### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL18A1) # 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}}" "COL18A1" "collagen, type XVIII, alpha 1" "21" "q22.3" "unknown" "NG_011903.1" "UD_132118590951" "" "https://www.LOVD.nl/COL18A1" "" "1" "2195" "80781" "120328" "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/COL18A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-10 18:51:07" "00006" "2025-11-18 12:45:55" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00005493" "COL18A1" "transcript variant 1" "002" "NM_030582.3" "" "NP_085059.2" "" "" "" "-21" "5882" "4560" "46875424" "46933634" "" "0000-00-00 00:00:00" "" "" "00026029" "COL18A1" "transcript variant 4" "000" "NM_001379500.1" "" "NP_001366429.1" "" "" "MANE select" "-66" "5342" "4020" "1" "1" "00006" "2025-11-09 16:16:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "02054" "KNO1" "Knobloch syndrome, type 1 (KNO-1)" "AR" "267750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06533" "GLCC" "Glaucoma, primary closed-angle" "" "618880" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COL18A1" "02054" "COL18A1" "06533" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00074436" "" "" "" "1" "" "01686" "" "" "F" "no" "" "" "0" "Yes" "" "white" "" "00103998" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-107A" "00293025" "" "" "" "146" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293026" "" "" "" "98" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293027" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293028" "" "" "" "104" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293029" "" "" "" "229" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00304878" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304879" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304880" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309106" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00327975" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G000988" "00328062" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004693" "00328236" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G008162" "00328304" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000181" "00380143" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Saudi Arabia" "" "0" "" "" "" "14DG2133" "00383421" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00383422" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00387645" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "33" "00390236" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G000988" "00390237" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004693" "00390238" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008162" "00390239" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000181" "00447049" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CD-1" "00447206" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-296" "00447567" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-297" "00447570" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-312" "00447571" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-319" "00451560" "" "" "" "11" "" "04543" "{PMID:Basharat 2024:38815792}" "4-generation family, 11 affected (4F, 7M)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamIPatIV3" "00451561" "" "" "00451560" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamIPatIV4" "00451562" "" "" "00451560" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamIPatIV5" "00451563" "" "" "00451560" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "FamIPatIV6" "00468446" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "Pat5" "00469580" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "2-generation family, unaffected heterozygous carrier parents; analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "TabS5-var6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00074436" "02054" "00103998" "03381" "00293025" "00198" "00293026" "00198" "00293027" "00198" "00293028" "00198" "00293029" "00198" "00299641" "04214" "00304878" "00198" "00304879" "00198" "00304880" "00198" "00309106" "04214" "00327975" "04214" "00328062" "04214" "00328236" "04214" "00328304" "04214" "00380143" "04214" "00383421" "04214" "00383422" "04214" "00387645" "04214" "00390236" "04214" "00390237" "04214" "00390238" "04214" "00390239" "04214" "00447049" "00198" "00447206" "00198" "00447567" "00198" "00447570" "00198" "00447571" "00198" "00451560" "00198" "00451561" "00198" "00451562" "00198" "00451563" "00198" "00468446" "00296" "00469580" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 02054, 03381, 04214, 06533 ## Count = 27 "{{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}}" "0000079016" "02054" "00074436" "01686" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081932" "03381" "00103998" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000234426" "04214" "00309106" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Knobloch syndrome" "" "0000246202" "04214" "00327975" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000246289" "04214" "00328062" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246463" "04214" "00328236" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246531" "04214" "00328304" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000273998" "04214" "00380143" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Knobloch syndrome, type 1 (KNO-1)" "" "0000277206" "04214" "00383421" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Knobloch syndrome" "" "0000277207" "04214" "00383422" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Knobloch syndrome" "" "0000281208" "04214" "00387645" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Knobloch syndrome" "Childhood retinal disease" "" "0000283774" "04214" "00390236" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283775" "04214" "00390237" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283776" "04214" "00390238" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283777" "04214" "00390239" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000336248" "00198" "00447049" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336405" "00198" "00447206" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336766" "00198" "00447567" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336769" "00198" "00447570" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336770" "00198" "00447571" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000340235" "00198" "00451560" "04543" "Familial, autosomal recessive" "18y" "no night vision; perception of light; nystagmus; no corneal haze; no photophobia; mild intellectual disability" "<1y" "" "" "" "" "" "" "" "KNO1" "retinitis pigmentosa" "" "0000340236" "00198" "00451561" "04543" "Familial, autosomal recessive" "7y" "no night vision; day vision 20/100; normal color vision; nystagmus; no corneal haze; no photophobia; mild intellectual disability" "<4y" "" "" "" "" "" "" "" "KNO1" "retinitis pigmentosa" "" "0000340237" "00198" "00451562" "04543" "Familial, autosomal recessive" "9y" "no night vision; day vision 20/120; normal color vision; nystagmus; no corneal haze; no photophobia; mild intellectual disability" "<4y" "" "" "" "" "" "" "" "KNO1" "retinitis pigmentosa" "" "0000340238" "00198" "00451563" "04543" "Familial, autosomal recessive" "10y" "no night vision; day vision 20/120; normal color vision; nystagmus; no corneal haze; no photophobia; mild intellectual disability" "<4y" "" "" "" "" "" "" "" "KNO1" "retinitis pigmentosa" "" "0000353598" "00296" "00468446" "00006" "Familial, autosomal recessive" "" "cortical cataract, pulverulent cataract; symmetrical opacities; macular hypoplasia, high myopia, cardiac defects, joint hypermobility" "5y" "" "" "" "" "" "" "" "KNO1" "bilateral cataract" "" "0000354732" "00198" "00469580" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000074597" "00074436" "1" "01686" "01686" "2016-07-01 04:30:24" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000104469" "00103998" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000294193" "00293025" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294194" "00293026" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294195" "00293027" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294196" "00293028" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294197" "00293029" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000306007" "00304878" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306008" "00304879" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306009" "00304880" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310251" "00309106" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329190" "00327975" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329277" "00328062" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329451" "00328236" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329519" "00328304" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000381345" "00380143" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel (negative), WES" "0000384646" "00383421" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000384647" "00383422" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000388871" "00387645" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000391477" "00390236" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391478" "00390237" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391479" "00390238" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391480" "00390239" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000448626" "00447049" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448783" "00447206" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449144" "00447567" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449147" "00447570" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449148" "00447571" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000453161" "00451560" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS" "0000453162" "00451561" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS" "0000453163" "00451562" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS" "0000453164" "00451563" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS" "0000470113" "00468446" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471248" "00469580" "1" "00006" "00006" "2025-11-18 12:45:53" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000074597" "COL18A1" "0000300751" "ARHGEF18" "0000310251" "COL18A1" "0000329190" "COL18A1" "0000329277" "COL18A1" "0000329451" "COL18A1" "0000329519" "COL18A1" "0000384646" "COL18A1" "0000384647" "COL18A1" "0000388871" "COL18A1" "0000391477" "COL18A1" "0000391478" "COL18A1" "0000391479" "COL18A1" "0000391480" "COL18A1" ## 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 = 462 "{{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}}" "0000163582" "10" "70" "21" "46925814" "46925814" "subst" "4.0828E-6" "01686" "COL18A1_000001" "g.46925814G>A" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.45505900G>A" "" "likely pathogenic" "" "0000163583" "21" "90" "21" "46930005" "46930006" "del" "0.000302834" "01686" "COL18A1_000002" "g.46930005_46930006del" "" "" "" "4063_4064delCT" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "rs398122391" "0" "" "" "g.45510091_45510092del" "" "pathogenic" "" "0000169275" "0" "70" "21" "46924425" "46924433" "del" "0" "00587" "COL18A1_000003" "g.46924425_46924433del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "ENST00000359759.8(COL18A1):c.4068_4076del p.(Pro1362_Pro1364del)" "variant could not be associated with disease phenotype\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45504511_45504519del" "" "likely pathogenic" "" "0000249913" "0" "10" "21" "46927489" "46927489" "subst" "0.124709" "02329" "COL18A1_000113" "g.46927489A>G" "" "" "" "COL18A1(NM_130444.3):c.4476A>G (p.P1492=), COL18A1(NM_130445.2):c.3222A>G (p.T1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507575A>G" "" "benign" "" "0000253137" "0" "10" "21" "46927489" "46927489" "subst" "0.124709" "01943" "COL18A1_000113" "g.46927489A>G" "" "" "" "COL18A1(NM_130444.3):c.4476A>G (p.P1492=), COL18A1(NM_130445.2):c.3222A>G (p.T1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507575A>G" "" "benign" "" "0000253503" "0" "10" "21" "46888469" "46888469" "subst" "0.00774973" "01943" "COL18A1_000015" "g.46888469A>G" "" "" "" "COL18A1(NM_130445.2):c.420A>G (p.T140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468555A>G" "" "benign" "" "0000253944" "0" "10" "21" "46913517" "46913517" "subst" "0.443818" "01943" "COL18A1_000149" "g.46913517A>G" "" "" "" "COL18A1(NM_130445.2):c.2352+28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45493603A>G" "" "benign" "" "0000254269" "0" "30" "21" "46930010" "46930010" "subst" "0.00955333" "01943" "COL18A1_000125" "g.46930010A>G" "" "" "" "COL18A1(NM_130445.2):c.3519A>G (p.S1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510096A>G" "" "likely benign" "" "0000254302" "0" "30" "21" "46902717" "46902717" "subst" "0.000584786" "01943" "COL18A1_000055" "g.46902717A>G" "" "" "" "COL18A1(NM_030582.4):c.2223A>G (p.A741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45482803A>G" "" "likely benign" "" "0000254845" "0" "30" "21" "46925149" "46925149" "subst" "0.000660543" "01943" "COL18A1_000106" "g.46925149A>C" "" "" "" "COL18A1(NM_130444.3):c.4215A>C (p.P1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505235A>C" "" "likely benign" "" "0000255098" "0" "30" "21" "46875615" "46875615" "subst" "0.000913928" "01943" "COL18A1_000005" "g.46875615A>G" "" "" "" "COL18A1(NM_030582.4):c.171A>G (p.T57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45455701A>G" "" "likely benign" "" "0000255334" "0" "30" "21" "46893914" "46893914" "subst" "0.000969451" "01943" "COL18A1_000027" "g.46893914A>C" "" "" "" "COL18A1(NM_130445.2):c.738+19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45474000A>C" "" "likely benign" "" "0000255335" "0" "30" "21" "46916502" "46916502" "subst" "0.000586786" "01943" "COL18A1_000086" "g.46916502A>G" "" "" "" "COL18A1(NM_130445.2):c.2577+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45496588A>G" "" "likely benign" "" "0000264767" "0" "10" "21" "46907442" "46907442" "subst" "0" "02330" "COL18A1_000060" "g.46907442C>G" "" "" "" "COL18A1(NM_130444.3):c.3141+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45487528C>G" "" "benign" "" "0000264768" "0" "10" "21" "46931109" "46931109" "subst" "0.065053" "02330" "COL18A1_000139" "g.46931109G>A" "" "" "" "COL18A1(NM_001379500.1):c.3778G>A (p.(Asp1260Asn)), COL18A1(NM_030582.4):c.4309G>A (p.D1437N), COL18A1(NM_130444.3):c.5023G>A (p.D1675N), COL18A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45511195G>A" "" "benign" "" "0000266921" "0" "10" "21" "46932328" "46932328" "subst" "0.418536" "02325" "COL18A1_000147" "g.46932328G>A" "" "" "" "COL18A1(NM_030582.4):c.*16G>A, COL18A1(NM_130445.2):c.*16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512414G>A" "" "benign" "" "0000266922" "0" "10" "21" "46875564" "46875564" "subst" "0.970306" "02325" "COL18A1_000004" "g.46875564T>C" "" "" "" "COL18A1(NM_030582.4):c.120T>C (p.H40=), COL18A1(NM_130444.3):c.120T>C (p.H40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45455650T>C" "" "benign" "" "0000266923" "0" "10" "21" "46908355" "46908355" "subst" "0.303109" "02325" "COL18A1_000065" "g.46908355T>C" "" "" "" "COL18A1(NM_030582.4):c.2460T>C (p.L820=), COL18A1(NM_130444.3):c.3165T>C (p.L1055=), COL18A1(NM_130445.2):c.1920T>C (p.L640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45488441T>C" "" "benign" "" "0000266924" "0" "10" "21" "46924440" "46924448" "del" "0" "02325" "COL18A1_000098" "g.46924440_46924448del" "" "" "" "COL18A1(NM_030582.3):c.3373_3381del (p.(Pro1127_Pro1129del)), COL18A1(NM_030582.4):c.3369_3377delCCCAGGCCC (p.P1124_P1126del), COL18A1(NM_130444.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504526_45504534del" "" "benign" "" "0000266925" "0" "10" "21" "46929467" "46929467" "subst" "0.459876" "02325" "COL18A1_000119" "g.46929467G>A" "" "" "" "COL18A1(NM_030582.4):c.3978G>A (p.A1326=), COL18A1(NM_130444.3):c.4692G>A (p.T1564=), COL18A1(NM_130445.2):c.3438G>A (p.A1146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509553G>A" "" "benign" "" "0000266926" "0" "10" "21" "46929529" "46929529" "del" "0" "02325" "COL18A1_000121" "g.46929529del" "" "" "" "COL18A1(NM_030582.4):c.4026+14delC, COL18A1(NM_130444.3):c.4740+14delC, COL18A1(NM_130445.2):c.3486+14delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509615del" "" "benign" "" "0000268230" "0" "10" "21" "46876580" "46876580" "subst" "0" "02329" "COL18A1_000012" "g.46876580C>T" "" "" "" "COL18A1(NM_130444.3):c.1136C>T (p.T379M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45456666C>T" "" "benign" "" "0000268231" "0" "10" "21" "46875564" "46875564" "subst" "0.970306" "02329" "COL18A1_000004" "g.46875564T>C" "" "" "" "COL18A1(NM_030582.4):c.120T>C (p.H40=), COL18A1(NM_130444.3):c.120T>C (p.H40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45455650T>C" "" "benign" "" "0000268232" "0" "10" "21" "46908355" "46908355" "subst" "0.303109" "02329" "COL18A1_000065" "g.46908355T>C" "" "" "" "COL18A1(NM_030582.4):c.2460T>C (p.L820=), COL18A1(NM_130444.3):c.3165T>C (p.L1055=), COL18A1(NM_130445.2):c.1920T>C (p.L640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45488441T>C" "" "benign" "" "0000268233" "0" "10" "21" "46898243" "46898243" "subst" "0.0835304" "02329" "COL18A1_000043" "g.46898243C>G" "" "" "" "COL18A1(NM_130444.3):c.2469C>G (p.G823=), COL18A1(NM_130445.2):c.1224C>G (p.G408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45478329C>G" "" "benign" "" "0000268234" "0" "10" "21" "46924440" "46924448" "del" "0" "02329" "COL18A1_000097" "g.46924440_46924448del" "" "" "" "COL18A1(NM_030582.3):c.3373_3381del (p.(Pro1127_Pro1129del)), COL18A1(NM_030582.4):c.3369_3377delCCCAGGCCC (p.P1124_P1126del), COL18A1(NM_130444.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504526_45504534del" "" "benign" "" "0000268235" "0" "10" "21" "46929467" "46929467" "subst" "0.459876" "02329" "COL18A1_000119" "g.46929467G>A" "" "" "" "COL18A1(NM_030582.4):c.3978G>A (p.A1326=), COL18A1(NM_130444.3):c.4692G>A (p.T1564=), COL18A1(NM_130445.2):c.3438G>A (p.A1146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509553G>A" "" "benign" "" "0000268236" "0" "10" "21" "46924383" "46924383" "subst" "0.0291726" "02329" "COL18A1_000093" "g.46924383C>T" "" "" "" "COL18A1(NM_130444.3):c.4026C>T (p.P1342=), COL18A1(NM_130445.2):c.2781C>T (p.P927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504469C>T" "" "benign" "" "0000268237" "0" "10" "21" "46929529" "46929529" "del" "0" "02329" "COL18A1_000120" "g.46929529del" "" "" "" "COL18A1(NM_030582.4):c.4026+14delC, COL18A1(NM_130444.3):c.4740+14delC, COL18A1(NM_130445.2):c.3486+14delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509615del" "" "benign" "" "0000268238" "0" "10" "21" "46930163" "46930163" "subst" "0.0403994" "02329" "COL18A1_000135" "g.46930163C>T" "" "" "" "COL18A1(NM_130444.3):c.4926C>T (p.L1642=), COL18A1(NM_130445.2):c.3672C>T (p.I1224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510249C>T" "" "benign" "" "0000268240" "0" "10" "21" "46876173" "46876173" "subst" "0" "02329" "COL18A1_000009" "g.46876173C>T" "" "" "" "COL18A1(NM_130444.3):c.729C>T (p.P243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45456259C>T" "" "benign" "" "0000268241" "0" "10" "21" "46876306" "46876306" "subst" "0" "02329" "COL18A1_000010" "g.46876306G>A" "" "" "" "COL18A1(NM_130444.3):c.862G>A (p.A288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45456392G>A" "" "benign" "" "0000273830" "0" "10" "21" "46825140" "46825140" "del" "0" "01943" "COL18A1_000150" "g.46825140del" "" "" "" "COL18A1(NM_130445.2):c.-6delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45405225del" "" "benign" "" "0000273831" "0" "30" "21" "46932327" "46932327" "subst" "0.000803421" "01943" "COL18A1_000146" "g.46932327C>T" "" "" "" "COL18A1(NM_130445.2):c.*15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512413C>T" "" "likely benign" "" "0000273832" "0" "10" "21" "46932328" "46932328" "subst" "0.418536" "01943" "COL18A1_000147" "g.46932328G>A" "" "" "" "COL18A1(NM_030582.4):c.*16G>A, COL18A1(NM_130445.2):c.*16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512414G>A" "" "benign" "" "0000273833" "0" "30" "21" "46932318" "46932318" "subst" "0.00534993" "01943" "COL18A1_000145" "g.46932318G>A" "" "" "" "COL18A1(NM_130445.2):c.