### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAPN3) # 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}}" "CAPN3" "calpain 3, (p94)" "15" "q15.1" "unknown" "NC_000015.9" "UD_138304080343" "" "" "" "1" "1" "1480" "825" "114240" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00000583" "CAPN3" "transcript variant X3" "001" "XM_005254705.1" "" "XP_005254762.1" "" "" "" "-59" "2747" "2205" "42646545" "42704513" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000584" "CAPN3" "transcript variant X2" "002" "XM_005254704.1" "" "XP_005254761.1" "" "" "" "-59" "2408" "2310" "42646545" "42704513" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000585" "CAPN3" "transcript variant X4" "003" "XM_005254706.1" "" "XP_005254763.1" "" "" "" "-59" "2603" "2061" "42646545" "42704513" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000586" "CAPN3" "transcript variant 1" "004" "NM_000070.2" "" "NP_000061.1" "" "" "" "-306" "3010" "2466" "42651698" "42704515" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000587" "CAPN3" "transcript variant 2" "005" "NM_024344.1" "" "NP_077320.1" "" "" "" "-306" "2992" "2448" "42651698" "42704515" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000588" "CAPN3" "transcript variant 3" "006" "NM_173087.1" "" "NP_775110.1" "" "" "" "-306" "2734" "2190" "42651698" "42704515" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000589" "CAPN3" "transcript variant X1" "007" "XM_005254703.1" "" "XP_005254760.1" "" "" "" "-34" "2670" "2571" "42651970" "42704514" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000590" "CAPN3" "transcript variant 4" "008" "NM_173088.1" "" "NP_775111.1" "" "" "" "-169" "1474" "930" "42694588" "42704515" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000591" "CAPN3" "transcript variant 6" "009" "NM_173090.1" "" "NP_775113.1" "" "" "" "-276" "1015" "471" "42696977" "42704515" "00001" "2013-11-12 21:32:39" "" "" "" "15" "00000592" "CAPN3" "transcript variant 5" "010" "NM_173089.1" "" "NP_775112.1" "" "" "" "-258" "1015" "471" "42696977" "42704515" "00001" "2013-11-12 21:32:39" "" "" "" "15" ## 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 = 0 ## 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 = 0 ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0