### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DMD) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "DMD" "dystrophin" "X" "p21.2" "unknown" "LRG_199" "UD_139262478721" "" "" "" "1" "1" "2928" "1756" "300377" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:57:19" "" "" "00000" "2014-04-18 18:57:19" "" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00003242" "DMD" "transcript variant Dp427m" "012" "NM_004006.2" "" "NP_003997.1" "" "" "" "-244" "13749" "11058" "31137345" "33229673" "00000" "2014-04-18 18:57:19" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 7 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000003639" "0" "99" "X" "31196049" "31196049" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-01-10 16:55:44" "DMD_000003" "g.31196049G>A" "" "{PMID:8301652:8301652}" "" "rs104894791" "subst" "0" "; clinvar;" "4.930" "" "" "" "" "MSCV_0003639" "" "0000003640" "0" "11" "X" "31496398" "31496398" "subst" "35" "0.0205473" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-07-31 20:01:35" "DMD_000005" "g.31496398T>C" "" "{PMID:25333069:25333069};{PMID:7881286:7881286};{PMID:23757202:23757202}" "" "rs1800279" "subst" "0" "; clinvar;" "2.920" "" "" "" "" "MSCV_0003640" "" "0000003641" "0" "99" "X" "32456489" "32456489" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-01-10 16:55:27" "DMD_000007" "g.32456489G>A" "" "{PMID:11039581:11039581}" "" "rs5030730" "subst" "0" "; clinvar;" "5.820" "" "" "" "" "MSCV_0003641" "" "0000003642" "0" "99" "X" "32466728" "32466728" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:02:41" "DMD_000004" "g.32466728C>A" "" "{PMID:9410897:9410897}" "" "rs267606771" "subst" "0" "; clinvar;" "4.660" "" "" "" "" "MSCV_0003642" "" "0000003643" "0" "99" "X" "32716112" "32716112" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-08-23 09:12:50" "DMD_000006" "g.32716112T>C" "" "{PMID:9170407:9170407}" "" "rs128627255" "subst" "0" "; clinvar;" "5.630" "" "" "" "" "MSCV_0003643" "" "0000003644" "0" "99" "X" "32717369" "32717369" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-01-10 16:55:57" "DMD_000001" "g.32717369A>T" "" "{PMID:7951253:7951253}" "" "rs128626237" "subst" "0" "; clinvar;" "5.570" "" "" "" "" "MSCV_0003644" "" "0000003645" "0" "99" "X" "32834612" "32834612" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-07-01 10:30:47" "DMD_000002" "g.32834612G>T" "" "{PMID:7951253:7951253}" "" "rs128626236" "subst" "0" "; clinvar;" "5.510" "" "" "" "" "MSCV_0003645" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 7 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000003639" "00003242" "99" "10262" "0" "10262" "0" "c.10262C>T" "71/79" "p.(Ala3421Val)" "r.(?)" "possibly_damaging(0.695)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.11)" "0000003640" "00003242" "11" "8762" "0" "8762" "0" "c.8762A>G" "59/79" "p.(His2921Arg)" "r.(?)" "benign(0.402)" "" "missense_variant" "" "" "tolerated(0.59)" "0000003641" "00003242" "99" "3940" "0" "3940" "0" "c.3940C>T" "29/79" "p.(Arg1314*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003642" "00003242" "99" "3631" "0" "3631" "0" "c.3631G>T" "27/79" "p.(Glu1211*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003643" "00003242" "99" "835" "0" "835" "0" "c.835A>G" "9/79" "p.(Thr279Ala)" "r.(?)" "possibly_damaging(0.764)" "" "missense_variant" "" "" "tolerated(0.08)" "0000003644" "00003242" "99" "691" "0" "691" "0" "c.691T>A" "8/79" "p.(Tyr231Asn)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003645" "00003242" "99" "503" "0" "503" "0" "c.503C>A" "6/79" "p.(Ala168Asp)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0