{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412651672", "communityStandardTitle": [ "NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577955[alleleid]", "alleleId": 577955, "preferredName": "NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/585779", "RCV": [ "RCV000711448", "RCV001861962" ], "variationId": 585779 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31187567C>A?assembly=hg19", "id": "chrX:g.31187567C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31169450C>A?assembly=hg38", "id": "chrX:g.31169450C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1569401103", "rs": 1569401103 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31169450, "referenceAllele": "C", "start": 31169449 } ], "hgvs": [ "NC_000023.11:g.31169450C>A", "CM000685.2:g.31169450C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31187567, "referenceAllele": "C", "start": 31187566 } ], "hgvs": [ "NC_000023.10:g.31187567C>A", "CM000685.1:g.31187567C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31097488, "referenceAllele": "C", "start": 31097487 } ], "hgvs": [ "NC_000023.9:g.31097488C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 2175160, "referenceAllele": "G", "start": 2175159 } ], "hgvs": [ "NG_012232.1:g.2175160G>T", "LRG_199:g.2175160G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5353, "referenceAllele": "G", "start": 5352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.5353G>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Glu1785Ter", "hgvsWellDefined": "ENSP00000350765.3:p.Glu1785_Glu1972delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.2:c.1237G>T" ], "proteinEffect": { "hgvs": "ENSP00000506634.2:p.Glu413Ter", "hgvsWellDefined": "ENSP00000506634.2:p.Glu413_Glu600delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826946" }, { "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.2:c.1303G>T" ], "proteinEffect": { "hgvs": "ENSP00000506359.2:p.Glu435Ter", "hgvsWellDefined": "ENSP00000506359.2:p.Glu435_Met584delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826950" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681989.1:n.1344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826989" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682207.1:n.666G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827203" }, { "coordinates": [ { "allele": "T", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.2843+9219G>T" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:n.2843+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682322.1:c.1237G>T" ], "proteinEffect": { "hgvs": "ENSP00000507690.1:p.Glu413Ter", "hgvsWellDefined": "ENSP00000507690.1:p.Glu413_Met582delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827314" }, { "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682600.1:c.1303G>T" ], "proteinEffect": { "hgvs": "ENSP00000507640.1:p.Glu435Ter", "hgvsWellDefined": "ENSP00000507640.1:p.Glu435_Met604delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827590" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682769.1:n.1138G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827758" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683503.1:n.2361G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828477" }, { "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683509.1:n.2024G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828483" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683675.1:n.1645G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828646" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "G", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683709.1:n.2025G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828680" }, { "coordinates": [ { "allele": "T", "end": 3999, "referenceAllele": "G", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.3999G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683995.1:n.691G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828958" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684072.1:n.775G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829031" }, { "coordinates": [ { "allele": "T", "end": 4168, "referenceAllele": "G", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.3127G>T" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Glu1043Ter", "hgvsWellDefined": "ENSP00000508037.1:p.Glu1043_Met1212delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684342.1:n.1590G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829297" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684350.1:n.2361G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829305" }, { "coordinates": [ { "allele": "T", "end": 2603, "referenceAllele": "G", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.2401G>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.Glu801Ter", "hgvsWellDefined": "ENSP00000340057.4:p.Glu801_Met970delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "T", "end": 10783, "referenceAllele": "G", "start": 10782 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.10546G>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu3516Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Glu3516_Met3685delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.10546G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.10546G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu3516Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu3516Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6694, "referenceAllele": "G", "start": 6693 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.6514G>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Glu2172Ter", "hgvsWellDefined": "ENSP00000479270.2:p.Glu2172_Met2341delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "T", "end": 4168, "referenceAllele": "G", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.3127G>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Glu1043Ter", "hgvsWellDefined": "ENSP00000478150.2:p.Glu1043_Glu1154delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLysLysTyrProTrpLysAlaAsnGluArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679437.1:c.208G>T" ], "proteinEffect": { "hgvs": "ENSP00000506629.1:p.Glu70Ter", "hgvsWellDefined": "ENSP00000506629.1:p.Glu70_Glu257delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779068" }, { "coordinates": [ { "allele": "T", "end": 986, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 986, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679641.1:c.*225+9219G>T" ], "proteinEffect": { "hgvs": "ENSP00000506135.1:n.*225+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779269" }, { "coordinates": [ { "allele": "T", "end": 180, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 180, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679706.1:c.180+9219G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779333" }, { "coordinates": [ { "allele": "T", "end": 5557, "referenceAllele": "G", "start": 5556 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679850.1:n.5557G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779472" }, { "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "G", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.1:c.1219G>T" ], "proteinEffect": { "hgvs": "ENSP00000506634.1:p.Glu407Ter", "hgvsWellDefined": "ENSP00000506634.1:p.Glu407_Glu594delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779782" }, { "coordinates": [ { "allele": "T", "end": 1157, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 1157, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680355.1:c.1019+9219G>T" ], "proteinEffect": { "hgvs": "ENSP00000506257.1:n.1019+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779973" }, { "coordinates": [ { "allele": "T", "end": 722, "endIntronDirection": "+", "endIntronOffset": 34511, "referenceAllele": "G", "start": 722, "startIntronDirection": "+", "startIntronOffset": 34510 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680557.1:c.603+34511G>T" ], "proteinEffect": { "hgvs": "ENSP00000505164.1:n.603+34511G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780172" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680701.1:n.321G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780316" }, { "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.1:c.1246G>T" ], "proteinEffect": { "hgvs": "ENSP00000506359.1:p.Glu416Ter", "hgvsWellDefined": "ENSP00000506359.1:p.Glu416_Glu603delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780383" }, { "coordinates": [ { "allele": "T", "end": 4001, "referenceAllele": "G", "start": 4000 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.*509G>T" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:n.*509G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681026.1:c.208G>T" ], "proteinEffect": { "hgvs": "ENSP00000506689.1:p.Glu70Ter", "hgvsWellDefined": "ENSP00000506689.1:p.Glu70_Glu257delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780639" }, { "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681153.1:c.1303G>T" ], "proteinEffect": { "hgvs": "ENSP00000505124.1:p.Glu435Ter", "hgvsWellDefined": "ENSP00000505124.1:p.Glu435_Arg594delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgAlaSerIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780765" }, { "coordinates": [ { "allele": "T", "end": 2420, "referenceAllele": "G", "start": 2419 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.2359G>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.Glu787Ter", "hgvsWellDefined": "ENSP00000340057.3:p.Glu787_Met956delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "T", "end": 10753, "referenceAllele": "G", "start": 10752 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.10546G>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu3516Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Glu3516_Met3685delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "T", "end": 3595, "referenceAllele": "G", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.3595G>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Glu1199Ter", "hgvsWellDefined": "ENSP00000350765.2:p.Glu1199_Glu1386delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "T", "end": 4168, "referenceAllele": "G", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.3127G>T" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Glu1043Ter", "hgvsWellDefined": "ENSP00000352894.1:p.Glu1043_Glu1230delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000361471.8:c.1303G>T" ], "proteinEffect": { "hgvs": "ENSP00000354464.4:p.Glu435Ter", "hgvsWellDefined": "ENSP00000354464.4:p.Glu435_Glu622delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265493" }, { "coordinates": [ { "allele": "T", "end": 10729, "referenceAllele": "G", "start": 10728 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.10534G>T" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Glu3512Ter", "hgvsWellDefined": "ENSP00000367948.2:p.Glu3512_Met3681delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "T", "end": 1139, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 1139, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378680.6:c.1019+9219G>T" ], "proteinEffect": { "hgvs": "ENSP00000367951.2:n.1019+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS272148" }, { "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "G", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378702.8:c.1342G>T" ], "proteinEffect": { "hgvs": "ENSP00000367974.4:p.Glu448Ter", "hgvsWellDefined": "ENSP00000367974.4:p.Glu448_Met617delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272160" }, { "coordinates": [ { "allele": "T", "end": 4207, "referenceAllele": "G", "start": 4206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.3166G>T" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Glu1056Ter", "hgvsWellDefined": "ENSP00000367979.3:p.Glu1056_Met1225delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378723.7:c.1342G>T" ], "proteinEffect": { "hgvs": "ENSP00000367997.3:p.Glu448Ter", "hgvsWellDefined": "ENSP00000367997.3:p.Glu448_Glu635delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272172" }, { "coordinates": [ { "allele": "T", "end": 4207, "referenceAllele": "G", "start": 4206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.3166G>T" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Glu1056Ter", "hgvsWellDefined": "ENSP00000417123.1:p.Glu1056_Glu1243delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "T", "end": 107, "referenceAllele": "G", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000481143.2:n.107G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321137" }, { "coordinates": [ { "allele": "T", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.2843+9219G>T" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:n.2843+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "T", "end": 10531, "referenceAllele": "G", "start": 10530 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.10531G>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Glu3511Ter", "hgvsWellDefined": "ENSP00000479270.1:p.Glu3511_Met3680delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "T", "end": 10543, "referenceAllele": "G", "start": 10542 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.10543G>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Glu3515Ter", "hgvsWellDefined": "ENSP00000478150.1:p.Glu3515_Met3684delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "T", "end": 10866, "referenceAllele": "G", "start": 10865 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.10522G>T" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Glu3508Ter", "hgvsWellDefined": "NP_000100.2:p.Glu3508_Met3677delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA891852936", "coordinates": [ { "allele": "T", "end": 10790, "referenceAllele": "G", "start": 10789 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.10546G>T", "LRG_199t1:c.10546G>T" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Glu3516Ter", "hgvsWellDefined": "NP_003997.1:p.Glu3516_Met3685delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829494215", "coordinates": [ { "allele": "T", "end": 10797, "referenceAllele": "G", "start": 10796 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.10534G>T" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Glu3512Ter", "hgvsWellDefined": "NP_004000.1:p.Glu3512_Met3681delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829499270", "coordinates": [ { "allele": "T", "end": 10880, "referenceAllele": "G", "start": 10879 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.10177G>T" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Glu3393Ter", "hgvsWellDefined": "NP_004001.1:p.Glu3393_Met3562delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "T", "end": 6568, "referenceAllele": "G", "start": 6567 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.6523G>T" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Glu2175Ter", "hgvsWellDefined": "NP_004002.2:p.Glu2175_Met2344delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "T", "end": 6711, "referenceAllele": "G", "start": 6710 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.6514G>T" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Glu2172Ter", "hgvsWellDefined": "NP_004003.1:p.Glu2172_Met2341delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "T", "end": 4207, "referenceAllele": "G", "start": 4206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.3166G>T" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Glu1056Ter", "hgvsWellDefined": "NP_004004.1:p.Glu1056_Met1225delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "@id": "http://reg.genome.network/allele/PA916002300", "coordinates": [ { "allele": "T", "end": 2420, "referenceAllele": "G", "start": 2419 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.2359G>T" ], "proteinEffect": { "hgvs": "NP_004005.1:p.Glu787Ter", "hgvsWellDefined": "NP_004005.1:p.Glu787_Met956delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "@id": "http://reg.genome.network/allele/PA2829506130", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "G", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.2:c.1342G>T" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Glu448Ter", "hgvsWellDefined": "NP_004006.1:p.Glu448_Met617delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029210" }, { "@id": "http://reg.genome.network/allele/PA2829506668", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "G", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.2:c.1342G>T" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Glu448Ter", "hgvsWellDefined": "NP_004007.1:p.Glu448_Glu635delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029211" }, { "@id": "http://reg.genome.network/allele/PA2829507179", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.2:c.1303G>T" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Glu435Ter", "hgvsWellDefined": "NP_004008.1:p.Glu435_Met604delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029212" }, { "@id": "http://reg.genome.network/allele/PA2829507695", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.2:c.1303G>T" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Glu435Ter", "hgvsWellDefined": "NP_004009.1:p.Glu435_Glu622delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029213" }, { "coordinates": [ { "allele": "T", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.2843+9219G>T" ], "proteinEffect": { "hgvs": "NP_004011.2:n.2843+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "T", "end": 4207, "referenceAllele": "G", "start": 4206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.3166G>T" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Glu1056Ter", "hgvsWellDefined": "NP_004012.1:p.Glu1056_Glu1243delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "T", "end": 4168, "referenceAllele": "G", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.3127G>T" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Glu1043Ter", "hgvsWellDefined": "NP_004013.1:p.Glu1043_Glu1230delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "T", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.2843+9219G>T" ], "proteinEffect": { "hgvs": "NP_004014.1:n.2843+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "T", "end": 10743, "referenceAllele": "G", "start": 10742 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.10546G>T" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Glu3516Ter", "hgvsWellDefined": "XP_006724531.1:p.Glu3516_Glu3703delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "T", "end": 10625, "referenceAllele": "G", "start": 10624 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.10522G>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu3508Ter", "hgvsWellDefined": "XP_006724532.1:p.Glu3508_Glu3695delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "T", "end": 10704, "referenceAllele": "G", "start": 10703 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.10507G>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu3503Ter", "hgvsWellDefined": "XP_006724533.1:p.Glu3503_Glu3690delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "T", "end": 10638, "referenceAllele": "G", "start": 10637 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.10441G>T" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Glu3481Ter", "hgvsWellDefined": "XP_006724534.1:p.Glu3481_Glu3668delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "T", "end": 10614, "referenceAllele": "G", "start": 10613 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.10417G>T" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Glu3473Ter", "hgvsWellDefined": "XP_006724535.1:p.Glu3473_Glu3660delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "T", "end": 10605, "referenceAllele": "G", "start": 10604 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.10408G>T" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Glu3470Ter", "hgvsWellDefined": "XP_006724536.1:p.Glu3470_Glu3657delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "T", "end": 10420, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 10420, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.10223+9219G>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:n.10223+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "T", "end": 10420, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 10420, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.10223+9219G>T" ], "proteinEffect": { "hgvs": "XP_006724538.1:n.10223+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "T", "end": 10620, "referenceAllele": "G", "start": 10619 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.10423G>T" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Glu3475Ter", "hgvsWellDefined": "XP_011543769.1:p.Glu3475_Glu3662delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "T", "end": 10717, "referenceAllele": "G", "start": 10716 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.10522G>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu3508Ter", "hgvsWellDefined": "XP_006724532.1:p.Glu3508_Glu3695delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "T", "end": 10704, "referenceAllele": "G", "start": 10703 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.10507G>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu3503Ter", "hgvsWellDefined": "XP_006724533.1:p.Glu3503_Glu3690delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "T", "end": 10420, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 10420, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.10223+9219G>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:n.10223+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "T", "end": 10704, "referenceAllele": "G", "start": 10703 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.10507G>T" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Glu3503Ter", "hgvsWellDefined": "XP_016884817.1:p.Glu3503_Met3672delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "T", "end": 5319, "referenceAllele": "G", "start": 5318 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.4720G>T" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Glu1574Ter", "hgvsWellDefined": "XP_016884820.1:p.Glu1574_Glu1761delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825075021", "coordinates": [ { "allele": "T", "end": 10645, "referenceAllele": "G", "start": 10644 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.10522G>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu3508Ter", "hgvsWellDefined": "NP_000100.3:p.Glu3508_Met3677delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829487867", "coordinates": [ { "allele": "T", "end": 10783, "referenceAllele": "G", "start": 10782 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.10546G>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu3516Ter", "hgvsWellDefined": "NP_003997.2:p.Glu3516_Met3685delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.10546G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.10546G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu3516Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu3516Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829501013", "coordinates": [ { "allele": "T", "end": 6542, "referenceAllele": "G", "start": 6541 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.6523G>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Glu2175Ter", "hgvsWellDefined": "NP_004002.3:p.Glu2175_Met2344delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829503603", "coordinates": [ { "allele": "T", "end": 6685, "referenceAllele": "G", "start": 6684 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.6514G>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Glu2172Ter", "hgvsWellDefined": "NP_004003.2:p.Glu2172_Met2341delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829506130", "coordinates": [ { "allele": "T", "end": 1467, "referenceAllele": "G", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.3:c.1342G>T" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Glu448Ter", "hgvsWellDefined": "NP_004006.1:p.Glu448_Met617delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696017" }, { "@id": "http://reg.genome.network/allele/PA2829506668", "coordinates": [ { "allele": "T", "end": 1467, "referenceAllele": "G", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.3:c.1342G>T" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Glu448Ter", "hgvsWellDefined": "NP_004007.1:p.Glu448_Glu635delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696018" }, { "@id": "http://reg.genome.network/allele/PA2829507179", "coordinates": [ { "allele": "T", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.3:c.1303G>T" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Glu435Ter", "hgvsWellDefined": "NP_004008.1:p.Glu435_Met604delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696019" }, { "@id": "http://reg.genome.network/allele/PA2829507695", "coordinates": [ { "allele": "T", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.3:c.1303G>T" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Glu435Ter", "hgvsWellDefined": "NP_004009.1:p.Glu435_Glu622delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696020" }, { "@id": "http://reg.genome.network/allele/PA2829510291", "coordinates": [ { "allele": "T", "end": 4207, "referenceAllele": "G", "start": 4206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.3166G>T" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Glu1056Ter", "hgvsWellDefined": "NP_004012.2:p.Glu1056_Glu1243delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "coordinates": [ { "allele": "T", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.2843+9219G>T" ], "proteinEffect": { "hgvs": "NP_004014.2:n.2843+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504813", "coordinates": [ { "allele": "T", "end": 4207, "referenceAllele": "G", "start": 4206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.3166G>T" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Glu1056Ter", "hgvsWellDefined": "NP_004004.2:p.Glu1056_Met1225delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2573084340", "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "G", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.2359G>T" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Glu787Ter", "hgvsWellDefined": "NP_004005.2:p.Glu787_Met956delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "coordinates": [ { "allele": "T", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9219, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.2843+9219G>T" ], "proteinEffect": { "hgvs": "NP_004011.3:n.2843+9219G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829511473", "coordinates": [ { "allele": "T", "end": 4168, "referenceAllele": "G", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.3127G>T" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Glu1043Ter", "hgvsWellDefined": "NP_004013.2:p.Glu1043_Glu1230delinsAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }