{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10377562", "communityStandardTitle": [ "NM_004006.3(DMD):c.10608G>A (p.Leu3536=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490376[alleleid]", "alleleId": 490376, "preferredName": "NM_004006.3(DMD):c.10608G>A (p.Leu3536=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498952", "RCV": [ "RCV000591316", "RCV001414365", "RCV001835866" ], "variationId": 498952 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-31165581-C-T", "id": "X-31165581-C-T", "variant": "X:31165581 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31165581C>T?assembly=hg19", "id": "chrX:g.31165581C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31147464C>T?assembly=hg38", "id": "chrX:g.31147464C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/773786369", "rs": 773786369 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31165581-C-T?dataset=gnomad_r2_1", "id": "X-31165581-C-T", "variant": "X:31165581 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31147464-C-T?dataset=gnomad_r4", "id": "X-31147464-C-T", "variant": "X:31147464 C / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31147464, "referenceAllele": "C", "start": 31147463 } ], "hgvs": [ "NC_000023.11:g.31147464C>T", "CM000685.2:g.31147464C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31165581, "referenceAllele": "C", "start": 31165580 } ], "hgvs": [ "NC_000023.10:g.31165581C>T", "CM000685.1:g.31165581C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31075502, "referenceAllele": "C", "start": 31075501 } ], "hgvs": [ "NC_000023.9:g.31075502C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 2197146, "referenceAllele": "G", "start": 2197145 } ], "hgvs": [ "NG_012232.1:g.2197146G>A", "LRG_199:g.2197146G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5415, "referenceAllele": "G", "start": 5414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.5415G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Leu1805=" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "G", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.2:c.1299G>A" ], "proteinEffect": { "hgvs": "ENSP00000506634.2:p.Leu433=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826946" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "G", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.2:c.1365G>A" ], "proteinEffect": { "hgvs": "ENSP00000506359.2:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826950" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681989.1:n.1406G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826989" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682207.1:n.728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827203" }, { "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.2898G>A" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Leu966=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "G", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682322.1:c.1299G>A" ], "proteinEffect": { "hgvs": "ENSP00000507690.1:p.Leu433=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827314" }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "G", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682600.1:c.1365G>A" ], "proteinEffect": { "hgvs": "ENSP00000507640.1:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827590" }, { "coordinates": [ { "allele": "A", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682769.1:n.1200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827758" }, { "coordinates": [ { "allele": "A", "end": 2423, "referenceAllele": "G", "start": 2422 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683503.1:n.2423G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828477" }, { "coordinates": [ { "allele": "A", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683509.1:n.2086G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828483" }, { "coordinates": [ { "allele": "A", "end": 1707, "referenceAllele": "G", "start": 1706 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683675.1:n.1707G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828646" }, { "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "G", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683709.1:n.2087G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828680" }, { "coordinates": [ { "allele": "A", "end": 4061, "referenceAllele": "G", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.4061G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "G", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683995.1:n.753G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828958" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684072.1:n.837G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829031" }, { "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "G", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684103.1:n.1016G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829062" }, { "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "G", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.3189G>A" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Leu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684342.1:n.1652G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829297" }, { "coordinates": [ { "allele": "A", "end": 2423, "referenceAllele": "G", "start": 2422 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684350.1:n.2423G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829305" }, { "coordinates": [ { "allele": "A", "end": 2665, "referenceAllele": "G", "start": 2664 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.2463G>A" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.Leu821=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "A", "end": 10845, "referenceAllele": "G", "start": 10844 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.10608G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Leu3536=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.10608G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.10608G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Leu3536=" }, "RefSeq": { "hgvs": "NP_003997.2:p.Leu3536=" } } } }, { "coordinates": [ { "allele": "A", "end": 6756, "referenceAllele": "G", "start": 6755 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.6576G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Leu2192=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "G", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.3189G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Leu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679437.1:c.270G>A" ], "proteinEffect": { "hgvs": "ENSP00000506629.1:p.Leu90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS779068" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679641.1:c.*280G>A" ], "proteinEffect": { "hgvs": "ENSP00000506135.1:n.*280G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779269" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "G", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679706.1:c.235G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779333" }, { "coordinates": [ { "allele": "A", "end": 5619, "referenceAllele": "G", "start": 5618 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679850.1:n.5619G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779472" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.1:c.1281G>A" ], "proteinEffect": { "hgvs": "ENSP00000506634.1:p.Leu427=" }, "referenceSequence": "http://reg.genome.network/refseq/RS779782" }, { "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680355.1:c.1074G>A" ], "proteinEffect": { "hgvs": "ENSP00000506257.1:p.Leu358=" }, "referenceSequence": "http://reg.genome.network/refseq/RS779973" }, { "coordinates": [ { "allele": "A", "end": 722, "endIntronDirection": "-", "endIntronOffset": 13269, "referenceAllele": "G", "start": 722, "startIntronDirection": "-", "startIntronOffset": 13270 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680557.1:c.604-13270G>A" ], "proteinEffect": { "hgvs": "ENSP00000505164.1:n.604-13270G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780172" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680701.1:n.383G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780316" }, { "coordinates": [ { "allele": "A", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.1:c.1308G>A" ], "proteinEffect": { "hgvs": "ENSP00000506359.1:p.Leu436=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780383" }, { "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.*571G>A" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:n.*571G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681026.1:c.270G>A" ], "proteinEffect": { "hgvs": "ENSP00000506689.1:p.Leu90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780639" }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "G", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681153.1:c.1365G>A" ], "proteinEffect": { "hgvs": "ENSP00000505124.1:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780765" }, { "coordinates": [ { "allele": "A", "end": 2482, "referenceAllele": "G", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.2421G>A" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.Leu807=" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "A", "end": 10815, "referenceAllele": "G", "start": 10814 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.10608G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Leu3536=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "A", "end": 3657, "referenceAllele": "G", "start": 3656 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.3657G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Leu1219=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "G", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.3189G>A" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Leu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000361471.8:c.1365G>A" ], "proteinEffect": { "hgvs": "ENSP00000354464.4:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265493" }, { "coordinates": [ { "allele": "A", "end": 10791, "referenceAllele": "G", "start": 10790 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.10596G>A" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Leu3532=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "A", "end": 1194, "referenceAllele": "G", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378680.6:c.1074G>A" ], "proteinEffect": { "hgvs": "ENSP00000367951.2:p.Leu358=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272148" }, { "coordinates": [ { "allele": "A", "end": 1432, "referenceAllele": "G", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378702.8:c.1404G>A" ], "proteinEffect": { "hgvs": "ENSP00000367974.4:p.Leu468=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272160" }, { "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "G", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.3228G>A" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Leu1076=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378723.7:c.1404G>A" ], "proteinEffect": { "hgvs": "ENSP00000367997.3:p.Leu468=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272172" }, { "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "G", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.3228G>A" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Leu1076=" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "A", "end": 114, "endIntronDirection": "+", "endIntronOffset": 21979, "referenceAllele": "G", "start": 114, "startIntronDirection": "+", "startIntronOffset": 21978 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000481143.2:n.114+21979G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321137" }, { "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.2898G>A" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Leu966=" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "A", "end": 10593, "referenceAllele": "G", "start": 10592 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.10593G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Leu3531=" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "A", "end": 10605, "referenceAllele": "G", "start": 10604 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.10605G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Leu3535=" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "A", "end": 10928, "referenceAllele": "G", "start": 10927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.10584G>A" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Leu3528=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "coordinates": [ { "allele": "A", "end": 10852, "referenceAllele": "G", "start": 10851 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.10608G>A", "LRG_199t1:c.10608G>A" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Leu3536=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829494242", "coordinates": [ { "allele": "A", "end": 10859, "referenceAllele": "G", "start": 10858 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.10596G>A" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Leu3532=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829499288", "coordinates": [ { "allele": "A", "end": 10942, "referenceAllele": "G", "start": 10941 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.10239G>A" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Leu3413=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "A", "end": 6630, "referenceAllele": "G", "start": 6629 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.6585G>A" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Leu2195=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "A", "end": 6773, "referenceAllele": "G", "start": 6772 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.6576G>A" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Leu2192=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "G", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.3228G>A" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Leu1076=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "A", "end": 2482, "referenceAllele": "G", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.2421G>A" ], "proteinEffect": { "hgvs": "NP_004005.1:p.Leu807=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "@id": "http://reg.genome.network/allele/PA2829506148", "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.2:c.1404G>A" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Leu468=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029210" }, { "@id": "http://reg.genome.network/allele/PA2829506686", "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.2:c.1404G>A" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Leu468=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029211" }, { "@id": "http://reg.genome.network/allele/PA2829507197", "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.2:c.1365G>A" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029212" }, { "@id": "http://reg.genome.network/allele/PA2829507713", "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.2:c.1365G>A" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029213" }, { "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.2898G>A" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Leu966=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "G", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.3228G>A" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Leu1076=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "G", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.3189G>A" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Leu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.2898G>A" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Leu966=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "A", "end": 