "NP_001070833.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.1273-2A>G" }, "RefSeq": { "hgvs": "NM_001077365.2:c.1273-2A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:n.1273-2A>G" }, "RefSeq": { "hgvs": "NP_001070833.1:n.1273-2A>G" } } } }, { "coordinates": [ { "allele": "G", "end": 1306, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1306, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.1111-2A>G" ], "proteinEffect": { "hgvs": "NP_001070834.1:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "coordinates": [ { "allele": "G", "end": 1698, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1698, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.1273-2A>G" ], "proteinEffect": { "hgvs": "NP_001129585.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "G", "end": 1199, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1199, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "coordinates": [ { "allele": "G", "end": 1764, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1764, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.1339-2A>G" ], "proteinEffect": { "hgvs": "NP_001340122.2:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "coordinates": [ { "allele": "G", "end": 1546, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1546, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.1111-2A>G" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.1111-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "G", "end": 1351, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1351, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "coordinates": [ { "allele": "G", "end": 1368, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1368, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.1183-2A>G" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.1183-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "coordinates": [ { "allele": "G", "end": 1372, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1372, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.1177-2A>G" ], "proteinEffect": { "hgvs": "NP_001340126.2:n.1177-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "coordinates": [ { "allele": "G", "end": 2073, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2073, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.1177-2A>G" ], "proteinEffect": { "hgvs": "NP_001340127.2:n.1177-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "G", "end": 1265, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1265, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.988-2A>G" ], "proteinEffect": { "hgvs": "NP_001340128.2:n.988-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "G", "end": 1052, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1052, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.817-2A>G" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.817-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "coordinates": [ { "allele": "G", "end": 1456, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1456, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.1261-2A>G" ], "proteinEffect": { "hgvs": "NP_001361618.1:n.1261-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "coordinates": [ { "allele": "G", "end": 1458, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1458, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.1273-2A>G" ], "proteinEffect": { "hgvs": "NP_001361619.1:n.1273-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "G", "end": 1388, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1388, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001361620.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "G", "end": 1300, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1300, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001361621.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "coordinates": [ { "allele": "G", "end": 1117, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1117, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.922-2A>G" ], "proteinEffect": { "hgvs": "NP_001361622.1:n.922-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "coordinates": [ { "allele": "G", "end": 1219, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1219, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.883-2A>G" ], "proteinEffect": { "hgvs": "NP_001361624.1:n.883-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "coordinates": [ { "allele": "G", "end": 1524, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1524, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.1339-2A>G" ], "proteinEffect": { "hgvs": "NP_009102.4:n.1339-2A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "G", "end": 1306, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1306, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.1307-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "G", "end": 1524, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1524, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.1525-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "G", "end": 1306, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1306, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.1307-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "G", "end": 1199, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1199, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.1200-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "G", "end": 1458, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1458, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.1459-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "G", "end": 1092, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1092, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.1093-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "G", "end": 1356, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1356, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.1357-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "G", "end": 1311, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1311, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.1312-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "G", "end": 1698, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1698, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.1699-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "G", "end": 1297, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1297, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.1298-2A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }