### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAPN10) # 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}}" "CAPN10" "calpain 10" "2" "q37.3" "unknown" "NG_011558.2" "UD_139396722150" "" "" "" "1" "1" "1477" "11132" "605286" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-09-15 17:54:59" "" "" "00000" "2014-09-15 17:54:59" "" ## 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}}" "00003330" "CAPN10" "transcript variant 1" "001" "NM_023083.3" "" "NP_075571.1" "" "" "" "-196" "2448" "2019" "241526133" "241538526" "00000" "2014-09-15 17:54:59" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CAPN10" "00102" ## 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 = 5 "{{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}}" "0000000889" "0" "77" "2" "241531174" "241531174" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-07-24 18:28:57" "CAPN10_000001" "g.241531174G>A" "" "{PMID:15240652:15240652};{PMID:11017071:11017071}" "" "rs3792267" "subst" "0" "; clinvar;" "-5.610" "" "" "" "" "MSCV_0000889" "" "0000019709" "0" "00" "2" "241531163" "241531163" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:49:22" "CAPN10_000002" "g.241531163T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019709" "" "0000019710" "0" "00" "2" "241531174" "241531174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:49:23" "CAPN10_000001" "g.241531174G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000889" "" "0000019711" "0" "00" "2" "241534241" "241534242" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:49:25" "CAPN10_000003" "g.241534241_241534242insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019711" "" "0000025921" "0" "00" "2" "241542703" "241542703" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:09:43" "CAPN10_000004" "g.241542703C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 5 "{{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}}" "0000000889" "00003330" "77" "471" "-176" "471" "-176" "c.471-176G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019709" "00003330" "00" "471" "-187" "471" "-187" "c.471-187T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019710" "00003330" "00" "471" "-176" "471" "-176" "c.471-176G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019711" "00003330" "00" "997" "115" "997" "116" "c.997+115_997+116insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025921" "00003330" "00" "2448" "4177" "2448" "4177" "c.*4606C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0