10805, "referenceAllele": "G", "start": 10804 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.10608G>A" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Leu3536=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "A", "end": 10687, "referenceAllele": "G", "start": 10686 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.10584G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Leu3528=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "A", "end": 10766, "referenceAllele": "G", "start": 10765 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.10569G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Leu3523=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "A", "end": 10700, "referenceAllele": "G", "start": 10699 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.10503G>A" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Leu3501=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "A", "end": 10676, "referenceAllele": "G", "start": 10675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.10479G>A" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Leu3493=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "A", "end": 10667, "referenceAllele": "G", "start": 10666 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.10470G>A" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Leu3490=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "A", "end": 10475, "referenceAllele": "G", "start": 10474 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.10278G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Leu3426=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "A", "end": 10475, "referenceAllele": "G", "start": 10474 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.10278G>A" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Leu3426=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "A", "end": 10682, "referenceAllele": "G", "start": 10681 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.10485G>A" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Leu3495=" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "A", "end": 10779, "referenceAllele": "G", "start": 10778 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.10584G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Leu3528=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "A", "end": 10766, "referenceAllele": "G", "start": 10765 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.10569G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Leu3523=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "A", "end": 10475, "referenceAllele": "G", "start": 10474 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.10278G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Leu3426=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "A", "end": 10766, "referenceAllele": "G", "start": 10765 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.10569G>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Leu3523=" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 5381, "referenceAllele": "G", "start": 5380 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.4782G>A" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Leu1594=" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825075039", "coordinates": [ { "allele": "A", "end": 10707, "referenceAllele": "G", "start": 10706 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.10584G>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Leu3528=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829487897", "coordinates": [ { "allele": "A", "end": 10845, "referenceAllele": "G", "start": 10844 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.10608G>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Leu3536=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.10608G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.10608G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Leu3536=" }, "RefSeq": { "hgvs": "NP_003997.2:p.Leu3536=" } } } }, { "@id": "http://reg.genome.network/allele/PA2829501031", "coordinates": [ { "allele": "A", "end": 6604, "referenceAllele": "G", "start": 6603 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.6585G>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Leu2195=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829503621", "coordinates": [ { "allele": "A", "end": 6747, "referenceAllele": "G", "start": 6746 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.6576G>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Leu2192=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829506148", "coordinates": [ { "allele": "A", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.3:c.1404G>A" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Leu468=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696017" }, { "@id": "http://reg.genome.network/allele/PA2829506686", "coordinates": [ { "allele": "A", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.3:c.1404G>A" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Leu468=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696018" }, { "@id": "http://reg.genome.network/allele/PA2829507197", "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.3:c.1365G>A" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696019" }, { "@id": "http://reg.genome.network/allele/PA2829507713", "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.3:c.1365G>A" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Leu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696020" }, { "@id": "http://reg.genome.network/allele/PA2829510309", "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "G", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.3228G>A" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Leu1076=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA2829512173", "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.2898G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Leu966=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504831", "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "G", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.3228G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Leu1076=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829505670", "coordinates": [ { "allele": "A", "end": 2480, "referenceAllele": "G", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.2421G>A" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Leu807=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "@id": "http://reg.genome.network/allele/PA2829509126", "coordinates": [ { "allele": "A", "end": 3939, "referenceAllele": "G", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.2898G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Leu966=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829511491", "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "G", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.3189G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Leu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }