### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL2A1) # 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}}" "COL2A1" "collagen, type II, alpha 1" "12" "q12-q13.2" "unknown" "NC_000012.11" "UD_132118367136" "" "" "" "1" "1" "2200" "1280" "" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 20:58:07" "" "" "00000" "2013-12-10 20:58:07" "" ## 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}}" "00003167" "COL2A1" "transcript variant 1" "002" "NM_001844.4" "" "NP_001835.3" "" "" "" "-181" "4906" "4464" "48366748" "48398285" "00000" "2013-12-10 20:58:07" "" "" "" "12" ## 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 = 4 "{{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}}" "0000023613" "0" "00" "12" "48369754" "48369754" "subst" "33" "0" "00001" "9" "00001" "2018-11-26 09:58:54" "00000" "2018-11-26 10:01:20" "COL2A1_000001" "g.48369754C>T" "" "" "" "" "" "0" ";" "" "" "" "" "" "" "" "0000023614" "0" "00" "12" "48371390" "48371390" "subst" "49" "0" "00001" "9" "00001" "2018-11-26 09:58:54" "00000" "2023-05-10 13:42:54" "COL2A1_000002" "g.48371390C>T" "" "" "" "" "" "0" ";" "" "" "" "" "" "" "" "0000023615" "0" "00" "12" "48375925" "48375925" "subst" "33" "0" "00001" "9" "00001" "2018-11-26 09:58:54" "00000" "2018-11-26 10:01:31" "COL2A1_000003" "g.48375925C>T" "" "" "" "" "" "0" ";" "" "" "" "" "" "" "" "0000023616" "0" "00" "12" "48389687" "48389687" "subst" "33" "0" "00001" "9" "00001" "2018-11-26 09:58:54" "00000" "2018-11-26 10:01:36" "COL2A1_000004" "g.48389687G>A" "" "" "" "" "" "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 = 4 "{{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}}" "0000023613" "00003167" "00" "3589" "0" "3589" "0" "c.3589G>A" "" "p.(Gly1197Ser)" "r.(?)" "" "" "" "" "" "-" "0000023614" "00003167" "00" "3158" "0" "3158" "0" "c.3158G>A" "" "p.(Gly1053Glu)" "r.(?)" "" "" "" "" "" "-" "0000023615" "00003167" "00" "2320" "0" "2320" "0" "c.2320G>A" "" "p.(Gly774Ser)" "r.(?)" "" "" "" "" "" "-" "0000023616" "00003167" "00" "625" "0" "625" "0" "c.625C>T" "" "p.(Arg209*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0