### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DSP) # 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}}" "DSP" "desmoplakin" "6" "p24.3" "unknown" "NG_008803.1" "UD_139398573346" "" "" "" "1" "1" "3052" "1832" "125647" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:56:21" "" "" "00000" "2014-04-18 18:56:21" "" ## 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}}" "00003236" "DSP" "transcript variant 1" "001" "NM_004415.2" "" "NP_004406.2" "" "" "" "-279" "9451" "8616" "7541870" "7586946" "00000" "2014-04-18 18:56:21" "" "" "" "" ## 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 = 6 "{{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}}" "0000003324" "0" "77" "6" "7559570" "7559571" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:24" "DSP_000001" "g.7559570_7559571insA" "" "" "" "rs397516945" "ins" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003324" "" "0000003325" "0" "77" "6" "7562986" "7562986" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:25" "DSP_000002" "g.7562986G>A" "" "{PMID:16917092:16917092}" "" "rs397516955" "subst" "0" "; clinvar;" "5.760" "" "" "" "" "MSCV_0003325" "" "0000003326" "0" "55" "6" "7562995" "7562996" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:25" "DSP_000003" "g.7562995_7562996insA" "" "{PMID:11063735:11063735};{PMID:16467215:16467215}" "" "rs397516956" "ins" "0" ";" "" "" "" "" "" "MSCV_0003326" "" "0000003327" "0" "77" "6" "7565681" "7565681" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:26" "DSP_000004" "g.7565681C>A" "" "{PMID:16917092:16917092}" "" "rs397516973" "subst" "0" "; clinvar;" "-10.800" "" "" "" "" "MSCV_0003327" "" "0000003328" "0" "55" "6" "7568014" "7568014" "del" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-03 03:18:56" "DSP_000005" "g.7568014del" "" "" "" "rs397516913" "del" "0" ";" "5.450" "" "" "" "" "MSCV_0003328" "" "0000003329" "0" "55" "6" "7577240" "7577241" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:28" "DSP_000006" "g.7577240_7577241insA" "" "" "" "rs397516927" "ins" "0" ";" "" "" "" "" "" "MSCV_0003329" "" ## 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 = 6 "{{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}}" "0000003324" "00003236" "77" "534" "0" "535" "0" "c.534_535insA" "4/24" "p.(Gly179Argfs*4)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003325" "00003236" "77" "699" "0" "699" "0" "c.699G>A" "5/24" "p.(Trp233*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003326" "00003236" "55" "708" "0" "709" "0" "c.708_709insA" "5/24" "p.(Ile238Asnfs*19)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003327" "00003236" "77" "867" "0" "867" "0" "c.867C>A" "7/24" "p.(Cys289*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003328" "00003236" "55" "1141" "0" "1141" "0" "c.1141del" "" "p.(Phe382Leufs*11)" "r.(?)" "" "" "" "" "" "-" "0000003329" "00003236" "55" "2842" "0" "2843" "0" "c.2842_2843insA" "20/24" "p.(Ile950Asnfs*3)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0