### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL13A1) # 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}}" "COL13A1" "collagen, type XIII, alpha 1" "10" "q22" "unknown" "NC_000010.10" "UD_136021042881" "" "https://www.LOVD.nl/COL13A1" "" "1" "2190" "1305" "120350" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/COL13A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-19 12:33:11" "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}}" "00005488" "COL13A1" "transcript variant 1" "001" "NM_001130103.1" "" "NP_001123575.1" "" "" "" "-536" "2601" "2154" "71561644" "71718904" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "05239" "CMS19" "myasthenic syndrome, congenital, type 19 (CMS-19)" "AR" "616720" "" "" "" "00006" "2017-03-19 12:35:33" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COL13A1" "05239" ## 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}}" "00065207" "" "" "" "1" "" "01604" "{PMID:Logan 2016:26626625}, {DOI:Logan 2016:10.1016/j.ajhg.2015.10.017}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "no" "United Kingdom (Great Britain)" ">02y" "0" "" "combination of 3,4-diaminopyridine, salbutamol, non-invasive ventilation and pyridostigmine" "white, European" "26626625-Fam1PatII1" "00065215" "" "" "" "2" "" "01604" "{PMID:Logan 2016:26626625}, {DOI:Logan 2016:10.1016/j.ajhg.2015.10.017}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" ">27y" "0" "" "" "Indian" "26626625-Fam2PatII1" "00065217" "" "" "00065215" "1" "" "01604" "{PMID:Logan 2016:26626625}, {DOI:Logan 2016:10.1016/j.ajhg.2015.10.017}" "" "F" "yes" "United Kingdom (Great Britain)" "08y" "0" "" "Non-invasive ventilation and pyridostigmine treatment" "Indian" "26626625-Fam2PatII2" "00406654" "" "" "" "1" "" "04292" "" "" "F" "" "" "" "" "" "" "" "24" "00426116" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "18DF5800" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00065207" "04312" "00065215" "04312" "00065217" "04312" "00406654" "05239" "00426116" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04312, 05239 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000051320" "04312" "00065207" "01604" "Familial, autosomal recessive" "00y05m" "breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), no facial weakness (-HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), no spinal rigidity (-HP:0003306), dysmorphic features (HP:0001999), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), variation in fiber size (HP:0003557), generalized hypotonia (HP:0001290), gastroesophageal reflux (HP:0002020)" "00y00m" "" "recurrent apneas (HP:0002104), poor suck (HP:0002033)" "" "" "" "" "" "" "0000051324" "04312" "00065215" "01604" "Familial, autosomal recessive" "24y" "feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), facial weakness (HP:0010628), no bulbar weakness (-HP:0001283), no proximal weakness upper limbs (-HP:0008997), no proximal weakness lower limbs (-HP:0008994), distal weakness upper limbs (HP:0008959), no distal weakness lower limbs (-HP:0009053), right axial weakness (HP:0003327), no distal-joint laxity (-HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), mild learning difficulties (HP:0001328), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), dyspnoea on exertion (HP:0001328), recurrent chest infections (HP:0002783)" "00y00m" "" "" "" "" "" "" "" "" "0000051325" "04312" "00065217" "01604" "Familial, autosomal recessive" "05y" "breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), right ophthalmoparesis (HP:0000597), facial weakness (HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), lower-respiratory-tract infection (HP:0002783), chronic lung disease (HP:0006528), hiatus and diaphragmatic hernia (HP:0002036), recurrent chest infection (HP:0002783)" "00y00m" "" "severe breathing (HP:0002094) and feeding (HP:0011968) difficulties" "" "" "" "" "" "" "0000317266" "00139" "00426116" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "Myasthenic syndrome, congenital, 19" "intellectual disability" ## 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}}" "0000065366" "00065207" "1" "01604" "01604" "2016-05-23 11:23:19" "" "" "IHC;SEQ;SEQ-NG-I;SEQ-NG-R;Western" "DNA" "" "" "0000065369" "00065215" "1" "01604" "01604" "2016-05-23 11:34:18" "" "" "IHC;SEQ;SEQ-NG-I;SEQ-NG-R;Western" "DNA" "" "" "0000065370" "00065217" "1" "01604" "01604" "2016-05-23 11:44:58" "" "" "IHC;SEQ;SEQ-NG-I;SEQ-NG-R;Western" "DNA" "" "" "0000407901" "00406654" "1" "04292" "04292" "2022-04-03 15:08:27" "00006" "2022-04-04 13:55:18" "SEQ" "DNA" "" "" "0000427436" "00426116" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000065366" "COL13A1" "0000065369" "COL13A1" "0000065370" "COL13A1" ## 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 = 40 "{{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}}" "0000097042" "3" "90" "10" "71682526" "71682526" "del" "0" "01604" "COL13A1_000002" "g.71682526del" "" "{PMID:Logan 2016:26626625}, {DOI:Logan 2016:10.1016/j.ajhg.2015.10.017}, {OMIM120350:0001}" "" "1171delG" "" "Germline" "" "rs864309662" "0" "" "" "g.69922770del" "" "pathogenic" "" "0000097045" "3" "90" "10" "71648061" "71648061" "del" "0" "01604" "COL13A1_000001" "g.71648061del" "" "{PMID:Logan 2016:26626625}, {DOI:Logan 2016:10.1016/j.ajhg.2015.10.017}, {OMIM120350:0002}" "" "523-1delG" "" "Germline" "yes" "rs864309663" "0" "" "" "g.69888305del" "" "pathogenic" "" "0000097046" "3" "90" "10" "71648061" "71648061" "del" "0" "01604" "COL13A1_000001" "g.71648061del" "" "{PMID:Logan 2016:26626625}, {DOI:Logan 2016:10.1016/j.ajhg.2015.10.017}, {OMIM120350:0002}" "" "523-1delG" "" "Germline" "yes" "rs864309663" "0" "" "" "g.69888305del" "" "pathogenic" "" "0000346094" "0" "50" "10" "71688693" "71688693" "subst" "0" "02327" "COL13A1_000003" "g.71688693G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69928937G>A" "" "VUS" "" "0000346129" "0" "50" "10" "71690184" "71690184" "subst" "0" "02327" "COL13A1_000004" "g.71690184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69930428G>A" "" "VUS" "" "0000540554" "0" "50" "10" "71649191" "71649191" "subst" "9.11978E-5" "01804" "COL13A1_000006" "g.71649191G>A" "" "" "" "COL13A1(NM_001130103.1):c.571G>A (p.(Asp191Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69889435G>A" "" "VUS" "" "0000540555" "0" "30" "10" "71662507" "71662507" "subst" "0.00568235" "01804" "COL13A1_000007" "g.71662507G>A" "" "" "" "COL13A1(NM_001130103.1):c.784G>A (p.(Glu262Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69902751G>A" "" "likely benign" "" "0000540556" "0" "50" "10" "71662609" "71662609" "subst" "0.000186275" "01943" "COL13A1_000008" "g.71662609C>T" "" "" "" "COL13A1(NM_001130103.1):c.886C>T (p.P296S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69902853C>T" "" "VUS" "" "0000540558" "0" "30" "10" "71665574" "71665574" "subst" "0.000203874" "01804" "COL13A1_000010" "g.71665574G>A" "" "" "" "COL13A1(NM_001130103.1):c.947G>A (p.(Arg316Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69905818G>A" "" "likely benign" "" "0000540560" "0" "30" "10" "71678078" "71678078" "subst" "0.000561642" "01804" "COL13A1_000012" "g.71678078G>A" "" "" "" "COL13A1(NM_001130103.1):c.1029+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69918322G>A" "" "likely benign" "" "0000540561" "0" "30" "10" "71697388" "71697388" "subst" "0.00573625" "01804" "COL13A1_000013" "g.71697388C>T" "" "" "" "COL13A1(NM_001130103.1):c.1765-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69937632C>T" "" "likely benign" "" "0000540562" "0" "30" "10" "71705461" "71705461" "subst" "8.19659E-6" "01943" "COL13A1_000014" "g.71705461C>T" "" "" "" "COL13A1(NM_001130103.1):c.1970C>T (p.T657M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69945705C>T" "" "likely benign" "" "0000540565" "0" "30" "10" "71716804" "71716804" "subst" "0" "01804" "COL13A1_000017" "g.71716804G>T" "" "" "" "COL13A1(NM_001130103.1):c.2151+6G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69957048G>T" "" "likely benign" "" "0000612594" "0" "30" "10" "71582188" "71582188" "subst" "0.00505665" "01804" "COL13A1_000018" "g.71582188C>T" "" "" "" "COL13A1(NM_001130103.1):c.358C>T (p.(Pro120Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69822432C>T" "" "likely benign" "" "0000612595" "0" "50" "10" "71678078" "71678078" "subst" "0.000561642" "02329" "COL13A1_000012" "g.71678078G>A" "" "" "" "COL13A1(NM_001130103.1):c.1029+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69918322G>A" "" "VUS" "" "0000612596" "0" "30" "10" "71716753" "71716753" "subst" "0.0169911" "01804" "COL13A1_000019" "g.71716753C>T" "" "" "" "COL13A1(NM_001130103.1):c.2113-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69956997C>T" "" "likely benign" "" "0000678884" "0" "70" "10" "71662556" "71662556" "dup" "0" "01804" "COL13A1_000020" "g.71662556dup" "" "" "" "COL13A1(NM_001130103.1):c.833dup (p.(Gly279TrpfsTer67))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678885" "0" "50" "10" "71690259" "71690259" "subst" "0.000418798" "01804" "COL13A1_000021" "g.71690259G>T" "" "" "" "COL13A1(NM_001130103.1):c.1601G>T (p.(Ser534Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722897" "0" "50" "10" "71703882" "71703882" "subst" "0" "01943" "COL13A1_000022" "g.71703882G>A" "" "" "" "COL13A1(NM_001130103.1):c.1883G>A (p.G628D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804500" "0" "10" "10" "71640274" "71640274" "subst" "0.00683507" "01804" "COL13A1_000023" "g.71640274G>A" "" "" "" "COL13A1(NM_001130103.1):c.451G>A (p.(Ala151Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000844730" "3" "90" "10" "71658452" "71658452" "subst" "0" "04292" "COL13A1_000024" "g.71658452G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000861954" "0" "30" "10" "71647200" "71647200" "subst" "0" "02326" "COL13A1_000025" "g.71647200T>C" "" "" "" "COL13A1(NM_001130103.2):c.487-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904796" "3" "70" "10" "71658477" "71658477" "subst" "0" "00006" "COL13A1_000026" "g.71658477C>T" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_080798.4:c.568C>T (Arg190Ter)" "" "Germline" "" "rs769673346" "0" "" "" "g.69898721C>T" "VCV001324099.1" "likely pathogenic (recessive)" "" "0000965799" "0" "30" "10" "71582198" "71582198" "dup" "0" "02326" "COL13A1_000027" "g.71582198dup" "" "" "" "COL13A1(NM_001130103.2):c.364+4dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965801" "0" "30" "10" "71658478" "71658478" "subst" "0.00088304" "02326" "COL13A1_000028" "g.71658478G>A" "" "" "" "COL13A1(NM_001130103.2):c.740G>A (p.R247Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965804" "0" "30" "10" "71712697" "71712697" "subst" "0.00100819" "02326" "COL13A1_000016" "g.71712697G>A" "" "" "" "COL13A1(NM_001130103.2):c.2085G>A (p.A695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979103" "0" "50" "10" "71562291" "71562291" "subst" "9.81043E-5" "01804" "COL13A1_000029" "g.71562291C>T" "" "" "" "COL13A1(NM_001368882.1):c.112C>T (p.(Arg38Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979104" "0" "50" "10" "71637822" "71637822" "subst" "0" "01804" "COL13A1_000030" "g.71637822G>T" "" "" "" "COL13A1(NM_001368882.1):c.462+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979105" "0" "50" "10" "71690163" "71690163" "subst" "1.69223E-5" "01804" "COL13A1_000031" "g.71690163G>A" "" "" "" "COL13A1(NM_001368882.1):c.1538G>A (p.(Arg513His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979106" "0" "30" "10" "71695147" "71695147" "subst" "0.00209638" "01804" "COL13A1_000032" "g.71695147G>A" "" "" "" "COL13A1(NM_001368882.1):c.1770G>A (p.(Pro590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979107" "0" "50" "10" "71695152" "71695152" "subst" "0" "01804" "COL13A1_000033" "g.71695152G>C" "" "" "" "COL13A1(NM_001368882.1):c.1770+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998476" "0" "50" "10" "71703911" "71703911" "subst" "0" "01804" "COL13A1_000034" "g.71703911C>A" "" "" "" "COL13A1(NM_001130103.1):c.1912C>A (p.(Pro638Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025761" "0" "90" "10" "71640309" "71640309" "del" "4.07554E-6" "02329" "COL13A1_000035" "g.71640309del" "" "" "" "COL13A1(NM_001368882.1):c.513delT (p.G172Vfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037962" "0" "30" "10" "71582204" "71582204" "subst" "0.000516427" "01804" "COL13A1_000036" "g.71582204C>T" "" "" "" "COL13A1(NM_001368882.1):c.364+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037963" "0" "10" "10" "71685557" "71685557" "subst" "0.0353105" "01804" "COL13A1_000037" "g.71685557C>T" "" "" "" "COL13A1(NM_001368882.1):c.1330-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037964" "0" "50" "10" "71690308" "71690308" "subst" "4.92207E-5" "01804" "COL13A1_000038" "g.71690308G>A" "" "" "" "COL13A1(NM_001368882.1):c.1683G>A (p.(Pro561=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037965" "0" "30" "10" "71697471" "71697471" "subst" "0.000431624" "01804" "COL13A1_000039" "g.71697471C>T" "" "" "" "COL13A1(NM_001368882.1):c.1878C>T (p.