*6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512404G>A" "" "likely benign" "" "0000273834" "0" "30" "21" "46876530" "46876530" "subst" "0" "01943" "COL18A1_000011" "g.46876530C>T" "" "" "" "COL18A1(NM_130444.3):c.1086C>T (p.S362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45456616C>T" "" "likely benign" "" "0000273835" "0" "30" "21" "46897801" "46897801" "subst" "0.0140873" "01943" "COL18A1_000038" "g.46897801G>A" "" "" "" "COL18A1(NM_130445.2):c.1143G>A (p.A381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477887G>A" "" "likely benign" "" "0000273836" "0" "30" "21" "46897813" "46897813" "subst" "0.000219992" "01943" "COL18A1_000039" "g.46897813C>T" "" "" "" "COL18A1(NM_030582.4):c.1695C>T (p.V565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477899C>T" "" "likely benign" "" "0000273837" "0" "30" "21" "46897843" "46897843" "subst" "0.00028338" "01943" "COL18A1_000040" "g.46897843G>A" "" "" "" "COL18A1(NM_030582.4):c.1725G>A (p.P575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477929G>A" "" "likely benign" "" "0000273838" "0" "30" "21" "46888706" "46888706" "subst" "8.31158E-5" "01943" "COL18A1_000021" "g.46888706C>G" "" "" "" "COL18A1(NM_030582.4):c.1191+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468792C>G" "" "likely benign" "" "0000273839" "0" "10" "21" "46897893" "46897893" "subst" "0.00629202" "01943" "COL18A1_000041" "g.46897893T>C" "" "" "" "COL18A1(NM_130445.2):c.1221+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477979T>C" "" "benign" "" "0000273840" "0" "30" "21" "46897899" "46897899" "dup" "0" "01943" "COL18A1_000042" "g.46897899dup" "" "" "" "COL18A1(NM_130445.2):c.1221+20dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477985dup" "" "likely benign" "" "0000273841" "0" "50" "21" "46893848" "46893848" "subst" "0.00101749" "01943" "COL18A1_000025" "g.46893848G>A" "" "" "" "COL18A1(NM_030582.3):c.1231G>A (p.(Val411Met)), COL18A1(NM_030582.4):c.1231G>A (p.V411M), COL18A1(NM_130444.3):c.1936G>A (p.V646M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45473934G>A" "" "VUS" "" "0000273842" "0" "30" "21" "46893850" "46893850" "subst" "0.00097994" "01943" "COL18A1_000026" "g.46893850G>A" "" "" "" "COL18A1(NM_001379500.1):c.693G>A (p.(Val231Val)), COL18A1(NM_130444.3):c.1938G>A (p.V646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45473936G>A" "" "likely benign" "" "0000273843" "0" "30" "21" "46899824" "46899824" "subst" "4.07146E-5" "01943" "COL18A1_000044" "g.46899824C>T" "" "" "" "COL18A1(NM_130445.2):c.1257C>T (p.T419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45479910C>T" "" "likely benign" "" "0000273844" "0" "30" "21" "46888175" "46888175" "subst" "0.00249546" "01943" "COL18A1_000013" "g.46888175G>A" "" "" "" "COL18A1(NM_130445.2):c.126G>A (p.V42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468261G>A" "" "likely benign" "" "0000273845" "0" "10" "21" "46899842" "46899842" "subst" "0.0888799" "01943" "COL18A1_000045" "g.46899842C>T" "" "" "" "COL18A1(NM_130445.2):c.1275C>T (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45479928C>T" "" "benign" "" "0000273846" "0" "10" "21" "46899857" "46899857" "subst" "0.0822398" "01943" "COL18A1_000046" "g.46899857C>T" "" "" "" "COL18A1(NM_130445.2):c.1290C>T (p.D430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45479943C>T" "" "benign" "" "0000273847" "0" "10" "21" "46899872" "46899872" "subst" "0.0782217" "01943" "COL18A1_000047" "g.46899872C>A" "" "" "" "COL18A1(NM_130445.2):c.1305C>A (p.G435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45479958C>A" "" "benign" "" "0000273848" "0" "30" "21" "46899883" "46899883" "subst" "0.000236299" "01943" "COL18A1_000048" "g.46899883G>C" "" "" "" "COL18A1(NM_001379500.1):c.1311+5G>C, COL18A1(NM_130445.2):c.1311+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45479969G>C" "" "likely benign" "" "0000273849" "0" "10" "21" "46900077" "46900077" "subst" "0.00330571" "01943" "COL18A1_000051" "g.46900077C>G" "" "" "" "COL18A1(NM_130445.2):c.1398+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45480163C>G" "" "benign" "" "0000273850" "0" "30" "21" "46896339" "46896339" "subst" "0.000183738" "01943" "COL18A1_000034" "g.46896339G>A" "" "" "" "COL18A1(NM_030582.4):c.1413G>A (p.T471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476425G>A" "" "likely benign" "" "0000273851" "0" "10" "21" "46900410" "46900410" "subst" "0.0820745" "01943" "COL18A1_000052" "g.46900410C>T" "" "" "" "COL18A1(NM_130445.2):c.1428C>T (p.F476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45480496C>T" "" "benign" "" "0000273852" "0" "30" "21" "46897359" "46897359" "subst" "3.70721E-5" "01943" "COL18A1_000037" "g.46897359G>A" "" "" "" "COL18A1(NM_030582.4):c.1503G>A (p.T501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477445G>A" "" "likely benign" "" "0000273853" "0" "30" "21" "46900670" "46900670" "subst" "0.00319581" "01943" "COL18A1_000053" "g.46900670C>T" "" "" "" "COL18A1(NM_130445.2):c.1509C>T (p.G503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45480756C>T" "" "likely benign" "" "0000273854" "0" "30" "21" "46906780" "46906780" "subst" "0.000873165" "01943" "COL18A1_000056" "g.46906780C>T" "" "" "" "COL18A1(NM_001379500.1):c.1707C>T (p.(Ser569Ser)), COL18A1(NM_030582.4):c.2247C>T (p.S749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45486866C>T" "" "likely benign" "" "0000273855" "0" "10" "21" "46907338" "46907338" "subst" "0.0729753" "01943" "COL18A1_000059" "g.46907338C>A" "" "" "" "COL18A1(NM_130445.2):c.1834-23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45487424C>A" "" "benign" "" "0000273856" "0" "30" "21" "46907442" "46907442" "subst" "0.00179868" "01943" "COL18A1_000061" "g.46907442C>T" "" "" "" "COL18A1(NM_130445.2):c.1896+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45487528C>T" "" "likely benign" "" "0000273857" "0" "30" "21" "46908349" "46908349" "subst" "1.62545E-5" "01943" "COL18A1_000064" "g.46908349G>A" "" "" "" "COL18A1(NM_130445.2):c.1914G>A (p.P638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45488435G>A" "" "likely benign" "" "0000273858" "0" "50" "21" "46893833" "46893833" "subst" "0" "01943" "COL18A1_000023" "g.46893833C>T" "" "" "" "COL18A1(NM_130444.3):c.1921C>T (p.R641C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45473919C>T" "" "VUS" "" "0000273859" "0" "10" "21" "46910210" "46910210" "subst" "0.116169" "01943" "COL18A1_000066" "g.46910210G>A" "" "" "" "COL18A1(NM_130445.2):c.1981G>A (p.V661I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45490296G>A" "" "benign" "" "0000273860" "0" "30" "21" "46910740" "46910740" "subst" "0.0041814" "01943" "COL18A1_000067" "g.46910740G>A" "" "" "" "COL18A1(NM_130445.2):c.2032-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45490826G>A" "" "likely benign" "" "0000273861" "0" "50" "21" "46910741" "46910741" "subst" "0.000712557" "01943" "COL18A1_000068" "g.46910741T>A" "" "" "" "COL18A1(NM_130445.2):c.2032-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45490827T>A" "" "VUS" "" "0000273862" "0" "30" "21" "46900685" "46900685" "subst" "0" "01943" "COL18A1_000054" "g.46900685T>C" "" "" "" "COL18A1(NM_030582.4):c.2064T>C (p.F688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45480771T>C" "" "likely benign" "" "0000273863" "0" "10" "21" "46911115" "46911115" "subst" "0.0118673" "01943" "COL18A1_000070" "g.46911115C>T" "" "" "" "COL18A1(NM_130445.2):c.2068-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45491201C>T" "" "benign" "" "0000273864" "0" "30" "21" "46911132" "46911132" "subst" "0.000363943" "01943" "COL18A1_000071" "g.46911132C>T" "" "" "" "COL18A1(NM_001379500.1):c.2068-7C>T, COL18A1(NM_130445.2):c.2068-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45491218C>T" "" "likely benign" "" "0000273865" "0" "30" "21" "46911168" "46911168" "subst" "4.09755E-6" "01943" "COL18A1_000072" "g.46911168G>A" "" "" "" "COL18A1(NM_130445.2):c.2097G>A (p.Q699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45491254G>A" "" "likely benign" "" "0000273866" "0" "10" "21" "46911188" "46911188" "subst" "0.0833491" "01943" "COL18A1_000074" "g.46911188C>G" "" "" "" "COL18A1(NM_130445.2):c.2117C>G (p.P706R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45491274C>G" "" "benign" "" "0000273868" "0" "10" "21" "46912609" "46912609" "subst" "0.00231007" "01943" "COL18A1_000076" "g.46912609G>A" "" "" "" "COL18A1(NM_001379500.1):c.2196G>A (p.(Pro732=)), COL18A1(NM_130445.2):c.2196G>A (p.P732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45492695G>A" "" "benign" "" "0000273869" "0" "30" "21" "46912627" "46912627" "subst" "0.000137194" "01943" "COL18A1_000077" "g.46912627C>T" "" "" "" "COL18A1(NM_030582.3):c.2754C>T (p.(=)), COL18A1(NM_130445.2):c.2214C>T (p.P738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45492713C>T" "" "likely benign" "" "0000273870" "0" "10" "21" "46913153" "46913153" "subst" "0.0239741" "01943" "COL18A1_000078" "g.46913153G>T" "" "" "" "COL18A1(NM_130445.2):c.2277+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45493239G>T" "" "benign" "" "0000273872" "0" "10" "21" "46913477" "46913477" "subst" "0.0216253" "01943" "COL18A1_000079" "g.46913477G>C" "" "" "" "COL18A1(NM_030582.3):c.2880G>C (p.(Gln960His)), COL18A1(NM_130445.2):c.2340G>C (p.Q780H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45493563G>C" "" "benign" "" "0000273873" "0" "30" "21" "46906897" "46906897" "subst" "0.000103081" "01943" "COL18A1_000058" "g.46906897C>T" "" "" "" "COL18A1(NM_030582.4):c.2364C>T (p.P788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45486983C>T" "" "likely benign" "" "0000273874" "0" "90" "21" "46914474" "46914474" "subst" "0" "01943" "COL18A1_000080" "g.46914474C>T" "" "" "" "COL18A1(NM_130445.2):c.2368C>T (p.R790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45494560C>T" "" "pathogenic" "" "0000273875" "0" "10" "21" "46914756" "46914756" "subst" "0.000158715" "01943" "COL18A1_000081" "g.46914756T>C" "" "" "" "COL18A1(NM_130445.2):c.2380-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45494842T>C" "" "benign" "" "0000273876" "0" "30" "21" "46914784" "46914784" "subst" "0.000176994" "01943" "COL18A1_000082" "g.46914784C>T" "" "" "" "COL18A1(NM_130444.3):c.3633C>T (p.Y1211=), COL18A1(NM_130445.2):c.2388C>T (p.Y796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45494870C>T" "" "likely benign" "" "0000273877" "0" "30" "21" "46915256" "46915256" "subst" "0" "01943" "COL18A1_000083" "g.46915256C>G" "" "" "" "COL18A1(NM_130445.2):c.2434-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45495342C>G" "" "likely benign" "" "0000273878" "0" "90" "21" "46908329" "46908349" "del" "0" "01943" "COL18A1_000063" "g.46908329_46908349del" "" "" "" "COL18A1(NM_130445.2):c.1897-3_1914delCAGGGACCTCCCGGCCTGCCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45488415_45488435del" "" "pathogenic" "" "0000273879" "0" "90" "21" "46908325" "46908327" "del" "0" "01943" "COL18A1_000062" "g.46908325_46908327del" "" "" "" "COL18A1(NM_030582.4):c.2437-7_2437-5delCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45488411_45488413del" "" "pathogenic" "" "0000273880" "0" "10" "21" "46908355" "46908355" "subst" "0.303109" "01943" "COL18A1_000065" "g.46908355T>C" "" "" "" "COL18A1(NM_030582.4):c.2460T>C (p.L820=), COL18A1(NM_130444.3):c.3165T>C (p.L1055=), COL18A1(NM_130445.2):c.1920T>C (p.L640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45488441T>C" "" "benign" "" "0000273881" "0" "10" "21" "46898243" "46898243" "subst" "0.0835304" "01943" "COL18A1_000043" "g.46898243C>G" "" "" "" "COL18A1(NM_130444.3):c.2469C>G (p.G823=), COL18A1(NM_130445.2):c.1224C>G (p.G408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45478329C>G" "" "benign" "" "0000273882" "0" "30" "21" "46915327" "46915327" "subst" "0" "01943" "COL18A1_000084" "g.46915327G>A" "" "" "" "COL18A1(NM_130445.2):c.2489G>A (p.S830N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45495413G>A" "" "likely benign" "" "0000273883" "0" "50" "21" "46910774" "46910774" "subst" "7.40183E-5" "01943" "COL18A1_000069" "g.46910774C>T" "" "" "" "COL18A1(NM_030582.4):c.2596C>T (p.R866W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45490860C>T" "" "VUS" "" "0000273884" "0" "10" "21" "46917035" "46917035" "subst" "0.142689" "01943" "COL18A1_000087" "g.46917035C>T" "" "" "" "COL18A1(NM_130445.2):c.2620+29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45497121C>T" "" "benign" "" "0000273885" "0" "10" "21" "46923906" "46923906" "subst" "0.00525326" "01943" "COL18A1_000090" "g.46923906G>A" "" "" "" "COL18A1(NM_130445.2):c.2684-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45503992G>A" "" "benign" "" "0000273886" "0" "50" "21" "46923934" "46923934" "subst" "0.000223697" "01943" "COL18A1_000091" "g.46923934C>T" "" "" "" "COL18A1(NM_130445.2):c.2693C>T (p.P898L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504020C>T" "" "VUS" "" "0000273887" "0" "50" "21" "46912468" "46912468" "subst" "1.62528E-5" "01943" "COL18A1_000075" "g.46912468C>G" "" "" "" "COL18A1(NM_030582.4):c.2717C>G (p.P906R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45492554C>G" "" "VUS" "" "0000273888" "0" "10" "21" "46924322" "46924322" "subst" "0.0184026" "01943" "COL18A1_000092" "g.46924322G>A" "" "" "" "COL18A1(NM_030582.3):c.3268-8G>A (p.(=)), COL18A1(NM_130445.2):c.2728-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504408G>A" "" "benign" "" "0000273889" "0" "50" "21" "46924384" "46924384" "subst" "0.00176464" "01943" "COL18A1_000094" "g.46924384G>A" "" "" "" "COL18A1(NM_130445.2):c.2782G>A (p.G928R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504470G>A" "" "VUS" "" "0000273890" "0" "30" "21" "46924389" "46924389" "subst" "0.0135838" "01943" "COL18A1_000096" "g.46924389C>T" "" "" "" "COL18A1(NM_130445.2):c.2787C>T (p.G929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504475C>T" "" "likely benign" "" "0000273891" "0" "30" "21" "46925280" "46925280" "subst" "0.00082776" "01943" "COL18A1_000107" "g.46925280G>A" "" "" "" "COL18A1(NM_130445.2):c.3013G>A (p.V1005I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505366G>A" "" "likely benign" "" "0000273892" "0" "30" "21" "46925294" "46925294" "subst" "0.00208305" "01943" "COL18A1_000108" "g.46925294G>A" "" "" "" "COL18A1(NM_130445.2):c.3027G>A (p.P1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505380G>A" "" "likely benign" "" "0000273893" "0" "10" "21" "46925354" "46925355" "del" "0" "01943" "COL18A1_000110" "g.46925354_46925355del" "" "" "" "COL18A1(NM_030582.3):c.3627+8_3627+9del (p.(=)), COL18A1(NM_130445.2):c.3078+9_3078+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505440_45505441del" "" "benign" "" "0000273894" "0" "50" "21" "46916483" "46916483" "subst" "8.19491E-6" "01943" "COL18A1_000085" "g.46916483G>A" "" "" "" "COL18A1(NM_030582.4):c.3117+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45496569G>A" "" "VUS" "" "0000273895" "0" "30" "21" "46927469" "46927469" "subst" "0.000540775" "01943" "COL18A1_000111" "g.46927469T>A" "" "" "" "COL18A1(NM_130445.2):c.3208-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507555T>A" "" "likely benign" "" "0000273896" "0" "10" "21" "46917565" "46917565" "subst" "0.000550538" "01943" "COL18A1_000089" "g.46917565C>T" "" "" "" "COL18A1(NM_030582.4):c.3213C>T (p.P1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45497651C>T" "" "benign" "" "0000273897" "0" "30" "21" "46929255" "46929255" "subst" "0.00370553" "01943" "COL18A1_000114" "g.46929255G>A" "" "" "" "COL18A1(NM_130444.3):c.4495-15G>A, COL18A1(NM_130445.2):c.3241-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509341G>A" "" "likely benign" "" "0000273898" "0" "50" "21" "46929331" "46929331" "subst" "0.0111315" "01943" "COL18A1_000115" "g.46929331C>G" "" "" "" "COL18A1(NM_130445.2):c.3302C>G (p.P1101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509417C>G" "" "VUS" "" "0000273899" "0" "10" "21" "46924384" "46924384" "subst" "0.00112682" "01943" "COL18A1_000095" "g.46924384G>C" "" "" "" "COL18A1(NM_030582.3):c.3322G>C (p.(Gly1108Arg)), COL18A1(NM_130444.3):c.4027G>C (p.G1343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504470G>C" "" "benign" "" "0000273900" "0" "30" "21" "46924440" "46924448" "del" "0" "01943" "COL18A1_000098" "g.46924440_46924448del" "" "" "" "COL18A1(NM_030582.3):c.3373_3381del (p.(Pro1127_Pro1129del)), COL18A1(NM_030582.4):c.3369_3377delCCCAGGCCC (p.P1124_P1126del), COL18A1(NM_130444.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504526_45504534del" "" "likely benign" "" "0000273901" "0" "50" "21" "46929433" "46929433" "subst" "0" "01943" "COL18A1_000117" "g.46929433C>T" "" "" "" "COL18A1(NM_130445.2):c.3404C>T (p.P1135L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509519C>T" "" "VUS" "" "0000273902" "0" "50" "21" "46925126" "46925126" "subst" "0.000396617" "01943" "COL18A1_000100" "g.46925126C>T" "" "" "" "COL18A1(NM_001379500.1):c.2947C>T (p.(Arg983Cys)), COL18A1(NM_130444.3):c.4192C>T (p.P1398S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505212C>T" "" "VUS" "" "0000273903" "0" "30" "21" "46929529" "46929529" "subst" "0.00422835" "01943" "COL18A1_000122" "g.46929529C>G" "" "" "" "COL18A1(NM_030582.4):c.4026+14C>G, COL18A1(NM_130444.3):c.4740+14C>G, COL18A1(NM_130445.2):c.3486+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509615C>G" "" "likely benign" "" "0000273904" "0" "30" "21" "46929973" "46929973" "subst" "0.00132684" "01943" "COL18A1_000123" "g.46929973C>T" "" "" "" "COL18A1(NM_130444.3):c.4741-5C>T, COL18A1(NM_130445.2):c.3487-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510059C>T" "" "likely benign" "" "0000273905" "0" "30" "21" "46925137" "46925137" "subst" "7.74304E-5" "01943" "COL18A1_000102" "g.46925137T>C" "" "" "" "COL18A1(NM_030582.4):c.3489T>C (p.P1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505223T>C" "" "likely benign" "" "0000273906" "0" "30" "21" "46925140" "46925140" "subst" "5.90217E-5" "01943" "COL18A1_000103" "g.46925140C>A" "" "" "" "COL18A1(NM_030582.4):c.3492C>A (p.P1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505226C>A" "" "likely benign" "" "0000273907" "0" "50" "21" "46925141" "46925141" "subst" "9.08207E-6" "01943" "COL18A1_000105" "g.46925141G>A" "" "" "" "COL18A1(NM_001379500.1):c.2962G>A (p.(Gly988Ser)), COL18A1(NM_130445.2):c.2953G>A (p.G985S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505227G>A" "" "VUS" "" "0000273908" "0" "90" "21" "46930005" "46930006" "del" "0.000302834" "01943" "COL18A1_000002" "g.46930005_46930006del" "" "" "" "COL18A1(NM_001379500.1):c.3523_3524del (p.(Leu1175fs)), COL18A1(NM_001379500.1):c.3523_3524delCT (p.L1175Vfs*72), COL18A1(NM_130445.2):c.3514_3515d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510091_45510092del" "" "pathogenic" "" "0000273909" "0" "50" "21" "46930021" "46930021" "subst" "0.00155788" "01943" "COL18A1_000126" "g.46930021G>A" "" "" "" "COL18A1(NM_130444.3):c.4784G>A (p.R1595H), COL18A1(NM_130445.2):c.3530G>A (p.R1177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510107G>A" "" "VUS" "" "0000273910" "0" "30" "21" "46930061" "46930061" "subst" "5.30791E-5" "01943" "COL18A1_000127" "g.46930061G>A" "" "" "" "COL18A1(NM_130445.2):c.3570G>A (p.A1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510147G>A" "" "likely benign" "" "0000273911" "0" "30" "21" "46930091" "46930091" "subst" "0.00306811" "01943" "COL18A1_000128" "g.46930091C>T" "" "" "" "COL18A1(NM_130445.2):c.3600C>T (p.R1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510177C>T" "" "likely benign" "" "0000273912" "0" "30" "21" "46930092" "46930092" "subst" "0.0127406" "01943" "COL18A1_000129" "g.46930092G>A" "" "" "" "COL18A1(NM_030582.3):c.4150G>A (p.(Ala1381Thr)), COL18A1(NM_130445.2):c.3601G>A (p.A1201T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510178G>A" "" "likely benign" "" "0000273913" "0" "30" "21" "46930112" "46930112" "subst" "9.72763E-5" "01943" "COL18A1_000130" "g.46930112G>A" "" "" "" "COL18A1(NM_130445.2):c.3621G>A (p.L1207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510198G>A" "" "likely benign" "" "0000273914" "0" "50" "21" "46930155" "46930155" "subst" "0.00143328" "01943" "COL18A1_000134" "g.46930155G>A" "" "" "" "COL18A1(NM_130444.3):c.4918G>A (p.V1640I), COL18A1(NM_130445.2):c.3664G>A (p.V1222M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510241G>A" "" "VUS" "" "0000273916" "0" "50" "21" "46931066" "46931066" "subst" "0.000402828" "01943" "COL18A1_000138" "g.46931066C>T" "" "" "" "COL18A1(NM_130445.2):c.3726C>T (p.G1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45511152C>T" "" "VUS" "" "0000273917" "0" "30" "21" "46931156" "46931156" "subst" "0.000674155" "01943" "COL18A1_000140" "g.46931156C>T" "" "" "" "COL18A1(NM_130445.2):c.3800+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45511242C>T" "" "likely benign" "" "0000273918" "0" "50" "21" "46932083" "46932083" "subst" "0.000365603" "01943" "COL18A1_000142" "g.46932083G>A" "" "" "" "COL18A1(NM_130445.2):c.3801-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512169G>A" "" "VUS" "" "0000273919" "0" "10" "21" "46932082" "46932082" "subst" "0.00212838" "01943" "COL18A1_000141" "g.46932082C>T" "" "" "" "COL18A1(NM_030582.4):c.4341-20C>T, COL18A1(NM_130445.2):c.3801-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512168C>T" "" "benign" "" "0000273920" "0" "30" "21" "46932115" "46932115" "subst" "0.00656853" "01943" "COL18A1_000143" "g.46932115G>T" "" "" "" "COL18A1(NM_030582.3):c.4363G>T (p.