### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FTCD) # 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}}" "FTCD" "formiminotransferase cyclodeaminase" "21" "q22.3" "unknown" "NG_016191.1" "UD_132118783716" "" "https://www.LOVD.nl/FTCD" "" "1" "3974" "10841" "606806" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FTCD_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-05-27 14:40:49" "00000" "2025-11-01 13:22:20" ## 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}}" "00001470" "FTCD" "transcript variant B" "001" "NM_006657.2" "" "NP_006648.1" "" "" "" "-44" "1861" "1626" "47556176" "47575481" "00000" "2012-09-13 13:34:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01791" "-" "glutamate formiminotransferase deficiency" "AR" "229100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FTCD" "01791" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00164346" "" "" "" "1" "" "00719" "Jansen, submitted" "" "M" "" "" "" "0" "" "" "" "Jansen et al. Patient 8" "00293049" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00399150" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00164346" "00139" "00293049" "00198" "00399150" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 01791 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000129451" "00139" "00164346" "00719" "Isolated (sporadic)" "" "epilepsy (HP:0001250); hypotonia (HP:0001290),; Talipes equinovarus (HP:0001762); facial dysmorphism (HP:0001999),; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000292238" "00198" "00399150" "02551" "Unknown" "" "Ankyloglossia (HP:0010296); Delayed myelination (HP:0012448); Absent speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000165213" "00164346" "1" "00719" "00719" "2018-05-14 19:35:17" "" "" "SEQ-NG" "DNA" "" "" "0000294217" "00293049" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000400394" "00399150" "1" "02551" "02551" "2022-01-17 11:06:54" "00001" "2022-01-17 11:07:56" "SEQ" "DNA" "" "" ## 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 = 116 "{{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}}" "0000006031" "3" "50" "21" "47556793" "47556793" "subst" "0.653352" "00037" "FTCD_000001" "g.47556793C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46136879C>T" "" "VUS" "" "0000013970" "0" "50" "21" "47556793" "47556793" "subst" "0.653352" "00037" "FTCD_000001" "g.47556793C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46136879C>T" "" "VUS" "" "0000247677" "0" "10" "21" "47552130" "47552130" "subst" "0.0980658" "02330" "COL6A2_000040" "g.47552130A>G" "" "" "" "COL6A2(NM_001849.4):c.2724A>G (p.T908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132216A>G" "" "benign" "" "0000248390" "0" "10" "21" "47552130" "47552130" "subst" "0.0980658" "02325" "COL6A2_000040" "g.47552130A>G" "" "" "" "COL6A2(NM_001849.4):c.2724A>G (p.T908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132216A>G" "" "benign" "" "0000256523" "0" "50" "21" "47552089" "47552089" "subst" "0.00128523" "01943" "COL6A2_000034" "g.47552089A>C" "" "" "" "COL6A2(NM_001849.3):c.2683A>C (p.S895R, p.(Ser895Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132175A>C" "" "VUS" "" "0000264824" "0" "30" "21" "47552522" "47552522" "subst" "0" "02330" "COL6A2_000045" "g.47552522T>G" "" "" "" "COL6A2(NM_001849.4):c.*56T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132608T>G" "" "likely benign" "" "0000264851" "0" "10" "21" "47552103" "47552103" "subst" "0.0343517" "02330" "COL6A2_000039" "g.47552103G>T" "" "" "" "COL6A2(NM_001849.3):c.2697G>T (p.(Thr899=)), COL6A2(NM_001849.4):c.2697G>T (p.T899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132189G>T" "" "benign" "" "0000264852" "0" "10" "21" "47552209" "47552209" "subst" "0.079562" "02330" "COL6A2_000118" "g.47552209G>A" "" "" "" "COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132295G>A" "" "benign" "" "0000264853" "0" "10" "21" "47552262" "47552262" "subst" "0.00169053" "02330" "COL6A2_000236" "g.47552262G>A" "" "" "" "COL6A2(NM_001849.3):c.2856G>A (p.(Thr952=)), COL6A2(NM_001849.4):c.2856G>A (p.T952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132348G>A" "" "benign" "" "0000264854" "0" "10" "21" "47552385" "47552385" "subst" "0.131278" "02330" "COL6A2_000042" "g.47552385C>T" "" "" "" "COL6A2(NM_001849.4):c.2979C>T (p.R993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132471C>T" "" "benign" "" "0000264855" "0" "10" "21" "47552388" "47552388" "subst" "0.000504567" "02330" "COL6A2_000237" "g.47552388C>T" "" "" "" "COL6A2(NM_001849.3):c.2982C>T (p.A994=), COL6A2(NM_001849.4):c.2982C>T (p.A994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132474C>T" "" "benign" "" "0000267007" "0" "10" "21" "47552209" "47552209" "subst" "0.079562" "02325" "COL6A2_000118" "g.47552209G>A" "" "" "" "COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132295G>A" "" "benign" "" "0000270499" "0" "10" "21" "47552209" "47552209" "subst" "0.079562" "02326" "COL6A2_000118" "g.47552209G>A" "" "" "" "COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132295G>A" "" "benign" "" "0000274278" "0" "30" "21" "47552154" "47552154" "subst" "0" "01943" "COL6A2_000234" "g.47552154C>A" "" "" "" "COL6A2(NM_001849.3):c.2748C>A (p.H916Q, p.(His916Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132240C>A" "" "likely benign" "" "0000280928" "0" "10" "21" "47558473" "47558473" "subst" "0.484059" "02325" "FTCD_000003" "g.47558473G>C" "" "" "" "FTCD(NM_006657.3):c.1392C>G (p.A464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46138559G>C" "" "benign" "" "0000287970" "0" "30" "21" "47556977" "47556977" "subst" "3.2844E-5" "01943" "FTCD_000002" "g.47556977C>T" "" "" "" "FTCD(NM_006657.2):c.1550G>A (p.R517H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46137063C>T" "" "likely benign" "" "0000328753" "0" "50" "21" "47551934" "47551934" "subst" "0.000199614" "01804" "COL6A2_000173" "g.47551934G>A" "" "" "" "COL6A2(NM_001849.3):c.2528G>A (p.(Arg843Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132020G>A" "" "VUS" "" "0000328755" "0" "50" "21" "47552006" "47552006" "subst" "0.000891636" "01804" "COL6A2_000232" "g.47552006G>A" "" "" "" "COL6A2(NM_001849.3):c.2600G>A (p.(Arg867Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132092G>A" "" "VUS" "" "0000328756" "0" "30" "21" "47552103" "47552103" "subst" "0.0343517" "01804" "COL6A2_000039" "g.47552103G>T" "" "" "" "COL6A2(NM_001849.3):c.2697G>T (p.(Thr899=)), COL6A2(NM_001849.4):c.2697G>T (p.T899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132189G>T" "" "likely benign" "" "0000328757" "0" "30" "21" "47552175" "47552175" "subst" "0.00507529" "01804" "COL6A2_000117" "g.47552175C>T" "" "" "" "COL6A2(NM_001849.3):c.2769C>T (p.(His923=), p.H923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132261C>T" "" "likely benign" "" "0000328758" "0" "30" "21" "47552187" "47552187" "subst" "0" "01804" "COL6A2_000235" "g.47552187C>G" "" "" "" "COL6A2(NM_001849.3):c.2781C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132273C>G" "" "likely benign" "" "0000328759" "0" "30" "21" "47552201" "47552201" "subst" "0.00252178" "01804" "COL6A2_000041" "g.47552201C>T" "" "" "" "COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132287C>T" "" "likely benign" "" "0000328760" "0" "30" "21" "47552389" "47552389" "subst" "0.00254957" "01804" "COL6A2_000123" "g.47552389G>A" "" "" "" "COL6A2(NM_001849.3):c.2983G>A (p.(Ala995Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132475G>A" "" "likely benign" "" "0000328761" "0" "30" "21" "47552406" "47552406" "subst" "4.2482E-6" "01804" "COL6A2_000238" "g.47552406G>A" "" "" "" "COL6A2(NM_001849.3):c.3000G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132492G>A" "" "likely benign" "" "0000328762" "0" "50" "21" "47552423" "47552423" "subst" "0.00044732" "01804" "COL6A2_000239" "g.47552423C>T" "" "" "" "COL6A2(NM_001849.3):c.3017C>T (p.(Ala1006Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132509C>T" "" "VUS" "" "0000338203" "0" "10" "21" "47552624" "47552624" "subst" "0" "02327" "COL6A2_000267" "g.47552624C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132710C>T" "" "benign" "" "0000340149" "0" "10" "21" "47552103" "47552103" "subst" "0.0343517" "02327" "COL6A2_000039" "g.47552103G>T" "" "" "" "COL6A2(NM_001849.3):c.2697G>T (p.(Thr899=)), COL6A2(NM_001849.4):c.2697G>T (p.T899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132189G>T" "" "benign" "" "0000340150" "0" "10" "21" "47552130" "47552130" "subst" "0.0980658" "02327" "COL6A2_000040" "g.47552130A>G" "" "" "" "COL6A2(NM_001849.4):c.2724A>G (p.T908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132216A>G" "" "benign" "" "0000340151" "0" "10" "21" "47552385" "47552385" "subst" "0.131278" "02327" "COL6A2_000042" "g.47552385C>T" "" "" "" "COL6A2(NM_001849.4):c.2979C>T (p.R993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132471C>T" "" "benign" "" "0000343402" "0" "70" "21" "47551894" "47551894" "subst" "0" "02327" "COL6A2_000264" "g.47551894C>T" "" "" "" "COL6A2(NM_001849.3):c.2488C>T (p.R830W), COL6A2(NM_001849.4):c.2488C>T (p.R830W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46131980C>T" "" "likely pathogenic" "" "0000343862" "0" "50" "21" "47552409" "47552409" "subst" "0.000102174" "02327" "COL6A2_000266" "g.47552409C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132495C>A" "" "VUS" "" "0000346295" "0" "30" "21" "47551924" "47551924" "subst" "5.08182E-5" "02327" "COL6A2_000265" "g.47551924G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132010G>A" "" "likely benign" "" "0000346329" "0" "10" "21" "47552209" "47552209" "subst" "0.079562" "02327" "COL6A2_000118" "g.47552209G>A" "" "" "" "COL6A2(NM_001849.3):c.2803G>A (p.G935R), COL6A2(NM_001849.4):c.2803G>A (p.G935R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46132295G>A" "" "benign" "" "0000368855" "0" "70" "21" "47565842" "47565842" "dup" "0" "00719" "FTCD_000005" "g.47565842dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.46145928dup" "" "likely pathogenic" "" "0000571052" "0" "50" "21" "47551894" "47551894" "subst" "0" "01943" "COL6A2_000264" "g.47551894C>T" "" "" "" "COL6A2(NM_001849.3):c.2488C>T (p.R830W), COL6A2(NM_001849.4):c.2488C>T (p.R830W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46131980C>T" "" "VUS" "" "0000571054" "0" "30" "21" "47551930" "47551930" "subst" "4.25974E-5" "01804" "FTCD_000007" "g.47551930G>A" "" "" "" "COL6A2(NM_001849.3):c.2524G>A (p.(Glu842Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132016G>A" "" "likely benign" "" "0000571056" "0" "30" "21" "47551964" "47551964" "subst" "0.00253908" "01943" "COL6A2_000025" "g.47551964G>A" "" "" "" "COL6A2(NM_001849.3):c.2558G>A (p.R853Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132050G>A" "" "likely benign" "" "0000571058" "0" "50" "21" "47551981" "47551981" "subst" "0.000250743" "01804" "COL6A2_000231" "g.47551981G>A" "" "" "" "COL6A2(NM_001849.3):c.2575G>A (p.(Val859Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132067G>A" "" "VUS" "" "0000571062" "0" "30" "21" "47552034" "47552034" "subst" "2.71553E-5" "01943" "COL6A2_000116" "g.47552034C>T" "" "" "" "COL6A2(NM_001849.3):c.2628C>T (p.R876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132120C>T" "" "likely benign" "" "0000571063" "0" "30" "21" "47552154" "47552154" "subst" "0" "01804" "COL6A2_000234" "g.47552154C>A" "" "" "" "COL6A2(NM_001849.3):c.2748C>A (p.H916Q, p.(His916Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132240C>A" "" "likely benign" "" "0000571065" "0" "30" "21" "47552201" "47552201" "subst" "0.00252178" "02325" "COL6A2_000041" "g.47552201C>T" "" "" "" "COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132287C>T" "" "likely benign" "" "0000571066" "0" "50" "21" "47552261" "47552261" "subst" "7.91304E-5" "01804" "FTCD_000011" "g.47552261C>T" "" "" "" "COL6A2(NM_001849.3):c.2855C>T (p.(Thr952Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132347C>T" "" "VUS" "" "0000571067" "0" "30" "21" "47552262" "47552262" "subst" "0.00169053" "01804" "COL6A2_000236" "g.47552262G>A" "" "" "" "COL6A2(NM_001849.3):c.2856G>A (p.(Thr952=)), COL6A2(NM_001849.4):c.2856G>A (p.T952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132348G>A" "" "likely benign" "" "0000571068" "0" "30" "21" "47552391" "47552391" "subst" "9.75519E-5" "01943" "FTCD_000012" "g.47552391C>T" "" "" "" "COL6A2(NM_001849.3):c.2985C>T (p.A995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132477C>T" "" "likely benign" "" "0000571070" "0" "30" "21" "47565371" "47565371" "subst" "0.0019908" "01943" "FTCD_000014" "g.47565371G>T" "" "" "" "FTCD(NM_001320412.1):c.1220C>A (p.T407K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46145457G>T" "" "likely benign" "" "0000571071" "0" "30" "21" "47565385" "47565385" "subst" "0.000101349" "01943" "FTCD_000015" "g.47565385C>T" "" "" "" "FTCD(NM_001320412.1):c.1206G>A (p.S402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46145471C>T" "" "likely benign" "" "0000571073" "0" "50" "21" "47565842" "47565842" "dup" "0" "02326" "FTCD_000005" "g.47565842dup" "" "" "" "FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46145928dup" "" "VUS" "" "0000571074" "0" "50" "21" "47565842" "47565842" "dup" "0" "02329" "FTCD_000005" "g.47565842dup" "" "" "" "FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46145928dup" "" "VUS" "" "0000571075" "0" "30" "21" "47570433" "47570433" "subst" "0.00177668" "01943" "FTCD_000016" "g.47570433G>A" "" "" "" "FTCD(NM_001320412.1):c.643C>T (p.R215C), FTCD(NM_206965.2):c.643C>T (p.(Arg215Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46150519G>A" "" "likely benign" "" "0000571076" "0" "50" "21" "47571468" "47571468" "subst" "5.33206E-5" "01943" "FTCD_000017" "g.47571468T>C" "" "" "" "FTCD(NM_001320412.1):c.636+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46151554T>C" "" "VUS" "" "0000571077" "0" "30" "21" "47571640" "47571640" "subst" "5.30569E-5" "01943" "FTCD_000018" "g.47571640G>A" "" "" "" "FTCD(NM_001320412.1):c.468C>T (p.A156=), FTCD(NM_206965.2):c.468C>T (p.(Ala156=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46151726G>A" "" "likely benign" "" "0000571078" "0" "30" "21" "47571833" "47571833" "subst" "5.87959E-5" "01943" "FTCD_000019" "g.47571833G>A" "" "" "" "FTCD(NM_001320412.1):c.429C>T (p.A143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46151919G>A" "" "likely benign" "" "0000571080" "0" "50" "21" "47574206" "47574206" "subst" "0" "01943" "FTCD_000021" "g.47574206C>G" "" "" "" "FTCD(NM_006657.2):c.95G>C (p.G32A), FTCD(NM_206965.1):c.95G>C (p.(Gly32Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46154292C>G" "" "VUS" "" "0000618424" "0" "30" "21" "47551890" "47551890" "subst" "8.66446E-6" "01943" "FTCD_000022" "g.47551890G>T" "" "" "" "COL6A2(NM_001849.3):c.2484G>T (p.T828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46131976G>T" "" "likely benign" "" "0000618425" "0" "50" "21" "47552005" "47552005" "subst" "0.00140527" "01804" "COL6A2_000130" "g.47552005C>T" "" "" "" "COL6A2(NM_001849.3):c.2599C>T (p.(Arg867Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46132091C>T" "" "VUS" "" "0000618426" "0" "50" "21" "47565842" "47565842" "dup" "0" "02325" "FTCD_000005" "g.47565842dup" "" "" "" "FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46145928dup" "" "VUS" "" "0000618427" "0" "50" "21" "47574148" "47574148" "subst" "4.08143E-5" "01804" "FTCD_000023" "g.47574148G>T" "" "" "" "FTCD(NM_006657.2):c.153C>A (p.(Phe51Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46154234G>T" "" "VUS" "" "0000624242" "0" "50" "21" "47574224" "47574224" "subst" "0" "01943" "FTCD_000024" "g.47574224G>T" "" "" "" "FTCD(NM_001320412.1):c.77C>A (p.A26D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46154310G>T" "" "VUS" "" "0000650906" "1" "50" "21" "47558507" "47558507" "subst" "0.000612101" "03575" "FTCD_000025" "g.47558507G>A" "5/2736 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs200283734}" "Germline" "" "rs200283734" "0" "" "" "g.46138593G>A" "" "VUS" "" "0000681758" "0" "50" "21" "47552249" "47552249" "subst" "3.34169E-5" "01804" "FTCD_000026" "g.47552249C>T" "" "" "" "COL6A2(NM_001849.3):c.2843C>T (p.(Thr948Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681759" "0" "30" "21" "47572815" "47572815" "subst" "0" "01943" "FTCD_000027" "g.47572815G>A" "" "" "" "FTCD(NM_001320412.1):c.367+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681760" "0" "70" "21" "47574062" "47574062" "subst" "1.6417E-5" "02325" "FTCD_000028" "g.47574062C>A" "" "" "" "FTCD(NM_001320412.2):c.238+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693080" "0" "30" "21" "47552292" "47552292" "subst" "0.000820685" "02326" "COL6A2_000121" "g.47552292C>T" "" "" "" "COL6A2(NM_001849.3):c.2886C>T (p.H962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693081" "0" "30" "21" "47565831" "47565831" "subst" "4.76472E-5" "01943" "FTCD_000029" "g.47565831T>G" "" "" "" "FTCD(NM_001320412.1):c.999A>C (p.R333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693082" "0" "30" "21" "47571869" "47571869" "subst" "0" "01943" "FTCD_000030" "g.47571869C>T" "" "" "" "FTCD(NM_001320412.1):c.393G>A (p.R131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693083" "0" "50" "21" "47572915" "47572915" "subst" "0" "01943" "FTCD_000031" "g.47572915G>T" "" "" "" "FTCD(NM_001320412.1):c.273C>A (p.C91*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727993" "0" "50" "21" "47551894" "47551894" "subst" "0" "02329" "COL6A2_000264" "g.47551894C>T" "" "" "" "COL6A2(NM_001849.3):c.2488C>T (p.R830W), COL6A2(NM_001849.4):c.2488C>T (p.R830W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727994" "0" "50" "21" "47551976" "47551987" "dup" "0" "02329" "FTCD_000008" "g.47551976_47551987dup" "" "" "" "COL6A2(NM_001849.4):c.2570_2581dupAGCAGGTGGCGC (p.A860_R861insQQVA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727995" "0" "50" "21" "47551997" "47551997" "subst" "0" "02329" "FTCD_000010" "g.47551997C>A" "" "" "" "COL6A2(NM_001849.4):c.2591C>A (p.T864K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727996" "0" "50" "21" "47552191" "47552191" "subst" "0.000166165" "02329" "COL6A2_000170" "g.47552191G>A" "" "" "" "COL6A2(NM_001849.4):c.2785G>A (p.(Val929Met), p.V929M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727997" "0" "50" "21" "47552341" "47552341" "subst" "0.000191803" "01943" "COL6A2_000415" "g.47552341G>A" "" "" "" "COL6A2(NM_001849.3):c.2935G>A (p.D979N), COL6A2(NM_001849.4):c.2935G>A (p.(Asp979Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727998" "0" "70" "21" "47565842" "47565842" "dup" "0" "01943" "FTCD_000005" "g.47565842dup" "" "" "" "FTCD(NM_001320412.