### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL1A1) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "COL1A1" "collagen type I alpha 1 chain" "17" "q21.33" "unknown" "LRG_1" "UD_144414574855" "" "" "" "1" "2197" "1277" "120150" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-24 10:48:12" "" "" "00006" "2021-09-12 14:42:16" ## 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}}" "00000042" "COL1A1" "collagen type I alpha 1 chain" "004" "NM_000088.3" "" "NP_000079.2" "" "" "" "-126" "5801" "4395" "50201639" "50184096" "00001" "2020-11-24 10:48:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00027" "OI" "Osteogenesis imperfecta" "" "" "" "" "" "00001" "2020-11-24 10:46:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COL1A1" "00027" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000182" "" "" "" "1" "" "00002" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00000182" "00027" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00027 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000087" "00027" "00000182" "00002" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000197" "00000182" "1" "00002" "00002" "2020-11-24 10:58:30" "" "" "SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000000197" "COL1A1" ## 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 = 12 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000000892" "0" "90" "17" "50190099" "50190099" "subst" "0" "00002" "COL1A1_000001" "g.50190099C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs67693970}, {ClinVar:425610}" "" "" "rs67693970" "0000000893" "0" "90" "17" "50195258" "50195258" "subst" "0" "00002" "COL1A1_000002" "g.50195258C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs72648330}, {ClinVar:647159}" "" "" "rs72648330" "0000000894" "0" "00" "17" "50188131" "50188131" "subst" "0" "00002" "COL1A1_000003" "g.50188131C>T" "2/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs67394386}, {ClinVar:425618}" "" "" "rs67394386" "0000000895" "0" "90" "17" "50189913" "50189913" "subst" "0" "00002" "COL1A1_000004" "g.50189913C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}" "" "" "" "0000000896" "0" "90" "17" "50192669" "50192669" "subst" "0" "00002" "COL1A1_000005" "g.50192669G>A" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}" "" "" "rs923973985" "0000000897" "0" "90" "17" "50194167" "50194167" "del" "0" "00002" "COL1A1_000006" "g.50194167delG" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}" "" "" "" "0000000898" "0" "90" "17" "50191979" "50191979" "subst" "0" "00002" "COL1A1_000007" "g.50191979C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}" "" "" "" "0000000899" "0" "90" "17" "50196163" "50196163" "subst" "0" "00002" "COL1A1_000008" "g.50196163C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs72645357}, {OMIM:120150:0030} {ClinVar:17312}" "" "" "rs72645357" "0000000900" "0" "90" "17" "50194375" "50194375" "subst" "0" "00002" "COL1A1_000009" "g.50194375C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs67682641}, {OMIM:120150:0042} {ClinVar:17324}" "" "" "rs67682641" "0000000901" "0" "90" "17" "50191887" "50191887" "subst" "0" "00002" "COL1A1_000010" "g.50191887C>T" "2/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}" "" "" "rs869320704" "0000000902" "0" "90" "17" "50191463" "50191463" "subst" "0" "00002" "COL1A1_000011" "g.50191463C>T" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs72651645}, {ClinVar:425606}" "" "" "rs72651645" "0000000903" "0" "90" "17" "50197992" "50197992" "subst" "0" "00002" "COL1A1_000012" "g.50197992C>A" "1/14" "{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs72667029}, {ClinVar:526854}" "" "" "rs72667029" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes COL1A1 ## Count = 12 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000000892" "00000042" "90" "2461" "0" "2461" "0" "c.2461G>A" "36" "p.(Gly821Ser)" "r.(?)" "" "" "{ClinVar:425610}" "0000000893" "00000042" "90" "1273" "0" "1273" "0" "c.1273G>A" "19" "p.(Gly425Ser)" "r.(?)" "" "" "{ClinVar:647159}" "0000000894" "00000042" "00" "3226" "0" "3226" "0" "c.3226G>A" "44" "p.(Gly1076Ser)" "r.(?)" "" "" "{ClinVar:425618}" "0000000895" "00000042" "90" "2560" "-1" "2560" "-1" "c.2560-1G>A" "37" "p.?" "r.spl?" "" "" "" "0000000896" "00000042" "90" "1900" "0" "1900" "0" "c.1900C>T" "28" "p.(Gln634*)" "r.(?)" "" "" "" "0000000897" "00000042" "90" "1631" "0" "1631" "0" "c.1631delC" "24" "p.(Pro544Leufs*36)" "r.(?)" "" "" "" "0000000898" "00000042" "90" "2028" "1" "2028" "1" "c.2028+1G>A" "31" "p.?" "r.spl?" "" "" "" "0000000899" "00000042" "90" "994" "0" "994" "0" "c.994G>A" "15" "p.(Gly332Arg)" "r.(?)" "" "" "{ClinVar:17312}" "0000000900" "00000042" "90" "1588" "0" "1588" "0" "c.1588G>A" "23" "p.(Gly530Ser)" "r.(?)" "" "" "{ClinVar:17324}" "0000000901" "00000042" "90" "2029" "-1" "2029" "-1" "c.2029-1G>A" "31" "p.?" "r.spl?" "" "" "" "0000000902" "00000042" "90" "2155" "0" "2155" "0" "c.2155G>A" "32" "p.(Gly719Ser)" "r.(?)" "" "" "{ClinVar:425606}" "0000000903" "00000042" "90" "599" "0" "599" "0" "c.599G>T" "8" "p.(Gly200Val)" "r.(?)" "" "" "{ClinVar:526854}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000197" "0000000892" "0000000197" "0000000893" "0000000197" "0000000894" "0000000197" "0000000895" "0000000197" "0000000896" "0000000197" "0000000897" "0000000197" "0000000898" "0000000197" "0000000899" "0000000197" "0000000900" "0000000197" "0000000901" "0000000197" "0000000902" "0000000197" "0000000903"