(Val1455Leu)), COL18A1(NM_030582.4):c.4354G>T (p.V1452L), COL18A1(NM_130445.2):c.3814G>T (p.V1272L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512201G>T" "" "likely benign" "" "0000273921" "0" "30" "21" "46932129" "46932129" "subst" "0.00100961" "01943" "COL18A1_000144" "g.46932129G>A" "" "" "" "COL18A1(NM_130444.3):c.5082G>A (p.K1694=), COL18A1(NM_130445.2):c.3828G>A (p.S1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512215G>A" "" "likely benign" "" "0000273922" "0" "30" "21" "46929449" "46929449" "subst" "0.00135104" "01943" "COL18A1_000118" "g.46929449C>T" "" "" "" "COL18A1(NM_030582.4):c.3960C>T (p.Y1320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509535C>T" "" "likely benign" "" "0000273923" "0" "10" "21" "46929467" "46929467" "subst" "0.459876" "01943" "COL18A1_000119" "g.46929467G>A" "" "" "" "COL18A1(NM_030582.4):c.3978G>A (p.A1326=), COL18A1(NM_130444.3):c.4692G>A (p.T1564=), COL18A1(NM_130445.2):c.3438G>A (p.A1146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509553G>A" "" "benign" "" "0000273924" "0" "10" "21" "46929529" "46929529" "del" "0" "01943" "COL18A1_000121" "g.46929529del" "" "" "" "COL18A1(NM_030582.4):c.4026+14delC, COL18A1(NM_130444.3):c.4740+14delC, COL18A1(NM_130445.2):c.3486+14delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509615del" "" "benign" "" "0000273925" "0" "30" "21" "46924383" "46924383" "subst" "0.0291726" "01943" "COL18A1_000093" "g.46924383C>T" "" "" "" "COL18A1(NM_130444.3):c.4026C>T (p.P1342=), COL18A1(NM_130445.2):c.2781C>T (p.P927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504469C>T" "" "likely benign" "" "0000273926" "0" "50" "21" "46929992" "46929992" "subst" "0.000544444" "01943" "COL18A1_000124" "g.46929992G>A" "" "" "" "COL18A1(NM_030582.4):c.4041G>A (p.A1347=), COL18A1(NM_130444.3):c.4755G>A (p.R1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510078G>A" "" "VUS" "" "0000273927" "0" "30" "21" "46930146" "46930146" "subst" "1.33243E-5" "01943" "COL18A1_000132" "g.46930146C>T" "" "" "" "COL18A1(NM_030582.4):c.4195C>T (p.R1399C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510232C>T" "" "likely benign" "" "0000273928" "0" "50" "21" "46930147" "46930147" "subst" "0.000663733" "01943" "COL18A1_000133" "g.46930147G>A" "" "" "" "COL18A1(NM_030582.4):c.4196G>A (p.R1399H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510233G>A" "" "VUS" "" "0000273929" "0" "10" "21" "46929426" "46929426" "subst" "0.000616177" "01943" "COL18A1_000116" "g.46929426G>A" "" "" "" "COL18A1(NM_130444.3):c.4651G>A (p.D1551N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509512G>A" "" "benign" "" "0000273930" "0" "30" "21" "46888517" "46888517" "subst" "9.3534E-5" "01943" "COL18A1_000016" "g.46888517C>T" "" "" "" "COL18A1(NM_130445.2):c.468C>T (p.P156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468603C>T" "" "likely benign" "" "0000273931" "0" "10" "21" "46930163" "46930163" "subst" "0.0403994" "01943" "COL18A1_000135" "g.46930163C>T" "" "" "" "COL18A1(NM_130444.3):c.4926C>T (p.L1642=), COL18A1(NM_130445.2):c.3672C>T (p.I1224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510249C>T" "" "benign" "" "0000273932" "0" "30" "21" "46888545" "46888545" "subst" "0.00152809" "01943" "COL18A1_000017" "g.46888545G>A" "" "" "" "COL18A1(NM_130444.3):c.1741G>A (p.A581T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468631G>A" "" "likely benign" "" "0000273933" "0" "10" "21" "46931109" "46931109" "subst" "0.065053" "01943" "COL18A1_000139" "g.46931109G>A" "" "" "" "COL18A1(NM_001379500.1):c.3778G>A (p.(Asp1260Asn)), COL18A1(NM_030582.4):c.4309G>A (p.D1437N), COL18A1(NM_130444.3):c.5023G>A (p.D1675N), COL18A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45511195G>A" "" "benign" "" "0000273934" "0" "30" "21" "46875961" "46875961" "subst" "0.00269652" "01943" "COL18A1_000008" "g.46875961G>A" "" "" "" "COL18A1(NM_030582.3):c.517G>A (p.(Gly173Ser)), COL18A1(NM_130444.3):c.517G>A (p.G173S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45456047G>A" "" "likely benign" "" "0000273935" "0" "10" "21" "46888652" "46888652" "subst" "0.00765185" "01943" "COL18A1_000018" "g.46888652C>T" "" "" "" "COL18A1(NM_130445.2):c.603C>T (p.A201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468738C>T" "" "benign" "" "0000273936" "0" "10" "21" "46888673" "46888673" "subst" "0.00783144" "01943" "COL18A1_000020" "g.46888673G>A" "" "" "" "COL18A1(NM_130445.2):c.624G>A (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468759G>A" "" "benign" "" "0000273937" "0" "30" "21" "46893824" "46893824" "subst" "0.000971251" "01943" "COL18A1_000022" "g.46893824C>T" "" "" "" "COL18A1(NM_130445.2):c.667C>T (p.L223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45473910C>T" "" "likely benign" "" "0000273938" "0" "10" "21" "46893915" "46893915" "subst" "0.00343227" "01943" "COL18A1_000028" "g.46893915C>T" "" "" "" "COL18A1(NM_130445.2):c.738+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45474001C>T" "" "benign" "" "0000273939" "0" "30" "21" "46896288" "46896288" "subst" "3.26664E-5" "01943" "COL18A1_000030" "g.46896288C>T" "" "" "" "COL18A1(NM_130445.2):c.822C>T (p.L274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476374C>T" "" "likely benign" "" "0000273940" "0" "30" "21" "46888337" "46888337" "subst" "4.46751E-5" "01943" "COL18A1_000014" "g.46888337C>T" "" "" "" "COL18A1(NM_130445.2):c.288C>T (p.F96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468423C>T" "" "likely benign" "" "0000273941" "0" "10" "21" "46896294" "46896294" "subst" "0.0294565" "01943" "COL18A1_000031" "g.46896294G>A" "" "" "" "COL18A1(NM_130445.2):c.828G>A (p.A276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476380G>A" "" "benign" "" "0000273942" "0" "10" "21" "46896312" "46896312" "subst" "0.142361" "01943" "COL18A1_000032" "g.46896312G>T" "" "" "" "COL18A1(NM_130445.2):c.846G>T (p.T282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476398G>T" "" "benign" "" "0000273943" "0" "30" "21" "46896321" "46896321" "subst" "0.000118248" "01943" "COL18A1_000033" "g.46896321G>A" "" "" "" "COL18A1(NM_130445.2):c.855G>A (p.L285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476407G>A" "" "likely benign" "" "0000273944" "0" "30" "21" "46896381" "46896381" "subst" "0.0323142" "01943" "COL18A1_000035" "g.46896381G>T" "" "" "" "COL18A1(NM_130445.2):c.915G>T (p.V305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476467G>T" "" "likely benign" "" "0000273945" "0" "30" "21" "46897321" "46897321" "subst" "0.000215999" "01943" "COL18A1_000036" "g.46897321C>A" "" "" "" "COL18A1(NM_130445.2):c.929-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45477407C>A" "" "likely benign" "" "0000328688" "0" "50" "21" "46875894" "46875894" "subst" "7.03171E-5" "01804" "COL18A1_000006" "g.46875894C>G" "" "" "" "COL18A1(NM_030582.3):c.450C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45455980C>G" "" "VUS" "" "0000328689" "0" "30" "21" "46875959" "46875959" "subst" "0.000444767" "01804" "COL18A1_000007" "g.46875959G>A" "" "" "" "COL18A1(NM_030582.3):c.515G>A (p.(Arg172His)), COL18A1(NM_030582.4):c.515G>A (p.R172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45456045G>A" "" "likely benign" "" "0000328691" "0" "50" "21" "46893845" "46893845" "dup" "0" "01804" "COL18A1_000024" "g.46893845dup" "" "" "" "COL18A1(NM_030582.3):c.1223_1224insC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45473931dup" "" "VUS" "" "0000328692" "0" "30" "21" "46893848" "46893848" "subst" "0.00101749" "01804" "COL18A1_000025" "g.46893848G>A" "" "" "" "COL18A1(NM_030582.3):c.1231G>A (p.(Val411Met)), COL18A1(NM_030582.4):c.1231G>A (p.V411M), COL18A1(NM_130444.3):c.1936G>A (p.V646M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45473934G>A" "" "likely benign" "" "0000328693" "0" "50" "21" "46896267" "46896267" "subst" "0.00028599" "01804" "COL18A1_000029" "g.46896267C>T" "" "" "" "COL18A1(NM_001379500.1):c.801C>T (p.(=)), COL18A1(NM_130445.2):c.801C>T (p.G267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476353C>T" "" "VUS" "" "0000328696" "0" "50" "21" "46912627" "46912627" "subst" "0.000137194" "01804" "COL18A1_000077" "g.46912627C>T" "" "" "" "COL18A1(NM_030582.3):c.2754C>T (p.(=)), COL18A1(NM_130445.2):c.2214C>T (p.P738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45492713C>T" "" "VUS" "" "0000328698" "0" "50" "21" "46924451" "46924451" "subst" "0.000945835" "01804" "COL18A1_000099" "g.46924451G>A" "" "" "" "COL18A1(NM_030582.3):c.3389G>A (p.(Arg1130His)), COL18A1(NM_130445.2):c.2840G>A (p.R947H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45504537G>A" "" "VUS" "" "0000328700" "0" "50" "21" "46925127" "46925127" "subst" "0.000993853" "01804" "COL18A1_000101" "g.46925127G>A" "" "" "" "COL18A1(NM_001379500.1):c.2948G>A (p.(Arg1163His), p.R983H), COL18A1(NM_030582.4):c.3479G>A (p.R1160H), COL18A1(NM_130444.3):c.4193G>A (p.R1398H), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505213G>A" "" "VUS" "" "0000328701" "0" "30" "21" "46925152" "46925160" "dup" "0" "01804" "COL18A1_000104" "g.46925152_46925160dup" "" "" "" "COL18A1(NM_030582.3):c.3501_3502insGGCCCCCCA (p.(Gly1171_Pro1173dup)), COL18A1(NM_130444.3):c.4209_4217dupCCCCCCAGG (p.G1406_P1408dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45505238_45505246dup" "" "likely benign" "" "0000328703" "0" "30" "21" "46927485" "46927485" "subst" "6.9508E-5" "01804" "COL18A1_000112" "g.46927485G>A" "" "" "" "COL18A1(NM_030582.3):c.3767G>A (p.(Arg1256Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507571G>A" "" "likely benign" "" "0000328707" "0" "30" "21" "46932115" "46932115" "subst" "0.00656853" "01804" "COL18A1_000143" "g.46932115G>T" "" "" "" "COL18A1(NM_030582.3):c.4363G>T (p.(Val1455Leu)), COL18A1(NM_030582.4):c.4354G>T (p.V1452L), COL18A1(NM_130445.2):c.3814G>T (p.V1272L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45512201G>T" "" "likely benign" "" "0000328708" "0" "50" "21" "46935074" "46935074" "subst" "0" "01804" "SLC19A1_000001" "g.46935074A>G" "" "" "" "SLC19A1(NM_001205206.1):c.1294-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45515160A>G" "" "VUS" "" "0000328709" "0" "50" "21" "46935817" "46935817" "subst" "0.000163585" "01804" "SLC19A1_000002" "g.46935817C>A" "" "" "" "SLC19A1(NM_001205207.1):c.1411G>T (p.(Val471Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45515903C>A" "" "VUS" "" "0000346863" "0" "90" "21" "46930005" "46930006" "del" "0.000302834" "02327" "COL18A1_000002" "g.46930005_46930006del" "" "" "" "COL18A1(NM_001379500.1):c.3523_3524del (p.(Leu1175fs)), COL18A1(NM_001379500.1):c.3523_3524delCT (p.L1175Vfs*72), COL18A1(NM_130445.2):c.3514_3515d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45510091_45510092del" "" "pathogenic" "" "0000350262" "0" "50" "21" "46888417" "46888417" "subst" "0" "02327" "COL18A1_000148" "g.46888417T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45468503T>A" "" "VUS" "" "0000570849" "0" "30" "21" "46875500" "46875500" "subst" "0.00138625" "01804" "COL18A1_000153" "g.46875500C>T" "" "" "" "COL18A1(NM_030582.3):c.56C>T (p.(Ala19Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455586C>T" "" "likely benign" "" "0000570851" "0" "30" "21" "46875555" "46875555" "subst" "8.12447E-6" "01943" "COL18A1_000155" "g.46875555C>T" "" "" "" "COL18A1(NM_130444.3):c.111C>T (p.D37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455641C>T" "" "likely benign" "" "0000570852" "0" "30" "21" "46875586" "46875586" "subst" "0.00484684" "01804" "COL18A1_000156" "g.46875586C>G" "" "" "" "COL18A1(NM_030582.3):c.142C>G (p.(Pro48Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455672C>G" "" "likely benign" "" "0000570853" "0" "30" "21" "46875756" "46875756" "subst" "0.000171657" "01943" "COL18A1_000157" "g.46875756G>A" "" "" "" "COL18A1(NM_130445.2):c.107-12400G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455842G>A" "" "likely benign" "" "0000570854" "0" "10" "21" "46875774" "46875774" "subst" "0.00236866" "01943" "COL18A1_000158" "g.46875774C>T" "" "" "" "COL18A1(NM_130444.3):c.330C>T (p.V110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455860C>T" "" "benign" "" "0000570855" "0" "30" "21" "46875874" "46875874" "subst" "0.0161969" "01804" "COL18A1_000159" "g.46875874G>A" "" "" "" "COL18A1(NM_030582.3):c.430G>A (p.(Val144Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455960G>A" "" "likely benign" "" "0000570856" "0" "50" "21" "46875958" "46875958" "subst" "4.12075E-5" "01943" "COL18A1_000160" "g.46875958C>T" "" "" "" "COL18A1(NM_030582.4):c.514C>T (p.R172C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456044C>T" "" "VUS" "" "0000570857" "0" "30" "21" "46875959" "46875959" "subst" "0.000444767" "01943" "COL18A1_000007" "g.46875959G>A" "" "" "" "COL18A1(NM_030582.3):c.515G>A (p.(Arg172His)), COL18A1(NM_030582.4):c.515G>A (p.R172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456045G>A" "" "likely benign" "" "0000570858" "0" "30" "21" "46875961" "46875961" "subst" "0.00269652" "01804" "COL18A1_000008" "g.46875961G>A" "" "" "" "COL18A1(NM_030582.3):c.517G>A (p.(Gly173Ser)), COL18A1(NM_130444.3):c.517G>A (p.G173S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456047G>A" "" "likely benign" "" "0000570859" "0" "30" "21" "46875978" "46875978" "subst" "0.000115606" "01943" "COL18A1_000161" "g.46875978G>T" "" "" "" "COL18A1(NM_130444.3):c.534G>T (p.P178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456064G>T" "" "likely benign" "" "0000570860" "0" "30" "21" "46875982" "46875982" "subst" "0.00728035" "01804" "COL18A1_000162" "g.46875982G>A" "" "" "" "COL18A1(NM_030582.3):c.538G>A (p.(Ala180Thr)), COL18A1(NM_030582.4):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456068G>A" "" "likely benign" "" "0000570861" "0" "30" "21" "46875993" "46875993" "subst" "4.9938E-5" "01943" "COL18A1_000163" "g.46875993C>T" "" "" "" "COL18A1(NM_130444.3):c.549C>T (p.T183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456079C>T" "" "likely benign" "" "0000570863" "0" "30" "21" "46876044" "46876044" "subst" "0.000809097" "01804" "COL18A1_000165" "g.46876044G>T" "" "" "" "COL18A1(NM_030582.3):c.600G>T (p.(Arg200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456130G>T" "" "likely benign" "" "0000570864" "0" "30" "21" "46876045" "46876045" "subst" "0.000765704" "01804" "COL18A1_000166" "g.46876045C>T" "" "" "" "COL18A1(NM_030582.3):c.601C>T (p.(Pro201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456131C>T" "" "likely benign" "" "0000570865" "0" "10" "21" "46876083" "46876083" "subst" "0.334666" "02329" "COL18A1_000167" "g.46876083A>G" "" "" "" "COL18A1(NM_130444.3):c.639A>G (p.P213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456169A>G" "" "benign" "" "0000570866" "0" "10" "21" "46876156" "46876156" "subst" "0" "01943" "COL18A1_000168" "g.46876156A>C" "" "" "" "COL18A1(NM_130444.3):c.712A>C (p.S238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456242A>C" "" "benign" "" "0000570867" "0" "50" "21" "46876216" "46876216" "subst" "0" "01943" "COL18A1_000169" "g.46876216C>T" "" "" "" "COL18A1(NM_130444.3):c.772C>T (p.R258C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456302C>T" "" "VUS" "" "0000570868" "0" "30" "21" "46876281" "46876281" "subst" "0" "01943" "COL18A1_000170" "g.46876281C>T" "" "" "" "COL18A1(NM_130444.3):c.837C>T (p.S279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456367C>T" "" "likely benign" "" "0000570869" "0" "50" "21" "46876489" "46876505" "dup" "0" "02330" "COL18A1_000171" "g.46876489_46876505dup" "" "" "" "COL18A1(NM_130444.3):c.1045_1061dupATCTCACGCTTCTGGCT (p.P355Sfs*190)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456575_45456591dup" "" "VUS" "" "0000570870" "0" "30" "21" "46876658" "46876658" "subst" "0" "01943" "COL18A1_000172" "g.46876658C>T" "" "" "" "COL18A1(NM_130444.3):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456744C>T" "" "likely benign" "" "0000570871" "0" "50" "21" "46876677" "46876677" "subst" "0" "01943" "COL18A1_000173" "g.46876677C>A" "" "" "" "COL18A1(NM_130444.3):c.1233C>A (p.F411L, p.(Phe411Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456763C>A" "" "VUS" "" "0000570872" "0" "30" "21" "46876734" "46876734" "subst" "0" "01943" "COL18A1_000174" "g.46876734C>T" "" "" "" "COL18A1(NM_130444.3):c.1290C>T (p.V430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456820C>T" "" "likely benign" "" "0000570873" "0" "50" "21" "46888345" "46888345" "subst" "1.62456E-5" "01943" "COL18A1_000175" "g.46888345G>A" "" "" "" "COL18A1(NM_130444.3):c.1541G>A (p.R514Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45468431G>A" "" "VUS" "" "0000570876" "0" "10" "21" "46888559" "46888559" "subst" "0.00772301" "01943" "COL18A1_000177" "g.46888559A>G" "" "" "" "COL18A1(NM_130445.2):c.510A>G (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45468645A>G" "" "benign" "" "0000570877" "0" "10" "21" "46888661" "46888661" "subst" "0.00147924" "02330" "COL18A1_000178" "g.46888661C>T" "" "" "" "COL18A1(NM_030582.4):c.1152C>T (p.F384=), COL18A1(NM_130444.3):c.1857C>T (p.F619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45468747C>T" "" "benign" "" "0000570878" "0" "50" "21" "46888662" "46888662" "subst" "5.4538E-5" "01943" "COL18A1_000179" "g.46888662G>A" "" "" "" "COL18A1(NM_130445.2):c.613G>A (p.V205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45468748G>A" "" "VUS" "" "0000570879" "0" "50" "21" "46895394" "46895394" "subst" "0.000510155" "01943" "COL18A1_000180" "g.46895394C>T" "" "" "" "COL18A1(NM_130445.2):c.743C>T (p.S248F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45475480C>T" "" "VUS" "" "0000570881" "0" "30" "21" "46896267" "46896267" "subst" "0.00028599" "01943" "COL18A1_000029" "g.46896267C>T" "" "" "" "COL18A1(NM_001379500.1):c.801C>T (p.(=)), COL18A1(NM_130445.2):c.801C>T (p.G267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45476353C>T" "" "likely benign" "" "0000570882" "0" "10" "21" "46896303" "46896303" "subst" "0.00118214" "01943" "COL18A1_000181" "g.46896303C>A" "" "" "" "COL18A1(NM_130444.3):c.2082C>A (p.P694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45476389C>A" "" "benign" "" "0000570883" "0" "10" "21" "46896303" "46896303" "subst" "0.146888" "01943" "COL18A1_000182" "g.46896303C>G" "" "" "" "COL18A1(NM_001379500.1):c.837C>G (p.P279=), COL18A1(NM_130445.2):c.837C>G (p.P279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45476389C>G" "" "benign" "" "0000570884" "0" "30" "21" "46896399" "46896399" "subst" "3.35686E-5" "01804" "COL18A1_000183" "g.46896399G>C" "" "" "" "COL18A1(NM_001379500.1):c.928+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45476485G>C" "" "likely benign" "" "0000570885" "0" "50" "21" "46897375" "46897375" "subst" "9.53842E-5" "01943" "COL18A1_000184" "g.46897375C>T" "" "" "" "COL18A1(NM_130444.3):c.2224C>T (p.R742W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477461C>T" "" "VUS" "" "0000570886" "0" "30" "21" "46897408" "46897408" "subst" "0.000519658" "01804" "COL18A1_000185" "g.46897408C>G" "" "" "" "COL18A1(NM_030582.3):c.1545+7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477494C>G" "" "likely benign" "" "0000570887" "0" "30" "21" "46897701" "46897701" "subst" "0" "01804" "COL18A1_000186" "g.46897701C>T" "" "" "" "COL18A1(NM_030582.3):c.1583C>T (p.(Pro528Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477787C>T" "" "likely benign" "" "0000570888" "0" "30" "21" "46897722" "46897722" "subst" "0" "01943" "COL18A1_000187" "g.46897722G>A" "" "" "" "COL18A1(NM_130444.3):c.2309G>A (p.G770D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477808G>A" "" "likely benign" "" "0000570889" "0" "30" "21" "46897755" "46897755" "subst" "6.66347E-6" "01804" "COL18A1_000188" "g.46897755C>G" "" "" "" "COL18A1(NM_030582.3):c.1637C>G (p.(Pro546Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477841C>G" "" "likely benign" "" "0000570890" "0" "10" "21" "46897816" "46897816" "subst" "0.000100377" "02330" "COL18A1_000189" "g.46897816C>G" "" "" "" "COL18A1(NM_130444.3):c.2403C>G (p.P801=), COL18A1(NM_130445.2):c.1158C>G (p.P386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477902C>G" "" "benign" "" "0000570891" "0" "30" "21" "46897816" "46897816" "subst" "0.000100377" "01943" "COL18A1_000189" "g.46897816C>G" "" "" "" "COL18A1(NM_130444.3):c.2403C>G (p.P801=), COL18A1(NM_130445.2):c.1158C>G (p.P386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477902C>G" "" "likely benign" "" "0000570892" "0" "50" "21" "46899828" "46899828" "subst" "3.25571E-5" "01943" "COL18A1_000190" "g.46899828C>T" "" "" "" "COL18A1(NM_130444.3):c.2506C>T (p.P836S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45479914C>T" "" "VUS" "" "0000570893" "0" "50" "21" "46899883" "46899883" "subst" "0.000236299" "01804" "COL18A1_000048" "g.46899883G>C" "" "" "" "COL18A1(NM_001379500.1):c.1311+5G>C, COL18A1(NM_130445.2):c.1311+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45479969G>C" "" "VUS" "" "0000570894" "0" "30" "21" "46900608" "46900608" "subst" "0.000182077" "01943" "COL18A1_000191" "g.46900608G>A" "" "" "" "COL18A1(NM_130445.2):c.1453-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45480694G>A" "" "likely benign" "" "0000570895" "0" "30" "21" "46900701" "46900701" "subst" "0.000245404" "01943" "COL18A1_000192" "g.46900701G>A" "" "" "" "COL18A1(NM_130444.3):c.2785G>A (p.D929N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45480787G>A" "" "likely benign" "" "0000570896" "0" "30" "21" "46902702" "46902702" "subst" "0.000125897" "01943" "COL18A1_000193" "g.46902702C>T" "" "" "" "COL18A1(NM_001379500.1):c.1675-7C>T, COL18A1(NM_030582.4):c.2215-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45482788C>T" "" "likely benign" "" "0000570897" "0" "30" "21" "46902703" "46902703" "subst" "0.00304987" "01804" "COL18A1_000194" "g.46902703G>A" "" "" "" "COL18A1(NM_030582.3):c.2215-6G>A (p.(=)), COL18A1(NM_030582.4):c.2215-6G>A, COL18A1(NM_130444.3):c.2920-6G>A, COL18A1(NM_130445.2):c.1675-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45482789G>A" "" "likely benign" "" "0000570898" "0" "50" "21" "46902721" "46902721" "subst" "0.000393918" "01943" "COL18A1_000195" "g.46902721G>A" "" "" "" "COL18A1(NM_130444.3):c.2932G>A (p.A978T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45482807G>A" "" "VUS" "" "0000570900" "0" "30" "21" "46906873" "46906881" "del" "0" "01804" "COL18A1_000197" "g.46906873_46906881del" "" "" "" "COL18A1(NM_030582.3):c.2326_2334del (p.(Pro777_Pro779del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45486959_45486967del" "" "likely benign" "" "0000570901" "0" "30" "21" "46906873" "46906881" "dup" "0" "01943" "COL18A1_000198" "g.46906873_46906881dup" "" "" "" "COL18A1(NM_030582.4):c.2340_2348dupTGGGCCCCC (p.P783_P785dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45486959_45486967dup" "" "likely benign" "" "0000570902" "0" "30" "21" "46908340" "46908340" "subst" "0.000780386" "01943" "COL18A1_000199" "g.46908340C>T" "" "" "" "COL18A1(NM_130444.3):c.3150C>T (p.P1050=), COL18A1(NM_130445.2):c.1905C>T (p.P635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45488426C>T" "" "likely benign" "" "0000570903" "0" "10" "21" "46909426" "46909426" "subst" "0.0656142" "01943" "COL18A1_000200" "g.46909426G>A" "" "" "" "COL18A1(NM_130445.2):c.1950G>A (p.P650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45489512G>A" "" "benign" "" "0000570904" "0" "30" "21" "46911171" "46911171" "subst" "2.46065E-5" "01943" "COL18A1_000201" "g.46911171G>A" "" "" "" "COL18A1(NM_130445.2):c.2100G>A (p.P700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45491257G>A" "" "likely benign" "" "0000570905" "0" "90" "21" "46911189" "46911189" "dup" "0" "01943" "COL18A1_000202" "g.46911189dup" "" "" "" "COL18A1(NM_130445.2):c.2118dupC (p.G707Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45491275dup" "" "pathogenic" "" "0000570906" "0" "90" "21" "46911230" "46911230" "subst" "0" "02327" "COL18A1_000203" "g.46911230T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45491316T>C" "" "pathogenic" "" "0000570907" "0" "30" "21" "46912464" "46912464" "subst" "0.00204385" "02330" "COL18A1_000204" "g.46912464G>A" "" "" "" "COL18A1(NM_030582.3):c.2713G>A (p.(Val905Met)), COL18A1(NM_030582.4):c.2713G>A (p.V905M), COL18A1(NM_130444.3):c.3418G>A (p.V1140M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45492550G>A" "" "likely benign" "" "0000570908" "0" "30" "21" "46912464" "46912464" "subst" "0.00204385" "01804" "COL18A1_000204" "g.46912464G>A" "" "" "" "COL18A1(NM_030582.3):c.2713G>A (p.(Val905Met)), COL18A1(NM_030582.4):c.2713G>A (p.V905M), COL18A1(NM_130444.3):c.3418G>A (p.V1140M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45492550G>A" "" "likely benign" "" "0000570909" "0" "50" "21" "46912616" "46912616" "subst" "5.34817E-5" "01943" "COL18A1_000205" "g.46912616G>C" "" "" "" "COL18A1(NM_130444.3):c.3448G>C (p.A1150P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45492702G>C" "" "VUS" "" "0000570911" "0" "30" "21" "46914467" "46914467" "subst" "0.000122114" "01943" "COL18A1_000207" "g.46914467G>T" "" "" "" "COL18A1(NM_130444.3):c.3606G>T (p.P1202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45494553G>T" "" "likely benign" "" "0000570912" "0" "30" "21" "46914492" "46914492" "subst" "0.00400622" "01943" "COL18A1_000208" "g.46914492C>T" "" "" "" "COL18A1(NM_030582.4):c.2919+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45494578C>T" "" "likely benign" "" "0000570913" "0" "10" "21" "46914784" "46914784" "subst" "0.000176994" "02330" "COL18A1_000082" "g.46914784C>T" "" "" "" "COL18A1(NM_130444.3):c.3633C>T (p.Y1211=), COL18A1(NM_130445.2):c.2388C>T (p.Y796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45494870C>T" "" "benign" "" "0000570914" "0" "30" "21" "46916463" "46916463" "subst" "0" "01804" "COL18A1_000209" "g.46916463C>T" "" "" "" "COL18A1(NM_030582.3):c.3098C>T (p.(Thr1033Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45496549C>T" "" "likely benign" "" "0000570915" "0" "30" "21" "46916964" "46916964" "subst" "5.34768E-5" "01943" "COL18A1_000210" "g.46916964G>T" "" "" "" "COL18A1(NM_130444.3):c.3823G>T (p.V1275L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45497050G>T" "" "likely benign" "" "0000570918" "0" "30" "21" "46924322" "46924322" "subst" "0.0184026" "01804" "COL18A1_000092" "g.46924322G>A" "" "" "" "COL18A1(NM_030582.3):c.3268-8G>A (p.(=)), COL18A1(NM_130445.2):c.2728-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504408G>A" "" "likely benign" "" "0000570919" "0" "30" "21" "46924358" "46924358" "subst" "1.25336E-5" "01804" "COL18A1_000212" "g.46924358G>C" "" "" "" "COL18A1(NM_001379500.1):c.2756G>C (p.G919A), COL18A1(NM_030582.3):c.3296G>C (p.(Gly1099Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504444G>C" "" "likely benign" "" "0000570920" "0" "30" "21" "46924384" "46924384" "subst" "0.00112682" "02330" "COL18A1_000095" "g.46924384G>C" "" "" "" "COL18A1(NM_030582.3):c.3322G>C (p.(Gly1108Arg)), COL18A1(NM_130444.3):c.4027G>C (p.G1343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504470G>C" "" "likely benign" "" "0000570921" "0" "30" "21" "46924384" "46924384" "subst" "0.00112682" "01804" "COL18A1_000095" "g.46924384G>C" "" "" "" "COL18A1(NM_030582.3):c.3322G>C (p.(Gly1108Arg)), COL18A1(NM_130444.3):c.4027G>C (p.G1343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504470G>C" "" "likely benign" "" "0000570922" "0" "30" "21" "46924425" "46924442" "del" "0" "01804" "COL18A1_000213" "g.46924425_46924442del" "" "" "" "COL18A1(NM_030582.3):c.3355_3372del (p.(Pro1124_Pro1129del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504511_45504528del" "" "likely benign" "" "0000570923" "0" "30" "21" "46924431" "46924448" "del" "0" "01804" "COL18A1_000214" "g.46924431_46924448del" "" "" "" "COL18A1(NM_030582.3):c.3364_3381del (p.(Pro1124_Pro1129del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504517_45504534del" "" "likely benign" "" "0000570924" "0" "30" "21" "46924438" "46924443" "del" "0" "01943" "COL18A1_000215" "g.46924438_46924443del" "" "" "" "COL18A1(NM_030582.4):c.3367_3372delCCCCCA (p.P1123_P1124del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504524_45504529del" "" "likely benign" "" "0000570925" "0" "30" "21" "46924440" "46924448" "del" "0" "01804" "COL18A1_000098" "g.46924440_46924448del" "" "" "" "COL18A1(NM_030582.3):c.3373_3381del (p.(Pro1127_Pro1129del)), COL18A1(NM_030582.4):c.3369_3377delCCCAGGCCC (p.P1124_P1126del), COL18A1(NM_130444.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504526_45504534del" "" "likely benign" "" "0000570926" "0" "50" "21" "46924451" "46924451" "subst" "0.000945835" "01943" "COL18A1_000099" "g.46924451G>A" "" "" "" "COL18A1(NM_030582.3):c.3389G>A (p.(Arg1130His)), COL18A1(NM_130445.2):c.2840G>A (p.R947H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504537G>A" "" "VUS" "" "0000570927" "0" "50" "21" "46925127" "46925127" "subst" "0.000993853" "02330" "COL18A1_000101" "g.46925127G>A" "" "" "" "COL18A1(NM_001379500.1):c.2948G>A (p.(Arg1163His), p.R983H), COL18A1(NM_030582.4):c.3479G>A (p.R1160H), COL18A1(NM_130444.3):c.4193G>A (p.R1398H), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505213G>A" "" "VUS" "" "0000570928" "0" "10" "21" "46925140" "46925140" "subst" "0.000812683" "01943" "COL18A1_000216" "g.46925140C>T" "" "" "" "COL18A1(NM_130444.3):c.4206C>T (p.P1402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505226C>T" "" "benign" "" "0000570930" "0" "30" "21" "46925152" "46925160" "del" "0" "01804" "COL18A1_000218" "g.46925152_46925160del" "" "" "" "COL18A1(NM_030582.3):c.3502_3510del (p.(Gly1171_Pro1173del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505238_45505246del" "" "likely benign" "" "0000570931" "0" "50" "21" "46925152" "46925160" "dup" "0" "01943" "COL18A1_000104" "g.46925152_46925160dup" "" "" "" "COL18A1(NM_030582.3):c.3501_3502insGGCCCCCCA (p.(Gly1171_Pro1173dup)), COL18A1(NM_130444.3):c.4209_4217dupCCCCCCAGG (p.G1406_P1408dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505238_45505246dup" "" "VUS" "" "0000570933" "0" "50" "21" "46925315" "46925323" "del" "0" "01943" "COL18A1_000109" "g.46925315_46925323del" "" "" "" "COL18A1(NM_130444.3):c.4293_4301delGCCCCCTGG (p.P1432_G1434del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505401_45505409del" "" "VUS" "" "0000570934" "0" "30" "21" "46925334" "46925334" "subst" "9.73378E-5" "01804" "COL18A1_000220" "g.46925334G>A" "" "" "" "COL18A1(NM_030582.3):c.3616G>A (p.(Ala1203Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505420G>A" "" "likely benign" "" "0000570935" "0" "30" "21" "46925354" "46925355" "del" "0" "01804" "COL18A1_000110" "g.46925354_46925355del" "" "" "" "COL18A1(NM_030582.3):c.3627+8_3627+9del (p.(=)), COL18A1(NM_130445.2):c.3078+9_3078+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505440_45505441del" "" "likely benign" "" "0000570937" "0" "30" "21" "46925862" "46925862" "subst" "0.000326563" "01943" "COL18A1_000222" "g.46925862C>T" "" "" "" "COL18A1(NM_130444.3):c.4443C>T (p.R1481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505948C>T" "" "likely benign" "" "0000570938" "0" "50" "21" "46925870" "46925870" "subst" "4.90412E-5" "01943" "COL18A1_000223" "g.46925870G>A" "" "" "" "COL18A1(NM_030582.3):c.3746G>A (p.(Arg1249Gln)), COL18A1(NM_130444.3):c.4451G>A (p.R1484Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505956G>A" "" "VUS" "" "0000570939" "0" "30" "21" "46925870" "46925870" "subst" "4.90412E-5" "01804" "COL18A1_000223" "g.46925870G>A" "" "" "" "COL18A1(NM_030582.3):c.3746G>A (p.(Arg1249Gln)), COL18A1(NM_130444.3):c.4451G>A (p.R1484Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505956G>A" "" "likely benign" "" "0000570940" "0" "30" "21" "46927507" "46927507" "subst" "4.49846E-5" "01943" "COL18A1_000224" "g.46927507G>A" "" "" "" "COL18A1(NM_130444.3):c.4494G>A (p.E1498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507593G>A" "" "likely benign" "" "0000570941" "0" "10" "21" "46929255" "46929255" "subst" "0.00370553" "02330" "COL18A1_000114" "g.46929255G>A" "" "" "" "COL18A1(NM_130444.3):c.4495-15G>A, COL18A1(NM_130445.2):c.3241-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509341G>A" "" "benign" "" "0000570942" "0" "50" "21" "46929372" "46929372" "subst" "0.0066518" "01943" "COL18A1_000225" "g.46929372G>A" "" "" "" "COL18A1(NM_030582.3):c.3892G>A (p.(Ala1298Thr)), COL18A1(NM_130444.3):c.4597G>A (p.V1533I), COL18A1(NM_130445.2):c.3343G>A (p.A1115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509458G>A" "" "VUS" "" "0000570943" "0" "30" "21" "46929372" "46929372" "subst" "0.0066518" "01804" "COL18A1_000225" "g.46929372G>A" "" "" "" "COL18A1(NM_030582.3):c.3892G>A (p.(Ala1298Thr)), COL18A1(NM_130444.3):c.4597G>A (p.V1533I), COL18A1(NM_130445.2):c.3343G>A (p.A1115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509458G>A" "" "likely benign" "" "0000570944" "0" "30" "21" "46929372" "46929372" "subst" "0.0066518" "02329" "COL18A1_000225" "g.46929372G>A" "" "" "" "COL18A1(NM_030582.3):c.3892G>A (p.(Ala1298Thr)), COL18A1(NM_130444.3):c.4597G>A (p.V1533I), COL18A1(NM_130445.2):c.3343G>A (p.A1115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509458G>A" "" "likely benign" "" "0000570945" "0" "30" "21" "46929451" "46929451" "subst" "0" "01804" "COL18A1_000226" "g.46929451T>C" "" "" "" "COL18A1(NM_030582.3):c.3971T>C (p.(Val1321Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509537T>C" "" "likely benign" "" "0000570946" "0" "30" "21" "46929500" "46929500" "subst" "0.000392495" "02330" "COL18A1_000227" "g.46929500C>T" "" "" "" "COL18A1(NM_030582.4):c.4011C>T (p.R1337=), COL18A1(NM_130444.3):c.4725C>T (p.H1575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509586C>T" "" "likely benign" "" "0000570947" "0" "30" "21" "46929500" "46929500" "subst" "0.000392495" "01943" "COL18A1_000227" "g.46929500C>T" "" "" "" "COL18A1(NM_030582.4):c.4011C>T (p.R1337=), COL18A1(NM_130444.3):c.4725C>T (p.H1575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509586C>T" "" "likely benign" "" "0000570951" "0" "30" "21" "46930085" "46930085" "subst" "9.41554E-5" "01943" "COL18A1_000229" "g.46930085C>T" "" "" "" "COL18A1(NM_130444.3):c.4848C>T (p.A1616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45510171C>T" "" "likely benign" "" "0000570952" "0" "30" "21" "46930092" "46930092" "subst" "0.0127406" "01804" "COL18A1_000129" "g.46930092G>A" "" "" "" "COL18A1(NM_030582.3):c.4150G>A (p.(Ala1381Thr)), COL18A1(NM_130445.2):c.3601G>A (p.A1201T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45510178G>A" "" "likely benign" "" "0000570953" "0" "10" "21" "46930155" "46930155" "subst" "0.00143328" "02330" "COL18A1_000134" "g.46930155G>A" "" "" "" "COL18A1(NM_130444.3):c.4918G>A (p.V1640I), COL18A1(NM_130445.2):c.3664G>A (p.V1222M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45510241G>A" "" "benign" "" "0000570956" "0" "10" "21" "46931009" "46931010" "dup" "0" "02329" "COL18A1_000231" "g.46931009_46931010dup" "" "" "" "COL18A1(NM_130444.3):c.4939-16_4939-15dupAC, COL18A1(NM_130445.2):c.3685-17_3685-16insAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45511095_45511096dup" "" "benign" "" "0000570957" "0" "10" "21" "46931009" "46931010" "dup" "0" "01943" "COL18A1_000231" "g.46931009_46931010dup" "" "" "" "COL18A1(NM_130444.3):c.4939-16_4939-15dupAC, COL18A1(NM_130445.2):c.3685-17_3685-16insAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45511095_45511096dup" "" "benign" "" "0000570958" "0" "50" "21" "46931094" "46931094" "subst" "0.000321017" "01943" "COL18A1_000232" "g.46931094C>T" "" "" "" "COL18A1(NM_130444.3):c.5008C>T (p.P1670S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45511180C>T" "" "VUS" "" "0000570959" "0" "30" "21" "46931111" "46931111" "subst" "0" "01943" "COL18A1_000233" "g.46931111C>T" "" "" "" "COL18A1(NM_130444.3):c.5025C>T (p.D1675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45511197C>T" "" "likely benign" "" "0000570960" "0" "10" "21" "46932129" "46932129" "subst" "0.00100961" "02330" "COL18A1_000144" "g.46932129G>A" "" "" "" "COL18A1(NM_130444.3):c.5082G>A (p.K1694=), COL18A1(NM_130445.2):c.3828G>A (p.S1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45512215G>A" "" "benign" "" "0000570961" "0" "30" "21" "46932257" "46932257" "subst" "0.000196231" "01943" "COL18A1_000234" "g.46932257A>G" "" "" "" "COL18A1(NM_130444.3):c.5210A>G (p.Y1737C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45512343A>G" "" "likely benign" "" "0000570963" "0" "30" "21" "46935942" "46935942" "subst" "0.00443146" "01804" "COL18A1_000236" "g.46935942G>A" "" "" "" "SLC19A1(NM_001205207.1):c.1286C>T (p.(Ala429Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45516028G>A" "" "likely benign" "" "0000618404" "0" "30" "21" "46900668" "46900668" "subst" "4.15866E-5" "01804" "COL18A1_000242" "g.46900668G>A" "" "" "" "COL18A1(NM_030582.3):c.2047G>A (p.(Gly683Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45480754G>A" "" "likely benign" "" "0000618405" "0" "10" "21" "46910730" "46910730" "subst" "0.000349608" "02330" "COL18A1_000243" "g.46910730T>C" "" "" "" "COL18A1(NM_130444.3):c.3277-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45490816T>C" "" "benign" "" "0000618406" "0" "30" "21" "46912440" "46912440" "subst" "0.000804394" "02330" "COL18A1_000244" "g.46912440C>T" "" "" "" "COL18A1(NM_130444.3):c.3403-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45492526C>T" "" "likely benign" "" "0000618407" "0" "30" "21" "46913477" "46913477" "subst" "0.0216253" "01804" "COL18A1_000079" "g.46913477G>C" "" "" "" "COL18A1(NM_030582.3):c.2880G>C (p.(Gln960His)), COL18A1(NM_130445.2):c.2340G>C (p.Q780H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45493563G>C" "" "likely benign" "" "0000618408" "0" "30" "21" "46914808" "46914808" "subst" "8.34571E-6" "01804" "COL18A1_000245" "g.46914808G>C" "" "" "" "COL18A1(NM_030582.3):c.2952G>C (p.(Glu984Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45494894G>C" "" "likely benign" "" "0000618409" "0" "10" "21" "46924440" "46924448" "del" "0" "02330" "COL18A1_000097" "g.46924440_46924448del" "" "" "" "COL18A1(NM_030582.3):c.3373_3381del (p.(Pro1127_Pro1129del)), COL18A1(NM_030582.4):c.3369_3377delCCCAGGCCC (p.P1124_P1126del), COL18A1(NM_130444.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504526_45504534del" "" "benign" "" "0000618410" "0" "30" "21" "46925157" "46925158" "ins" "0.0176618" "01804" "COL18A1_000247" "g.46925157_46925158insCGGCCCCCC" "" "" "" "COL18A1(NM_001379500.1):c.2978_2979insCGGCCCCCC (p.G994_P996dup), COL18A1(NM_030582.3):c.3510_3511insGGCCCCCCC (p.(Gly1171_Pro1173dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505243_45505244insCGGCCCCCC" "" "likely benign" "" "0000618411" "0" "90" "21" "46925324" "46925325" "del" "0" "01943" "COL18A1_000248" "g.46925324_46925325del" "" "" "" "COL18A1(NM_130445.2):c.3057_3058delAA (p.T1020Hfs*63)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505410_45505411del" "" "pathogenic" "" "0000618412" "0" "90" "21" "46925325" "46925326" "ins" "0" "01943" "COL18A1_000249" "g.46925325_46925326insGCC" "" "" "" "COL18A1(NM_130445.2):c.3058_3059insGCC (p.T1020delinsSP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505411_45505412insGCC" "" "pathogenic" "" "0000618413" "0" "30" "21" "46925335" "46925335" "subst" "0.000208699" "01943" "COL18A1_000250" "g.46925335C>T" "" "" "" "COL18A1(NM_130444.3):c.4322C>T (p.A1441V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505421C>T" "" "likely benign" "" "0000618414" "0" "10" "21" "46929529" "46929529" "subst" "0.00422835" "02330" "COL18A1_000122" "g.46929529C>G" "" "" "" "COL18A1(NM_030582.4):c.4026+14C>G, COL18A1(NM_130444.3):c.4740+14C>G, COL18A1(NM_130445.2):c.3486+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509615C>G" "" "benign" "" "0000618415" "0" "50" "21" "46932115" "46932115" "subst" "1.66608E-5" "01943" "COL18A1_000253" "g.46932115G>A" "" "" "" "COL18A1(NM_030582.4):c.4354G>A (p.V1452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45512201G>A" "" "VUS" "" "0000624232" "0" "30" "21" "46875744" "46875744" "subst" "1.22451E-5" "01943" "COL18A1_000237" "g.46875744G>A" "" "" "" "COL18A1(NM_130444.3):c.300G>A (p.P100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45455830G>A" "" "likely benign" "" "0000624233" "0" "50" "21" "46876106" "46876106" "subst" "8.35743E-5" "01943" "COL18A1_000238" "g.46876106C>T" "" "" "" "COL18A1(NM_130444.3):c.662C>T (p.S221F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456192C>T" "" "VUS" "" "0000624234" "0" "30" "21" "46895431" "46895431" "subst" "0.000553368" "01943" "COL18A1_000239" "g.46895431G>C" "" "" "" "COL18A1(NM_130444.3):c.2025G>C (p.E675D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45475517G>C" "" "likely benign" "" "0000624235" "0" "50" "21" "46897751" "46897751" "subst" "0" "01943" "COL18A1_000240" "g.46897751C>T" "" "" "" "COL18A1(NM_130445.2):c.1093C>T (p.P365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45477837C>T" "" "VUS" "" "0000624236" "0" "30" "21" "46917524" "46917524" "subst" "5.97051E-6" "01943" "COL18A1_000246" "g.46917524C>T" "" "" "" "COL18A1(NM_130444.3):c.3877C>T (p.P1293S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45497610C>T" "" "likely benign" "" "0000624237" "0" "30" "21" "46929336" "46929336" "subst" "0.000332577" "01943" "COL18A1_000251" "g.46929336C>T" "" "" "" "COL18A1(NM_130444.3):c.4561C>T (p.P1521S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509422C>T" "" "likely benign" "" "0000624238" "0" "30" "21" "46929400" "46929400" "subst" "4.26554E-5" "01943" "COL18A1_000252" "g.46929400G>A" "" "" "" "COL18A1(NM_030582.3):c.3920G>A (p.(Arg1304His)), COL18A1(NM_130444.3):c.4625G>A (p.G1542E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509486G>A" "" "likely benign" "" "0000624239" "0" "50" "21" "46932130" "46932130" "subst" "0" "01943" "COL18A1_000254" "g.46932130G>A" "" "" "" "COL18A1(NM_130445.2):c.3829G>A (p.D1277N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45512216G>A" "" "VUS" "" "0000650882" "1" "30" "21" "46924322" "46924322" "subst" "0.0184026" "03575" "COL18A1_000092" "g.46924322G>A" "146/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "146 heterozygous; {DB:CLININrs116618591}" "Germline" "" "rs116618591" "0" "" "" "g.45504408G>A" "" "likely benign" "" "0000650883" "1" "30" "21" "46930092" "46930092" "subst" "0.0127406" "03575" "COL18A1_000129" "g.46930092G>A" "98/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "98 heterozygous; {DB:CLININrs144147445}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs144147445" "0" "" "" "g.45510178G>A" "" "likely benign" "" "0000650884" "1" "30" "21" "46930155" "46930155" "subst" "0.00143328" "03575" "COL18A1_000134" "g.46930155G>A" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs77326997}\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs77326997" "0" "" "" "g.45510241G>A" "" "likely benign" "" "0000650885" "1" "10" "21" "46930163" "46930163" "subst" "0.0403994" "03575" "COL18A1_000135" "g.46930163C>T" "104/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "104 heterozygous, no homozygous; {DB:CLININrs2838952}\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs2838952" "0" "" "" "g.45510249C>T" "" "benign" "" "0000650886" "1" "10" "21" "46931109" "46931109" "subst" "0.065053" "03575" "COL18A1_000139" "g.46931109G>A" "229/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "229 heterozygous; {DB:CLININrs12483377}\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs12483377" "0" "" "" "g.45511195G>A" "" "benign" "" "0000658853" "0" "30" "21" "46876123" "46876123" "subst" "1.26185E-5" "01943" "COL18A1_000255" "g.46876123G>A" "" "" "" "COL18A1(NM_130444.3):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45456209G>A" "" "likely benign" "" "0000658855" "0" "50" "21" "46913115" "46913115" "subst" "0" "01943" "COL18A1_000257" "g.46913115C>T" "" "" "" "COL18A1(NM_130444.3):c.3498C>T (p.G1166=), COL18A1(NM_130445.2):c.2253C>T (p.G751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45493201C>T" "" "VUS" "" "0000658856" "0" "30" "21" "46923935" "46923935" "subst" "0.000748369" "01943" "COL18A1_000258" "g.46923935G>A" "" "" "" "COL18A1(NM_130444.3):c.3939G>A (p.P1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45504021G>A" "" "likely benign" "" "0000658857" "0" "50" "21" "46925823" "46925823" "subst" "8.16107E-6" "01943" "COL18A1_000259" "g.46925823C>G" "" "" "" "COL18A1(NM_130445.2):c.3150C>G (p.F1050L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45505909C>G" "" "VUS" "" "0000658858" "0" "50" "21" "46935768" "46935773" "dup" "0" "01943" "COL18A1_000260" "g.46935768_46935773dup" "" "" "" "SLC19A1(NM_001352510.1):c.1226_1231dupAGGCCC (p.Q409_A410dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45515854_45515859dup" "" "VUS" "" "0000663586" "1" "50" "21" "46876654" "46876654" "subst" "0" "00006" "COL18A1_000261" "g.46876654G>A" "" "{PMID:Arno 2017:28132693}" "" "ENST00000359759.4: c.1210G>A (Ala404Thr)" "heterozygous variant only, does not fit phenotype" "Germline" "" "" "0" "" "" "g.45456740G>A" "" "VUS" "" "0000669695" "3" "30" "21" "46924322" "46924322" "subst" "0.0184026" "03575" "COL18A1_000092" "g.46924322G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs116618591}" "Germline" "" "rs116618591" "0" "" "" "g.45504408G>A" "" "likely benign" "" "0000669696" "3" "30" "21" "46930092" "46930092" "subst" "0.0127406" "03575" "COL18A1_000129" "g.46930092G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs144147445}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs144147445" "0" "" "" "g.45510178G>A" "" "likely benign" "" "0000669697" "3" "10" "21" "46931109" "46931109" "subst" "0.065053" "03575" "COL18A1_000139" "g.46931109G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs12483377}\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs12483377" "0" "" "" "g.45511195G>A" "" "benign" "" "0000681742" "0" "30" "21" "46876560" "46876560" "subst" "0" "01943" "COL18A1_000262" "g.46876560G>A" "" "" "" "COL18A1(NM_130444.3):c.1116G>A (p.A372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681743" "0" "30" "21" "46876713" "46876713" "subst" "0" "01943" "COL18A1_000263" "g.46876713G>C" "" "" "" "COL18A1(NM_130444.3):c.1269G>C (p.L423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681744" "0" "50" "21" "46888393" "46888393" "subst" "4.46955E-5" "01943" "COL18A1_000264" "g.46888393C>T" "" "" "" "COL18A1(NM_130445.2):c.344C>T (p.A115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681745" "0" "30" "21" "46898267" "46898267" "subst" "5.68546E-5" "01943" "COL18A1_000265" "g.46898267G>A" "" "" "" "COL18A1(NM_001379500.1):c.1248G>A (p.(Pro416Pro)), COL18A1(NM_130444.3):c.2493G>A (p.P831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681746" "0" "30" "21" "46913119" "46913119" "subst" "0" "01943" "COL18A1_000206" "g.46913119C>G" "" "" "" "COL18A1(NM_130444.3):c.3502C>G (p.R1168G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681747" "0" "50" "21" "46925094" "46925094" "subst" "0" "01943" "COL18A1_000266" "g.46925094C>A" "" "" "" "COL18A1(NM_130444.3):c.4160C>A (p.P1387H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681748" "0" "30" "21" "46929400" "46929400" "subst" "4.26554E-5" "01804" "COL18A1_000252" "g.46929400G>A" "" "" "" "COL18A1(NM_030582.3):c.3920G>A (p.(Arg1304His)), COL18A1(NM_130444.3):c.4625G>A (p.G1542E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681749" "0" "50" "21" "46931074" "46931074" "subst" "5.82442E-5" "01943" "COL18A1_000267" "g.46931074G>A" "" "" "" "COL18A1(NM_130444.3):c.4988G>A (p.R1663K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685162" "0" "90" "21" "46888478" "46888478" "dup" "0" "00004" "COL18A1_000268" "g.46888478dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000693069" "0" "30" "21" "46876568" "46876568" "dup" "0" "01943" "COL18A1_000269" "g.46876568dup" "" "" "" "COL18A1(NM_130444.3):c.1124dupG (p.L376Pfs*101)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693070" "0" "30" "21" "46888199" "46888199" "subst" "1.22842E-5" "01943" "COL18A1_000270" "g.46888199C>T" "" "" "" "COL18A1(NM_130444.3):c.1395C>T (p.D465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693071" "0" "30" "21" "46896377" "46896377" "subst" "0.000156291" "01943" "COL18A1_000271" "g.46896377C>T" "" "" "" "COL18A1(NM_130444.3):c.2156C>T (p.T719M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693072" "0" "90" "21" "46917565" "46917565" "dup" "0" "01943" "COL18A1_000272" "g.46917565dup" "" "" "" "COL18A1(NM_001379500.1):c.2673dup (p.(Gly892fs)), COL18A1(NM_001379500.1):c.2673dupC (p.G892Rfs*9), COL18A1(NM_130444.3):c.3918dupC (p.G1307Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000713313" "3" "90" "21" "46930005" "46930006" "del" "0.000302834" "00000" "COL18A1_000002" "g.46930005_46930006del" "" "{PMID:Carss 2017:28041643}" "" "21:46930004CCT>C ENST00000355480.5:c.4063_4064delCT (Leu1355ValfsTer72)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713400" "0" "90" "21" "46930005" "46930006" "del" "0.000302834" "00000" "COL18A1_000002" "g.46930005_46930006del" "" "{PMID:Carss 2017:28041643}" "" "21:46930004CCT>C ENST00000355480.5:c.4063_4064delCT (Leu1355ValfsTer72)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713574" "0" "90" "21" "46914474" "46914474" "subst" "0" "00000" "COL18A1_000080" "g.46914474C>T" "" "{PMID:Carss 2017:28041643}" "" "21:46914474C>T ENST00000355480.5:c.2908C>T (Arg970Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713642" "0" "90" "21" "46908330" "46908330" "subst" "4.06355E-6" "00000" "COL18A1_000273" "g.46908330A>G" "" "{PMID:Carss 2017:28041643}" "" "21:46908330A>G ENST00000355480.5:c.2437-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713853" "0" "90" "21" "46924420" "46924427" "del" "0" "00000" "COL18A1_000275" "g.46924420_46924427del" "" "{PMID:Carss 2017:28041643}" "" "21:46924419CCCCCCCGG>C ENST00000355480.5:c.3364_3371delGGCCCCCC (Gly1122ArgfsTer142)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713886" "0" "90" "21" "46917559" "46917559" "del" "0.000116973" "00000" "COL18A1_000274" "g.46917559del" "" "{PMID:Carss 2017:28041643}" "" "21:46917558GC>G ENST00000355480.5:c.3213delC (Gly1072AspfsTer17)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000727945" "0" "90" "21" "46875517" "46875517" "del" "0" "02329" "COL18A1_000154" "g.46875517del" "" "" "" "COL18A1(NM_130444.3):c.73delC (p.L25Cfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727946" "0" "50" "21" "46888167" "46888167" "subst" "6.58084E-5" "01943" "COL18A1_000276" "g.46888167G>A" "" "" "" "COL18A1(NM_030582.4):c.658G>A (p.E220K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727947" "0" "30" "21" "46888310" "46888310" "subst" "8.12295E-6" "01943" "COL18A1_000277" "g.46888310C>G" "" "" "" "COL18A1(NM_130444.3):c.1506C>G (p.L502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727948" "0" "50" "21" "46888653" "46888653" "subst" "0.000769692" "01943" "COL18A1_000019" "g.46888653G>A" "" "" "" "COL18A1(NM_130444.3):c.1849G>A (p.G617R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727949" "0" "50" "21" "46895411" "46895411" "subst" "2.15115E-5" "01943" "COL18A1_000278" "g.46895411G>A" "" "" "" "COL18A1(NM_130444.3):c.2005G>A (p.G669R), COL18A1(NM_130445.2):c.760G>A (p.(Gly254Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727950" "0" "30" "21" "46896363" "46896363" "subst" "7.41919E-5" "01943" "COL18A1_000279" "g.46896363C>T" "" "" "" "COL18A1(NM_030582.4):c.1437C>T (p.V479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727951" "0" "30" "21" "46912455" "46912455" "subst" "4.06326E-5" "01943" "COL18A1_000280" "g.46912455G>A" "" "" "" "COL18A1(NM_130444.3):c.3409G>A (p.V1137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727952" "0" "30" "21" "46924374" "46924374" "subst" "8.89092E-5" "01943" "COL18A1_000281" "g.46924374G>A" "" "" "" "COL18A1(NM_130444.3):c.4017G>A (p.R1339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727953" "0" "50" "21" "46925108" "46925108" "subst" "5.90893E-5" "01943" "COL18A1_000282" "g.46925108G>A" "" "" "" "COL18A1(NM_130444.3):c.4174G>A (p.D1392N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727954" "0" "30" "21" "46929284" "46929284" "subst" "0.00045329" "01943" "COL18A1_000283" "g.46929284C>T" "" "" "" "COL18A1(NM_130445.2):c.3255C>T (p.A1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727955" "0" "50" "21" "46930128" "46930128" "subst" "0" "01943" "COL18A1_000284" "g.46930128A>G" "" "" "" "COL18A1(NM_130444.3):c.4891A>G (p.S1631G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727956" "0" "50" "21" "46931121" "46931121" "subst" "0.000121979" "01943" "COL18A1_000285" "g.46931121G>A" "" "" "" "COL18A1(NM_030582.4):c.4321G>A (p.V1441I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727957" "0" "30" "21" "46932092" "46932092" "subst" "0.000170596" "01943" "COL18A1_000286" "g.46932092C>T" "" "" "" "COL18A1(NM_130445.2):c.3801-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000794746" "3" "90" "21" "46924345" "46924345" "subst" "0" "00000" "COL18A1_000287" "g.46924345C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_130445.2:c.2743C>T; p.(Arg915*)" "published as other transcript - NM_130445.2" "Germline" "yes" "" "0" "" "" "g.45504431C>T" "" "pathogenic (recessive)" "ACMG" "0000809420" "0" "30" "21" "46875565" "46875565" "subst" "6.49994E-5" "01943" "COL18A1_000288" "g.46875565G>A" "" "" "" "COL18A1(NM_130444.3):c.121G>A (p.A41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809421" "0" "50" "21" "46875643" "46875643" "dup" "0" "01943" "COL18A1_000289" "g.46875643dup" "" "" "" "COL18A1(NM_130444.3):c.199dupC (p.R67Pfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809422" "0" "30" "21" "46875644" "46875644" "subst" "4.47053E-5" "01943" "COL18A1_000290" "g.46875644G>A" "" "" "" "COL18A1(NM_030582.3):c.200G>A (p.(Arg67Gln)), COL18A1(NM_130444.3):c.200G>A (p.R67Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809423" "0" "50" "21" "46875769" "46875769" "subst" "8.18773E-6" "01943" "COL18A1_000291" "g.46875769G>A" "" "" "" "COL18A1(NM_130444.3):c.325G>A (p.G109S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809424" "0" "30" "21" "46875793" "46875793" "subst" "4.5199E-5" "01943" "COL18A1_000292" "g.46875793G>A" "" "" "" "COL18A1(NM_130444.3):c.349G>A (p.V117M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809425" "0" "10" "21" "46876004" "46876004" "subst" "0.00864101" "02329" "COL18A1_000164" "g.46876004C>T" "" "" "" "COL18A1(NM_030582.4):c.560C>T (p.T187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809426" "0" "30" "21" "46876321" "46876321" "subst" "0" "01943" "COL18A1_000293" "g.46876321G>A" "" "" "" "COL18A1(NM_030582.4):c.646+231G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809427" "0" "30" "21" "46897861" "46897861" "subst" "0.000242788" "01943" "COL18A1_000294" "g.46897861T>C" "" "" "" "COL18A1(NM_030582.4):c.1743T>C (p.P581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809428" "0" "30" "21" "46900700" "46900700" "subst" "4.1521E-5" "01943" "COL18A1_000295" "g.46900700C>T" "" "" "" "COL18A1(NM_130444.3):c.2784C>T (p.S928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809429" "0" "50" "21" "46900749" "46900749" "subst" "8.38139E-6" "01943" "COL18A1_000296" "g.46900749C>T" "" "" "" "COL18A1(NM_130444.3):c.2833C>T (p.P945S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809430" "0" "30" "21" "46907378" "46907378" "subst" "0.000101841" "01943" "COL18A1_000297" "g.46907378C>T" "" "" "" "COL18A1(NM_130445.2):c.1851C>T (p.S617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809431" "0" "50" "21" "46925824" "46925824" "subst" "4.89588E-5" "01943" "COL18A1_000298" "g.46925824G>A" "" "" "" "COL18A1(NM_001379500.1):c.3160G>A (p.V1054M), COL18A1(NM_130444.3):c.4405G>A (p.E1469K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809432" "0" "50" "21" "46929361" "46929361" "subst" "1.5506E-5" "01943" "COL18A1_000299" "g.46929361G>C" "" "" "" "COL18A1(NM_130445.2):c.3332G>C (p.R1111P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809433" "0" "30" "21" "46929974" "46929974" "subst" "0.000176441" "01943" "COL18A1_000228" "g.46929974G>A" "" "" "" "COL18A1(NM_130444.3):c.4741-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809434" "0" "50" "21" "46931088" "46931088" "subst" "0" "01943" "COL18A1_000300" "g.46931088G>A" "" "" "" "COL18A1(NM_130444.3):c.5002G>A (p.V1668I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809435" "0" "10" "21" "46931109" "46931109" "subst" "0.065053" "02329" "COL18A1_000139" "g.46931109G>A" "" "" "" "COL18A1(NM_001379500.1):c.3778G>A (p.(Asp1260Asn)), COL18A1(NM_030582.4):c.4309G>A (p.D1437N), COL18A1(NM_130444.3):c.5023G>A (p.D1675N), COL18A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809436" "0" "10" "21" "46932082" "46932082" "subst" "0.00212838" "02329" "COL18A1_000141" "g.46932082C>T" "" "" "" "COL18A1(NM_030582.4):c.4341-20C>T, COL18A1(NM_130445.2):c.3801-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000811406" "3" "70" "21" "46911189" "46911189" "dup" "0" "00000" "COL18A1_000202" "g.46911189dup" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.2118dup (p.Gly707Argfs*23), Allele 2 c.2118dup (p.Gly707Argfs*23)" "different transcript: NM_130445.3(COL18A1): c.2118dup (p.Gly707Argfs*23), 3" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45491275dup" "" "likely pathogenic" "" "0000811407" "3" "70" "21" "46930014" "46930015" "del" "0" "00000" "COL18A1_000002" "g.46930014_46930015del" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.3523_3524del (p.Leu1175Valfs*72), Allele 2 c.3523_3524del (p.Leu1175Valfs*72)" "different transcript: NM_130445.3(COL18A1): c.3523_3524del (p.Leu1175Valfs*72), 3" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45510100_45510101del" "" "likely pathogenic" "" "0000817658" "1" "70" "21" "46925161" "46925161" "del" "0" "00000" "COL18A1_000301" "g.46925161del" "" "{PMID:Zanolli 2020:32141364}" "" "COL18A1 c.3513delG; c.3627+9_3627+10delCT" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.45505247del" "" "likely pathogenic" "" "0000817659" "2" "70" "21" "46925354" "46925355" "del" "0" "00000" "COL18A1_000110" "g.46925354_46925355del" "" "{PMID:Zanolli 2020:32141364}" "" "COL18A1 c.3513delG; c.3627+9_3627+10delCT" "most probably different transcript, ENST00000355480.9(COL18A1):c.3627+9_3627+10del, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.45505440_45505441del" "" "likely pathogenic" "" "0000821226" "3" "70" "21" "46930005" "46930006" "del" "0.000302834" "00000" "COL18A1_000002" "g.46930005_46930006del" "" "{PMID:Turro 2020:32581362}" "" "COL18A1 c.4063_4064delCT, p.Leu1355ValfsTer72" "homozygous, different transcript: ENST00000355480.9(COL18A1):c.4063_4064delCT, p.Leu1355ValfsTer72" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45510091_45510092del" "" "likely pathogenic" "" "0000821227" "0" "70" "21" "46930005" "46930006" "del" "0.000302834" "00000" "COL18A1_000002" "g.46930005_46930006del" "" "{PMID:Turro 2020:32581362}" "" "COL18A1 c.4063_4064delCT, p.Leu1355ValfsTer72" "heterozygous, different transcript: ENST00000355480.9(COL18A1):c.4063_4064delCT, p.Leu1355ValfsTer72" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45510091_45510092del" "" "likely pathogenic" "" "0000821228" "0" "70" "21" "46914474" "46914474" "subst" "0" "00000" "COL18A1_000080" "g.46914474C>T" "" "{PMID:Turro 2020:32581362}" "" "COL18A1 c.2908C>T, p.Arg970Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45494560C>T" "" "likely pathogenic" "" "0000821229" "0" "70" "21" "46908330" "46908330" "subst" "4.06355E-6" "00000" "COL18A1_000273" "g.46908330A>G" "" "{PMID:Turro 2020:32581362}" "" "COL18A1 c.2437-2A>G," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45488416A>G" "" "likely pathogenic" "" "0000821542" "0" "70" "21" "46924426" "46924433" "del" "0" "00000" "COL18A1_000303" "g.46924426_46924433del" "" "{PMID:Turro 2020:32581362}" "" "COL18A1 c.3364_3371delGGCCCCCC, p.Gly1122ArgfsTer142" "heterozygous, The displayed variants may be artefacts of aligning NM_030582.3 with genome build GRCh37: Genome position NC_000021.8:g.46924437 aligns within a 9-bp gap in transcript NM_030582.3 between positions c.3363_3364; the variant may actually be annotated as c.3363_3364insA" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45504512_45504519del" "" "likely pathogenic" "" "0000821543" "0" "70" "21" "46917565" "46917565" "del" "0" "00000" "COL18A1_000302" "g.46917565del" "" "{PMID:Turro 2020:32581362}" "" "COL18A1 c.3213delC, p.Gly1072AspfsTer17" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.45497651del" "" "likely pathogenic" "" "0000855987" "0" "50" "21" "46875623" "46875623" "subst" "0.00011374" "01943" "COL18A1_000304" "g.46875623C>T" "" "" "" "COL18A1(NM_130444.3):c.179C>T (p.T60I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855988" "0" "30" "21" "46876654" "46876654" "subst" "0" "01943" "COL18A1_000261" "g.46876654G>A" "" "" "" "COL18A1(NM_130444.3):c.1210G>A (p.A404T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855989" "0" "30" "21" "46888499" "46888499" "subst" "0.000105827" "01943" "COL18A1_000309" "g.46888499C>T" "" "" "" "COL18A1(NM_130444.3):c.1695C>T (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855990" "0" "30" "21" "46897756" "46897756" "subst" "0" "01943" "COL18A1_000310" "g.46897756G>T" "" "" "" "COL18A1(NM_030582.4):c.1638G>T (p.P546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855991" "0" "10" "21" "46902703" "46902703" "subst" "0.00304987" "02330" "COL18A1_000194" "g.46902703G>A" "" "" "" "COL18A1(NM_030582.3):c.2215-6G>A (p.(=)), COL18A1(NM_030582.4):c.2215-6G>A, COL18A1(NM_130444.3):c.2920-6G>A, COL18A1(NM_130445.2):c.1675-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855992" "0" "90" "21" "46917565" "46917565" "dup" "0" "02325" "COL18A1_000272" "g.46917565dup" "" "" "" "COL18A1(NM_001379500.1):c.2673dup (p.(Gly892fs)), COL18A1(NM_001379500.1):c.2673dupC (p.G892Rfs*9), COL18A1(NM_130444.3):c.3918dupC (p.G1307Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855993" "0" "70" "21" "46924426" "46924427" "del" "0" "01943" "COL18A1_000319" "g.46924426_46924427del" "" "" "" "COL18A1(NM_130444.3):c.4069_4077delGGCCCCCCAinsCCCCCCA (p.G1357Pfs*141)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855994" "0" "30" "21" "46924429" "46924443" "del" "0" "01943" "COL18A1_000215" "g.46924429_46924443del" "" "" "" "COL18A1(NM_130444.3):c.4072_4086delCCCCCAGGCCCCCCA (p.P1358_R1362del), COL18A1(NM_130445.2):c.2827_2832delCCCCCA (p.(Pro943_Pro944del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855995" "0" "50" "21" "46929334" "46929334" "subst" "0.000413428" "01943" "COL18A1_000320" "g.46929334G>A" "" "" "" "COL18A1(NM_130444.3):c.4559G>A (p.R1520H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855996" "0" "30" "21" "46932114" "46932114" "subst" "4.16764E-5" "01943" "COL18A1_000321" "g.46932114C>T" "" "" "" "COL18A1(NM_130444.3):c.5067C>T (p.H1689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855997" "0" "50" "21" "46932212" "46932212" "subst" "0.000306413" "01943" "COL18A1_000322" "g.46932212C>T" "" "" "" "COL18A1(NM_130444.3):c.5165C>T (p.A1722V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866655" "0" "30" "21" "46876274" "46876274" "subst" "0" "01943" "COL18A1_000305" "g.46876274C>A" "" "" "" "COL18A1(NM_130444.3):c.830C>A (p.A277D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866656" "0" "10" "21" "46876437" "46876437" "subst" "0" "02330" "COL18A1_000306" "g.46876437C>T" "" "" "" "COL18A1(NM_130444.3):c.993C>T (p.A331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866657" "0" "30" "21" "46876580" "46876580" "subst" "0" "01943" "COL18A1_000307" "g.46876580C>G" "" "" "" "COL18A1(NM_130444.3):c.1136C>G (p.T379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866658" "0" "50" "21" "46888247" "46888247" "subst" "0" "01943" "COL18A1_000308" "g.46888247G>C" "" "" "" "COL18A1(NM_130444.3):c.1443G>C (p.L481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866659" "0" "30" "21" "46899813" "46899813" "subst" "4.07305E-6" "01943" "COL18A1_000311" "g.46899813C>T" "" "" "" "COL18A1(NM_130445.2):c.1249-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866660" "0" "30" "21" "46900386" "46900386" "subst" "4.06243E-6" "01943" "COL18A1_000312" "g.46900386C>T" "" "" "" "COL18A1(NM_130445.2):c.1404C>T (p.F468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866661" "0" "30" "21" "46900611" "46900611" "subst" "0" "01943" "COL18A1_000313" "g.46900611C>T" "" "" "" "COL18A1(NM_130444.3):c.2698-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866662" "0" "50" "21" "46900710" "46900710" "subst" "4.57263E-5" "01943" "COL18A1_000314" "g.46900710G>A" "" "" "" "COL18A1(NM_130444.3):c.2794G>A (p.G932R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866663" "0" "50" "21" "46907379" "46907379" "subst" "1.62962E-5" "01943" "COL18A1_000315" "g.46907379G>A" "" "" "" "COL18A1(NM_130444.3):c.3097G>A (p.G1033R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866664" "0" "50" "21" "46916415" "46916415" "subst" "0.000192618" "01943" "COL18A1_000316" "g.46916415G>C" "" "" "" "COL18A1(NM_030582.4):c.3050G>C (p.G1017A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866665" "0" "30" "21" "46924392" "46924392" "subst" "0.000502914" "01943" "COL18A1_000317" "g.46924392C>T" "" "" "" "COL18A1(NM_130445.2):c.2790C>T (p.G930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866666" "0" "30" "21" "46924423" "46924423" "subst" "0" "02327" "COL18A1_000318" "g.46924423C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895522" "0" "50" "21" "46897375" "46897375" "subst" "9.53842E-5" "02327" "COL18A1_000184" "g.46897375C>T" "" "" "" "COL18A1(NM_130444.3):c.2224C>T (p.R742W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895523" "0" "30" "21" "46897879" "46897879" "subst" "0.000112987" "02325" "COL18A1_000323" "g.46897879G>A" "" "" "" "COL18A1(NM_001379500.1):c.1221G>A (p.P407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895524" "0" "50" "21" "46902721" "46902721" "subst" "0.000393918" "02327" "COL18A1_000195" "g.46902721G>A" "" "" "" "COL18A1(NM_130444.3):c.2932G>A (p.A978T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895525" "0" "50" "21" "46927476" "46927476" "subst" "1.2274E-5" "02329" "COL18A1_000324" "g.46927476T>C" "" "" "" "COL18A1(NM_130444.3):c.4463T>C (p.L1488P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895526" "0" "50" "21" "46930004" "46930006" "del" "0" "02329" "COL18A1_000325" "g.46930004_46930006del" "" "" "" "COL18A1(NM_130444.3):c.4767_4769delCCT (p.G1590del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895527" "0" "50" "21" "46930021" "46930021" "subst" "0.00155788" "02327" "COL18A1_000126" "g.46930021G>A" "" "" "" "COL18A1(NM_130444.3):c.4784G>A (p.R1595H), COL18A1(NM_130445.2):c.3530G>A (p.R1177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915466" "0" "10" "21" "46875982" "46875982" "subst" "0.00728035" "02329" "COL18A1_000162" "g.46875982G>A" "" "" "" "COL18A1(NM_030582.3):c.538G>A (p.(Ala180Thr)), COL18A1(NM_030582.4):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915467" "0" "10" "21" "46929529" "46929529" "subst" "0.00422835" "02329" "COL18A1_000122" "g.46929529C>G" "" "" "" "COL18A1(NM_030582.4):c.4026+14C>G, COL18A1(NM_130444.3):c.4740+14C>G, COL18A1(NM_130445.2):c.3486+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927098" "0" "30" "21" "46908340" "46908340" "subst" "0.000780386" "02330" "COL18A1_000199" "g.46908340C>T" "" "" "" "COL18A1(NM_130444.3):c.3150C>T (p.P1050=), COL18A1(NM_130445.2):c.1905C>T (p.P635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927099" "0" "30" "21" "46911242" "46911242" "subst" "0.00253045" "02330" "COL18A1_000326" "g.46911242G>A" "" "" "" "COL18A1(NM_130444.3):c.3402+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927100" "0" "70" "21" "46924425" "46924443" "del" "0" "02327" "COL18A1_000327" "g.46924425_46924443del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951519" "0" "50" "21" "46925127" "46925127" "subst" "0.000993853" "02325" "COL18A1_000101" "g.46925127G>A" "" "" "" "COL18A1(NM_001379500.1):c.2948G>A (p.(Arg1163His), p.R983H), COL18A1(NM_030582.4):c.3479G>A (p.R1160H), COL18A1(NM_130444.3):c.4193G>A (p.R1398H), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951520" "0" "30" "21" "46930021" "46930021" "subst" "0.00155788" "02330" "COL18A1_000126" "g.46930021G>A" "" "" "" "COL18A1(NM_130444.3):c.4784G>A (p.R1595H), COL18A1(NM_130445.2):c.3530G>A (p.R1177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951521" "0" "10" "21" "46932115" "46932115" "subst" "0.00656853" "02329" "COL18A1_000143" "g.46932115G>T" "" "" "" "COL18A1(NM_030582.3):c.4363G>T (p.(Val1455Leu)), COL18A1(NM_030582.4):c.4354G>T (p.V1452L), COL18A1(NM_130445.2):c.3814G>T (p.V1272L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000958269" "3" "90" "21" "46930005" "46930006" "del" "0.000302834" "00006" "COL18A1_000002" "g.46930005_46930006del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.45510091_45510092del" "65410" "pathogenic (recessive)" "ACMG" "0000958484" "0" "90" "21" "46917558" "46917558" "dup" "0" "00006" "COL18A1_000329" "g.46917558dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.45497644dup" "" "pathogenic (recessive)" "ACMG" "0000958911" "0" "50" "21" "46908330" "46908330" "subst" "4.06355E-6" "00006" "COL18A1_000273" "g.46908330A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE" "Germline" "" "" "0" "" "" "g.45488416A>G" "" "VUS" "ACMG" "0000958914" "0" "90" "21" "46930005" "46930006" "del" "0.000302834" "00006" "COL18A1_000002" "g.46930005_46930006del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.45510091_45510092del" "" "pathogenic (recessive)" "ACMG" "0000959345" "0" "70" "21" "46925140" "46928676" "del" "0" "00006" "COL18A1_000330" "g.46925140_46928676del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.45505226_45508762del" "" "likely pathogenic (recessive)" "ACMG" "0000959351" "0" "50" "21" "46931104" "46931106" "del" "0" "00006" "COL18A1_000331" "g.46931104_46931106del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.45511190_45511192del" "" "VUS" "ACMG" "0000959354" "0" "70" "21" "46875928" "46875928" "del" "0" "00006" "COL18A1_000328" "g.46875928del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.45456014del" "" "likely pathogenic (recessive)" "ACMG" "0000970324" "0" "30" "21" "46888661" "46888661" "subst" "0.00147924" "01943" "COL18A1_000178" "g.46888661C>T" "" "" "" "COL18A1(NM_030582.4):c.1152C>T (p.F384=), COL18A1(NM_130444.3):c.1857C>T (p.F619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970326" "0" "30" "21" "46902703" "46902703" "subst" "0.00304987" "01943" "COL18A1_000194" "g.46902703G>A" "" "" "" "COL18A1(NM_030582.3):c.2215-6G>A (p.(=)), COL18A1(NM_030582.4):c.2215-6G>A, COL18A1(NM_130444.3):c.2920-6G>A, COL18A1(NM_130445.2):c.1675-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970327" "0" "30" "21" "46912464" "46912464" "subst" "0.00204385" "01943" "COL18A1_000204" "g.46912464G>A" "" "" "" "COL18A1(NM_030582.3):c.2713G>A (p.(Val905Met)), COL18A1(NM_030582.4):c.2713G>A (p.V905M), COL18A1(NM_130444.3):c.3418G>A (p.V1140M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970328" "0" "90" "21" "46916463" "46916463" "dup" "0" "02325" "COL18A1_000332" "g.46916463dup" "" "" "" "COL18A1(NM_001379500.1):c.2558dupC (p.P854Sfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970329" "0" "50" "21" "46925127" "46925127" "subst" "0.000993853" "01943" "COL18A1_000101" "g.46925127G>A" "" "" "" "COL18A1(NM_001379500.1):c.2948G>A (p.(Arg1163His), p.R983H), COL18A1(NM_030582.4):c.3479G>A (p.R1160H), COL18A1(NM_130444.3):c.4193G>A (p.R1398H), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970330" "0" "70" "21" "46925346" "46925346" "subst" "0" "02327" "COL18A1_000333" "g.46925346G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984020" "0" "30" "21" "46875802" "46875802" "subst" "8.22774E-6" "01804" "COL18A1_000334" "g.46875802G>A" "" "" "" "COL18A1(NM_130444.3):c.358G>A (p.(Gly120Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984021" "0" "50" "21" "46876570" "46876570" "del" "0" "01804" "COL18A1_000335" "g.46876570del" "" "" "" "COL18A1(NM_130444.3):c.1126del (p.(Leu376fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984022" "0" "50" "21" "46876677" "46876677" "subst" "0" "01804" "COL18A1_000173" "g.46876677C>A" "" "" "" "COL18A1(NM_130444.3):c.1233C>A (p.F411L, p.(Phe411Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984024" "0" "50" "21" "46888626" "46888626" "subst" "3.69101E-5" "01804" "COL18A1_000336" "g.46888626C>T" "" "" "" "COL18A1(NM_001379500.1):c.577C>T (p.(Arg193Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984025" "0" "50" "21" "46888674" "46888674" "subst" "9.9067E-5" "01804" "COL18A1_000337" "g.46888674G>A" "" "" "" "COL18A1(NM_001379500.1):c.625G>A (p.(Gly209Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984026" "0" "50" "21" "46893850" "46893850" "subst" "0.00097994" "01804" "COL18A1_000026" "g.46893850G>A" "" "" "" "COL18A1(NM_001379500.1):c.693G>A (p.(Val231Val)), COL18A1(NM_130444.3):c.1938G>A (p.V646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984027" "0" "50" "21" "46900615" "46900615" "subst" "8.27458E-6" "01804" "COL18A1_000338" "g.46900615G>T" "" "" "" "COL18A1(NM_001379500.1):c.1454G>T (p.(Gly485Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984028" "0" "50" "21" "46900644" "46900644" "subst" "6.64943E-5" "01804" "COL18A1_000339" "g.46900644C>T" "" "" "" "COL18A1(NM_001379500.1):c.1483C>T (p.(Pro495Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984029" "0" "30" "21" "46902702" "46902702" "subst" "0.000125897" "01804" "COL18A1_000193" "g.46902702C>T" "" "" "" "COL18A1(NM_001379500.1):c.1675-7C>T, COL18A1(NM_030582.4):c.2215-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984030" "0" "30" "21" "46906780" "46906780" "subst" "0.000873165" "01804" "COL18A1_000056" "g.46906780C>T" "" "" "" "COL18A1(NM_001379500.1):c.1707C>T (p.(Ser569Ser)), COL18A1(NM_030582.4):c.2247C>T (p.S749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984031" "0" "30" "21" "46911132" "46911132" "subst" "0.000363943" "01804" "COL18A1_000071" "g.46911132C>T" "" "" "" "COL18A1(NM_001379500.1):c.2068-7C>T, COL18A1(NM_130445.2):c.2068-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984032" "0" "10" "21" "46912609" "46912609" "subst" "0.00231007" "01804" "COL18A1_000076" "g.46912609G>A" "" "" "" "COL18A1(NM_001379500.1):c.2196G>A (p.(Pro732=)), COL18A1(NM_130445.2):c.2196G>A (p.P732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984033" "0" "50" "21" "46917566" "46917566" "subst" "0" "01804" "COL18A1_000340" "g.46917566G>A" "" "" "" "COL18A1(NM_001379500.1):c.2674G>A (p.(Gly892Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984034" "0" "50" "21" "46925126" "46925126" "subst" "0.000396617" "01804" "COL18A1_000100" "g.46925126C>T" "" "" "" "COL18A1(NM_001379500.1):c.2947C>T (p.(Arg983Cys)), COL18A1(NM_130444.3):c.4192C>T (p.P1398S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984035" "0" "50" "21" "46925311" "46925311" "dup" "0" "01804" "COL18A1_000341" "g.46925311dup" "" "" "" "COL18A1(NM_001379500.1):c.3053dup (p.(Gly1019fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984036" "0" "50" "21" "46930062" "46930062" "subst" "0.00013008" "01804" "COL18A1_000342" "g.46930062C>T" "" "" "" "COL18A1(NM_001379500.1):c.3580C>T (p.(Arg1194Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987674" "3" "70" "21" "46906858" "46906859" "delins" "0" "04543" "COL18A1_000343" "g.46906858_46906859delinsG" "" "{PMID:Basharat 2024:38815792}" "" "NM_130445.2:c.1785_1786delinsG (Pro597Leufs*127)" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.45486944_45486945delinsG" "" "likely pathogenic (recessive)" "ACMG" "0000987675" "3" "70" "21" "46906858" "46906859" "delins" "0" "04543" "COL18A1_000343" "g.46906858_46906859delinsG" "" "{PMID:Basharat 2024:38815792}" "" "NM_130445.2:c.1785_1786delinsG (Pro597Leufs*127)" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.45486944_45486945delinsG" "" "likely pathogenic (recessive)" "ACMG" "0000987676" "3" "70" "21" "46906858" "46906859" "delins" "0" "04543" "COL18A1_000343" "g.46906858_46906859delinsG" "" "{PMID:Basharat 2024:38815792}" "" "NM_130445.2:c.1785_1786delinsG (Pro597Leufs*127)" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.45486944_45486945delinsG" "" "likely pathogenic (recessive)" "ACMG" "0000987677" "3" "70" "21" "46906858" "46906859" "delins" "0" "04543" "COL18A1_000343" "g.46906858_46906859delinsG" "" "{PMID:Basharat 2024:38815792}" "" "NM_130445.2:c.1785_1786delinsG (Pro597Leufs*127)" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.45486944_45486945delinsG" "" "likely pathogenic (recessive)" "ACMG" "0001005797" "0" "30" "21" "46875509" "46875509" "subst" "1.21942E-5" "01804" "COL18A1_000344" "g.46875509G>A" "" "" "" "COL18A1(NM_030582.3):c.65G>A (p.(Arg22Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005798" "0" "30" "21" "46875644" "46875644" "subst" "4.47053E-5" "01804" "COL18A1_000290" "g.46875644G>A" "" "" "" "COL18A1(NM_030582.3):c.200G>A (p.(Arg67Gln)), COL18A1(NM_130444.3):c.200G>A (p.R67Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005799" "0" "50" "21" "46888579" "46888579" "subst" "0" "01804" "COL18A1_000345" "g.46888579A>G" "" "" "" "COL18A1(NM_130445.2):c.530A>G (p.(Tyr177Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005800" "0" "30" "21" "46888596" "46888596" "subst" "4.07352E-5" "01804" "COL18A1_000346" "g.46888596T>C" "" "" "" "COL18A1(NM_130445.2):c.547T>C (p.(Phe183Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005801" "0" "30" "21" "46895411" "46895411" "subst" "2.15115E-5" "01804" "COL18A1_000278" "g.46895411G>A" "" "" "" "COL18A1(NM_130444.3):c.2005G>A (p.G669R), COL18A1(NM_130445.2):c.760G>A (p.(Gly254Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005802" "0" "30" "21" "46896269" "46896269" "subst" "0" "01804" "COL18A1_000347" "g.46896269C>A" "" "" "" "COL18A1(NM_130445.2):c.803C>A (p.(Ala268Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005803" "0" "50" "21" "46911184" "46911184" "subst" "4.12517E-6" "01804" "COL18A1_000348" "g.46911184C>A" "" "" "" "COL18A1(NM_001379500.1):c.2113C>A (p.(Pro705Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005804" "0" "30" "21" "46915302" "46915302" "subst" "1.66001E-5" "01804" "COL18A1_000349" "g.46915302G>C" "" "" "" "COL18A1(NM_130445.2):c.2464G>C (p.(Glu822Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005805" "0" "50" "21" "46916474" "46916474" "subst" "2.45567E-5" "02325" "COL18A1_000350" "g.46916474G>A" "" "" "" "COL18A1(NM_001379500.1):c.2569G>A (p.D857N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005806" "0" "50" "21" "46924345" "46924345" "subst" "0" "01804" "COL18A1_000287" "g.46924345C>T" "" "" "" "COL18A1(NM_130445.2):c.2743C>T (p.(Arg915*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005807" "0" "50" "21" "46924358" "46924358" "subst" "1.25336E-5" "02325" "COL18A1_000212" "g.46924358G>C" "" "" "" "COL18A1(NM_001379500.1):c.2756G>C (p.G919A), COL18A1(NM_030582.3):c.3296G>C (p.(Gly1099Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005808" "0" "10" "21" "46924425" "46924433" "del" "0" "02325" "COL18A1_000003" "g.46924425_46924433del" "" "" "" "COL18A1(NM_001379500.1):c.2823_2831delCGGCCCCCC (p.P947_P949del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005809" "0" "30" "21" "46924425" "46924434" "del" "0" "01804" "COL18A1_000351" "g.46924425_46924434del" "" "" "" "COL18A1(NM_130445.2):c.2823delC (p.(Gly942fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005810" "0" "30" "21" "46924428" "46924444" "del" "0" "01804" "COL18A1_000352" "g.46924428_46924444del" "" "" "" "COL18A1(NM_130445.2):c.2826_2833delCCCCCCAG (p.(Gly945fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005811" "0" "30" "21" "46924429" "46924443" "del" "0" "01804" "COL18A1_000215" "g.46924429_46924443del" "" "" "" "COL18A1(NM_130444.3):c.4072_4086delCCCCCAGGCCCCCCA (p.P1358_R1362del), COL18A1(NM_130445.2):c.2827_2832delCCCCCA (p.(Pro943_Pro944del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005812" "0" "70" "21" "46925320" "46925320" "dup" "0" "01804" "COL18A1_000353" "g.46925320dup" "" "" "" "COL18A1(NM_130445.2):c.3053dupC (p.(Gly1019fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005813" "0" "30" "21" "46925851" "46925851" "subst" "0.00037529" "02330" "COL18A1_000354" "g.46925851C>T" "" "" "" "COL18A1(NM_130444.3):c.4432C>T (p.H1478Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005814" "0" "30" "21" "46929973" "46929973" "subst" "0.00132684" "02330" "COL18A1_000123" "g.46929973C>T" "" "" "" "COL18A1(NM_130444.3):c.4741-5C>T, COL18A1(NM_130445.2):c.3487-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015900" "0" "50" "21" "46875803" "46875803" "subst" "8.22883E-6" "02325" "COL18A1_000355" "g.46875803G>A" "" "" "" "COL18A1(NM_001379500.1):c.107-12353G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015901" "0" "10" "21" "46896303" "46896303" "subst" "0.146888" "02329" "COL18A1_000182" "g.46896303C>G" "" "" "" "COL18A1(NM_001379500.1):c.837C>G (p.P279=), COL18A1(NM_130445.2):c.837C>G (p.P279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015902" "0" "70" "21" "46914484" "46914484" "dup" "0" "02325" "COL18A1_000356" "g.46914484dup" "" "" "" "COL18A1(NM_001379500.1):c.2378dupC (p.P795Sfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015903" "0" "50" "21" "46925830" "46925830" "subst" "2.03977E-5" "02325" "COL18A1_000357" "g.46925830G>A" "" "" "" "COL18A1(NM_001379500.1):c.3166G>A (p.E1056K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027347" "0" "10" "21" "46925157" "46925158" "ins" "0.0176618" "02329" "COL18A1_000247" "g.46925157_46925158insCGGCCCCCC" "" "" "" "COL18A1(NM_001379500.1):c.2978_2979insCGGCCCCCC (p.G994_P996dup), COL18A1(NM_030582.3):c.3510_3511insGGCCCCCCC (p.(Gly1171_Pro1173dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043636" "0" "30" "21" "46875643" "46875643" "del" "0" "01804" "COL18A1_000358" "g.46875643del" "" "" "" "COL18A1(NM_130444.3):c.199del (p.(Arg67fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043637" "0" "30" "21" "46898267" "46898267" "subst" "5.68546E-5" "01804" "COL18A1_000265" "g.46898267G>A" "" "" "" "COL18A1(NM_001379500.1):c.1248G>A (p.(Pro416Pro)), COL18A1(NM_130444.3):c.2493G>A (p.P831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043638" "0" "30" "21" "46900782" "46900782" "subst" "2.14258E-5" "01804" "COL18A1_000359" "g.46900782G>A" "" "" "" "COL18A1(NM_001379500.1):c.1611+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043639" "0" "50" "21" "46901893" "46901893" "subst" "0.00011117" "01804" "COL18A1_000360" "g.46901893C>T" "" "" "" "COL18A1(NM_001379500.1):c.1628C>T (p.(Pro543Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043640" "0" "30" "21" "46914485" "46914485" "subst" "6.10655E-5" "01804" "COL18A1_000361" "g.46914485G>A" "" "" "" "COL18A1(NM_130444.3):c.3624G>A (p.(Pro1208Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043641" "0" "50" "21" "46917558" "46917558" "subst" "0" "01804" "COL18A1_000362" "g.46917558G>C" "" "" "" "COL18A1(NM_001379500.1):c.2666G>C (p.(Gly889Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043642" "0" "30" "21" "46925039" "46925039" "subst" "5.63107E-5" "01804" "COL18A1_000363" "g.46925039C>T" "" "" "" "COL18A1(NM_001379500.1):c.2869-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043643" "0" "50" "21" "46925141" "46925141" "subst" "9.08207E-6" "01804" "COL18A1_000105" "g.46925141G>A" "" "" "" "COL18A1(NM_001379500.1):c.2962G>A (p.(Gly988Ser)), COL18A1(NM_130445.2):c.2953G>A (p.G985S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043644" "0" "50" "21" "46925824" "46925824" "subst" "4.89588E-5" "02325" "COL18A1_000298" "g.46925824G>A" "" "" "" "COL18A1(NM_001379500.1):c.3160G>A (p.V1054M), COL18A1(NM_130444.3):c.4405G>A (p.E1469K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043645" "0" "90" "21" "46930005" "46930006" "del" "0.000302834" "01804" "COL18A1_000002" "g.46930005_46930006del" "" "" "" "COL18A1(NM_001379500.1):c.3523_3524del (p.(Leu1175fs)), COL18A1(NM_001379500.1):c.3523_3524delCT (p.L1175Vfs*72), COL18A1(NM_130445.2):c.3514_3515d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043646" "0" "90" "21" "46930005" "46930006" "del" "0.000302834" "02325" "COL18A1_000002" "g.46930005_46930006del" "" "" "" "COL18A1(NM_001379500.1):c.3523_3524del (p.(Leu1175fs)), COL18A1(NM_001379500.1):c.3523_3524delCT (p.L1175Vfs*72), COL18A1(NM_130445.2):c.3514_3515d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043647" "0" "50" "21" "46930090" "46930090" "subst" "2.45262E-5" "01804" "COL18A1_000364" "g.46930090G>A" "" "" "" "COL18A1(NM_001379500.1):c.3608G>A (p.(Arg1203His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057033" "0" "90" "21" "46917565" "46917565" "dup" "0" "01804" "COL18A1_000272" "g.46917565dup" "" "" "" "COL18A1(NM_001379500.1):c.2673dup (p.(Gly892fs)), COL18A1(NM_001379500.1):c.2673dupC (p.G892Rfs*9), COL18A1(NM_130444.3):c.3918dupC (p.G1307Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001057034" "0" "50" "21" "46930108" "46930108" "subst" "0" "01804" "COL18A1_000365" "g.46930108G>A" "" "" "" "COL18A1(NM_001379500.1):c.3626G>A (p.(Arg1209His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057035" "0" "30" "21" "46931109" "46931109" "subst" "0.065053" "01804" "COL18A1_000139" "g.46931109G>A" "" "" "" "COL18A1(NM_001379500.1):c.3778G>A (p.(Asp1260Asn)), COL18A1(NM_030582.4):c.4309G>A (p.D1437N), COL18A1(NM_130444.3):c.5023G>A (p.D1675N), COL18A1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058200" "1" "90" "21" "46900410" "46900410" "dup" "0" "00006" "COL18A1_000366" "g.46900410dup" "" "{PMID:Wang 2024:38184101}" "" "NM_130444.3:c.2673dup" "ACMG PVS1, PM3, PM2_sup, PP4" "Germline" "" "" "0" "" "" "g.45480496dup" "" "pathogenic (recessive)" "ACMG" "0001058279" "2" "50" "21" "91198536" "91198536" "subst" "0" "00006" "COL18A1_000367" "g.91198536C>T" "" "{PMID:Wang 2024:38184101}" "" "Chr21:46906720-46957897" "" "Germline" "" "" "0" "" "" "g.89438779C>T" "" "VUS" "" "0001059385" "3" "90" "21" "0" "0" "" "" "00006" "CSTB_000023" "g.?" "" "{PMID:Retterer 2016:26633542}" "" "del ex17-25" "reference transcript not defined" "Germline" "" "" "0" "" "" "g.?" "" "pathogenic (recessive)" "" ## 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 COL18A1 ## Count = 462 "{{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}}" "0000163582" "00005493" "70" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Trp1230*)" "36" "0000163583" "00005493" "90" "4063" "0" "4064" "0" "c.4063_4064del" "r.(?)" "p.(Leu1355Valfs*72)" "39" "0000169275" "00005493" "00" "3363" "0" "3371" "0" "c.3363_3371del" "r.(?)" "p.(Pro1127_Pro1129del)" "" "0000249913" "00005493" "10" "3762" "0" "3762" "0" "c.3762A>G" "r.(?)" "p.(Thr1254=)" "" "0000253137" "00005493" "10" "3762" "0" "3762" "0" "c.3762A>G" "r.(?)" "p.(Thr1254=)" "" "0000253503" "00005493" "10" "960" "0" "960" "0" "c.960A>G" "r.(?)" "p.(Thr320=)" "" "0000253944" "00005493" "10" "2892" "28" "2892" "28" "c.2892+28A>G" "r.(=)" "p.(=)" "" "0000254269" "00005493" "30" "4059" "0" "4059" "0" "c.4059A>G" "r.(?)" "p.(Ser1353=)" "" "0000254302" "00005493" "30" "2223" "0" "2223" "0" "c.2223A>G" "r.(?)" "p.(Ala741=)" "" "0000254845" "00005493" "30" "3501" "0" "3501" "0" "c.3501A>C" "r.(?)" "p.(Pro1167=)" "" "0000255098" "00005493" "30" "171" "0" "171" "0" "c.171A>G" "r.(?)" "p.(Thr57=)" "" "0000255334" "00005493" "30" "1278" "19" "1278" "19" "c.1278+19A>C" "r.(=)" "p.(=)" "" "0000255335" "00005493" "30" "3117" "20" "3117" "20" "c.3117+20A>G" "r.(=)" "p.(=)" "" "0000264767" "00005493" "10" "2436" "19" "2436" "19" "c.2436+19C>G" "r.(=)" "p.(=)" "" "0000264768" "00005493" "10" "4309" "0" "4309" "0" "c.4309G>A" "r.(?)" "p.(Asp1437Asn)" "" "0000266921" "00005493" "10" "4576" "0" "4576" "0" "c.*16G>A" "r.(=)" "p.(=)" "" "0000266922" "00005493" "10" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(His40=)" "" "0000266923" "00005493" "10" "2460" "0" "2460" "0" "c.2460T>C" "r.(?)" "p.(Leu820=)" "" "0000266924" "00005493" "10" "3363" "0" "3364" "0" "c.3363_3364=" "r.(=)" "p.(Pro1121=)" "" "0000266925" "00005493" "10" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Ala1326=)" "" "0000266926" "00005493" "10" "4026" "14" "4026" "14" "c.4026+14del" "r.(=)" "p.(=)" "" "0000268230" "00005493" "10" "646" "490" "646" "490" "c.646+490C>T" "r.(=)" "p.(=)" "" "0000268231" "00005493" "10" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(His40=)" "" "0000268232" "00005493" "10" "2460" "0" "2460" "0" "c.2460T>C" "r.(?)" "p.(Leu820=)" "" "0000268233" "00005493" "10" "1764" "0" "1764" "0" "c.1764C>G" "r.(?)" "p.(Gly588=)" "" "0000268234" "00005493" "10" "3363" "0" "3364" "0" "c.3363_3364=" "r.(=)" "p.(Pro1121=)" "" "0000268235" "00005493" "10" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Ala1326=)" "" "0000268236" "00005493" "10" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Pro1107=)" "" "0000268237" "00005493" "10" "4026" "14" "4026" "14" "c.4026+14del" "r.(=)" "p.(=)" "" "0000268238" "00005493" "10" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Ile1404=)" "" "0000268240" "00005493" "10" "646" "83" "646" "83" "c.646+83C>T" "r.(=)" "p.(=)" "" "0000268241" "00005493" "10" "646" "216" "646" "216" "c.646+216G>A" "r.(=)" "p.(=)" "" "0000273830" "00005493" "10" "-50305" "0" "-50305" "0" "c.-50305del" "r.(?)" "p.(=)" "" "0000273831" "00005493" "30" "4575" "0" "4575" "0" "c.*15C>T" "r.(=)" "p.(=)" "" "0000273832" "00005493" "10" "4576" "0" "4576" "0" "c.*16G>A" "r.(=)" "p.(=)" "" "0000273833" "00005493" "30" "4566" "0" "4566" "0" "c.*6G>A" "r.(=)" "p.(=)" "" "0000273834" "00005493" "30" "646" "440" "646" "440" "c.646+440C>T" "r.(=)" "p.(=)" "" "0000273835" "00005493" "30" "1683" "0" "1683" "0" "c.1683G>A" "r.(?)" "p.(Ala561=)" "" "0000273836" "00005493" "30" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Val565=)" "" "0000273837" "00005493" "30" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Pro575=)" "" "0000273838" "00005493" "30" "1191" "6" "1191" "6" "c.1191+6C>G" "r.(=)" "p.(=)" "" "0000273839" "00005493" "10" "1761" "14" "1761" "14" "c.1761+14T>C" "r.(=)" "p.(=)" "" "0000273840" "00005493" "30" "1761" "20" "1761" "20" "c.1761+20dup" "r.(=)" "p.(=)" "" "0000273841" "00005493" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Met)" "" "0000273842" "00005493" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Val411=)" "" "0000273843" "00005493" "30" "1797" "0" "1797" "0" "c.1797C>T" "r.(?)" "p.(Thr599=)" "" "0000273844" "00005493" "30" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Val222=)" "" "0000273845" "00005493" "10" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Pro605=)" "" "0000273846" "00005493" "10" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Asp610=)" "" "0000273847" "00005493" "10" "1845" "0" "1845" "0" "c.1845C>A" "r.(?)" "p.(Gly615=)" "" "0000273848" "00005493" "30" "1851" "5" "1851" "5" "c.1851+5G>C" "r.spl?" "p.?" "" "0000273849" "00005493" "10" "1938" "7" "1938" "7" "c.1938+7C>G" "r.(=)" "p.(=)" "" "0000273850" "00005493" "30" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Thr471=)" "" "0000273851" "00005493" "10" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Phe656=)" "" "0000273852" "00005493" "30" "1503" "0" "1503" "0" "c.1503G>A" "r.(?)" "p.(Thr501=)" "" "0000273853" "00005493" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Gly683=)" "" "0000273854" "00005493" "30" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(Ser749=)" "" "0000273855" "00005493" "10" "2374" "-23" "2374" "-23" "c.2374-23C>A" "r.(=)" "p.(=)" "" "0000273856" "00005493" "30" "2436" "19" "2436" "19" "c.2436+19C>T" "r.(=)" "p.(=)" "" "0000273857" "00005493" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Pro818=)" "" "0000273858" "00005493" "50" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Arg406Cys)" "" "0000273859" "00005493" "10" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Val841Ile)" "" "0000273860" "00005493" "30" "2572" "-10" "2572" "-10" "c.2572-10G>A" "r.(=)" "p.(=)" "" "0000273861" "00005493" "50" "2572" "-9" "2572" "-9" "c.2572-9T>A" "r.(=)" "p.(=)" "" "0000273862" "00005493" "30" "2064" "0" "2064" "0" "c.2064T>C" "r.(?)" "p.(Phe688=)" "" "0000273863" "00005493" "10" "2608" "-24" "2608" "-24" "c.2608-24C>T" "r.(=)" "p.(=)" "" "0000273864" "00005493" "30" "2608" "-7" "2608" "-7" "c.2608-7C>T" "r.(=)" "p.(=)" "" "0000273865" "00005493" "30" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Gln879=)" "" "0000273866" "00005493" "10" "2657" "0" "2657" "0" "c.2657C>G" "r.(?)" "p.(Pro886Arg)" "" "0000273868" "00005493" "10" "2736" "0" "2736" "0" "c.2736G>A" "r.(?)" "p.(Pro912=)" "" "0000273869" "00005493" "30" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(Pro918=)" "" "0000273870" "00005493" "10" "2817" "14" "2817" "14" "c.2817+14G>T" "r.(=)" "p.(=)" "" "0000273872" "00005493" "10" "2880" "0" "2880" "0" "c.2880G>C" "r.(?)" "p.(Gln960His)" "" "0000273873" "00005493" "30" "2364" "0" "2364" "0" "c.2364C>T" "r.(?)" "p.(Pro788=)" "" "0000273874" "00005493" "90" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Ter)" "" "0000273875" "00005493" "10" "2920" "-20" "2920" "-20" "c.2920-20T>C" "r.(=)" "p.(=)" "" "0000273876" "00005493" "30" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Tyr976=)" "" "0000273877" "00005493" "30" "2974" "-16" "2974" "-16" "c.2974-16C>G" "r.(=)" "p.(=)" "" "0000273878" "00005493" "90" "2437" "-3" "2454" "0" "c.2437-3_2454del" "r.spl?" "p.?" "" "0000273879" "00005493" "90" "2437" "-7" "2437" "-5" "c.2437-7_2437-5del" "r.spl?" "p.?" "" "0000273880" "00005493" "10" "2460" "0" "2460" "0" "c.2460T>C" "r.(?)" "p.(Leu820=)" "" "0000273881" "00005493" "10" "1764" "0" "1764" "0" "c.1764C>G" "r.(?)" "p.(Gly588=)" "" "0000273882" "00005493" "30" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Ser1010Asn)" "" "0000273883" "00005493" "50" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Trp)" "" "0000273884" "00005493" "10" "3160" "29" "3160" "29" "c.3160+29C>T" "r.(=)" "p.(=)" "" "0000273885" "00005493" "10" "3224" "-19" "3224" "-19" "c.3224-19G>A" "r.(=)" "p.(=)" "" "0000273886" "00005493" "50" "3233" "0" "3233" "0" "c.3233C>T" "r.(?)" "p.(Pro1078Leu)" "" "0000273887" "00005493" "50" "2717" "0" "2717" "0" "c.2717C>G" "r.(?)" "p.(Pro906Arg)" "" "0000273888" "00005493" "10" "3268" "-8" "3268" "-8" "c.3268-8G>A" "r.(=)" "p.(=)" "" "0000273889" "00005493" "50" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Gly1108Arg)" "" "0000273890" "00005493" "30" "3327" "0" "3327" "0" "c.3327C>T" "r.(?)" "p.(Gly1109=)" "" "0000273891" "00005493" "30" "3553" "0" "3553" "0" "c.3553G>A" "r.(?)" "p.(Val1185Ile)" "" "0000273892" "00005493" "30" "3567" "0" "3567" "0" "c.3567G>A" "r.(?)" "p.(Pro1189=)" "" "0000273893" "00005493" "10" "3618" "9" "3618" "10" "c.3618+9_3618+10del" "r.(=)" "p.(=)" "" "0000273894" "00005493" "50" "3117" "1" "3117" "1" "c.3117+1G>A" "r.spl?" "p.?" "" "0000273895" "00005493" "30" "3748" "-6" "3748" "-6" "c.3748-6T>A" "r.(=)" "p.(=)" "" "0000273896" "00005493" "10" "3213" "0" "3213" "0" "c.3213C>T" "r.(?)" "p.(Pro1071=)" "" "0000273897" "00005493" "30" "3781" "-15" "3781" "-15" "c.3781-15G>A" "r.(=)" "p.(=)" "" "0000273898" "00005493" "50" "3842" "0" "3842" "0" "c.3842C>G" "r.(?)" "p.(Pro1281Arg)" "" "0000273899" "00005493" "10" "3322" "0" "3322" "0" "c.3322G>C" "r.(?)" "p.(Gly1108Arg)" "" "0000273900" "00005493" "30" "3363" "0" "3364" "0" "c.3363_3364=" "r.(=)" "p.(Pro1121=)" "" "0000273901" "00005493" "50" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "" "0000273902" "00005493" "50" "3478" "0" "3478" "0" "c.3478C>T" "r.(?)" "p.(Arg1160Cys)" "" "0000273903" "00005493" "30" "4026" "14" "4026" "14" "c.4026+14C>G" "r.(=)" "p.(=)" "" "0000273904" "00005493" "30" "4027" "-5" "4027" "-5" "c.4027-5C>T" "r.spl?" "p.?" "" "0000273905" "00005493" "30" "3489" "0" "3489" "0" "c.3489T>C" "r.(?)" "p.(Pro1163=)" "" "0000273906" "00005493" "30" "3492" "0" "3492" "0" "c.3492C>A" "r.(?)" "p.(Pro1164=)" "" "0000273907" "00005493" "50" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Gly1165Ser)" "" "0000273908" "00005493" "90" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352ValfsTer72)" "" "0000273909" "00005493" "50" "4070" "0" "4070" "0" "c.4070G>A" "r.(?)" "p.(Arg1357Gln)" "" "0000273910" "00005493" "30" "4110" "0" "4110" "0" "c.4110G>A" "r.(?)" "p.(Ala1370=)" "" "0000273911" "00005493" "30" "4140" "0" "4140" "0" "c.4140C>T" "r.(?)" "p.(Arg1380=)" "" "0000273912" "00005493" "30" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Ala1381Thr)" "" "0000273913" "00005493" "30" "4161" "0" "4161" "0" "c.4161G>A" "r.(?)" "p.(Leu1387=)" "" "0000273914" "00005493" "50" "4204" "0" "4204" "0" "c.4204G>A" "r.(?)" "p.(Val1402Met)" "" "0000273916" "00005493" "50" "4266" "0" "4266" "0" "c.4266C>T" "r.(?)" "p.(Gly1422=)" "" "0000273917" "00005493" "30" "4340" "16" "4340" "16" "c.4340+16C>T" "r.(=)" "p.(=)" "" "0000273918" "00005493" "50" "4341" "-19" "4341" "-19" "c.4341-19G>A" "r.(=)" "p.(=)" "" "0000273919" "00005493" "10" "4341" "-20" "4341" "-20" "c.4341-20C>T" "r.(=)" "p.(=)" "" "0000273920" "00005493" "30" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Val1452Leu)" "" "0000273921" "00005493" "30" "4368" "0" "4368" "0" "c.4368G>A" "r.(?)" "p.(Ser1456=)" "" "0000273922" "00005493" "30" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Tyr1320=)" "" "0000273923" "00005493" "10" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Ala1326=)" "" "0000273924" "00005493" "10" "4026" "14" "4026" "14" "c.4026+14del" "r.(=)" "p.(=)" "" "0000273925" "00005493" "30" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Pro1107=)" "" "0000273926" "00005493" "50" "4041" "0" "4041" "0" "c.4041G>A" "r.(?)" "p.(Ala1347=)" "" "0000273927" "00005493" "30" "4195" "0" "4195" "0" "c.4195C>T" "r.(?)" "p.(Arg1399Cys)" "" "0000273928" "00005493" "50" "4196" "0" "4196" "0" "c.4196G>A" "r.(?)" "p.(Arg1399His)" "" "0000273929" "00005493" "10" "3937" "0" "3937" "0" "c.3937G>A" "r.(?)" "p.(Gly1313Arg)" "" "0000273930" "00005493" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Pro336=)" "" "0000273931" "00005493" "10" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Ile1404=)" "" "0000273932" "00005493" "30" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Ala346Thr)" "" "0000273933" "00005493" "10" "4309" "0" "4309" "0" "c.4309G>A" "r.(?)" "p.(Asp1437Asn)" "" "0000273934" "00005493" "30" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Gly173Ser)" "" "0000273935" "00005493" "10" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Ala381=)" "" "0000273936" "00005493" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "" "0000273937" "00005493" "30" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Leu403=)" "" "0000273938" "00005493" "10" "1278" "20" "1278" "20" "c.1278+20C>T" "r.(=)" "p.(=)" "" "0000273939" "00005493" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Leu454=)" "" "0000273940" "00005493" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Phe276=)" "" "0000273941" "00005493" "10" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Ala456=)" "" "0000273942" "00005493" "10" "1386" "0" "1386" "0" "c.1386G>T" "r.(?)" "p.(Thr462=)" "" "0000273943" "00005493" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Leu465=)" "" "0000273944" "00005493" "30" "1455" "0" "1455" "0" "c.1455G>T" "r.(?)" "p.(Val485=)" "" "0000273945" "00005493" "30" "1469" "-4" "1469" "-4" "c.1469-4C>A" "r.spl?" "p.?" "" "0000328688" "00005493" "50" "450" "0" "450" "0" "c.450C>G" "r.(?)" "p.(Gly150=)" "" "0000328689" "00005493" "30" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172His)" "" "0000328691" "00005493" "50" "1228" "0" "1228" "0" "c.1228dup" "r.(?)" "p.(Gln410ProfsTer14)" "" "0000328692" "00005493" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Met)" "" "0000328693" "00005493" "50" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Gly447=)" "" "0000328696" "00005493" "50" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(Pro918=)" "" "0000328698" "00005493" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127His)" "" "0000328700" "00005493" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000328701" "00005493" "30" "3504" "0" "3512" "0" "c.3504_3512dup" "r.(?)" "p.(Gly1171_Pro1173dup)" "" "0000328703" "00005493" "30" "3758" "0" "3758" "0" "c.3758G>A" "r.(?)" "p.(Arg1253Gln)" "" "0000328707" "00005493" "30" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Val1452Leu)" "" "0000328708" "00005493" "50" "7322" "0" "7322" "0" "c.*2762A>G" "r.(=)" "p.(=)" "" "0000328709" "00005493" "50" "8065" "0" "8065" "0" "c.*3505C>A" "r.(=)" "p.(=)" "" "0000346863" "00005493" "90" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352ValfsTer72)" "" "0000350262" "00005493" "50" "908" "0" "908" "0" "c.908T>A" "r.(?)" "p.(Val303Glu)" "" "0000570849" "00005493" "30" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Ala19Val)" "" "0000570851" "00005493" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Asp37=)" "" "0000570852" "00005493" "30" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Pro48Ala)" "" "0000570853" "00005493" "30" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Glu104=)" "" "0000570854" "00005493" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Val110=)" "" "0000570855" "00005493" "30" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Ile)" "" "0000570856" "00005493" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Cys)" "" "0000570857" "00005493" "30" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172His)" "" "0000570858" "00005493" "30" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Gly173Ser)" "" "0000570859" "00005493" "30" "534" "0" "534" "0" "c.534G>T" "r.(?)" "p.(Pro178=)" "" "0000570860" "00005493" "30" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000570861" "00005493" "30" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Thr183=)" "" "0000570863" "00005493" "30" "600" "0" "600" "0" "c.600G>T" "r.(?)" "p.(Arg200Ser)" "" "0000570864" "00005493" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Pro201Ser)" "" "0000570865" "00005493" "10" "639" "0" "639" "0" "c.639A>G" "r.(?)" "p.(Pro213=)" "" "0000570866" "00005493" "10" "646" "66" "646" "66" "c.646+66A>C" "r.(=)" "p.(=)" "" "0000570867" "00005493" "50" "646" "126" "646" "126" "c.646+126C>T" "r.(=)" "p.(=)" "" "0000570868" "00005493" "30" "646" "191" "646" "191" "c.646+191C>T" "r.(=)" "p.(=)" "" "0000570869" "00005493" "50" "646" "399" "646" "415" "c.646+399_646+415dup" "r.(=)" "p.(=)" "" "0000570870" "00005493" "30" "646" "568" "646" "568" "c.646+568C>T" "r.(=)" "p.(=)" "" "0000570871" "00005493" "50" "646" "587" "646" "587" "c.646+587C>A" "r.(=)" "p.(=)" "" "0000570872" "00005493" "30" "646" "644" "646" "644" "c.646+644C>T" "r.(=)" "p.(=)" "" "0000570873" "00005493" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000570876" "00005493" "10" "1050" "0" "1050" "0" "c.1050A>G" "r.(?)" "p.(Ala350=)" "" "0000570877" "00005493" "10" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Phe384=)" "" "0000570878" "00005493" "50" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Val385Met)" "" "0000570879" "00005493" "50" "1283" "0" "1283" "0" "c.1283C>T" "r.(?)" "p.(Ser428Phe)" "" "0000570881" "00005493" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Gly447=)" "" "0000570882" "00005493" "10" "1377" "0" "1377" "0" "c.1377C>A" "r.(?)" "p.(Pro459=)" "" "0000570883" "00005493" "10" "1377" "0" "1377" "0" "c.1377C>G" "r.(?)" "p.(Pro459=)" "" "0000570884" "00005493" "30" "1468" "5" "1468" "5" "c.1468+5G>C" "r.spl?" "p.?" "" "0000570885" "00005493" "50" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Trp)" "" "0000570886" "00005493" "30" "1545" "7" "1545" "7" "c.1545+7C>G" "r.(=)" "p.(=)" "" "0000570887" "00005493" "30" "1583" "0" "1583" "0" "c.1583C>T" "r.(?)" "p.(Pro528Leu)" "" "0000570888" "00005493" "30" "1604" "0" "1604" "0" "c.1604G>A" "r.(?)" "p.(Gly535Asp)" "" "0000570889" "00005493" "30" "1637" "0" "1637" "0" "c.1637C>G" "r.(?)" "p.(Pro546Arg)" "" "0000570890" "00005493" "10" "1698" "0" "1698" "0" "c.1698C>G" "r.(?)" "p.(Pro566=)" "" "0000570891" "00005493" "30" "1698" "0" "1698" "0" "c.1698C>G" "r.(?)" "p.(Pro566=)" "" "0000570892" "00005493" "50" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Pro601Ser)" "" "0000570893" "00005493" "50" "1851" "5" "1851" "5" "c.1851+5G>C" "r.spl?" "p.?" "" "0000570894" "00005493" "30" "1993" "-6" "1993" "-6" "c.1993-6G>A" "r.(=)" "p.(=)" "" "0000570895" "00005493" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Asp694Asn)" "" "0000570896" "00005493" "30" "2215" "-7" "2215" "-7" "c.2215-7C>T" "r.(=)" "p.(=)" "" "0000570897" "00005493" "30" "2215" "-6" "2215" "-6" "c.2215-6G>A" "r.(=)" "p.(=)" "" "0000570898" "00005493" "50" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Ala743Thr)" "" "0000570900" "00005493" "30" "2340" "0" "2348" "0" "c.2340_2348del" "r.(?)" "p.(Pro783_Pro785del)" "" "0000570901" "00005493" "30" "2340" "0" "2348" "0" "c.2340_2348dup" "r.(?)" "p.(Pro783_Pro785dup)" "" "0000570902" "00005493" "30" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Pro815=)" "" "0000570903" "00005493" "10" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Pro830=)" "" "0000570904" "00005493" "30" "2640" "0" "2640" "0" "c.2640G>A" "r.(?)" "p.(Pro880=)" "" "0000570905" "00005493" "90" "2658" "0" "2658" "0" "c.2658dup" "r.(?)" "p.(Gly887ArgfsTer23)" "" "0000570906" "00005493" "90" "2697" "2" "2697" "2" "c.2697+2T>C" "r.spl?" "p.?" "" "0000570907" "00005493" "30" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Val905Met)" "" "0000570908" "00005493" "30" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Val905Met)" "" "0000570909" "00005493" "50" "2743" "0" "2743" "0" "c.2743G>C" "r.(?)" "p.(Ala915Pro)" "" "0000570911" "00005493" "30" "2901" "0" "2901" "0" "c.2901G>T" "r.(?)" "p.(Pro967=)" "" "0000570912" "00005493" "30" "2919" "7" "2919" "7" "c.2919+7C>T" "r.(=)" "p.(=)" "" "0000570913" "00005493" "10" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Tyr976=)" "" "0000570914" "00005493" "30" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Thr1033Ile)" "" "0000570915" "00005493" "30" "3118" "0" "3118" "0" "c.3118G>T" "r.(?)" "p.(Val1040Leu)" "" "0000570918" "00005493" "30" "3268" "-8" "3268" "-8" "c.3268-8G>A" "r.(=)" "p.(=)" "" "0000570919" "00005493" "30" "3296" "0" "3296" "0" "c.3296G>C" "r.(?)" "p.(Gly1099Ala)" "" "0000570920" "00005493" "30" "3322" "0" "3322" "0" "c.3322G>C" "r.(?)" "p.(Gly1108Arg)" "" "0000570921" "00005493" "30" "3322" "0" "3322" "0" "c.3322G>C" "r.(?)" "p.(Gly1108Arg)" "" "0000570922" "00005493" "30" "3363" "0" "3371" "0" "c.3363_3371del" "r.(?)" "p.(Pro1124_Pro1126del)" "" "0000570923" "00005493" "30" "3363" "0" "3364" "0" "c.3363_3364=" "r.(=)" "p.(Pro1121=)" "" "0000570924" "00005493" "30" "3367" "0" "3372" "0" "c.3367_3372del" "r.(?)" "p.(Pro1123_Pro1124del)" "" "0000570925" "00005493" "30" "3363" "0" "3364" "0" "c.3363_3364=" "r.(=)" "p.(Pro1121=)" "" "0000570926" "00005493" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127His)" "" "0000570927" "00005493" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000570928" "00005493" "10" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Pro1164=)" "" "0000570930" "00005493" "30" "3504" "0" "3512" "0" "c.3504_3512del" "r.(?)" "p.(Gly1171_Pro1173del)" "" "0000570931" "00005493" "50" "3504" "0" "3512" "0" "c.3504_3512dup" "r.(?)" "p.(Gly1171_Pro1173dup)" "" "0000570933" "00005493" "50" "3588" "0" "3596" "0" "c.3588_3596del" "r.(?)" "p.(Pro1197_Gly1199del)" "" "0000570934" "00005493" "30" "3607" "0" "3607" "0" "c.3607G>A" "r.(?)" "p.(Ala1203Thr)" "" "0000570935" "00005493" "30" "3618" "9" "3618" "10" "c.3618+9_3618+10del" "r.(=)" "p.(=)" "" "0000570937" "00005493" "30" "3729" "0" "3729" "0" "c.3729C>T" "r.(?)" "p.(Asn1243=)" "" "0000570938" "00005493" "50" "3737" "0" "3737" "0" "c.3737G>A" "r.(?)" "p.(Arg1246Gln)" "" "0000570939" "00005493" "30" "3737" "0" "3737" "0" "c.3737G>A" "r.(?)" "p.(Arg1246Gln)" "" "0000570940" "00005493" "30" "3780" "0" "3780" "0" "c.3780G>A" "r.(?)" "p.(Thr1260=)" "" "0000570941" "00005493" "10" "3781" "-15" "3781" "-15" "c.3781-15G>A" "r.(=)" "p.(=)" "" "0000570942" "00005493" "50" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Ala1295Thr)" "" "0000570943" "00005493" "30" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Ala1295Thr)" "" "0000570944" "00005493" "30" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Ala1295Thr)" "" "0000570945" "00005493" "30" "3962" "0" "3962" "0" "c.3962T>C" "r.(?)" "p.(Val1321Ala)" "" "0000570946" "00005493" "30" "4011" "0" "4011" "0" "c.4011C>T" "r.(?)" "p.(Arg1337=)" "" "0000570947" "00005493" "30" "4011" "0" "4011" "0" "c.4011C>T" "r.(?)" "p.(Arg1337=)" "" "0000570951" "00005493" "30" "4134" "0" "4134" "0" "c.4134C>T" "r.(?)" "p.(Thr1378=)" "" "0000570952" "00005493" "30" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Ala1381Thr)" "" "0000570953" "00005493" "10" "4204" "0" "4204" "0" "c.4204G>A" "r.(?)" "p.(Val1402Met)" "" "0000570956" "00005493" "10" "4225" "-16" "4225" "-15" "c.4225-16_4225-15dup" "r.(=)" "p.(=)" "" "0000570957" "00005493" "10" "4225" "-16" "4225" "-15" "c.4225-16_4225-15dup" "r.(=)" "p.(=)" "" "0000570958" "00005493" "50" "4294" "0" "4294" "0" "c.4294C>T" "r.(?)" "p.(Arg1432Cys)" "" "0000570959" "00005493" "30" "4311" "0" "4311" "0" "c.4311C>T" "r.(?)" "p.(Asp1437=)" "" "0000570960" "00005493" "10" "4368" "0" "4368" "0" "c.4368G>A" "r.(?)" "p.(Ser1456=)" "" "0000570961" "00005493" "30" "4496" "0" "4496" "0" "c.4496A>G" "r.(?)" "p.(His1499Arg)" "" "0000570963" "00005493" "30" "8190" "0" "8190" "0" "c.*3630G>A" "r.(=)" "p.(=)" "" "0000618404" "00005493" "30" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Gly683Ser)" "" "0000618405" "00005493" "10" "2572" "-20" "2572" "-20" "c.2572-20T>C" "r.(=)" "p.(=)" "" "0000618406" "00005493" "30" "2698" "-9" "2698" "-9" "c.2698-9C>T" "r.(=)" "p.(=)" "" "0000618407" "00005493" "30" "2880" "0" "2880" "0" "c.2880G>C" "r.(?)" "p.(Gln960His)" "" "0000618408" "00005493" "30" "2952" "0" "2952" "0" "c.2952G>C" "r.(?)" "p.(Glu984Asp)" "" "0000618409" "00005493" "10" "3363" "0" "3364" "0" "c.3363_3364=" "r.(=)" "p.(Pro1121=)" "" "0000618410" "00005493" "30" "3509" "0" "3510" "0" "c.3509_3510insCGGCCCCCC" "r.(?)" "p.(Gly1171_Pro1173dup)" "" "0000618411" "00005493" "90" "3597" "0" "3598" "0" "c.3597_3598del" "r.(?)" "p.(Thr1200HisfsTer63)" "" "0000618412" "00005493" "90" "3598" "0" "3599" "0" "c.3598_3599insGCC" "r.(?)" "p.(Thr1200delinsSerPro)" "" "0000618413" "00005493" "30" "3608" "0" "3608" "0" "c.3608C>T" "r.(?)" "p.(Ala1203Val)" "" "0000618414" "00005493" "10" "4026" "14" "4026" "14" "c.4026+14C>G" "r.(=)" "p.(=)" "" "0000618415" "00005493" "50" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Val1452Met)" "" "0000624232" "00005493" "30" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Pro100=)" "" "0000624233" "00005493" "50" "646" "16" "646" "16" "c.646+16C>T" "r.(=)" "p.(=)" "" "0000624234" "00005493" "30" "1320" "0" "1320" "0" "c.1320G>C" "r.(?)" "p.(Glu440Asp)" "" "0000624235" "00005493" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Pro545Ser)" "" "0000624236" "00005493" "30" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Pro1058Ser)" "" "0000624237" "00005493" "30" "3847" "0" "3847" "0" "c.3847C>T" "r.(?)" "p.(Arg1283Trp)" "" "0000624238" "00005493" "30" "3911" "0" "3911" "0" "c.3911G>A" "r.(?)" "p.(Arg1304His)" "" "0000624239" "00005493" "50" "4369" "0" "4369" "0" "c.4369G>A" "r.(?)" "p.(Asp1457Asn)" "" "0000650882" "00005493" "30" "3268" "-8" "3268" "-8" "c.3268-8G>A" "r.(=)" "p.(=)" "" "0000650883" "00005493" "30" "4150" "0" "4150" "0" "c.4150G>A" "r.(?)" "p.(Ala1384Thr)" "" "0000650884" "00005493" "30" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Val1405Met)" "" "0000650885" "00005493" "10" "4221" "0" "4221" "0" "c.4221C>T" "" "" "" "0000650886" "00005493" "10" "4318" "0" "4318" "0" "c.4318G>A" "r.(?)" "p.(Asp1440Asn)" "" "0000658853" "00005493" "30" "646" "33" "646" "33" "c.646+33G>A" "r.(=)" "p.(=)" "" "0000658855" "00005493" "50" "2793" "0" "2793" "0" "c.2793C>T" "r.(?)" "p.(Gly931=)" "" "0000658856" "00005493" "30" "3234" "0" "3234" "0" "c.3234G>A" "r.(?)" "p.(Pro1078=)" "" "0000658857" "00005493" "50" "3690" "0" "3690" "0" "c.3690C>G" "r.(?)" "p.(Phe1230Leu)" "" "0000658858" "00005493" "50" "8016" "0" "8021" "0" "c.*3456_*3461dup" "r.(=)" "p.(=)" "" "0000663586" "00005493" "50" "646" "564" "646" "564" "c.646+564G>A" "r.(=)" "p.(=)" "" "0000669695" "00005493" "30" "3268" "-8" "3268" "-8" "c.3268-8G>A" "r.(=)" "p.(=)" "" "0000669696" "00005493" "30" "4150" "0" "4150" "0" "c.4150G>A" "r.(?)" "p.(Ala1384Thr)" "" "0000669697" "00005493" "10" "4318" "0" "4318" "0" "c.4318G>A" "r.(?)" "p.(Asp1440Asn)" "" "0000681742" "00005493" "30" "646" "470" "646" "470" "c.646+470G>A" "r.(=)" "p.(=)" "" "0000681743" "00005493" "30" "646" "623" "646" "623" "c.646+623G>C" "r.(=)" "p.(=)" "" "0000681744" "00005493" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ala295Val)" "" "0000681745" "00005493" "30" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Pro596=)" "" "0000681746" "00005493" "30" "2797" "0" "2797" "0" "c.2797C>G" "r.(?)" "p.(Arg933Gly)" "" "0000681747" "00005493" "50" "3446" "0" "3446" "0" "c.3446C>A" "r.(?)" "p.(Pro1149His)" "" "0000681748" "00005493" "30" "3911" "0" "3911" "0" "c.3911G>A" "r.(?)" "p.(Arg1304His)" "" "0000681749" "00005493" "50" "4274" "0" "4274" "0" "c.4274G>A" "r.(?)" "p.(Gly1425Asp)" "" "0000685162" "00005493" "90" "969" "0" "969" "0" "c.969dup" "r.(?)" "p.(Ala324Cysfs*38)" "" "0000693069" "00005493" "30" "646" "478" "646" "478" "c.646+478dup" "r.(=)" "p.(=)" "" "0000693070" "00005493" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Asp230=)" "" "0000693071" "00005493" "30" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000693072" "00005493" "90" "3213" "0" "3213" "0" "c.3213dup" "r.(?)" "p.(Gly1072ArgfsTer9)" "" "0000713313" "00005493" "90" "4063" "0" "4064" "0" "c.4063_4064del" "r.(?)" "p.(Leu1355Valfs*72)" "" "0000713400" "00005493" "90" "4063" "0" "4064" "0" "c.4063_4064del" "r.(?)" "p.(Leu1355Valfs*72)" "" "0000713574" "00005493" "90" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970*)" "" "0000713642" "00005493" "90" "2437" "-2" "2437" "-2" "c.2437-2A>G" "r.spl?" "p.?" "" "0000713853" "00005493" "90" "3358" "0" "3365" "0" "c.3358_3365del" "r.(?)" "p.(Gly1122Argfs*142)" "" "0000713886" "00005493" "90" "3207" "0" "3207" "0" "c.3207del" "r.(?)" "p.(Gly1072Aspfs*17)" "" "0000727945" "00005493" "90" "73" "0" "73" "0" "c.73del" "r.(?)" "p.(Leu25CysfsTer2)" "" "0000727946" "00005493" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Glu220Lys)" "" "0000727947" "00005493" "30" "801" "0" "801" "0" "c.801C>G" "r.(?)" "p.(Leu267=)" "" "0000727948" "00005493" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Arg)" "" "0000727949" "00005493" "50" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Gly434Arg)" "" "0000727950" "00005493" "30" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Val479=)" "" "0000727951" "00005493" "30" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Val902Ile)" "" "0000727952" "00005493" "30" "3312" "0" "3312" "0" "c.3312G>A" "r.(?)" "p.(Arg1104=)" "" "0000727953" "00005493" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Gly1154Ser)" "" "0000727954" "00005493" "30" "3795" "0" "3795" "0" "c.3795C>T" "r.(?)" "p.(Ala1265=)" "" "0000727955" "00005493" "50" "4177" "0" "4177" "0" "c.4177A>G" "r.(?)" "p.(Ile1393Val)" "" "0000727956" "00005493" "50" "4321" "0" "4321" "0" "c.4321G>A" "r.(?)" "p.(Val1441Ile)" "" "0000727957" "00005493" "30" "4341" "-10" "4341" "-10" "c.4341-10C>T" "r.(=)" "p.(=)" "" "0000794746" "00005493" "90" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Arg1095*)" "" "0000809420" "00005493" "30" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "" "0000809421" "00005493" "50" "199" "0" "199" "0" "c.199dup" "r.(?)" "p.(Arg67Profs*15)" "" "0000809422" "00005493" "30" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "" "0000809423" "00005493" "50" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Gly109Ser)" "" "0000809424" "00005493" "30" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Val117Met)" "" "0000809425" "00005493" "10" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Ile)" "" "0000809426" "00005493" "30" "646" "231" "646" "231" "c.646+231G>A" "r.(=)" "p.(=)" "" "0000809427" "00005493" "30" "1743" "0" "1743" "0" "c.1743T>C" "r.(?)" "p.(Pro581=)" "" "0000809428" "00005493" "30" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Ser693=)" "" "0000809429" "00005493" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Pro710Ser)" "" "0000809430" "00005493" "30" "2391" "0" "2391" "0" "c.2391C>T" "r.(?)" "p.(Ser797=)" "" "0000809431" "00005493" "50" "3691" "0" "3691" "0" "c.3691G>A" "r.(?)" "p.(Val1231Met)" "" "0000809432" "00005493" "50" "3872" "0" "3872" "0" "c.3872G>C" "r.(?)" "p.(Arg1291Pro)" "" "0000809433" "00005493" "30" "4027" "-4" "4027" "-4" "c.4027-4G>A" "r.spl?" "p.?" "" "0000809434" "00005493" "50" "4288" "0" "4288" "0" "c.4288G>A" "r.(?)" "p.(Gly1430Arg)" "" "0000809435" "00005493" "10" "4309" "0" "4309" "0" "c.4309G>A" "r.(?)" "p.(Asp1437Asn)" "" "0000809436" "00005493" "10" "4341" "-20" "4341" "-20" "c.4341-20C>T" "r.(=)" "p.(=)" "" "0000811406" "00005493" "70" "2658" "0" "2658" "0" "c.2658dup" "r.(?)" "p.(Gly887Argfs*23)" "" "0000811407" "00005493" "70" "4063" "0" "4064" "0" "c.4063_4064del" "r.(?)" "p.(Gly1355Hisfs*69)" "" "0000817658" "00005493" "70" "3513" "0" "3513" "0" "c.3513del" "r.(?)" "p.(Pro1173LeufsTer35)" "" "0000817659" "00005493" "70" "3618" "9" "3618" "10" "c.3618+9_3618+10del" "r.spl?" "p.(?)" "" "0000821226" "00005493" "70" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352Valfs*72)" "" "0000821227" "00005493" "70" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352Valfs*72)" "" "0000821228" "00005493" "70" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970*)" "" "0000821229" "00005493" "70" "2437" "-2" "2437" "-2" "c.2437-2A>G" "r.spl" "p.(?)" "" "0000821542" "00005493" "70" "3364" "0" "3371" "0" "c.3364_3371del" "r.(?)" "p.(Gly1122Argfs*142)" "" "0000821543" "00005493" "70" "3213" "0" "3213" "0" "c.3213del" "r.(?)" "p.(Gly1072Aspfs*17)" "" "0000855987" "00005493" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Thr60Ile)" "" "0000855988" "00005493" "30" "646" "564" "646" "564" "c.646+564G>A" "r.(=)" "p.(=)" "" "0000855989" "00005493" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Ala330=)" "" "0000855990" "00005493" "30" "1638" "0" "1638" "0" "c.1638G>T" "r.(?)" "p.(Pro546=)" "" "0000855991" "00005493" "10" "2215" "-6" "2215" "-6" "c.2215-6G>A" "r.(=)" "p.(=)" "" "0000855992" "00005493" "90" "3213" "0" "3213" "0" "c.3213dup" "r.(?)" "p.(Gly1072ArgfsTer9)" "" "0000855993" "00005493" "70" "3363" "0" "3364" "0" "c.3363_3364insCCCCCCA" "r.(?)" "p.(Gly1122Profs*144)" "" "0000855994" "00005493" "30" "3367" "0" "3372" "0" "c.3367_3372del" "r.(?)" "p.(Pro1123_Pro1124del)" "" "0000855995" "00005493" "50" "3845" "0" "3845" "0" "c.3845G>A" "r.(?)" "p.(Arg1282Gln)" "" "0000855996" "00005493" "30" "4353" "0" "4353" "0" "c.4353C>T" "r.(?)" "p.(Ser1451=)" "" "0000855997" "00005493" "50" "4451" "0" "4451" "0" "c.4451C>T" "r.(?)" "p.(Ser1484Leu)" "" "0000866655" "00005493" "30" "646" "184" "646" "184" "c.646+184C>A" "r.(=)" "p.(=)" "" "0000866656" "00005493" "10" "646" "347" "646" "347" "c.646+347C>T" "r.(=)" "p.(=)" "" "0000866657" "00005493" "30" "646" "490" "646" "490" "c.646+490C>G" "r.(=)" "p.(=)" "" "0000866658" "00005493" "50" "738" "0" "738" "0" "c.738G>C" "r.(?)" "p.(Leu246=)" "" "0000866659" "00005493" "30" "1789" "-3" "1789" "-3" "c.1789-3C>T" "r.spl?" "p.?" "" "0000866660" "00005493" "30" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(Phe648=)" "" "0000866661" "00005493" "30" "1993" "-3" "1993" "-3" "c.1993-3C>T" "r.spl?" "p.?" "" "0000866662" "00005493" "50" "2089" "0" "2089" "0" "c.2089G>A" "r.(?)" "p.(Gly697Arg)" "" "0000866663" "00005493" "50" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Gly798Arg)" "" "0000866664" "00005493" "50" "3050" "0" "3050" "0" "c.3050G>C" "r.(?)" "p.(Gly1017Ala)" "" "0000866665" "00005493" "30" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Gly1110=)" "" "0000866666" "00005493" "30" "3361" "0" "3361" "0" "c.3361C>G" "r.(?)" "p.(Pro1121Ala)" "" "0000895522" "00005493" "50" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Trp)" "" "0000895523" "00005493" "30" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Pro587=)" "" "0000895524" "00005493" "50" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Ala743Thr)" "" "0000895525" "00005493" "50" "3749" "0" "3749" "0" "c.3749T>C" "r.(?)" "p.(Leu1250Pro)" "" "0000895526" "00005493" "50" "4053" "0" "4055" "0" "c.4053_4055del" "r.(?)" "p.(Leu1352del)" "" "0000895527" "00005493" "50" "4070" "0" "4070" "0" "c.4070G>A" "r.(?)" "p.(Arg1357Gln)" "" "0000915466" "00005493" "10" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000915467" "00005493" "10" "4026" "14" "4026" "14" "c.4026+14C>G" "r.(=)" "p.(=)" "" "0000927098" "00005493" "30" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Pro815=)" "" "0000927099" "00005493" "30" "2697" "14" "2697" "14" "c.2697+14G>A" "r.(=)" "p.(=)" "" "0000927100" "00005493" "70" "3363" "0" "3363" "0" "c.3363del" "r.(?)" "p.(Gly1122Alafs*86)" "" "0000951519" "00005493" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000951520" "00005493" "30" "4070" "0" "4070" "0" "c.4070G>A" "r.(?)" "p.(Arg1357Gln)" "" "0000951521" "00005493" "10" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Val1452Leu)" "" "0000958269" "00005493" "90" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352ValfsTer72)" "" "0000958484" "00005493" "90" "3206" "0" "3206" "0" "c.3206dup" "r.(?)" "p.(Gly1072ArgfsTer9)" "" "0000958911" "00005493" "50" "2437" "-2" "2437" "-2" "c.2437-2A>G" "r.spl" "p.?" "" "0000958914" "00005493" "90" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352ValfsTer72)" "" "0000959345" "00005493" "70" "3492" "0" "3781" "-594" "c.3492_3781-594del" "r.spl" "p.?" "" "0000959351" "00005493" "50" "4304" "0" "4306" "0" "c.4304_4306del" "r.(?)" "p.(Ser1435del)" "" "0000959354" "00005493" "70" "484" "0" "484" "0" "c.484del" "r.(?)" "p.(Gln162ArgfsTer142)" "" "0000970324" "00005493" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Phe384=)" "" "0000970326" "00005493" "30" "2215" "-6" "2215" "-6" "c.2215-6G>A" "r.(=)" "p.(=)" "" "0000970327" "00005493" "30" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Val905Met)" "" "0000970328" "00005493" "90" "3098" "0" "3098" "0" "c.3098dup" "r.(?)" "p.(Pro1034Serfs*10)" "" "0000970329" "00005493" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000970330" "00005493" "70" "3627" "1" "3627" "1" "c.3627+1G>T" "r.spl?" "p.?" "" "0000984020" "00005493" "30" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Gly120Ser)" "" "0000984021" "00005493" "50" "646" "480" "646" "480" "c.646+480del" "r.(=)" "p.(=)" "" "0000984022" "00005493" "50" "646" "587" "646" "587" "c.646+587C>A" "r.(=)" "p.(=)" "" "0000984024" "00005493" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "" "0000984025" "00005493" "50" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Gly389Arg)" "" "0000984026" "00005493" "50" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Val411=)" "" "0000984027" "00005493" "50" "1994" "0" "1994" "0" "c.1994G>T" "r.(?)" "p.(Gly665Val)" "" "0000984028" "00005493" "50" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Pro675Ser)" "" "0000984029" "00005493" "30" "2215" "-7" "2215" "-7" "c.2215-7C>T" "r.(=)" "p.(=)" "" "0000984030" "00005493" "30" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(Ser749=)" "" "0000984031" "00005493" "30" "2608" "-7" "2608" "-7" "c.2608-7C>T" "r.(=)" "p.(=)" "" "0000984032" "00005493" "10" "2736" "0" "2736" "0" "c.2736G>A" "r.(?)" "p.(Pro912=)" "" "0000984033" "00005493" "50" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Gly1072Arg)" "" "0000984034" "00005493" "50" "3478" "0" "3478" "0" "c.3478C>T" "r.(?)" "p.(Arg1160Cys)" "" "0000984035" "00005493" "50" "3593" "0" "3593" "0" "c.3593dup" "r.(?)" "p.(Gly1199Trpfs*68)" "" "0000984036" "00005493" "50" "4120" "0" "4120" "0" "c.4120C>T" "r.(?)" "p.(Arg1374Trp)" "" "0000987674" "00005493" "70" "1785" "0" "1786" "0" "c.1785_1786delinsG" "r.(?)" "p.(Pro597LeufsTer127)" "" "0000987675" "00005493" "70" "1785" "0" "1786" "0" "c.1785_1786delinsG" "r.(?)" "p.(Pro597LeufsTer127)" "" "0000987676" "00005493" "70" "1785" "0" "1786" "0" "c.1785_1786delinsG" "r.(?)" "p.(Pro597LeufsTer127)" "" "0000987677" "00005493" "70" "1785" "0" "1786" "0" "c.1785_1786delinsG" "r.(?)" "p.(Pro597LeufsTer127)" "" "0001005797" "00005493" "30" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "" "0001005798" "00005493" "30" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "" "0001005799" "00005493" "50" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" "0001005800" "00005493" "30" "1087" "0" "1087" "0" "c.1087T>C" "r.(?)" "p.(Phe363Leu)" "" "0001005801" "00005493" "30" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Gly434Arg)" "" "0001005802" "00005493" "30" "1343" "0" "1343" "0" "c.1343C>A" "r.(?)" "p.(Ala448Glu)" "" "0001005803" "00005493" "50" "2653" "0" "2653" "0" "c.2653C>A" "r.(?)" "p.(Pro885Thr)" "" "0001005804" "00005493" "30" "3004" "0" "3004" "0" "c.3004G>C" "r.(?)" "p.(Glu1002Gln)" "" "0001005805" "00005493" "50" "3109" "0" "3109" "0" "c.3109G>A" "r.(?)" "p.(Asp1037Asn)" "" "0001005806" "00005493" "50" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Arg1095*)" "" "0001005807" "00005493" "50" "3296" "0" "3296" "0" "c.3296G>C" "r.(?)" "p.(Gly1099Ala)" "" "0001005808" "00005493" "10" "3363" "0" "3371" "0" "c.3363_3371del" "r.(?)" "p.(Pro1127_Pro1129del)" "" "0001005809" "00005493" "30" "3363" "0" "3372" "0" "c.3363_3372del" "r.(?)" "p.(Gly1122Alafs*86)" "" "0001005810" "00005493" "30" "3366" "0" "3382" "0" "c.3366_3382del" "r.(?)" "p.(Pro1124Thrfs*137)" "" "0001005811" "00005493" "30" "3367" "0" "3372" "0" "c.3367_3372del" "r.(?)" "p.(Pro1123_Pro1124del)" "" "0001005812" "00005493" "70" "3602" "0" "3602" "0" "c.3602dup" "r.(?)" "p.(Gly1202Trpfs*65)" "" "0001005813" "00005493" "30" "3727" "0" "3727" "0" "c.3727C>T" "r.(?)" "p.(Arg1243Cys)" "" "0001005814" "00005493" "30" "4027" "-5" "4027" "-5" "c.4027-5C>T" "r.spl?" "p.?" "" "0001015900" "00005493" "50" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Gly120Asp)" "" "0001015901" "00005493" "10" "1377" "0" "1377" "0" "c.1377C>G" "r.(?)" "p.(Pro459=)" "" "0001015902" "00005493" "70" "2918" "0" "2918" "0" "c.2918dup" "r.(?)" "p.(Pro975Serfs*69)" "" "0001015903" "00005493" "50" "3706" "0" "3706" "0" "c.3706G>A" "r.(?)" "p.(Glu1236Lys)" "" "0001027347" "00005493" "10" "3509" "0" "3510" "0" "c.3509_3510insCGGCCCCCC" "r.(?)" "p.(Gly1171_Pro1173dup)" "" "0001043636" "00005493" "30" "199" "0" "199" "0" "c.199del" "r.(?)" "p.(Arg67Glyfs*49)" "" "0001043637" "00005493" "30" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Pro596=)" "" "0001043638" "00005493" "30" "2151" "10" "2151" "10" "c.2151+10G>A" "r.(=)" "p.(=)" "" "0001043639" "00005493" "50" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0001043640" "00005493" "30" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(=)" "" "0001043641" "00005493" "50" "3206" "0" "3206" "0" "c.3206G>C" "r.(?)" "p.(Gly1069Ala)" "" "0001043642" "00005493" "30" "3409" "-9" "3409" "-9" "c.3409-9C>T" "r.(=)" "p.(=)" "" "0001043643" "00005493" "50" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Gly1165Ser)" "" "0001043644" "00005493" "50" "3691" "0" "3691" "0" "c.3691G>A" "r.(?)" "p.(Val1231Met)" "" "0001043645" "00005493" "90" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352ValfsTer72)" "" "0001043646" "00005493" "90" "4054" "0" "4055" "0" "c.4054_4055del" "r.(?)" "p.(Leu1352ValfsTer72)" "" "0001043647" "00005493" "50" "4148" "0" "4148" "0" "c.4148G>A" "r.(?)" "p.(Arg1383His)" "" "0001057033" "00005493" "90" "3213" "0" "3213" "0" "c.3213dup" "r.(?)" "p.(Gly1072ArgfsTer9)" "" "0001057034" "00005493" "50" "4166" "0" "4166" "0" "c.4166G>A" "r.(?)" "p.(Arg1389His)" "" "0001057035" "00005493" "30" "4309" "0" "4309" "0" "c.4309G>A" "r.(?)" "p.(Asp1437Asn)" "" "0001058200" "00005493" "90" "1968" "0" "1968" "0" "c.1968dup" "r.(?)" "p.(Gly657ArgfsTer84)" "" "0001058279" "00005493" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0001059385" "00026029" "90" "" "0" "" "0" "c.(2436+1_2437-1)_(_?)del" "r.?" "p.?" "16i_25i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000074597" "0000163582" "0000074597" "0000163583" "0000104469" "0000169275" "0000294193" "0000650882" "0000294194" "0000650883" "0000294195" "0000650884" "0000294196" "0000650885" "0000294197" "0000650886" "0000300751" "0000663586" "0000306007" "0000669695" "0000306008" "0000669696" "0000306009" "0000669697" "0000310251" "0000685162" "0000329190" "0000713313" "0000329277" "0000713400" "0000329451" "0000713574" "0000329451" "0000713853" "0000329519" "0000713642" "0000329519" "0000713886" "0000381345" "0000794746" "0000384646" "0000811406" "0000384647" "0000811407" "0000388871" "0000817658" "0000388871" "0000817659" "0000391477" "0000821226" "0000391478" "0000821227" "0000391479" "0000821228" "0000391479" "0000821542" "0000391480" "0000821229" "0000391480" "0000821543" "0000448626" "0000958484" "0000448783" "0000958269" "0000449144" "0000958911" "0000449144" "0000959345" "0000449147" "0000958914" "0000449147" "0000959351" "0000449148" "0000959354" "0000453161" "0000987674" "0000453162" "0000987675" "0000453163" "0000987676" "0000453164" "0000987677" "0000470113" "0001058200" "0000470113" "0001058279" "0000471248" "0001059385"