### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL4A3BP)
# 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}}"
"COL4A3BP" "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein" "5" "q13.3" "unknown" "NC_000005.9" "UD_132118557523" "" "https://www.LOVD.nl/CERT1" "" "1" "2205" "10087" "604677" "1" "1" "1" "1" "alias COL4A3BP.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/COL4A3BP_codingDNA.html" "1" "" "" "-1" "NOTE: gene name changed from COL4A3BP to CERT1" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-10-26 16:58:55" "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}}"
"00025475" "COL4A3BP" "transcript variant 3" "001" "NM_001130105.1" "" "NP_001123577.1" "" "" "" "-137" "5357" "2259" "74807806" "74666928" "00006" "2019-10-26 16:59:33" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"04425" "MRD34" "mental retardation, autosomal dominant, type 34 (MRD-34)" "AD" "616351" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32"
"05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"COL4A3BP" "04425"
## Individuals ## Do not remove or alter this header ##
## Count = 9
"{{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" "" "" "" ""
"00050369" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00050410" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00050589" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00183071" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio79"
"00266627" "" "" "" "1" "" "00006" "contact me for details" "patient reported by parent" "M" "" "Poland" "" "0" "" "" "" "private email"
"00293904" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00302786" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "1312.477"
"00325363" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00050369" "00198"
"00050410" "00198"
"00050589" "00198"
"00183071" "00139"
"00266627" "05162"
"00293904" "00198"
"00302786" "00139"
"00325363" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 04425, 05162
## Count = 8
"{{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}}"
"0000036981" "00198" "00050369" "00006" "Isolated (sporadic)" "" "upslanted palpebral fissure, epicanthus, synophrys, anteverted nares, widely spaced teeth, stereotypic behavior, postnatal microcephaly, oligohydramnios" "" "" "" "" "" "" "" "" "" "" ""
"0000037022" "00198" "00050410" "00006" "Isolated (sporadic)" "" "muscular hypotonia of the trunk, global developmental delay, epicanthus, smooth philtrum, wide intermamillary distance, 2-3 toe syndactyly, small feet, myopathic facies, generalized tonic-clonic seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000037201" "00198" "00050589" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development, broad-based gait, bruxism, drooling, cortical visual impairment, bilateral ptosis, coarse hair, curly hair, hearing impairment, generalized tonic-clonic seizures" "" "" "" "" "" "" "" "" "" "" ""
"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" "" "" "" "" "" "" "" "" ""
"0000143824" "00139" "00183071" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" ""
"0000204362" "05162" "00266627" "00006" "Unknown" "00y18m" "global development delay" "" "" "" "" "" "" "" "" "" "global development delay" ""
"0000229868" "00139" "00302786" "00006" "Isolated (sporadic)" "21y" "severe intellectual disability; no speech; walk-5y; epilepsy; autistic features; no microcephaly; no macrocephaly; CT brain ventriculomegaly with PVL (periventricular leukomalacia); no neurological abnormalities; congenitial malformations; no cardiac malformations; unilateral kidney agenesis; hyperlax, Ehler\'s Danlos diagnosis based on biopsy, behavioural issues on antipsychotics" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000243849" "00198" "00325363" "01807" "Unknown" "" "Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Absent speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 9
"{{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" "" ""
"0000050314" "00050369" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000050355" "00050410" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000050534" "00050589" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000184031" "00183071" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000267754" "00266627" "1" "00006" "00006" "2019-10-26 17:08:27" "" "" "SEQ-NG" "DNA" "" "WES"
"0000295072" "00293904" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000303912" "00302786" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES"
"0000326573" "00325363" "1" "01807" "01807" "2020-12-30 12:59:01" "00001" "2020-12-30 13:19:10" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000050314" "COL4A3BP"
"0000050355" "COL4A3BP"
"0000050534" "COL4A3BP"
"0000267754" "COL4A3BP"
"0000303912" "COL4A3BP"
## 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 = 47
"{{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}}"
"0000002381" "3" "50" "5" "74670040" "74670041" "del" "0" "00037" "COL4A3BP_000003" "g.74670040_74670041del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75374215_75374216del" "" "VUS" ""
"0000004164" "0" "50" "5" "74670429" "74670429" "subst" "0" "00037" "COL4A3BP_000002" "g.74670429G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75374604G>A" "" "VUS" ""
"0000079294" "0" "90" "5" "74722257" "74722257" "subst" "0" "00006" "COL4A3BP_000004" "g.74722257G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75426432G>A" "" "pathogenic" ""
"0000079335" "0" "90" "5" "74722257" "74722257" "subst" "0" "00006" "COL4A3BP_000004" "g.74722257G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75426432G>A" "" "pathogenic" ""
"0000079514" "0" "90" "5" "74722257" "74722257" "subst" "0" "00006" "COL4A3BP_000004" "g.74722257G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75426432G>A" "" "pathogenic" ""
"0000270408" "0" "30" "5" "74806949" "74806949" "subst" "2.70129E-5" "02326" "COL4A3BP_000007" "g.74806949C>T" "" "" "" "CERT1(NM_001130105.1):c.468G>A (p.G156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75511124C>T" "" "likely benign" ""
"0000274188" "0" "50" "5" "74712820" "74712820" "subst" "0" "01943" "COL4A3BP_000005" "g.74712820C>T" "" "" "" "COL4A3BP(NM_001130105.1):c.1102G>A (p.D368N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75416995C>T" "" "VUS" ""
"0000274189" "0" "30" "5" "74807112" "74807112" "subst" "0.000414675" "01943" "COL4A3BP_000008" "g.74807112G>A" "" "" "" "COL4A3BP(NM_001130105.1):c.305C>T (p.P102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75511287G>A" "" "likely benign" ""
"0000346035" "0" "90" "5" "74712810" "74712810" "subst" "0" "02327" "COL4A3BP_000011" "g.74712810C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75416985C>T" "" "pathogenic" ""
"0000350089" "0" "50" "5" "74706894" "74706894" "subst" "0" "02327" "COL4A3BP_000010" "g.74706894T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75411069T>C" "" "VUS" ""
"0000407969" "0" "70" "5" "74722239" "74722239" "subst" "0" "00006" "COL4A3BP_000012" "g.74722239G>C" "" "{PMID:de Ligt 2012:23033978}" "" "NM_001130105.1:c.797C>G (Ser266Cys)" "candidate variant" "De novo" "" "" "0" "" "" "g.75426414G>C" "" "likely pathogenic" ""
"0000526014" "0" "30" "5" "74670040" "74670041" "del" "0" "01804" "COL4A3BP_000003" "g.74670040_74670041del" "" "" "" "COL4A3BP(NM_001130105.1):c.*10-9_*10-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75374215_75374216del" "" "likely benign" ""
"0000526015" "0" "10" "5" "74670041" "74670041" "del" "0" "01943" "COL4A3BP_000013" "g.74670041del" "" "" "" "COL4A3BP(NM_001130105.1):c.*10-8del (p.(=)), COL4A3BP(NM_001130105.1):c.*10-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75374216del" "" "benign" ""
"0000526016" "0" "30" "5" "74670041" "74670041" "del" "0" "01804" "COL4A3BP_000013" "g.74670041del" "" "" "" "COL4A3BP(NM_001130105.1):c.*10-8del (p.(=)), COL4A3BP(NM_001130105.1):c.*10-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75374216del" "" "likely benign" ""
"0000526017" "0" "30" "5" "74677774" "74677774" "subst" "0" "02325" "COL4A3BP_000014" "g.74677774A>G" "" "" "" "CERT1(NM_001130105.1):c.2001T>C (p.P667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75381949A>G" "" "likely benign" ""
"0000526019" "0" "50" "5" "74696043" "74696043" "subst" "0" "02327" "COL4A3BP_000016" "g.74696043C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75400218C>G" "" "VUS" ""
"0000526020" "0" "70" "5" "74712811" "74712811" "subst" "0" "02327" "COL4A3BP_000017" "g.74712811C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75416986C>T" "" "likely pathogenic" ""
"0000526022" "0" "50" "5" "74754959" "74754959" "subst" "0" "02327" "COL4A3BP_000019" "g.74754959A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75459134A>C" "" "VUS" ""
"0000526023" "0" "30" "5" "74807037" "74807037" "subst" "8.28658E-6" "01804" "COL4A3BP_000020" "g.74807037G>A" "" "" "" "COL4A3BP(NM_001130105.1):c.380C>T (p.(Ala127Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75511212G>A" "" "likely benign" ""
"0000526024" "0" "50" "5" "74807071" "74807071" "subst" "8.82729E-6" "01804" "COL4A3BP_000021" "g.74807071C>A" "" "" "" "COL4A3BP(NM_001130105.1):c.346G>T (p.(Gly116*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75511246C>A" "" "VUS" ""
"0000526026" "0" "30" "5" "74807617" "74807617" "subst" "1.98939E-5" "01804" "COL4A3BP_000023" "g.74807617G>A" "" "" "" "COL4A3BP(NM_001130105.1):c.53C>T (p.(Ala18Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75511792G>A" "" "likely benign" ""
"0000526027" "0" "30" "5" "74807640" "74807640" "subst" "5.31392E-5" "01943" "COL4A3BP_000024" "g.74807640G>A" "" "" "" "COL4A3BP(NM_001130105.1):c.30C>T (p.P10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75511815G>A" "" "likely benign" ""
"0000599280" "0" "70" "5" "74722239" "74722239" "subst" "0" "00006" "COL4A3BP_000012" "g.74722239G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75426414G>C" "" "VUS" "ACMG"
"0000609792" "0" "30" "5" "74670039" "74670041" "del" "0" "01804" "POLK_000001" "g.74670039_74670041del" "" "" "" "COL4A3BP(NM_001130105.1):c.*10-10_*10-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75374214_75374216del" "" "likely benign" ""
"0000651761" "1" "30" "5" "74807116" "74807116" "subst" "0.00971215" "03575" "COL4A3BP_000025" "g.74807116C>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs5744539}" "Germline" "" "rs5744539" "0" "" "" "g.75511291C>T" "" "likely benign" ""
"0000655410" "0" "30" "5" "74675302" "74675302" "subst" "0.000104217" "02325" "POLK_000003" "g.74675302C>T" "" "" "" "CERT1(NM_001130105.1):c.2132-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75379477C>T" "" "likely benign" ""
"0000667314" "0" "70" "5" "74712811" "74712811" "subst" "0" "00006" "COL4A3BP_000017" "g.74712811C>T" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.75416986C>T" "" "pathogenic (dominant)" ""
"0000677545" "0" "30" "5" "74807615" "74807615" "subst" "0.000331561" "01943" "POLK_000004" "g.74807615A>C" "" "" "" "COL4A3BP(NM_001130105.1):c.55T>G (p.F19V, p.(Phe19Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689546" "0" "30" "5" "74721308" "74721308" "subst" "0.000773114" "01943" "COL4A3BP_000006" "g.74721308C>T" "" "" "" "COL4A3BP(NM_001130105.1):c.857G>A (p.R286H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000709992" "0" "70" "5" "74722239" "74722239" "subst" "0" "01807" "COL4A3BP_000026" "g.74722239G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000720492" "0" "50" "5" "74712697" "74712697" "subst" "8.79152E-6" "02329" "POLK_000005" "g.74712697T>C" "" "" "" "CERT1(NM_005713.3):c.837+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802177" "0" "30" "5" "74698788" "74698788" "subst" "4.12538E-6" "01943" "POLK_000006" "g.74698788T>C" "" "" "" "COL4A3BP(NM_001130105.1):c.1401+9A>G, COL4A3BP(NM_001379029.1):c.1017+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802178" "0" "30" "5" "74722315" "74722315" "dup" "0" "01943" "COL4A3BP_000018" "g.74722315dup" "" "" "" "COL4A3BP(NM_001130105.1):c.733-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802179" "0" "50" "5" "74807214" "74807214" "subst" "1.44993E-5" "01943" "POLK_000007" "g.74807214G>C" "" "" "" "COL4A3BP(NM_001130105.1):c.203C>G (p.A68G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850961" "0" "50" "5" "74706915" "74706919" "del" "0" "01943" "POLK_000008" "g.74706915_74706919del" "" "" "" "COL4A3BP(NM_001130105.1):c.1236_1240delAAGAA (p.R413Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000886903" "0" "50" "5" "74677007" "74677007" "subst" "1.63312E-5" "02325" "POLK_000009" "g.74677007C>T" "" "" "" "CERT1(NM_001130105.1):c.2021G>A (p.R674H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995165" "0" "50" "5" "74681777" "74681777" "subst" "0" "01804" "POLK_000010" "g.74681777T>C" "" "" "" "COL4A3BP(NM_001130105.1):c.1751A>G (p.(His584Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995166" "0" "30" "5" "74807275" "74807275" "subst" "7.79229E-6" "01804" "POLK_000011" "g.74807275C>T" "" "" "" "COL4A3BP(NM_001130105.1):c.142G>A (p.(Ala48Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000995167" "0" "30" "5" "74807615" "74807615" "subst" "0.000331561" "01804" "POLK_000004" "g.74807615A>C" "" "" "" "COL4A3BP(NM_001130105.1):c.55T>G (p.F19V, p.(Phe19Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014144" "0" "50" "5" "74801844" "74801844" "subst" "0" "02327" "POLK_000012" "g.74801844C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035308" "0" "30" "5" "74664751" "74664752" "ins" "0" "01804" "POLK_000013" "g.74664751_74664752insGT" "" "" "" "COL4A3BP(NM_005713.3):c.*5275_*5276insCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035309" "0" "30" "5" "74683216" "74683216" "subst" "0" "01804" "POLK_000014" "g.74683216T>C" "" "" "" "COL4A3BP(NM_001379029.1):c.1285-1357A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035310" "0" "30" "5" "74698788" "74698788" "subst" "4.12538E-6" "01804" "POLK_000006" "g.74698788T>C" "" "" "" "COL4A3BP(NM_001130105.1):c.1401+9A>G, COL4A3BP(NM_001379029.1):c.1017+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035311" "0" "30" "5" "74715189" "74715189" "subst" "1.22068E-5" "01804" "POLK_000015" "g.74715189C>T" "" "" "" "COL4A3BP(NM_001379029.1):c.656G>A (p.(Ser219Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035312" "0" "30" "5" "74722520" "74722520" "subst" "0" "01804" "POLK_000016" "g.74722520G>A" "" "" "" "COL4A3BP(NM_001379029.1):c.349-217C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035313" "0" "50" "5" "74754910" "74754910" "subst" "4.06934E-6" "01804" "POLK_000017" "g.74754910C>A" "" "" "" "COL4A3BP(NM_001379029.1):c.328G>T (p.(Asp110Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035314" "0" "30" "5" "74807253" "74807253" "subst" "7.39765E-5" "01804" "POLK_000018" "g.74807253C>T" "" "" "" "COL4A3BP(NM_001130105.1):c.164G>A (p.(Gly55Asp))" "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 COL4A3BP
## Count = 47
"{{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}}"
"0000002381" "00025475" "50" "2269" "-9" "2269" "-8" "c.*10-9_*10-8del" "r.(=)" "p.(=)" ""
"0000004164" "00025475" "50" "2269" "-413" "2269" "-413" "c.*10-413C>T" "r.(=)" "p.(=)" ""
"0000079294" "00025475" "90" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Ser260Leu)" ""
"0000079335" "00025475" "90" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Ser260Leu)" ""
"0000079514" "00025475" "90" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Ser260Leu)" ""
"0000270408" "00025475" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Gly156=)" ""
"0000274188" "00025475" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Asp368Asn)" ""
"0000274189" "00025475" "30" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Pro102Leu)" ""
"0000346035" "00025475" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Gly371Glu)" ""
"0000350089" "00025475" "50" "1256" "0" "1256" "0" "c.1256A>G" "r.(?)" "p.(Tyr419Cys)" ""
"0000407969" "00025475" "70" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Ser266Cys)" ""
"0000526014" "00025475" "30" "2269" "-9" "2269" "-8" "c.*10-9_*10-8del" "r.(=)" "p.(=)" ""
"0000526015" "00025475" "10" "2269" "-8" "2269" "-8" "c.*10-8del" "r.(=)" "p.(=)" ""
"0000526016" "00025475" "30" "2269" "-8" "2269" "-8" "c.*10-8del" "r.(=)" "p.(=)" ""
"0000526017" "00025475" "30" "2001" "0" "2001" "0" "c.2001T>C" "r.(?)" "p.(Pro667=)" ""
"0000526019" "00025475" "50" "1481" "0" "1481" "0" "c.1481G>C" "r.(?)" "p.(Arg494Thr)" ""
"0000526020" "00025475" "70" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Gly371Arg)" ""
"0000526022" "00025475" "50" "663" "0" "663" "0" "c.663T>G" "r.(?)" "p.(Ser221Arg)" ""
"0000526023" "00025475" "30" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Ala127Val)" ""
"0000526024" "00025475" "50" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Gly116Ter)" ""
"0000526026" "00025475" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" ""
"0000526027" "00025475" "30" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Pro10=)" ""
"0000599280" "00025475" "70" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Ser266Cys)" ""
"0000609792" "00025475" "30" "2269" "-10" "2269" "-8" "c.*10-10_*10-8del" "r.(=)" "p.(=)" ""
"0000651761" "00025475" "30" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Asp101Asn)" ""
"0000655410" "00025475" "30" "2132" "-4" "2132" "-4" "c.2132-4G>A" "r.spl?" "p.?" ""
"0000667314" "00025475" "70" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Gly371Arg)" ""
"0000677545" "00025475" "30" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Phe19Val)" ""
"0000689546" "00025475" "30" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Arg286His)" ""
"0000709992" "00025475" "70" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Ser266Phe)" ""
"0000720492" "00025475" "50" "1221" "4" "1221" "4" "c.1221+4A>G" "r.spl?" "p.?" ""
"0000802177" "00025475" "30" "1401" "9" "1401" "9" "c.1401+9A>G" "r.(=)" "p.(=)" ""
"0000802178" "00025475" "30" "733" "-3" "733" "-3" "c.733-3dup" "r.spl?" "p.?" ""
"0000802179" "00025475" "50" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Ala68Gly)" ""
"0000850961" "00025475" "50" "1236" "0" "1240" "0" "c.1236_1240del" "r.(?)" "p.(Arg413Asnfs*6)" ""
"0000886903" "00025475" "50" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674His)" ""
"0000995165" "00025475" "50" "1751" "0" "1751" "0" "c.1751A>G" "r.(?)" "p.(His584Arg)" ""
"0000995166" "00025475" "30" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Ala48Thr)" ""
"0000995167" "00025475" "30" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Phe19Val)" ""
"0001014144" "00025475" "50" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Cys193Tyr)" ""
"0001035308" "00025475" "30" "7534" "0" "7535" "0" "c.*5275_*5276insCA" "r.(=)" "p.(=)" ""
"0001035309" "00025475" "30" "1669" "-1357" "1669" "-1357" "c.1669-1357A>G" "r.(=)" "p.(=)" ""
"0001035310" "00025475" "30" "1401" "9" "1401" "9" "c.1401+9A>G" "r.(=)" "p.(=)" ""
"0001035311" "00025475" "30" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Ser347Asn)" ""
"0001035312" "00025475" "30" "733" "-217" "733" "-217" "c.733-217C>T" "r.(=)" "p.(=)" ""
"0001035313" "00025475" "50" "712" "0" "712" "0" "c.712G>T" "r.(?)" "p.(Asp238Tyr)" ""
"0001035314" "00025475" "30" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002381"
"0000000209" "0000004164"
"0000050314" "0000079294"
"0000050355" "0000079335"
"0000050534" "0000079514"
"0000184031" "0000407969"
"0000267754" "0000599280"
"0000295072" "0000651761"
"0000303912" "0000667314"
"0000326573" "0000709992"