(Pro626=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037966" "0" "50" "10" "71703929" "71703929" "subst" "2.03244E-5" "01804" "COL13A1_000040" "g.71703929G>A" "" "" "" "COL13A1(NM_001368882.1):c.1963G>A (p.(Glu655Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053568" "0" "30" "10" "71647214" "71647214" "subst" "0" "01804" "COL13A1_000041" "g.71647214T>C" "" "" "" "COL13A1(NM_001368882.1):c.516T>C (p.(Gly172=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053569" "0" "50" "10" "71658508" "71658508" "subst" "3.26483E-5" "01804" "COL13A1_000042" "g.71658508G>A" "" "" "" "COL13A1(NM_001368882.1):c.740G>A (p.(Arg247Gln))" "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 COL13A1 ## Count = 40 "{{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}}" "0000097042" "00005488" "90" "1173" "0" "1173" "0" "c.1173del" "r.(?)" "p.(Leu392Serfs*71)" "22" "0000097045" "00005488" "90" "524" "0" "524" "0" "c.524del" "r.spl?" "p.(Gly175Valfs*20)" "7" "0000097046" "00005488" "90" "524" "0" "524" "0" "c.524del" "r.spl" "p.(Gly175Valfs*20)" "7" "0000346094" "00005488" "50" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Gly464Arg)" "" "0000346129" "00005488" "50" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "" "0000540554" "00005488" "50" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Asp191Asn)" "" "0000540555" "00005488" "30" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Glu262Lys)" "" "0000540556" "00005488" "50" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Pro296Ser)" "" "0000540558" "00005488" "30" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316Gln)" "" "0000540560" "00005488" "30" "1029" "5" "1029" "5" "c.1029+5G>A" "r.spl?" "p.?" "" "0000540561" "00005488" "30" "1765" "-3" "1765" "-3" "c.1765-3C>T" "r.spl?" "p.?" "" "0000540562" "00005488" "30" "1970" "0" "1970" "0" "c.1970C>T" "r.(?)" "p.(Thr657Met)" "" "0000540565" "00005488" "30" "2151" "6" "2151" "6" "c.2151+6G>T" "r.(=)" "p.(=)" "" "0000612594" "00005488" "30" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Pro120Ser)" "" "0000612595" "00005488" "50" "1029" "5" "1029" "5" "c.1029+5G>A" "r.spl?" "p.?" "" "0000612596" "00005488" "30" "2113" "-7" "2113" "-7" "c.2113-7C>T" "r.(=)" "p.(=)" "" "0000678884" "00005488" "70" "833" "0" "833" "0" "c.833dup" "r.(?)" "p.(Gly279TrpfsTer67)" "" "0000678885" "00005488" "50" "1601" "0" "1601" "0" "c.1601G>T" "r.(?)" "p.(Ser534Ile)" "" "0000722897" "00005488" "50" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Gly628Asp)" "" "0000804500" "00005488" "10" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Ala151Thr)" "" "0000844730" "00005488" "90" "715" "-1" "715" "-1" "c.715-1G>A" "r.spl?" "p.?" "" "0000861954" "00005488" "30" "487" "-12" "487" "-12" "c.487-12T>C" "r.(=)" "p.(=)" "" "0000904796" "00005488" "70" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "" "0000965799" "00005488" "30" "364" "4" "364" "4" "c.364+4dup" "r.spl?" "p.?" "" "0000965801" "00005488" "30" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "" "0000965804" "00005488" "30" "2085" "0" "2085" "0" "c.2085G>A" "r.(?)" "p.(Ala695=)" "" "0000979103" "00005488" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000979104" "00005488" "50" "436" "-2437" "436" "-2437" "c.436-2437G>T" "r.(=)" "p.(=)" "" "0000979105" "00005488" "50" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502His)" "" "0000979106" "00005488" "30" "1737" "0" "1737" "0" "c.1737G>A" "r.(?)" "p.(=)" "" "0000979107" "00005488" "50" "1737" "5" "1737" "5" "c.1737+5G>C" "r.spl?" "p.?" "" "0000998476" "00005488" "50" "1912" "0" "1912" "0" "c.1912C>A" "r.(?)" "p.(Pro638Thr)" "" "0001025761" "00005488" "90" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Gly163Valfs*32)" "" "0001037962" "00005488" "30" "364" "10" "364" "10" "c.364+10C>T" "r.(=)" "p.(=)" "" "0001037963" "00005488" "10" "1297" "-3" "1297" "-3" "c.1297-3C>T" "r.spl?" "p.?" "" "0001037964" "00005488" "50" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(=)" "" "0001037965" "00005488" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(=)" "" "0001037966" "00005488" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Glu644Lys)" "" "0001053568" "00005488" "30" "489" "0" "489" "0" "c.489T>C" "r.(?)" "p.(=)" "" "0001053569" "00005488" "50" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000065366" "0000097042" "0000065369" "0000097045" "0000065370" "0000097046" "0000407901" "0000844730" "0000427436" "0000904796"