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.2):c.990dupG (p.P331Afs*2), FTCD(NM_006657.3):c.990dupG (p.P331Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727999" "0" "50" "21" "47572902" "47572902" "subst" "5.44788E-5" "01943" "FTCD_000032" "g.47572902C>T" "" "" "" "FTCD(NM_001320412.1):c.286G>A (p.V96M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809444" "0" "30" "21" "47557195" "47557195" "subst" "8.12203E-6" "01943" "FTCD_000033" "g.47557195G>A" "" "" "" "FTCD(NM_001320412.1):c.1497C>T (p.L499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809445" "0" "50" "21" "47565469" "47565469" "subst" "0.00053843" "01943" "FTCD_000034" "g.47565469C>T" "" "" "" "FTCD(NM_001320412.1):c.1122G>A (p.V374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809446" "0" "50" "21" "47571510" "47571510" "subst" "2.44594E-5" "01943" "FTCD_000035" "g.47571510C>T" "" "" "" "FTCD(NM_001320412.1):c.598G>A (p.A200T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833244" "0" "70" "21" "47571497" "47571497" "subst" "8.15867E-6" "02551" "FTCD_000036" "g.47571497C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000833245" "0" "70" "21" "47571578" "47571578" "subst" "1.62889E-5" "02551" "FTCD_000037" "g.47571578C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000856041" "0" "50" "21" "47565767" "47565767" "dup" "0" "01943" "FTCD_000040" "g.47565767dup" "" "" "" "FTCD(NM_001320412.1):c.1067dupG (p.G357Rfs*75)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866690" "0" "50" "21" "47552201" "47552201" "subst" "0.00252178" "01943" "COL6A2_000041" "g.47552201C>T" "" "" "" "COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866691" "0" "30" "21" "47552277" "47552277" "subst" "0.00108076" "01804" "FTCD_000038" "g.47552277G>A" "" "" "" "COL6A2(NM_001849.3):c.2871G>A (p.(Leu957=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866692" "0" "30" "21" "47552386" "47552386" "subst" "0.0115906" "01804" "COL6A2_000122" "g.47552386G>A" "" "" "" "COL6A2(NM_001849.3):c.2980G>A (p.(Ala994Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866693" "0" "30" "21" "47552449" "47552449" "subst" "0.00538973" "01804" "COL6A2_000126" "g.47552449A>C" "" "" "" "COL6A2(NM_001849.3):c.3043A>C (p.(Ile1015Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866694" "0" "50" "21" "47556895" "47556895" "subst" "4.11699E-6" "01943" "FTCD_000039" "g.47556895G>A" "" "" "" "FTCD(NM_001320412.1):c.1612C>T (p.R538W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895552" "0" "10" "21" "47551833" "47551833" "subst" "0.552288" "02326" "COL6A2_000112" "g.47551833C>T" "" "" "" "COL6A2(NM_001849.3):c.2462-35C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895553" "0" "30" "21" "47552089" "47552089" "subst" "0.00128523" "01804" "COL6A2_000034" "g.47552089A>C" "" "" "" "COL6A2(NM_001849.3):c.2683A>C (p.S895R, p.(Ser895Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895554" "0" "50" "21" "47552344" "47552344" "subst" "6.67512E-5" "02325" "FTCD_000041" "g.47552344G>A" "" "" "" "COL6A2(NM_001849.4):c.2938G>A (p.V980M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915472" "0" "30" "21" "47552013" "47552013" "subst" "0.00103584" "01804" "COL6A2_000387" "g.47552013C>T" "" "" "" "COL6A2(NM_001849.3):c.2607C>T (p.(Asp869=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927102" "0" "30" "21" "47552067" "47552067" "subst" "0.000244048" "01804" "COL6A2_000394" "g.47552067G>A" "" "" "" "COL6A2(NM_001849.3):c.2661G>A (p.(Glu887=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927103" "0" "50" "21" "47552182" "47552182" "subst" "8.53235E-6" "02327" "FTCD_000042" "g.47552182A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970349" "0" "30" "21" "47551991" "47551991" "subst" "0.000367304" "01804" "COL6A2_000384" "g.47551991G>A" "" "" "" "COL6A2(NM_001849.3):c.2585G>A (p.(Arg862Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970352" "0" "30" "21" "47552201" "47552201" "subst" "0.00252178" "02326" "COL6A2_000041" "g.47552201C>T" "" "" "" "COL6A2(NM_001849.3):c.2795C>T (p.P932L, p.(Pro932Leu)), COL6A2(NM_001849.4):c.2795C>T (p.P932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984044" "0" "50" "21" "47551957" "47551957" "subst" "0" "01804" "FTCD_000043" "g.47551957A>G" "" "" "" "COL6A2(NM_001849.4):c.2551A>G (p.(Lys851Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984045" "0" "50" "21" "47551990" "47551990" "subst" "0.000107754" "01804" "FTCD_000044" "g.47551990C>T" "" "" "" "COL6A2(NM_001849.3):c.2584C>T (p.(Arg862Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984046" "0" "50" "21" "47552029" "47552029" "subst" "0.000196462" "01804" "FTCD_000045" "g.47552029G>A" "" "" "" "COL6A2(NM_001849.4):c.2623G>A (p.(Ala875Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984047" "0" "50" "21" "47552191" "47552191" "subst" "0.000166165" "01804" "COL6A2_000170" "g.47552191G>A" "" "" "" "COL6A2(NM_001849.4):c.2785G>A (p.(Val929Met), p.V929M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984048" "0" "50" "21" "47552194" "47552194" "subst" "0" "01804" "FTCD_000046" "g.47552194C>T" "" "" "" "COL6A2(NM_001849.4):c.2788C>T (p.(Arg930Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984049" "0" "50" "21" "47552341" "47552341" "subst" "0.000191803" "01804" "COL6A2_000415" "g.47552341G>A" "" "" "" "COL6A2(NM_001849.3):c.2935G>A (p.D979N), COL6A2(NM_001849.4):c.2935G>A (p.(Asp979Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984050" "0" "30" "21" "47552350" "47552350" "subst" "0.00105239" "01804" "FTCD_000047" "g.47552350A>G" "" "" "" "COL6A2(NM_001849.3):c.2944A>G (p.(Met982Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984051" "0" "30" "21" "47552388" "47552388" "subst" "0.000504567" "02326" "COL6A2_000237" "g.47552388C>T" "" "" "" "COL6A2(NM_001849.3):c.2982C>T (p.A994=), COL6A2(NM_001849.4):c.2982C>T (p.A994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984052" "0" "50" "21" "47552429" "47552429" "subst" "4.31183E-6" "01804" "FTCD_000048" "g.47552429C>G" "" "" "" "COL6A2(NM_001849.4):c.3023C>G (p.(Pro1008Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984053" "0" "90" "21" "47558500" "47558500" "dup" "0" "01804" "FTCD_000049" "g.47558500dup" "" "" "" "FTCD(NM_206965.2):c.1366dup (p.(Glu456GlyfsTer56))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984054" "0" "30" "21" "47565497" "47565497" "subst" "1.51053E-5" "01804" "FTCD_000050" "g.47565497G>A" "" "" "" "FTCD(NM_206965.2):c.1099-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984055" "0" "30" "21" "47570433" "47570433" "subst" "0.00177668" "01804" "FTCD_000016" "g.47570433G>A" "" "" "" "FTCD(NM_001320412.1):c.643C>T (p.R215C), FTCD(NM_206965.2):c.643C>T (p.(Arg215Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005843" "0" "50" "21" "47552269" "47552269" "subst" "2.49379E-5" "01804" "FTCD_000051" "g.47552269G>A" "" "" "" "COL6A2(NM_001849.3):c.2863G>A (p.(Asp955Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005844" "0" "50" "21" "47552383" "47552383" "subst" "4.23417E-6" "01804" "FTCD_000052" "g.47552383C>G" "" "" "" "COL6A2(NM_001849.3):c.2977C>G (p.(Arg993Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005845" "0" "50" "21" "47552435" "47552435" "subst" "4.32893E-6" "01804" "COL6A2_000427" "g.47552435T>G" "" "" "" "COL6A2(NM_001849.3):c.3029T>G (p.(Phe1010Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005846" "0" "50" "21" "47574206" "47574206" "subst" "0" "01804" "FTCD_000021" "g.47574206C>G" "" "" "" "FTCD(NM_006657.2):c.95G>C (p.G32A), FTCD(NM_206965.1):c.95G>C (p.(Gly32Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043668" "0" "30" "21" "47552175" "47552175" "subst" "0.00507529" "02326" "COL6A2_000117" "g.47552175C>T" "" "" "" "COL6A2(NM_001849.3):c.2769C>T (p.(His923=), p.H923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043669" "0" "50" "21" "47552179" "47552179" "subst" "1.28414E-5" "01804" "FTCD_000053" "g.47552179A>C" "" "" "" "COL6A2(NM_001849.4):c.2773A>C (p.(Ile925Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043670" "0" "30" "21" "47565871" "47565871" "subst" "0" "01804" "FTCD_000054" "g.47565871G>A" "" "" "" "FTCD(NM_206965.2):c.969-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043671" "0" "90" "21" "47570313" "47570313" "subst" "8.1481E-6" "01804" "FTCD_000055" "g.47570313G>A" "" "" "" "FTCD(NM_206965.2):c.763C>T (p.(Arg255*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043672" "0" "50" "21" "47571640" "47571640" "subst" "5.30569E-5" "01804" "FTCD_000018" "g.47571640G>A" "" "" "" "FTCD(NM_001320412.1):c.468C>T (p.A156=), FTCD(NM_206965.2):c.468C>T (p.(Ala156=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043673" "0" "50" "21" "47574152" "47574152" "subst" "9.79728E-5" "01804" "FTCD_000056" "g.47574152G>A" "" "" "" "FTCD(NM_206965.2):c.149C>T (p.(Thr50Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057048" "0" "50" "21" "47570043" "47570043" "subst" "8.33896E-6" "01804" "FTCD_000057" "g.47570043C>T" "" "" "" "FTCD(NM_206965.2):c.896G>A (p.(Arg299Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057049" "0" "50" "21" "47572869" "47572869" "subst" "0.000392892" "01804" "FTCD_000058" "g.47572869A>G" "" "" "" "FTCD(NM_206965.2):c.319T>C (p.(Cys107Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 FTCD ## Count = 116 "{{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}}" "0000006031" "00001470" "50" "1628" "106" "1628" "106" "c.*2+106G>A" "r.(=)" "p.(=)" "" "0000013970" "00001470" "50" "1628" "106" "1628" "106" "c.*2+106G>A" "r.(=)" "p.(=)" "" "0000247677" "00001470" "10" "5907" "0" "5907" "0" "c.*4281T>C" "r.(=)" "p.(=)" "" "0000248390" "00001470" "10" "5907" "0" "5907" "0" "c.*4281T>C" "r.(=)" "p.(=)" "" "0000256523" "00001470" "50" "5948" "0" "5948" "0" "c.*4322T>G" "r.(=)" "p.(=)" "" "0000264824" "00001470" "30" "5515" "0" "5515" "0" "c.*3889A>C" "r.(=)" "p.(=)" "" "0000264851" "00001470" "10" "5934" "0" "5934" "0" "c.*4308C>A" "r.(=)" "p.(=)" "" "0000264852" "00001470" "10" "5828" "0" "5828" "0" "c.*4202C>T" "r.(=)" "p.(=)" "" "0000264853" "00001470" "10" "5775" "0" "5775" "0" "c.*4149C>T" "r.(=)" "p.(=)" "" "0000264854" "00001470" "10" "5652" "0" "5652" "0" "c.*4026G>A" "r.(=)" "p.(=)" "" "0000264855" "00001470" "10" "5649" "0" "5649" "0" "c.*4023G>A" "r.(=)" "p.(=)" "" "0000267007" "00001470" "10" "5828" "0" "5828" "0" "c.*4202C>T" "r.(=)" "p.(=)" "" "0000270499" "00001470" "10" "5828" "0" "5828" "0" "c.*4202C>T" "r.(=)" "p.(=)" "" "0000274278" "00001470" "30" "5883" "0" "5883" "0" "c.*4257G>T" "r.(=)" "p.(=)" "" "0000280928" "00001470" "10" "1392" "0" "1392" "0" "c.1392C>G" "r.(?)" "p.(Ala464=)" "" "0000287970" "00001470" "30" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Arg517His)" "" "0000328753" "00001470" "50" "6103" "0" "6103" "0" "c.*4477C>T" "r.(=)" "p.(=)" "" "0000328755" "00001470" "50" "6031" "0" "6031" "0" "c.*4405C>T" "r.(=)" "p.(=)" "" "0000328756" "00001470" "30" "5934" "0" "5934" "0" "c.*4308C>A" "r.(=)" "p.(=)" "" "0000328757" "00001470" "30" "5862" "0" "5862" "0" "c.*4236G>A" "r.(=)" "p.(=)" "" "0000328758" "00001470" "30" "5850" "0" "5850" "0" "c.*4224G>C" "r.(=)" "p.(=)" "" "0000328759" "00001470" "30" "5836" "0" "5836" "0" "c.*4210G>A" "r.(=)" "p.(=)" "" "0000328760" "00001470" "30" "5648" "0" "5648" "0" "c.*4022C>T" "r.(=)" "p.(=)" "" "0000328761" "00001470" "30" "5631" "0" "5631" "0" "c.*4005C>T" "r.(=)" "p.(=)" "" "0000328762" "00001470" "50" "5614" "0" "5614" "0" "c.*3988G>A" "r.(=)" "p.(=)" "" "0000338203" "00001470" "10" "5413" "0" "5413" "0" "c.*3787G>A" "r.(=)" "p.(=)" "" "0000340149" "00001470" "10" "5934" "0" "5934" "0" "c.*4308C>A" "r.(=)" "p.(=)" "" "0000340150" "00001470" "10" "5907" "0" "5907" "0" "c.*4281T>C" "r.(=)" "p.(=)" "" "0000340151" "00001470" "10" "5652" "0" "5652" "0" "c.*4026G>A" "r.(=)" "p.(=)" "" "0000343402" "00001470" "70" "6143" "0" "6143" "0" "c.*4517G>A" "r.(=)" "p.(=)" "" "0000343862" "00001470" "50" "5628" "0" "5628" "0" "c.*4002G>T" "r.(=)" "p.(=)" "" "0000346295" "00001470" "30" "6113" "0" "6113" "0" "c.*4487C>T" "r.(=)" "p.(=)" "" "0000346329" "00001470" "10" "5828" "0" "5828" "0" "c.*4202C>T" "r.(=)" "p.(=)" "" "0000368855" "00001470" "70" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Pro331Alafs*2)" "" "0000571052" "00001470" "50" "6143" "0" "6143" "0" "c.*4517G>A" "r.(=)" "p.(=)" "" "0000571054" "00001470" "30" "6107" "0" "6107" "0" "c.*4481C>T" "r.(=)" "p.(=)" "" "0000571056" "00001470" "30" "6073" "0" "6073" "0" "c.*4447C>T" "r.(=)" "p.(=)" "" "0000571058" "00001470" "50" "6056" "0" "6056" "0" "c.*4430C>T" "r.(=)" "p.(=)" "" "0000571062" "00001470" "30" "6003" "0" "6003" "0" "c.*4377G>A" "r.(=)" "p.(=)" "" "0000571063" "00001470" "30" "5883" "0" "5883" "0" "c.*4257G>T" "r.(=)" "p.(=)" "" "0000571065" "00001470" "30" "5836" "0" "5836" "0" "c.*4210G>A" "r.(=)" "p.(=)" "" "0000571066" "00001470" "50" "5776" "0" "5776" "0" "c.*4150G>A" "r.(=)" "p.(=)" "" "0000571067" "00001470" "30" "5775" "0" "5775" "0" "c.*4149C>T" "r.(=)" "p.(=)" "" "0000571068" "00001470" "30" "5646" "0" "5646" "0" "c.*4020G>A" "r.(=)" "p.(=)" "" "0000571070" "00001470" "30" "1220" "0" "1220" "0" "c.1220C>A" "r.(?)" "p.(Thr407Lys)" "" "0000571071" "00001470" "30" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.(Ser402=)" "" "0000571073" "00001470" "50" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Pro331AlafsTer2)" "" "0000571074" "00001470" "50" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Pro331AlafsTer2)" "" "0000571075" "00001470" "30" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Cys)" "" "0000571076" "00001470" "50" "636" "4" "636" "4" "c.636+4A>G" "r.spl?" "p.?" "" "0000571077" "00001470" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ala156=)" "" "0000571078" "00001470" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Ala143=)" "" "0000571080" "00001470" "50" "95" "0" "95" "0" "c.95G>C" "r.(?)" "p.(Gly32Ala)" "" "0000618424" "00001470" "30" "6147" "0" "6147" "0" "c.*4521C>A" "r.(=)" "p.(=)" "" "0000618425" "00001470" "50" "6032" "0" "6032" "0" "c.*4406G>A" "r.(=)" "p.(=)" "" "0000618426" "00001470" "50" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Pro331AlafsTer2)" "" "0000618427" "00001470" "50" "153" "0" "153" "0" "c.153C>A" "r.(?)" "p.(Phe51Leu)" "" "0000624242" "00001470" "50" "77" "0" "77" "0" "c.77C>A" "r.(?)" "p.(Ala26Asp)" "" "0000650906" "00001470" "50" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Thr453Met)" "" "0000681758" "00001470" "50" "5788" "0" "5788" "0" "c.*4162G>A" "r.(=)" "p.(=)" "" "0000681759" "00001470" "30" "367" "6" "367" "6" "c.367+6C>T" "r.(=)" "p.(=)" "" "0000681760" "00001470" "70" "238" "1" "238" "1" "c.238+1G>T" "r.spl?" "p.?" "" "0000693080" "00001470" "30" "5745" "0" "5745" "0" "c.*4119G>A" "r.(=)" "p.(=)" "" "0000693081" "00001470" "30" "999" "0" "999" "0" "c.999A>C" "r.(?)" "p.(Arg333=)" "" "0000693082" "00001470" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Arg131=)" "" "0000693083" "00001470" "50" "273" "0" "273" "0" "c.273C>A" "r.(?)" "p.(Cys91Ter)" "" "0000727993" "00001470" "50" "6143" "0" "6143" "0" "c.*4517G>A" "r.(=)" "p.(=)" "" "0000727994" "00001470" "50" "6050" "0" "6061" "0" "c.*4424_*4435dup" "r.(=)" "p.(=)" "" "0000727995" "00001470" "50" "6040" "0" "6040" "0" "c.*4414G>T" "r.(=)" "p.(=)" "" "0000727996" "00001470" "50" "5846" "0" "5846" "0" "c.*4220C>T" "r.(=)" "p.(=)" "" "0000727997" "00001470" "50" "5696" "0" "5696" "0" "c.*4070C>T" "r.(=)" "p.(=)" "" "0000727998" "00001470" "70" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Pro331AlafsTer2)" "" "0000727999" "00001470" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Met)" "" "0000809444" "00001470" "30" "1497" "0" "1497" "0" "c.1497C>T" "r.(?)" "p.(Leu499=)" "" "0000809445" "00001470" "50" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Val374=)" "" "0000809446" "00001470" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Ala200Thr)" "" "0000833244" "00001470" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000833245" "00001470" "70" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Gly177Glu)" "" "0000856041" "00001470" "50" "1067" "0" "1067" "0" "c.1067dup" "r.(?)" "p.(Gly357Argfs*75)" "" "0000866690" "00001470" "50" "5836" "0" "5836" "0" "c.*4210G>A" "r.(=)" "p.(=)" "" "0000866691" "00001470" "30" "5760" "0" "5760" "0" "c.*4134C>T" "r.(=)" "p.(=)" "" "0000866692" "00001470" "30" "5651" "0" "5651" "0" "c.*4025C>T" "r.(=)" "p.(=)" "" "0000866693" "00001470" "30" "5588" "0" "5588" "0" "c.*3962T>G" "r.(=)" "p.(=)" "" "0000866694" "00001470" "50" "1628" "4" "1628" "4" "c.*2+4C>T" "r.spl?" "p.?" "" "0000895552" "00001470" "10" "6204" "0" "6204" "0" "c.*4578G>A" "r.(=)" "p.(=)" "" "0000895553" "00001470" "30" "5948" "0" "5948" "0" "c.*4322T>G" "r.(=)" "p.(=)" "" "0000895554" "00001470" "50" "5693" "0" "5693" "0" "c.*4067C>T" "r.(=)" "p.(=)" "" "0000915472" "00001470" "30" "6024" "0" "6024" "0" "c.*4398G>A" "r.(=)" "p.(=)" "" "0000927102" "00001470" "30" "5970" "0" "5970" "0" "c.*4344C>T" "r.(=)" "p.(=)" "" "0000927103" "00001470" "50" "5855" "0" "5855" "0" "c.*4229T>C" "r.(=)" "p.(=)" "" "0000970349" "00001470" "30" "6046" "0" "6046" "0" "c.*4420C>T" "r.(=)" "p.(=)" "" "0000970352" "00001470" "30" "5836" "0" "5836" "0" "c.*4210G>A" "r.(=)" "p.(=)" "" "0000984044" "00001470" "50" "6080" "0" "6080" "0" "c.*4454T>C" "r.(=)" "p.(=)" "" "0000984045" "00001470" "50" "6047" "0" "6047" "0" "c.*4421G>A" "r.(=)" "p.(=)" "" "0000984046" "00001470" "50" "6008" "0" "6008" "0" "c.*4382C>T" "r.(=)" "p.(=)" "" "0000984047" "00001470" "50" "5846" "0" "5846" "0" "c.*4220C>T" "r.(=)" "p.(=)" "" "0000984048" "00001470" "50" "5843" "0" "5843" "0" "c.*4217G>A" "r.(=)" "p.(=)" "" "0000984049" "00001470" "50" "5696" "0" "5696" "0" "c.*4070C>T" "r.(=)" "p.(=)" "" "0000984050" "00001470" "30" "5687" "0" "5687" "0" "c.*4061T>C" "r.(=)" "p.(=)" "" "0000984051" "00001470" "30" "5649" "0" "5649" "0" "c.*4023G>A" "r.(=)" "p.(=)" "" "0000984052" "00001470" "50" "5608" "0" "5608" "0" "c.*3982G>C" "r.(=)" "p.(=)" "" "0000984053" "00001470" "90" "1366" "0" "1366" "0" "c.1366dup" "r.(?)" "p.(Glu456Glyfs*56)" "" "0000984054" "00001470" "30" "1099" "-5" "1099" "-5" "c.1099-5C>T" "r.spl?" "p.?" "" "0000984055" "00001470" "30" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Cys)" "" "0001005843" "00001470" "50" "5768" "0" "5768" "0" "c.*4142C>T" "r.(=)" "p.(=)" "" "0001005844" "00001470" "50" "5654" "0" "5654" "0" "c.*4028G>C" "r.(=)" "p.(=)" "" "0001005845" "00001470" "50" "5602" "0" "5602" "0" "c.*3976A>C" "r.(=)" "p.(=)" "" "0001005846" "00001470" "50" "95" "0" "95" "0" "c.95G>C" "r.(?)" "p.(Gly32Ala)" "" "0001043668" "00001470" "30" "5862" "0" "5862" "0" "c.*4236G>A" "r.(=)" "p.(=)" "" "0001043669" "00001470" "50" "5858" "0" "5858" "0" "c.*4232T>G" "r.(=)" "p.(=)" "" "0001043670" "00001470" "30" "969" "-10" "969" "-10" "c.969-10C>T" "r.(=)" "p.(=)" "" "0001043671" "00001470" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" "" "0001043672" "00001470" "50" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ala156=)" "" "0001043673" "00001470" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "" "0001057048" "00001470" "50" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0001057049" "00001470" "50" "319" "0" "319" "0" "c.319T>C" "r.(?)" "p.(Cys107Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006031" "0000000210" "0000013970" "0000165213" "0000368855" "0000294217" "0000650906" "0000400394" "0000833244" "0000400394" "0000833245"