### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL16A1) # 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}}" "COL16A1" "collagen, type XVI, alpha 1" "1" "p35-p34" "unknown" "NC_000001.10" "UD_132319045729" "" "https://www.LOVD.nl/COL16A1" "" "1" "2193" "1307" "120326" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-19 11:19:06" "00000" "2025-05-05 21:14:00" ## 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}}" "00005491" "COL16A1" "collagen, type XVI, alpha 1" "001" "NM_001856.3" "" "NP_001847.3" "" "" "" "-365" "5219" "4815" "32169768" "32117848" "" "0000-00-00 00:00:00" "" "" ## 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 = 9 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000320714" "0" "50" "1" "32121064" "32121064" "subst" "4.06256E-6" "01804" "COL16A1_000001" "g.32121064C>G" "" "" "" "COL16A1(NM_001856.3):c.4141G>C (p.(Glu1381Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31655463C>G" "" "VUS" "" "0000320715" "0" "50" "1" "32124109" "32124109" "subst" "2.21564E-5" "01804" "COL16A1_000002" "g.32124109G>C" "" "" "" "COL16A1(NM_001856.3):c.4000C>G (p.(Pro1334Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31658508G>C" "" "VUS" "" "0000320716" "0" "50" "1" "32133237" "32133237" "subst" "0.00172789" "01804" "COL16A1_000003" "g.32133237G>A" "" "" "" "COL16A1(NM_001856.3):c.3304-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31667636G>A" "" "VUS" "" "0000507061" "0" "50" "1" "32126668" "32126668" "subst" "0" "01943" "COL16A1_000005" "g.32126668T>G" "" "" "" "COL16A1(NM_001856.4):c.3824A>C (p.E1275A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31661067T>G" "" "VUS" "" "0000654004" "0" "50" "1" "32158728" "32158728" "subst" "0" "01804" "COL16A1_000010" "g.32158728C>T" "" "" "" "COL16A1(NM_001856.3):c.1036G>A (p.(Gly346Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31693127C>T" "" "VUS" "" "0000991153" "0" "50" "1" "32150170" "32150170" "subst" "0" "01804" "COL16A1_000011" "g.32150170G>A" "" "" "" "COL16A1(NM_001856.3):c.2114C>T (p.(Ser705Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991154" "0" "30" "1" "32154091" "32154091" "subst" "0.000203047" "01804" "COL16A1_000012" "g.32154091C>G" "" "" "" "COL16A1(NM_001856.3):c.1780G>C (p.(Val594Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991155" "0" "50" "1" "32158399" "32158399" "subst" "8.12533E-5" "01804" "COL16A1_000013" "g.32158399C>T" "" "" "" "COL16A1(NM_001856.3):c.1082G>A (p.(Cys361Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031972" "0" "30" "1" "32120423" "32120423" "subst" "0.00322476" "01804" "COL16A1_000014" "g.32120423T>C" "" "" "" "COL16A1(NM_001856.4):c.4327A>G (p.(Ile1443Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 COL16A1 ## Count = 9 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000320714" "00005491" "50" "4141" "0" "4141" "0" "c.4141G>C" "r.(?)" "p.(Glu1381Gln)" "" "0000320715" "00005491" "50" "4000" "0" "4000" "0" "c.4000C>G" "r.(?)" "p.(Pro1334Ala)" "" "0000320716" "00005491" "50" "3304" "-8" "3304" "-8" "c.3304-8C>T" "r.(=)" "p.(=)" "" "0000507061" "00005491" "50" "3824" "0" "3824" "0" "c.3824A>C" "r.(?)" "p.(Glu1275Ala)" "" "0000654004" "00005491" "50" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Gly346Ser)" "" "0000991153" "00005491" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Ser705Leu)" "" "0000991154" "00005491" "30" "1780" "0" "1780" "0" "c.1780G>C" "r.(?)" "p.(Val594Leu)" "" "0000991155" "00005491" "50" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Cys361Tyr)" "" "0001031972" "00005491" "30" "4327" "0" "4327" "0" "c.4327A>G" "r.(?)" "p.(Ile1443Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0