### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCL2L13) # 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}}" "BCL2L13" "BCL2-like 13 (apoptosis facilitator)" "22" "q11" "unknown" "NC_000022.10" "UD_138303786369" "" "" "" "1" "1" "17164" "23786" "" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:07:22" "" "" "" "" "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 = 16 "{{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}}" "00001600" "BCL2L13" "transcript variant X3" "001" "XM_005261233.1" "" "XP_005261290.1" "" "" "" "-887" "3227" "387" "18111621" "18212296" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001601" "BCL2L13" "transcript variant X1" "002" "XM_005261231.1" "" "XP_005261288.1" "" "" "" "-644" "3526" "1530" "18111621" "18212296" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001602" "BCL2L13" "transcript variant 1" "003" "NM_015367.3" "" "NP_056182.2" "" "" "" "-353" "4779" "1458" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001603" "BCL2L13" "transcript variant 7" "004" "NM_001270731.1" "" "NP_001257660.1" "" "" "" "-769" "4293" "972" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001604" "BCL2L13" "transcript variant 10" "005" "NM_001270734.1" "" "NP_001257663.1" "" "" "" "-353" "4565" "516" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001605" "BCL2L13" "transcript variant 5" "006" "NM_001270729.1" "" "NP_001257658.1" "" "" "" "-682" "4293" "972" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001606" "BCL2L13" "transcript variant 8" "007" "NM_001270732.1" "" "NP_001257661.1" "" "" "" "-353" "4552" "387" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001607" "BCL2L13" "transcript variant 11" "008" "NM_001270735.1" "" "NP_001257664.1" "" "" "" "-353" "4408" "243" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001608" "BCL2L13" "transcript variant 4" "009" "NM_001270728.1" "" "NP_001257657.1" "" "" "" "-353" "4444" "279" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001609" "BCL2L13" "transcript variant 2" "010" "NM_001270726.1" "" "NP_001257655.1" "" "" "" "-110" "4851" "1530" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001610" "BCL2L13" "transcript variant 3" "011" "NM_001270727.1" "" "NP_001257656.1" "" "" "" "-110" "4707" "1386" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001611" "BCL2L13" "transcript variant 6" "012" "NM_001270730.1" "" "NP_001257659.1" "" "" "" "-511" "4293" "972" "18121350" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001612" "BCL2L13" "transcript variant X2" "013" "XM_005261232.1" "" "XP_005261289.1" "" "" "" "-353" "642" "606" "18121350" "18185194" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001613" "BCL2L13" "transcript variant 12" "014" "NR_073068.1" "" "" "" "" "" "1" "4730" "4730" "18138428" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001614" "BCL2L13" "transcript variant 13" "015" "NR_073069.1" "" "" "" "" "" "1" "4713" "4713" "18138428" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" "00001615" "BCL2L13" "transcript variant 9" "016" "NM_001270733.1" "" "NP_001257662.1" "" "" "" "-408" "3939" "618" "18189424" "18213621" "00001" "2013-11-15 15:11:41" "" "" "" "22" ## 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