{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5293454", "communityStandardTitle": [ "NM_001077365.2(POMT1):c.855+6T>C" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=372355[alleleid]", "alleleId": 372355, "preferredName": "NM_001077365.2(POMT1):c.855+6T>C" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/385971", "RCV": [ "RCV000419700", "RCV000726765", "RCV001051349", "RCV004539854" ], "variationId": 385971 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-134385808-T-C", "id": "9-134385808-T-C", "variant": "9:134385808 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.134385808T>C?assembly=hg19", "id": "chr9:g.134385808T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.131510421T>C?assembly=hg38", "id": "chr9:g.131510421T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200692465", "rs": 200692465 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-134385808-T-C?dataset=gnomad_r2_1", "id": "9-134385808-T-C", "variant": "9:134385808 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131510421-T-C?dataset=gnomad_r3", "id": "9-131510421-T-C", "variant": "9:131510421 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131510421-T-C?dataset=gnomad_r4", "id": "9-131510421-T-C", "variant": "9:131510421 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 131510421, "referenceAllele": "T", "start": 131510420 } ], "hgvs": [ "NC_000009.12:g.131510421T>C", "CM000671.2:g.131510421T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134385808, "referenceAllele": "T", "start": 134385807 } ], "hgvs": [ "NC_000009.11:g.134385808T>C", "CM000671.1:g.134385808T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 133375629, "referenceAllele": "T", "start": 133375628 } ], "hgvs": [ "NC_000009.10:g.133375629T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 12520, "referenceAllele": "T", "start": 12519 } ], "hgvs": [ "NG_008896.1:g.12520T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001288" }, { "coordinates": [ { "allele": "C", "end": 12520, "referenceAllele": "T", "start": 12519 } ], "hgvs": [ "NG_008896.2:g.12520T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS733319" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 912, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 912, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.13:c.693+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS824001" }, { "coordinates": [ { "allele": "C", "end": 1227, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1227, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.7:n.1227+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS824581" }, { "coordinates": [ { "allele": "C", "end": 912, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 912, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.6:c.912+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.2:n.912+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS824722" }, { "coordinates": [ { "allele": "C", "end": 1414, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1414, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.2:c.*1194+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.2:n.*1194+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826930" }, { "coordinates": [ { "allele": "C", "end": 1945, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1945, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.2:c.*1038+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.2:n.*1038+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826933" }, { "coordinates": [ { "allele": "C", "end": 973, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 973, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678942.2:c.*408+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504690.2:n.*408+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826937" }, { "coordinates": [ { "allele": "C", "end": 1315, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1315, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682070.1:n.1315+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827068" }, { "coordinates": [ { "allele": "C", "end": 1120, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1120, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682813.1:n.1120+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827801" }, { "coordinates": [ { "allele": "C", "end": 222, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 222, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683134.1:c.222+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828119" }, { "coordinates": [ { "allele": "C", "end": 3602, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 3602, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683392.1:n.3602+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828371" }, { "coordinates": [ { "allele": "C", "end": 1255, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1255, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683712.1:n.1255+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828683" }, { "coordinates": [ { "allele": "C", "end": 2182, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 2182, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683900.1:n.2182+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828866" }, { "coordinates": [ { "allele": "C", "end": 1521, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1521, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684062.1:n.1521+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829021" }, { "coordinates": [ { "allele": "C", "end": 2696, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 2696, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684579.1:n.2696+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829531" }, { "coordinates": [ { "allele": "C", "end": 891, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 891, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.12:c.693+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS747952" }, { "coordinates": [ { "allele": "C", "end": 124, "endIntronDirection": "-", "endIntronOffset": 1619, "referenceAllele": "T", "start": 124, "startIntronDirection": "-", "startIntronOffset": 1620 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.5:c.-145-1620T>C" ], "proteinEffect": { "hgvs": "ENSP00000361294.5:n.-145-1620T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS750959" }, { "coordinates": [ { "allele": "C", "end": 1236, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1236, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.9:c.921+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS750961" }, { "coordinates": [ { "allele": "C", "end": 1041, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1041, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.8:c.855+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.4:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.855+6T>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.855+6T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:n.855+6T>C" }, "RefSeq": { "hgvs": "NP_001070833.1:n.855+6T>C" } } } }, { "coordinates": [ { "allele": "C", "end": 624, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 624, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.6:c.*308+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000405149.2:n.*308+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS754596" }, { "coordinates": [ { "allele": "C", "end": 1293, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1293, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.855+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "C", "end": 286, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 286, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.30+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:n.30+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "C", "end": 585, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 585, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.*65+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.*65+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "C", "end": 633, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 633, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.399+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:n.399+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "C", "end": 789, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 789, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.*565+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.*565+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "C", "end": 802, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 802, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.504+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "C", "end": 188, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 188, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677293.1:c.30+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504278.1:n.30+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776956" }, { "coordinates": [ { "allele": "C", "end": 1315, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1315, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.*227+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:n.*227+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "C", "end": 661, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 661, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677444.1:c.661+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777106" }, { "coordinates": [ { "allele": "C", "end": 336, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 336, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.336+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "C", "end": 859, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 859, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.693+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "C", "end": 815, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 815, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677677.1:n.815+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777335" }, { "coordinates": [ { "allele": "C", "end": 620, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 620, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.436+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:n.436+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "C", "end": 117, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 117, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677944.1:c.117+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777596" }, { "coordinates": [ { "allele": "C", "end": 1255, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1255, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.*227+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:n.*227+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "C", "end": 921, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 921, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.765+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:n.765+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "C", "end": 1568, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1568, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*1104+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*1104+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "C", "end": 1115, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1115, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.*227+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:n.*227+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "C", "end": 1273, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1273, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.*922+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.*922+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "C", "end": 547, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 547, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.547+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "C", "end": 493, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 493, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678707.1:n.493+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778346" }, { "coordinates": [ { "allele": "C", "end": 29, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 29, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678733.1:c.29+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778372" }, { "coordinates": [ { "allele": "C", "end": 1467, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1467, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*1176+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*1176+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "C", "end": 917, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 917, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.*302+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:n.*302+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "C", "end": 30, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 30, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678942.1:c.30+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504690.1:n.30+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778579" }, { "coordinates": [ { "allele": "C", "end": 863, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 863, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.693+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "C", "end": 233, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 233, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679073.1:c.233+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504356.1:n.233+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778708" }, { "coordinates": [ { "allele": "C", "end": 469, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 469, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679076.1:c.469+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778711" }, { "coordinates": [ { "allele": "C", "end": 1015, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1015, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.855+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "C", "end": 633, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 633, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.504+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "C", "end": 889, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 889, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.693+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "C", "end": 1100, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1100, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.921+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "C", "end": 1015, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1015, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.855+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "C", "end": 798, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 798, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.504+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "C", "end": 624, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 624, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000415075.5:c.247+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000405149.1:n.247+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS283826" }, { "coordinates": [ { "allele": "C", "end": 1297, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1297, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.855+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "C", "end": 848, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 848, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000441334.5:c.570+6T>C" ], "proteinEffect": { "hgvs": "ENSP00000395060.1:n.570+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS296347" }, { "coordinates": [ { "allele": "C", "end": 676, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 676, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000462375.5:n.676+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS306647" }, { "coordinates": [ { "allele": "C", "end": 1057, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1057, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.855+6T>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "coordinates": [ { "allele": "C", "end": 905, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 905, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.693+6T>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "coordinates": [ { "allele": "C", "end": 1297, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1297, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.855+6T>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "coordinates": [ { "allele": "C", "end": 798, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 798, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.504+6T>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "coordinates": [ { "allele": "C", "end": 1123, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1123, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.921+6T>C" ], "proteinEffect": { "hgvs": "NP_009102.3:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "C", "end": 1249, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1249, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.921+6T>C" ], "proteinEffect": { "hgvs": "XP_005272213.1:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "C", "end": 978, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 978, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.759+6T>C" ], "proteinEffect": { "hgvs": "XP_005272215.1:n.759+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "C", "end": 868, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 868, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.570+6T>C" ], "proteinEffect": { "hgvs": "XP_005272216.1:n.570+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "C", "end": 1248, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1248, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.-282+6T>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-282+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "C", "end": 901, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 901, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.570+6T>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.570+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "C", "end": 976, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 976, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.774+6T>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:n.774+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "C", "end": 910, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 910, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.708+6T>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:n.708+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "C", "end": 778, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 778, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.612+6T>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.612+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "C", "end": 803, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 803, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.601+6T>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.601+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "C", "end": 1097, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1097, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518144.1:c.921+6T>C" ], "proteinEffect": { "hgvs": "XP_011516446.1:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085320" }, { "coordinates": [ { "allele": "C", "end": 644, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 644, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.465+6T>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.465+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "C", "end": 803, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 803, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518146.1:c.601+6T>C" ], "proteinEffect": { "hgvs": "XP_011516448.1:n.601+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS085322" }, { "coordinates": [ { "allele": "C", "end": 1097, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1097, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.1097+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "C", "end": 1363, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1363, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.921+6T>C" ], "proteinEffect": { "hgvs": "NP_001340122.1:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "coordinates": [ { "allele": "C", "end": 1145, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1145, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.693+6T>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "coordinates": [ { "allele": "C", "end": 950, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 950, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.504+6T>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "coordinates": [ { "allele": "C", "end": 967, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 967, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.765+6T>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.765+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "C", "end": 971, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 971, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.759+6T>C" ], "proteinEffect": { "hgvs": "NP_001340126.1:n.759+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "C", "end": 1672, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1672, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.759+6T>C" ], "proteinEffect": { "hgvs": "NP_001340127.1:n.759+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "C", "end": 864, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 864, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.570+6T>C" ], "proteinEffect": { "hgvs": "NP_001340128.1:n.570+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "coordinates": [ { "allele": "C", "end": 651, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 651, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.399+6T>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.399+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "C", "end": 905, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 905, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.905+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "C", "end": 1123, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1123, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.1123+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "C", "end": 905, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 905, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.905+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "C", "end": 793, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 793, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.793+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "C", "end": 1057, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1057, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.1057+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "C", "end": 686, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 686, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.686+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "C", "end": 950, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 950, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.950+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "C", "end": 905, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 905, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.905+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "C", "end": 1297, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1297, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.1297+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "C", "end": 891, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 891, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.891+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "C", "end": 1286, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1286, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.-282+6T>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:n.-282+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "C", "end": 901, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 901, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.570+6T>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:n.570+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "C", "end": 976, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 976, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.774+6T>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:n.774+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "C", "end": 910, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 910, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.708+6T>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:n.708+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "C", "end": 778, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 778, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.612+6T>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:n.612+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "C", "end": 803, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 803, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.601+6T>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:n.601+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "C", "end": 644, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 644, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.465+6T>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:n.465+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "C", "end": 1045, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1045, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.-282+6T>C" ], "proteinEffect": { "hgvs": "XP_016869694.1:n.-282+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "C", "end": 628, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 628, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.-282+6T>C" ], "proteinEffect": { "hgvs": "XP_024303148.1:n.-282+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "C", "end": 1126, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1126, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.30+6T>C" ], "proteinEffect": { "hgvs": "XP_024303149.1:n.30+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "C", "end": 2684, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 2684, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.-282+6T>C" ], "proteinEffect": { "hgvs": "XP_024303150.1:n.-282+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "C", "end": 1025, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1025, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.1025+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "C", "end": 1091, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1091, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.1091+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "C", "end": 803, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 803, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.803+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "C", "end": 1242, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1242, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.1242+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "coordinates": [ { "allele": "C", "end": 1041, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1041, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.855+6T>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.855+6T>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.855+6T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:n.855+6T>C" }, "RefSeq": { "hgvs": "NP_001070833.1:n.855+6T>C" } } } }, { "coordinates": [ { "allele": "C", "end": 889, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 889, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.693+6T>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "coordinates": [ { "allele": "C", "end": 1281, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1281, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.855+6T>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "coordinates": [ { "allele": "C", "end": 782, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 782, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.504+6T>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "coordinates": [ { "allele": "C", "end": 1347, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1347, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.921+6T>C" ], "proteinEffect": { "hgvs": "NP_001340122.2:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "coordinates": [ { "allele": "C", "end": 1129, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1129, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.693+6T>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "coordinates": [ { "allele": "C", "end": 934, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 934, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.504+6T>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "coordinates": [ { "allele": "C", "end": 951, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 951, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.765+6T>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:n.765+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "coordinates": [ { "allele": "C", "end": 955, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 955, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.759+6T>C" ], "proteinEffect": { "hgvs": "NP_001340126.2:n.759+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "coordinates": [ { "allele": "C", "end": 1656, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1656, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.759+6T>C" ], "proteinEffect": { "hgvs": "NP_001340127.2:n.759+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "coordinates": [ { "allele": "C", "end": 848, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 848, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.570+6T>C" ], "proteinEffect": { "hgvs": "NP_001340128.2:n.570+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "coordinates": [ { "allele": "C", "end": 635, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 635, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.399+6T>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:n.399+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "coordinates": [ { "allele": "C", "end": 1034, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1034, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.838+6T>C" ], "proteinEffect": { "hgvs": "NP_001361618.1:n.838+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "coordinates": [ { "allele": "C", "end": 1041, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1041, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.855+6T>C" ], "proteinEffect": { "hgvs": "NP_001361619.1:n.855+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "coordinates": [ { "allele": "C", "end": 971, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 971, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.504+6T>C" ], "proteinEffect": { "hgvs": "NP_001361620.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "coordinates": [ { "allele": "C", "end": 883, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 883, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.504+6T>C" ], "proteinEffect": { "hgvs": "NP_001361621.1:n.504+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "coordinates": [ { "allele": "C", "end": 889, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 889, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.693+6T>C" ], "proteinEffect": { "hgvs": "NP_001361622.1:n.693+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "coordinates": [ { "allele": "C", "end": 802, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 802, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.465+6T>C" ], "proteinEffect": { "hgvs": "NP_001361624.1:n.465+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "coordinates": [ { "allele": "C", "end": 1107, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1107, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.921+6T>C" ], "proteinEffect": { "hgvs": "NP_009102.4:n.921+6T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "C", "end": 889, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 889, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.889+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "C", "end": 1107, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1107, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.1107+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "C", "end": 889, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 889, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.889+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "C", "end": 777, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 777, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.777+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "C", "end": 1041, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1041, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.1041+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "C", "end": 670, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 670, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.670+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "C", "end": 934, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 934, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.934+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "C", "end": 889, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 889, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.889+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "C", "end": 1281, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 1281, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.1281+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "C", "end": 875, "endIntronDirection": "+", "endIntronOffset": 6, "referenceAllele": "T", "start": 875, "startIntronDirection": "+", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.875+6T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }