### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL5A2) # 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}}" "COL5A2" "collagen type V alpha 2 chain" "2" "q32.2" "unknown" "NG_011799.3" "UD_132118682241" "" "https://www.LOVD.nl/COL5A2" "" "1" "2210" "1290" "120190" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/COL5A2_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00000" "2009-10-06 00:00:00" "00085" "2024-02-13 14:22:06" "00006" "2025-09-17 10:05:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001229" "COL5A2" "collagen, type V, alpha 2" "001" "NM_000393.3" "" "NP_000384.2" "" "" "" "-275" "6655" "4500" "189896641" "190044605" "00000" "2012-09-13 13:20:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01301" "EDSHMB" "Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3)" "" "130020" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-01-15 08:54:52" "04193" "TAAD" "aneurysms, aortic, thoracic, dissections (TAAD)" "" "" "" "" "" "00006" "2015-02-14 21:35:57" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05784" "EDSCL1" "Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)" "AD" "130000" "" "" "" "00006" "2020-07-09 19:45:04" "00006" "2021-12-10 21:51:32" "05817" "EDSCL2" "Ehlers-Danlos, classic syndrome, type 2 (EDSCL2 EDS2)" "AD" "130010" "" "" "" "03701" "2020-08-24 11:20:25" "00006" "2021-12-10 21:51:32" "05821" "IS1" "scoliosis, idiopathic, susceptibility to, type 1 (IS-1)" "" "181800" "" "" "" "03701" "2020-08-26 12:03:07" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COL5A2" "00169" "COL5A2" "05817" ## Individuals ## Do not remove or alter this header ## ## Count = 119 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00080065" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00207803" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00292512" "" "" "" "207" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292513" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292514" "" "" "" "64" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292515" "" "" "" "99" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292516" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292517" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296401" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1" "00304763" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304764" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304765" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304766" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00319389" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "The variant was incorrectly described as an A>G substitution at position 801 of the legacy reference sequence when in fact the variant was at position 805." "" "" "" "" "0" "" "" "white" "" "00319390" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319391" "" "" "" "1" "" "00085" "{PMID:Grelet et al., 2019:31829210}" "This patient was diagnosed with an unspecified progeroid syndrome, having a phenotype consistent with accelerated ageing without a specific nosological(disease) classification. Human splicing finder predicted a potential alteration of splicing for the variant in COL5A2. The patient also carried a variant in the SYNE2 gene.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "P25" "00319392" "" "" "" "1" "" "03711" "" "" "" "" "" "" "0" "" "" "white" "" "00319393" "" "" "" "1" "" "00085" "{PMID:Ma et al., 2019:31694554}" "This variant was classified as benign according to bioinformatic analysis with SIFT and PolyPhen2. The variant was incorrectly described as c.587G > T in {PMID31694554:Ma et al., 2019}." "" "" "" "" "0" "" "" "" "" "00319394" "" "" "" "1" "" "00085" "{PMID:Watanabe et al., 2016:27656288}" "The technique used was the custom exome panel." "" "" "" "" "0" "" "" "" "" "00319395" "" "" "" "1" "" "00085" "{PMID:Weerakkody et al., 2018:29543232}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319396" "" "" "" "1" "" "03705" "" "This is a sporadic case (de novo mutation verified)." "" "" "Italy" "" "0" "" "" "Italian" "" "00319397" "" "" "" "1" "" "03706" "" "" "" "" "" "" "0" "" "" "" "" "00319398" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "mRNA analysis confirms skipping of exon 16." "" "" "" "" "0" "" "" "" "" "00319399" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "mRNA analysis confirms skipping of exon 16." "" "" "" "" "0" "" "" "" "" "00319400" "" "" "" "1" "" "00085" "{PMID:Baschal et al., 2018:29930198}" "The patient was diagnosed with idiopathic scoliosis.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "Family 26" "00319401" "" "" "" "1" "" "03705" "" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00319402" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "" "" "0" "" "" "" "" "00319403" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319404" "" "" "" "1" "" "00085" "" "The information in dbSNP is muddled. Care!" "" "" "" "" "0" "" "" "" "" "00319405" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "The sequence variant at the final base of exon 21 interferes with splicing: mRNA analysis shows skipping of exon 21." "" "" "" "" "0" "" "" "" "" "00319406" "" "" "" "1" "" "03711" "{PMID:Weerakkody et al., 2016:27011056}" "Classical EDS. Clear phenotype - markedly hyperextensible skin, generalised hypermobility (Beighton 8) including marked distal hypermobility, facies suggestive of Classical EDS, no critieria met for Vascular EDS. Collagen Proteins: normal proα1(III) pattern, LM: thickened elastic fibres. EM: irregular packing of collagen fibrils (no collagen rosettes). This patient has a disease-causing variant in COL3A1 but the intronic COL5A2 VUS is unlikely to disrupt splicing.This patient is also identified with ID 636. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "" "00319407" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "The mutations were originally described as a T>C substitution at position 1683 and a C>T substitution at position 2646 each in NM_000393.2 counting from the start of the sequence.The same combination of variants was also found in an unrelated control individual, implying that these variants are probably not disease causing.The c.1535T>C variant is recorded in {dbSNP35852101}." "" "" "" "" "0" "" "" "" "" "00319408" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2005:15580559}" "The author has confirmed that this variant was originally mistakenly described as c.1608+4T>C using NM_000393.2 as the reference sequence.This variant is mistakenly shown as being adjacent to exon 22 in Figure 3 in {PMID:Malfait and De Paepe, 2005:16278879}." "" "" "" "" "0" "" "" "" "" "00319409" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319410" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319411" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319412" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319413" "" "" "" "1" "" "03705" "" "This is a sporadic case (de novo mutation verified). The splice site variant is predicted, in silico, to result in the alteration of the canonical splice acceptor site adjacent to exon 29." "" "" "" "" "0" "" "" "" "" "00319414" "" "" "" "1" "" "00085" "{PMID:Michalickova et al., 1998:9425231}" "This patient is also presented as proband C-II-I by {PMID:Segev et al., 2006:16431952}. In both papers, the deletion is mistakenly described as being at the junction of intron 26 with exon 27 rather than at the junction of intron 28 with exon 29." "" "" "" "" "0" "" "" "" "" "00319415" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "This patient was previously described as mutation-negative in the study of {PMID:Malfait et al., 2005:15580559}." "" "" "" "" "0" "" "" "" "" "00319416" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "mRNA analysis demonstrates skipping of exon 29." "" "" "" "" "0" "" "" "" "" "00319417" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2020:32161841}" "Although EDS is associated with low bone mineral density (BMD), this COL5A2 variant was found to be recurrent in a high BMD group. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319418" "" "" "" "1" "" "03705" "{PMID:Ritelli et al., 2013:23587214}" "This sporadic case presents with a severe phenotype (de novo mutation verified).The substitution at the last base of exon 29 results in the exon being skipped." "" "" "Italy" "" "0" "" "" "Italian" "" "00319419" "" "" "" "1" "" "00085" "{PMID:Michalickova et al., 1998:9425231}" "" "" "" "" "" "0" "" "" "" "" "00319420" "" "" "" "1" "" "03711" "" "Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections." "" "" "" "" "0" "" "" "white" "" "00319421" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319422" "" "" "" "1" "" "00085" "{PMID:Li et al., 2016:27975164}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319423" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319424" "" "" "" "1" "" "03705" "{PMID:Ritelli et al., 2013:23587214}" "This sporadic case presents with a severe phenotype (de novo mutation verified)." "" "" "Italy" "" "0" "" "" "Italian" "" "00319425" "" "" "" "1" "" "03705" "" "Daughter of affected individual AN_002560." "" "" "Italy" "" "0" "" "" "Italian" "" "00319426" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2005:15580559}" "" "" "" "" "" "0" "" "" "" "" "00319427" "" "" "" "1" "" "00085" "{PMID:Fang et al., 2017:28855619}" "The variant is probably benign as the patient\'s grandson was also found to carry the variant but not display the phenotype. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319428" "" "" "" "1" "" "00085" "" "This variant is incorrectly described as c.2858_2859insG in dbSNP and the predicted amino acid substitution is wrong.In addition, the frameshift predicted by this variant would be expected to be pathogenic: a null allele.The dbSNP data concerning this variant need to be treated with caution." "" "" "" "" "0" "" "" "" "" "00319429" "" "" "" "1" "" "00085" "" "The dbSNP entry is rather muddled for this variant." "" "" "" "" "0" "" "" "" "" "00319430" "" "" "" "1" "" "01819" "" "mRNA analysis confirms skipping of exon 44." "" "" "" "" "0" "" "" "" "" "00319431" "" "" "" "1" "" "00085" "" "This variant is incorrectly described as c.3050_3051insA in dbSNP and the predicted amino acid substitution is wrong.In addition, the frameshift predicted by this variant would be expected to be pathogenic: a null allele.The dbSNP data concerning this variant need to be treated with caution." "" "" "" "" "0" "" "" "" "" "00319432" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "" "" "0" "" "" "" "" "00319433" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2005:15580559}" "" "" "" "" "" "0" "" "" "" "" "00319434" "" "" "" "1" "" "00085" "{PMID:Weerakkody et al., 2018:29543232}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319435" "" "" "" "1" "" "00085" "" "This variant is incorrectly described as c.3345_3346insG in dbSNP and the predicted amino acid sequence outcome is wrong.In addition, the frameshift predicted by this variant would be expected to be pathogenic: a null allele.The dbSNP data concerning this variant need to be treated with caution." "" "" "" "" "0" "" "" "" "" "00319436" "" "" "" "1" "" "00085" "{PMID:Fang et al., 2017:28855619}" "The patient was diagnosed with aortic aneurysm and rupture. The authors determined this to be a \'variant of unknown significance\'. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319437" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319438" "" "" "" "1" "" "00085" "{PMID:Mitchell et al., 2009:19370768}" "" "" "" "" "" "0" "" "" "" "P4" "00319439" "" "" "" "1" "" "00085" "{PMID:Richards et al., 1998:9783710}" "" "" "" "" "" "0" "" "" "" "II-2" "00319440" "" "" "" "1" "" "03711" "{PMID:Weerakkody et al., 2016:27011056}" "skin fragility, skin hyper-extensibility together with joint hypermobilityPatient ID 62." "" "" "" "" "0" "" "" "white" "" "00319441" "" "" "" "1" "" "03705" "" "This is a sporadic case (de novo mutation verified)." "" "" "Italy" "" "0" "" "" "Italian" "" "00319442" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "" "" "0" "" "" "" "" "00319443" "" "" "" "1" "" "02120" "" "Collagen biochemical analysis showed abnormal overmodification and intracellular retention of type V collagenThe technique used was the custom NGS Gene panel." "" "" "Malaysia" "" "0" "" "" "Malaysian" "" "00319444" "" "" "" "1" "" "00085" "{PMID:Martin et al., 2006:17053184}" "The variant was only published with the amino acid changes as T1227S, using NM_000393.2. The DNA change was deduced, and the amino acid change been corrected to T1230S, with reference to NM_000393.4." "" "" "" "" "0" "" "" "" "III-1" "00319445" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "This variant was originally mistakenly described as resulting in a Thr to Ser subsitution. The author has confirmed that it should be Thr to Arg.This mutation was previously described as c.3837C>GThe variant is recorded in {dbSNP62184175}." "" "" "" "" "0" "" "" "" "" "00319446" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "This mutation was originally described as an A>C substitution in NM_000393.2 at position 3838 counting from the start of the sequence.This variant is recorded in {dbSNP10197596}." "" "" "" "" "0" "" "" "white" "" "00319447" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "This mutation was originally described as a T>C substitution in NM_000393.2 at position 3868 counting from the start of the sequence.This variant is recorded in {dbSNP10208525}." "" "" "" "" "0" "" "" "white" "" "00319448" "" "" "" "1" "" "00085" "{PMID:Fang et al., 2017:28855619}" "The authors determined this to be a \'variant of uncertain significance\'. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319449" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319450" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "This mutation was originally described as a G>A substitution in NM_000393.2 at position 4388 counting from the start of the sequence.This variant is reported as being silent, but it actually results in a missense substitution." "" "" "" "" "0" "" "" "white" "" "00319451" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "This mutation was originally described as an A>T substitution in NM_000393.2 at position 4443 counting from the start of the sequence." "" "" "" "" "0" "" "" "white" "Patient 16" "00319452" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2005:15580559}" "The variant in this patient is described as leading to p.I1430fsx43 in the published account." "F" "" "" "" "0" "" "" "" "" "00319453" "" "" "" "1" "" "03714" "" "It\'s not clear that the patient\'s COL5A2 variant is necessarily the cause of the EDS I phenotype." "" "" "Philippines" "" "0" "" "" "Filipino" "" "00319454" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00319455" "" "" "" "1" "" "00085" "{PMID:Ziganshin et al., 2015:26188975}" "The proband had aneurysm of the ascending aorta.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "Patient 10" "00319456" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2018:30115950}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "" "00319457" "" "" "" "1" "" "00085" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "This mutation was originally described as a G>A substitution in NM_000393.2 at position 4946 counting from the start of the sequence." "" "" "" "" "0" "" "" "white" "" "00327630" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00334823" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006346" "00334824" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006347" "00334825" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006348" "00334827" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006349" "00334829" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006350" "00334830" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006351" "00334832" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006352" "00334834" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006353" "00334835" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006354" "00334838" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006355" "00334840" "" "" "" "1" "" "04004" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Belgium" "" "" "" "" "" "AN_006356" "00402811" "" "" "" "1" "" "03717" "" "" "" "" "" "" "" "" "" "" "" "00417028" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417038" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417039" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417044" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417051" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417053" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417056" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417074" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417077" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417080" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417107" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417115" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417119" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417141" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417152" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417834" "" "" "" "1" "" "01741" "" "" "M" "no" "Germany" "" "" "" "" "" "" "00431820" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0181" "00431824" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0185" "00431825" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0186" "00435227" "" "" "" "1" "" "04419" "{PMID:Xu et al., 2019:31517854}" "30y female with cEDS" "F" "no" "China" "" "0" "" "" "" "1" "00435355" "" "" "" "1" "" "03524" "" "" "F" "" "" "" "" "" "" "" "" "00448523" "" "" "" "1" "" "04669" "" "" "F" "no" "United States" ">23y" "0" "no" "" "" "A0790555" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 150 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00080065" "00169" "00292512" "00198" "00292513" "00198" "00292514" "00198" "00292515" "00198" "00292516" "00198" "00292517" "00198" "00296401" "00198" "00299640" "04214" "00304763" "00198" "00304764" "00198" "00304765" "00198" "00304766" "00198" "00319389" "00198" "00319390" "00198" "00319391" "00198" "00319392" "00169" "00319392" "01301" "00319393" "00198" "00319394" "00169" "00319394" "05784" "00319395" "04193" "00319396" "00169" "00319396" "05784" "00319397" "00169" "00319397" "05784" "00319398" "00169" "00319398" "05784" "00319399" "00169" "00319399" "05784" "00319400" "05821" "00319401" "00169" "00319401" "05784" "00319402" "00169" "00319402" "05784" "00319403" "00198" "00319404" "00198" "00319405" "00169" "00319405" "05784" "00319406" "00169" "00319406" "05784" "00319407" "00198" "00319408" "00169" "00319408" "05784" "00319409" "00198" "00319410" "00198" "00319411" "00198" "00319412" "00198" "00319413" "00169" "00319413" "05784" "00319414" "00169" "00319414" "05784" "00319415" "00169" "00319415" "05784" "00319416" "00169" "00319416" "05784" "00319417" "00198" "00319418" "00169" "00319418" "05784" "00319419" "00169" "00319419" "05784" "00319420" "00169" "00319420" "01301" "00319421" "00198" "00319422" "00198" "00319423" "00198" "00319424" "00169" "00319424" "05784" "00319425" "00169" "00319425" "05784" "00319426" "00169" "00319426" "05784" "00319427" "00198" "00319428" "00198" "00319429" "00198" "00319430" "00169" "00319430" "05784" "00319431" "00198" "00319432" "00169" "00319432" "05784" "00319433" "00169" "00319433" "05784" "00319434" "04193" "00319435" "00198" "00319436" "00198" "00319437" "00198" "00319438" "00169" "00319438" "05784" "00319439" "00169" "00319439" "05817" "00319440" "00169" "00319440" "05784" "00319441" "00169" "00319441" "05784" "00319442" "00169" "00319442" "05784" "00319443" "00169" "00319443" "05784" "00319444" "00198" "00319445" "00198" "00319446" "00198" "00319447" "00198" "00319448" "00198" "00319449" "00198" "00319450" "00198" "00319451" "00198" "00319452" "00169" "00319452" "05784" "00319453" "00169" "00319453" "05784" "00319454" "00198" "00319455" "04193" "00319456" "00198" "00319457" "00198" "00327630" "05817" "00334823" "05817" "00334824" "05817" "00334825" "05784" "00334827" "05817" "00334829" "05817" "00334830" "05817" "00334832" "05817" "00334834" "05817" "00334835" "05784" "00334838" "05784" "00334840" "05784" "00402811" "00169" "00417028" "00198" "00417038" "00198" "00417039" "00198" "00417044" "00198" "00417051" "00198" "00417053" "00198" "00417056" "00198" "00417074" "00198" "00417077" "00169" "00417080" "00198" "00417107" "00169" "00417115" "00198" "00417119" "00198" "00417141" "00198" "00417152" "00169" "00417834" "05817" "00431820" "00198" "00431824" "00198" "00431825" "00198" "00435227" "05784" "00435355" "00169" "00448523" "01301" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 01157, 01301, 04193, 04214, 05784, 05817, 05821 ## Count = 41 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000060796" "00169" "00080065" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155585" "00198" "00207803" "01164" "Unknown" "" "HP:0000767 (Pectus excavatum); HP:0001634 (Mitral valve prolapse); HP:0002622 (Dissecting aortic aneurysm); HP:0002943 (Thoracic scoliosis); HP:0000545 (Myopia)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223815" "00198" "00296401" "01164" "Unknown" "" "Abnormal eye physiology (HP:0012373); Abnormal joint morphology (HP:0001367); Joint hypermobility (HP:0001382)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000241887" "00198" "00319393" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241888" "04193" "00319395" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241889" "00198" "00319407" "00085" "-" "" "Cervical artery dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241890" "00198" "00319422" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241891" "00198" "00319427" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241892" "04193" "00319434" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241893" "00198" "00319436" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241894" "00198" "00319444" "00085" "-" "" "Artery dissections," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241895" "00198" "00319448" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241896" "04193" "00319455" "00085" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241897" "00198" "00319456" "00085" "-" "" "Artery dissections," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000252650" "05784" "00334825" "04004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cEDS" "cEDS" "" "0000252659" "05784" "00334835" "04004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cEDS" "cEDS" "" "0000252661" "05784" "00334838" "04004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cEDS" "cEDS" "" "0000252664" "05784" "00334840" "04004" "Familial, autosomal dominant" "" "Bilateral hip dislocation, progressive scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "cEDS" "kEDS" "" "0000308538" "00198" "00417028" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308548" "00198" "00417038" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308549" "00198" "00417039" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308554" "00198" "00417044" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308561" "00198" "00417051" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308563" "00198" "00417053" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308566" "00198" "00417056" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308584" "00198" "00417074" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308587" "00169" "00417077" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "classical Ehlers-Danlos syndrome" "" "0000308590" "00198" "00417080" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308617" "00169" "00417107" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "classical Ehlers-Danlos syndrome" "" "0000308625" "00198" "00417115" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308629" "00198" "00417119" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308651" "00198" "00417141" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308662" "00169" "00417152" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "classical Ehlers-Danlos syndrome" "" "0000309202" "05817" "00417834" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322389" "00198" "00431820" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322393" "00198" "00431824" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322394" "00198" "00431825" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000325426" "05784" "00435227" "04419" "Unknown" "30y" "A 30-year-old female presented to the plastic-surgery clinic with widen atrophic scars on forehead, elbows, knees and pretibial area that had developed since childhood. Physical examination revealed skin hyper extensibility, joint hypermobility, papyraceous scar and easy bruising." "" "" "" "" "" "" "" "" "" "" "" "" "" "cEDS" "" "0000337700" "01301" "00448523" "04669" "Familial, autosomal dominant" "" "" "14y" "" "" "" "" "19y" "" "" "" "" "" "" "Hypermobile EDS" "Hypermobile EDS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 119 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000080144" "00080065" "1" "01741" "01741" "2016-09-01 14:59:57" "" "" "SEQ" "DNA" "blood" "" "0000208844" "00207803" "1" "01164" "01164" "2018-11-30 14:46:51" "" "" "SEQ-NG" "DNA" "" "" "0000293680" "00292512" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293681" "00292513" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293682" "00292514" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293683" "00292515" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293684" "00292516" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293685" "00292517" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297512" "00296401" "1" "01164" "01164" "2020-04-06 09:48:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000305892" "00304763" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305893" "00304764" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305894" "00304765" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305895" "00304766" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000320570" "00319389" "1" "00085" "00085" "2009-10-30 11:43:47" "00085" "2011-08-23 13:04:27" "PCR;SEQ" "DNA" "" "" "0000320571" "00319390" "1" "00085" "00085" "2009-11-09 15:48:42" "" "" "?" "?" "" "" "0000320572" "00319391" "1" "00085" "00085" "2020-03-24 14:22:18" "00085" "2020-03-24 14:24:12" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320573" "00319392" "1" "03711" "03711" "2015-05-15 07:52:44" "" "" "SEQ-NG" "DNA" "" "" "0000320574" "00319393" "1" "00085" "00085" "2020-03-13 14:15:55" "00085" "2020-03-13 14:16:36" "SEQ" "DNA" "" "" "0000320575" "00319394" "1" "00085" "00085" "2020-03-09 15:45:49" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320576" "00319395" "1" "00085" "00085" "2020-03-09 16:15:28" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320577" "00319396" "1" "03705" "03705" "2014-08-04 11:16:57" "" "" "PCR;SEQ" "DNA" "" "" "0000320578" "00319397" "1" "03706" "03706" "2012-05-18 11:29:02" "" "" "MCA;SEQ" "DNA" "" "" "0000320579" "00319398" "1" "01819" "01819" "2012-05-08 11:16:39" "00085" "2013-03-20 11:31:31" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000320580" "00319399" "1" "01819" "01819" "2012-05-08 11:18:34" "00085" "2013-03-20 11:32:22" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000320581" "00319400" "1" "00085" "00085" "2020-03-18 12:37:07" "00085" "2020-07-06 11:39:20" "SEQ;SEQ-NG" "DNA" "" "" "0000320582" "00319401" "1" "03705" "03705" "2018-04-16 12:40:46" "" "" "PCR;SEQ" "DNA" "" "" "0000320583" "00319402" "1" "01819" "01819" "2012-05-08 11:20:02" "00085" "2013-03-20 11:33:32" "PCR;SEQ" "DNA" "" "" "0000320584" "00319403" "1" "00085" "00085" "2009-11-09 15:50:27" "" "" "?" "?" "" "" "0000320585" "00319404" "1" "00085" "00085" "2009-11-09 15:53:54" "00085" "2009-11-10 10:28:53" "?" "?" "" "" "0000320586" "00319405" "1" "01819" "01819" "2012-05-08 13:30:32" "00085" "2013-03-20 11:34:27" "RT-PCR;SEQ" "DNA" "" "" "0000320587" "00319406" "1" "03711" "03711" "2015-04-28 17:34:24" "00085" "2016-08-02 10:52:38" "SEQ-NG" "DNA" "" "" "0000320588" "00319407" "1" "00085" "00085" "2009-10-29 11:54:53" "00085" "2011-08-23 13:08:54" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320589" "00319408" "1" "00085" "00085" "2009-11-09 13:31:09" "00085" "2011-08-23 13:06:12" "DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA" "DNA;RNA" "" "" "0000320590" "00319409" "1" "00085" "00085" "2009-11-09 15:56:18" "" "" "?" "?" "" "" "0000320591" "00319410" "1" "00085" "00085" "2009-11-09 15:57:49" "" "" "?" "?" "" "" "0000320592" "00319411" "1" "00085" "00085" "2009-11-09 15:59:04" "" "" "?" "?" "" "" "0000320593" "00319412" "1" "00085" "00085" "2009-11-09 16:00:14" "00085" "2009-11-30 14:14:23" "?" "?" "" "" "0000320594" "00319413" "1" "03705" "03705" "2014-11-28 09:41:02" "00085" "2015-02-20 09:32:10" "PCR;SEQ" "DNA" "" "" "0000320595" "00319414" "1" "00085" "00085" "2009-10-28 15:11:28" "00085" "2011-08-23 13:07:49" "DSCA;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320596" "00319415" "1" "01819" "01819" "2012-05-08 11:22:18" "00085" "2013-03-20 11:30:13" "PCR;SEQ" "DNA" "" "" "0000320597" "00319416" "1" "01819" "01819" "2012-05-08 13:34:42" "00085" "2013-03-20 11:36:39" "RT-PCR;SEQ" "DNA" "" "" "0000320598" "00319417" "1" "00085" "00085" "2020-03-24 16:15:54" "00085" "2020-03-24 16:17:13" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320599" "00319418" "1" "03705" "03705" "2012-11-02 10:36:19" "00085" "2013-04-22 14:08:38" "PCR;SEQ" "DNA" "" "" "0000320600" "00319419" "1" "00085" "00085" "2009-10-28 15:13:07" "00085" "2011-08-23 13:09:36" "DSCA;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320601" "00319420" "1" "03711" "03711" "2015-05-07 21:03:03" "00085" "2019-08-13 14:45:17" "SEQ-NG" "DNA" "" "" "0000320602" "00319421" "1" "00085" "00085" "2009-11-09 16:02:22" "" "" "?" "?" "" "" "0000320603" "00319422" "1" "00085" "00085" "2020-03-10 17:09:39" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000320604" "00319423" "1" "00085" "00085" "2009-11-09 16:03:42" "" "" "?" "?" "" "" "0000320605" "00319424" "1" "03705" "03705" "2012-10-29 12:05:06" "00085" "2013-04-22 14:09:46" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000320606" "00319425" "1" "03705" "03705" "2015-08-25 10:43:11" "" "" "PCR;SEQ" "DNA" "" "" "0000320607" "00319426" "1" "00085" "00085" "2009-10-30 14:44:14" "00085" "2011-08-23 13:10:18" "DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA" "DNA;RNA" "" "" "0000320608" "00319427" "1" "00085" "00085" "2020-03-31 11:19:54" "00085" "2020-03-31 11:32:09" "SEQ-NG" "DNA" "" "" "0000320609" "00319428" "1" "00085" "00085" "2009-11-09 16:08:14" "00085" "2009-11-10 10:59:39" "?" "?" "" "" "0000320610" "00319429" "1" "00085" "00085" "2009-11-09 16:11:02" "00085" "2009-11-10 11:05:01" "?" "?" "" "" "0000320611" "00319430" "1" "01819" "01819" "2012-05-08 13:36:49" "00085" "2012-06-07 15:17:38" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000320612" "00319431" "1" "00085" "00085" "2009-11-09 16:13:10" "00085" "2009-11-10 11:12:10" "?" "?" "" "" "0000320613" "00319432" "1" "01819" "01819" "2012-05-08 13:38:36" "00085" "2013-03-20 11:39:50" "PCR;SEQ" "DNA" "" "" "0000320614" "00319433" "1" "00085" "00085" "2009-10-30 14:48:52" "00085" "2011-08-23 13:20:00" "DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA" "DNA;RNA" "" "" "0000320615" "00319434" "1" "00085" "00085" "2020-03-09 16:13:27" "" "" "SEQ-NG;PCR" "DNA" "" "" "0000320616" "00319435" "1" "00085" "00085" "2009-11-09 16:16:10" "00085" "2009-11-10 11:19:05" "?" "?" "" "" "0000320617" "00319436" "1" "00085" "00085" "2020-03-31 11:47:44" "00085" "2020-03-31 11:48:41" "SEQ-NG" "DNA" "" "" "0000320618" "00319437" "1" "00085" "00085" "2009-11-09 16:19:05" "" "" "?" "?" "" "" "0000320619" "00319438" "1" "00085" "00085" "2009-10-27 14:48:21" "00085" "2011-08-23 13:20:31" "PCR;RT-PCR;SEQ;HD" "DNA;RNA" "" "" "0000320620" "00319439" "1" "00085" "00085" "2009-10-28 15:44:19" "00085" "2011-08-23 13:21:24" "RT-PCR;SEQ" "RNA" "" "" "0000320621" "00319440" "1" "03711" "03711" "2015-05-15 07:54:42" "00085" "2016-08-02 11:36:16" "SEQ-NG" "DNA" "" "" "0000320622" "00319441" "1" "03705" "03705" "2013-04-02 15:26:37" "" "" "PCR;SEQ" "DNA" "" "" "0000320623" "00319442" "1" "01819" "01819" "2012-05-08 13:40:11" "00085" "2013-03-20 11:41:32" "PCR;SEQ" "DNA" "" "" "0000320624" "00319443" "1" "02120" "02120" "2017-10-27 09:18:45" "" "" "SEQ-NG" "DNA" "" "" "0000320625" "00319444" "1" "00085" "00085" "2020-03-19 15:32:48" "" "" "PCR;RT-PCR;SEQ" "DNA" "" "" "0000320626" "00319445" "1" "00085" "00085" "2009-11-03 11:54:37" "00085" "2011-08-23 13:24:17" "?" "?" "" "" "0000320627" "00319446" "1" "00085" "00085" "2009-10-29 12:20:41" "00085" "2020-07-02 14:38:49" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320628" "00319447" "1" "00085" "00085" "2009-10-29 12:22:48" "00085" "2011-08-23 13:44:40" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320629" "00319448" "1" "00085" "00085" "2020-03-31 12:04:13" "" "" "SEQ-NG" "DNA" "" "" "0000320630" "00319449" "1" "00085" "00085" "2009-11-09 16:21:54" "" "" "?" "?" "" "" "0000320631" "00319450" "1" "00085" "00085" "2009-10-29 12:24:13" "00085" "2011-08-23 13:38:50" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320632" "00319451" "1" "00085" "00085" "2009-10-29 12:07:15" "00085" "2020-07-02 14:42:57" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000320633" "00319452" "1" "00085" "00085" "2009-10-29 14:19:46" "00085" "2011-08-23 13:22:18" "DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA" "DNA;RNA" "" "" "0000320634" "00319453" "1" "03714" "03714" "2016-02-15 16:52:51" "00085" "2016-04-04 16:39:34" "SEQ" "DNA" "" "" "0000320635" "00319454" "1" "00085" "00085" "2009-11-09 16:23:10" "" "" "?" "?" "" "" "0000320636" "00319455" "1" "00085" "00085" "2015-07-27 15:55:03" "" "" "SEQ-NG" "DNA" "" "" "0000320637" "00319456" "1" "00085" "00085" "2020-03-16 12:26:29" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000320638" "00319457" "1" "00085" "00085" "2009-10-29 13:46:37" "00085" "2011-08-23 13:45:12" "PCR;RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000328847" "00327630" "1" "01741" "01741" "2021-01-25 14:21:00" "" "" "SEQ-NG" "DNA" "" "" "0000336051" "00334823" "1" "04004" "04004" "2021-03-01 21:13:51" "" "" "arrayCGH" "DNA" "" "" "0000336053" "00334824" "1" "04004" "04004" "2021-03-01 21:16:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000336054" "00334825" "1" "04004" "04004" "2021-03-01 21:19:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000336056" "00334827" "1" "04004" "04004" "2021-03-01 21:22:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000336058" "00334829" "1" "04004" "04004" "2021-03-01 21:26:17" "" "" "SEQ" "DNA" "" "" "0000336059" "00334830" "1" "04004" "04004" "2021-03-01 21:28:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000336061" "00334832" "1" "04004" "04004" "2021-03-01 21:30:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000336062" "00334834" "1" "04004" "04004" "2021-03-01 21:34:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000336064" "00334835" "1" "04004" "04004" "2021-03-01 21:36:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000336067" "00334838" "1" "04004" "04004" "2021-03-01 21:44:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000336069" "00334840" "1" "04004" "04004" "2021-03-01 21:47:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000404052" "00402811" "1" "03717" "03717" "2022-02-10 20:31:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000418308" "00417028" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418318" "00417038" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418319" "00417039" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418324" "00417044" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418331" "00417051" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418333" "00417053" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418336" "00417056" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418354" "00417074" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418357" "00417077" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418360" "00417080" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418387" "00417107" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418395" "00417115" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418399" "00417119" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418421" "00417141" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418432" "00417152" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000419129" "00417834" "1" "01741" "01741" "2022-09-26 10:07:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000433259" "00431820" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433263" "00431824" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433264" "00431825" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000436705" "00435227" "1" "04419" "04419" "2023-06-19 03:37:44" "" "" "?" "DNA" "Peripheral blood" "WES" "0000436835" "00435355" "1" "03524" "03524" "2023-07-19 11:41:57" "" "" "SEQ-NG" "DNA" "" "" "0000450106" "00448523" "1" "04669" "04669" "2024-03-23 23:45:57" "00085" "2024-03-27 09:56:47" "?" "DNA" "blood" "HDCT" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 121 "{{screeningid}}" "{{geneid}}" "0000080144" "COL5A2" "0000300750" "ARHGEF18" "0000320570" "COL5A2" "0000320571" "COL5A2" "0000320572" "COL5A2" "0000320573" "COL5A2" "0000320574" "COL5A2" "0000320575" "COL5A2" "0000320576" "COL5A2" "0000320577" "COL5A2" "0000320578" "COL5A2" "0000320579" "COL5A2" "0000320580" "COL5A2" "0000320581" "COL5A2" "0000320582" "COL5A2" "0000320583" "COL5A2" "0000320584" "COL5A2" "0000320585" "COL5A2" "0000320586" "COL5A2" "0000320587" "COL5A2" "0000320588" "COL5A2" "0000320589" "COL5A2" "0000320590" "COL5A2" "0000320591" "COL5A2" "0000320592" "COL5A2" "0000320593" "COL5A2" "0000320594" "COL5A2" "0000320595" "COL5A2" "0000320596" "COL5A2" "0000320597" "COL5A2" "0000320598" "COL5A2" "0000320599" "COL5A2" "0000320600" "COL5A2" "0000320601" "COL5A2" "0000320602" "COL5A2" "0000320603" "COL5A2" "0000320604" "COL5A2" "0000320605" "COL5A2" "0000320606" "COL5A2" "0000320607" "COL5A2" "0000320608" "COL5A2" "0000320609" "COL5A2" "0000320610" "COL5A2" "0000320611" "COL5A2" "0000320612" "COL5A2" "0000320613" "COL5A2" "0000320614" "COL5A2" "0000320615" "COL5A2" "0000320616" "COL5A2" "0000320617" "COL5A2" "0000320618" "COL5A2" "0000320619" "COL5A2" "0000320620" "COL5A2" "0000320621" "COL5A2" "0000320622" "COL5A2" "0000320623" "COL5A2" "0000320624" "COL5A2" "0000320625" "COL5A2" "0000320626" "COL5A2" "0000320627" "COL5A2" "0000320628" "COL5A2" "0000320629" "COL5A2" "0000320630" "COL5A2" "0000320631" "COL5A2" "0000320632" "COL5A2" "0000320633" "COL5A2" "0000320634" "COL5A2" "0000320635" "COL5A2" "0000320636" "COL5A2" "0000320637" "COL5A2" "0000320638" "COL5A2" "0000328847" "COL5A2" "0000336051" "COL5A1" "0000336051" "COL5A2" "0000336053" "COL5A1" "0000336053" "COL5A2" "0000336054" "COL5A1" "0000336054" "COL5A2" "0000336056" "COL5A1" "0000336056" "COL5A2" "0000336058" "COL5A2" "0000336059" "COL5A1" "0000336059" "COL5A2" "0000336061" "COL5A1" "0000336061" "COL5A2" "0000336062" "ADAMTS2" "0000336062" "COL5A1" "0000336062" "COL5A2" "0000336064" "COL5A1" "0000336064" "COL5A2" "0000336067" "COL5A1" "0000336067" "COL5A2" "0000336069" "COL5A2" "0000404052" "COL5A1" "0000419129" "ACTA2" "0000419129" "COL1A1" "0000419129" "COL3A1" "0000419129" "COL4A5" "0000419129" "COL5A1" "0000419129" "COL5A2" "0000419129" "FBN1" "0000419129" "MYH11" "0000419129" "MYLK" "0000419129" "SMAD3" "0000419129" "TGFB2" "0000419129" "TGFBR1" "0000419129" "TGFBR2" "0000436705" "COL5A2" "0000436835" "COL5A2" "0000450106" "COL11A1" "0000450106" "COL12A1" "0000450106" "COL1A1" "0000450106" "COL1A2" "0000450106" "COL2A1" "0000450106" "COL3A1" "0000450106" "COL4A1" "0000450106" "COL5A1" "0000450106" "COL5A2" "0000450106" "COL9A1" "0000450106" "COL9A2" "0000450106" "TNXB" ## 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 = 309 "{{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}}" "0000002309" "3" "50" "2" "190020093" "190020096" "del" "0" "00037" "COL5A2_000155" "g.190020093_190020096del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.189155367_189155370del" "" "VUS" "" "0000129056" "0" "50" "2" "189926402" "189926402" "subst" "0" "01741" "COL5A2_000156" "g.189926402A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.189061676A>G" "" "VUS" "" "0000248298" "0" "10" "2" "189907937" "189907937" "subst" "0.950025" "02325" "COL5A2_000116" "g.189907937A>G" "" "" "" "COL5A2(NM_000393.5):c.3411T>C (p.G1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000250008" "0" "10" "2" "189931144" "189931144" "subst" "0.0183101" "02329" "COL5A2_000007" "g.189931144A>G" "" "" "" "COL5A2(NM_000393.5):c.1535T>C (p.V512A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189066418A>G" "" "benign" "" "0000250010" "0" "10" "2" "189975187" "189975187" "subst" "0.0282547" "02329" "COL5A2_000110" "g.189975187A>C" "" "" "" "COL5A2(NM_000393.5):c.98-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189110461A>C" "" "benign" "" "0000250033" "0" "10" "2" "189907937" "189907937" "subst" "0.950025" "02329" "COL5A2_000116" "g.189907937A>G" "" "" "" "COL5A2(NM_000393.5):c.3411T>C (p.G1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000250082" "0" "10" "2" "189904203" "189904203" "subst" "0.10518" "02329" "COL5A2_000011" "g.189904203A>G" "" "" "" "COL5A2(NM_000393.5):c.3720T>C (p.Y1240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189039477A>G" "" "benign" "" "0000250191" "0" "10" "2" "189940104" "189940104" "subst" "0.00191792" "02329" "COL5A2_000097" "g.189940104A>G" "" "" "" "COL5A2(NM_000393.5):c.1104+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189075378A>G" "" "benign" "" "0000250192" "0" "10" "2" "189962072" "189962072" "subst" "0.0222237" "02329" "COL5A2_000103" "g.189962072A>T" "" "" "" "COL5A2(NM_000393.5):c.403-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189097346A>T" "" "benign" "" "0000250868" "0" "10" "2" "189931144" "189931144" "subst" "0.0183101" "02326" "COL5A2_000007" "g.189931144A>G" "" "" "" "COL5A2(NM_000393.5):c.1535T>C (p.V512A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189066418A>G" "" "benign" "" "0000250870" "0" "10" "2" "189975187" "189975187" "subst" "0.0282547" "02326" "COL5A2_000110" "g.189975187A>C" "" "" "" "COL5A2(NM_000393.5):c.98-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189110461A>C" "" "benign" "" "0000251777" "0" "30" "2" "189898904" "189898904" "subst" "0.000215598" "02326" "COL5A2_000159" "g.189898904A>G" "" "" "" "COL5A2(NM_000393.5):c.4392T>C (p.Y1464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189034178A>G" "" "likely benign" "" "0000251929" "0" "30" "2" "189927926" "189927926" "subst" "0" "02326" "COL5A2_000088" "g.189927926A>T" "" "" "" "COL5A2(NM_000393.5):c.1841T>A (p.M614K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189063200A>T" "" "likely benign" "" "0000252062" "0" "30" "2" "189912994" "189912994" "subst" "0" "02326" "COL5A2_000165" "g.189912994A>G" "" "" "" "COL5A2(NM_000393.5):c.3148-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189048268A>G" "" "likely benign" "" "0000252745" "0" "50" "2" "189974961" "189974961" "subst" "0" "02326" "COL5A2_000108" "g.189974961A>T" "" "" "" "COL5A2(NM_000393.5):c.312T>A (p.N104K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189110235A>T" "" "VUS" "" "0000266992" "0" "10" "2" "189932831" "189932831" "subst" "0.95682" "02325" "COL5A2_000021" "g.189932831T>C" "" "" "" "COL5A2(NM_000393.5):c.1311A>G (p.P437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000266993" "0" "10" "2" "189974958" "189974958" "subst" "0.930746" "02325" "COL5A2_000106" "g.189974958G>T" "" "" "" "COL5A2(NM_000393.5):c.315C>A (p.T105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000268427" "0" "10" "2" "189943304" "189943304" "subst" "0.0173068" "02329" "COL5A2_000099" "g.189943304G>A" "" "" "" "COL5A2(NM_000393.5):c.1006-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189078578G>A" "" "benign" "" "0000268428" "0" "10" "2" "189940142" "189940142" "subst" "0.018302" "02329" "COL5A2_000067" "g.189940142T>G" "" "" "" "COL5A2(NM_000393.5):c.1081A>C (p.(Met361Leu), p.M361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189075416T>G" "" "benign" "" "0000268429" "0" "10" "2" "189932831" "189932831" "subst" "0.95682" "02329" "COL5A2_000021" "g.189932831T>C" "" "" "" "COL5A2(NM_000393.5):c.1311A>G (p.P437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000268430" "0" "10" "2" "189932764" "189932764" "subst" "0.0319492" "02329" "COL5A2_000022" "g.189932764G>A" "" "" "" "COL5A2(NM_000393.5):c.1378C>T (p.P460S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189068038G>A" "" "benign" "" "0000268431" "0" "10" "2" "189932742" "189932742" "subst" "0.00213138" "02329" "COL5A2_000093" "g.189932742G>A" "" "" "" "COL5A2(NM_000393.5):c.1400C>T (p.P467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189068016G>A" "" "benign" "" "0000268432" "0" "30" "2" "189931456" "189931456" "subst" "0.00048771" "02329" "COL5A2_000092" "g.189931456G>T" "" "" "" "COL5A2(NM_000393.5):c.1454C>A (p.P485Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189066730G>T" "" "likely benign" "" "0000268433" "0" "10" "2" "189929400" "189929400" "subst" "0.00126613" "02329" "COL5A2_000090" "g.189929400G>C" "" "" "" "COL5A2(NM_000393.5):c.1618-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189064674G>C" "" "benign" "" "0000268434" "0" "10" "2" "189925516" "189925516" "subst" "0.00164286" "02329" "COL5A2_000087" "g.189925516C>T" "" "" "" "COL5A2(NM_000393.4):c.2032-7G>A, COL5A2(NM_000393.5):c.2032-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189060790C>T" "" "benign" "" "0000268435" "0" "10" "2" "189923642" "189923642" "del" "0" "02329" "COL5A2_000083" "g.189923642del" "" "" "" "COL5A2(NM_000393.5):c.2086-12delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189058916del" "" "benign" "" "0000268436" "0" "10" "2" "189923641" "189923642" "del" "0" "02329" "COL5A2_000085" "g.189923641_189923642del" "" "" "" "COL5A2(NM_000393.3):c.2086-13_2086-12delAA, COL5A2(NM_000393.5):c.2086-13_2086-12delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189058915_189058916del" "" "benign" "" "0000268437" "0" "10" "2" "189923642" "189923642" "dup" "0" "02329" "COL5A2_000084" "g.189923642dup" "" "" "" "COL5A2(NM_000393.5):c.2086-12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189058916dup" "" "benign" "" "0000268439" "0" "10" "2" "189918622" "189918622" "subst" "0.0171841" "02329" "COL5A2_000018" "g.189918622G>A" "" "" "" "COL5A2(NM_000393.5):c.2498C>T (p.P833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189053896G>A" "" "benign" "" "0000268440" "0" "10" "2" "189917736" "189917736" "subst" "0.00246767" "02329" "COL5A2_000078" "g.189917736G>A" "" "" "" "COL5A2(NM_000393.4):c.2562C>T (p.D854=), COL5A2(NM_000393.5):c.2562C>T (p.D854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189053010G>A" "" "benign" "" "0000268441" "0" "30" "2" "189975012" "189975012" "subst" "0.00172345" "02329" "COL5A2_000109" "g.189975012C>T" "" "" "" "COL5A2(NM_000393.4):c.261G>A (p.T87=), COL5A2(NM_000393.5):c.261G>A (p.(Thr87=), p.T87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189110286C>T" "" "likely benign" "" "0000268442" "0" "10" "2" "189917617" "189917617" "subst" "0.00231172" "02329" "COL5A2_000077" "g.189917617C>T" "" "" "" "COL5A2(NM_000393.5):c.2661+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189052891C>T" "" "benign" "" "0000268443" "0" "90" "2" "189916144" "189916144" "subst" "0" "02329" "COL5A2_000075" "g.189916144C>T" "" "" "" "COL5A2(NM_000393.5):c.2833G>A (p.G945R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189051418C>T" "" "pathogenic" "" "0000268444" "0" "30" "2" "189914122" "189914122" "subst" "0.00243194" "02329" "COL5A2_000074" "g.189914122G>A" "" "" "" "COL5A2(NM_000393.5):c.3098C>T (p.P1033L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189049396G>A" "" "likely benign" "" "0000268445" "0" "10" "2" "189974958" "189974958" "subst" "0.930746" "02329" "COL5A2_000106" "g.189974958G>T" "" "" "" "COL5A2(NM_000393.5):c.315C>A (p.T105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000268446" "0" "30" "2" "189910527" "189910527" "subst" "4.46915E-5" "02329" "COL5A2_000164" "g.189910527G>A" "" "" "" "COL5A2(NM_000393.4):c.3308C>T (p.P1103L), COL5A2(NM_000393.5):c.3308C>T (p.P1103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189045801G>A" "" "likely benign" "" "0000268447" "0" "30" "2" "189909927" "189909927" "subst" "1.64958E-5" "02329" "COL5A2_000163" "g.189909927C>T" "" "" "" "COL5A2(NM_000393.5):c.3341G>A (p.R1114Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189045201C>T" "" "likely benign" "" "0000268448" "0" "30" "2" "190044298" "190044298" "subst" "0.000755515" "02329" "COL5A2_000111" "g.190044298G>A" "" "" "" "COL5A2(NM_000393.5):c.33C>T (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189179572G>A" "" "likely benign" "" "0000268449" "0" "10" "2" "189963501" "189963501" "subst" "0.00731775" "02329" "COL5A2_000104" "g.189963501G>A" "" "" "" "COL5A2(NM_000393.5):c.370-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189098775G>A" "" "benign" "" "0000268450" "0" "30" "2" "189904004" "189904004" "subst" "2.45262E-5" "02329" "COL5A2_000161" "g.189904004G>C" "" "" "" "COL5A2(NM_000393.5):c.3919C>G (p.Q1307E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189039278G>C" "" "likely benign" "" "0000268451" "0" "10" "2" "189898847" "189898847" "subst" "0.0176638" "02329" "COL5A2_000158" "g.189898847G>A" "" "" "" "COL5A2(NM_000393.5):c.4449C>T (p.G1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189034121G>A" "" "benign" "" "0000268452" "0" "30" "2" "189898826" "189898826" "subst" "6.91023E-5" "02329" "COL5A2_000157" "g.189898826G>A" "" "" "" "COL5A2(NM_000393.5):c.4470C>T (p.G1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189034100G>A" "" "likely benign" "" "0000268453" "0" "10" "2" "189953508" "189953508" "subst" "0.141281" "02329" "COL5A2_000102" "g.189953508C>T" "" "" "" "COL5A2(NM_000393.5):c.568-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189088782C>T" "" "benign" "" "0000268454" "0" "10" "2" "189948696" "189948696" "subst" "0.143604" "02329" "COL5A2_000101" "g.189948696G>A" "" "" "" "COL5A2(NM_000393.5):c.852+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189083970G>A" "" "benign" "" "0000268455" "0" "10" "2" "189943819" "189943819" "subst" "0.00191335" "02329" "COL5A2_000100" "g.189943819G>A" "" "" "" "COL5A2(NM_000393.5):c.975C>T (p.P325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189079093G>A" "" "benign" "" "0000270475" "0" "10" "2" "189943304" "189943304" "subst" "0.0173068" "02326" "COL5A2_000099" "g.189943304G>A" "" "" "" "COL5A2(NM_000393.5):c.1006-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189078578G>A" "" "benign" "" "0000270476" "0" "10" "2" "189940142" "189940142" "subst" "0.018302" "02326" "COL5A2_000067" "g.189940142T>G" "" "" "" "COL5A2(NM_000393.5):c.1081A>C (p.(Met361Leu), p.M361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189075416T>G" "" "benign" "" "0000270477" "0" "30" "2" "189932953" "189932953" "subst" "0.00186209" "02326" "COL5A2_000096" "g.189932953G>A" "" "" "" "COL5A2(NM_000393.3):c.1301C>T (p.(Thr434Met)), COL5A2(NM_000393.4):c.1301C>T (p.T434M), COL5A2(NM_000393.5):c.1301C>T (p.T434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189068227G>A" "" "likely benign" "" "0000270478" "0" "10" "2" "189932764" "189932764" "subst" "0.0319492" "02326" "COL5A2_000022" "g.189932764G>A" "" "" "" "COL5A2(NM_000393.5):c.1378C>T (p.P460S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189068038G>A" "" "benign" "" "0000270479" "0" "30" "2" "189929400" "189929400" "subst" "0.00126613" "02326" "COL5A2_000090" "g.189929400G>C" "" "" "" "COL5A2(NM_000393.5):c.1618-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189064674G>C" "" "likely benign" "" "0000270480" "0" "70" "2" "189929308" "189929308" "subst" "0" "02326" "COL5A2_000089" "g.189929308C>T" "" "" "" "COL5A2(NM_000393.5):c.1691G>A (p.G564E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189064582C>T" "" "likely pathogenic" "" "0000270481" "0" "10" "2" "189925516" "189925516" "subst" "0.00164286" "02326" "COL5A2_000087" "g.189925516C>T" "" "" "" "COL5A2(NM_000393.4):c.2032-7G>A, COL5A2(NM_000393.5):c.2032-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189060790C>T" "" "benign" "" "0000270482" "0" "10" "2" "189923642" "189923642" "del" "0" "02326" "COL5A2_000083" "g.189923642del" "" "" "" "COL5A2(NM_000393.5):c.2086-12delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189058916del" "" "benign" "" "0000270483" "0" "10" "2" "189923641" "189923642" "del" "0" "02326" "COL5A2_000085" "g.189923641_189923642del" "" "" "" "COL5A2(NM_000393.3):c.2086-13_2086-12delAA, COL5A2(NM_000393.5):c.2086-13_2086-12delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189058915_189058916del" "" "benign" "" "0000270485" "0" "30" "2" "189922035" "189922038" "del" "0" "02326" "COL5A2_000082" "g.189922035_189922038del" "" "" "" "COL5A2(NM_000393.5):c.2337+8_2337+11delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189057309_189057312del" "" "likely benign" "" "0000270486" "0" "50" "2" "189918668" "189918668" "subst" "0" "02326" "COL5A2_000081" "g.189918668G>C" "" "" "" "COL5A2(NM_000393.5):c.2452C>G (p.P818A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189053942G>C" "" "VUS" "" "0000270487" "0" "30" "2" "189918622" "189918622" "subst" "0.0171841" "02326" "COL5A2_000018" "g.189918622G>A" "" "" "" "COL5A2(NM_000393.5):c.2498C>T (p.P833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189053896G>A" "" "likely benign" "" "0000270488" "0" "30" "2" "189917758" "189917758" "subst" "0.00698206" "02326" "COL5A2_000079" "g.189917758T>C" "" "" "" "COL5A2(NM_000393.5):c.2554-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189053032T>C" "" "likely benign" "" "0000270489" "0" "10" "2" "189917433" "189917433" "subst" "0.0182459" "02326" "COL5A2_000076" "g.189917433G>T" "" "" "" "COL5A2(NM_000393.5):c.2715+42C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189052707G>T" "" "benign" "" "0000270490" "0" "50" "2" "189974959" "189974959" "subst" "0" "02326" "COL5A2_000107" "g.189974959G>A" "" "" "" "COL5A2(NM_000393.5):c.314C>T (p.T105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189110233G>A" "" "VUS" "" "0000270492" "0" "70" "2" "189907963" "189907963" "subst" "0.000117923" "02326" "COL5A2_000162" "g.189907963C>T" "" "" "" "COL5A2(NM_000393.5):c.3385G>A (p.D1129N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189043237C>T" "" "likely pathogenic" "" "0000270493" "0" "10" "2" "189904234" "189904234" "subst" "0.00491194" "02326" "COL5A2_000003" "g.189904234G>C" "" "" "" "COL5A2(NM_000393.5):c.3689C>G (p.T1230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189039508G>C" "" "benign" "" "0000270494" "0" "10" "2" "189901554" "189901554" "subst" "0.0128881" "02326" "COL5A2_000160" "g.189901554C>G" "" "" "" "COL5A2(NM_000393.5):c.3926-25G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189036828C>G" "" "benign" "" "0000343913" "0" "50" "2" "189899700" "189899700" "subst" "0" "02327" "COL5A2_000112" "g.189899700T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189034974T>C" "" "VUS" "" "0000346231" "0" "50" "2" "189923601" "189923601" "subst" "8.12783E-6" "02327" "COL5A2_000114" "g.189923601C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189058875C>T" "" "VUS" "" "0000348126" "0" "50" "2" "189910582" "189910582" "subst" "0" "02327" "COL5A2_000113" "g.189910582G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189045856G>A" "" "VUS" "" "0000438840" "0" "70" "2" "189904129" "189904129" "subst" "6.90524E-5" "01164" "COL5A2_000117" "g.189904129T>C" "" "" "" "" "ACMG grading: PM1,PP5,PP3,PM2; Geckinli ; 2016. EJHG 05: 140 In Patient with EDS. Homozygosity mapping with whole exome sequencing identified a homozygous missense mutation c.3794A>G (p.Asp1265Gly) in COL5A2 exon 51, affecting C-terminal propeptide domain. Her parents were heterozygous carriers for the same substitution. Abstract book ESHG 2015" "Germline" "" "rs200325397" "0" "" "" "g.189039403T>C" "" "likely pathogenic" "ACMG" "0000513725" "0" "30" "2" "189898846" "189898846" "subst" "0.000369994" "01943" "COL5A2_000118" "g.189898846C>T" "" "" "" "COL5A2(NM_000393.4):c.4450G>A (p.G1484S), COL5A2(NM_000393.5):c.4450G>A (p.G1484S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189034120C>T" "" "likely benign" "" "0000513726" "0" "30" "2" "189898846" "189898846" "subst" "0.000369994" "02326" "COL5A2_000118" "g.189898846C>T" "" "" "" "COL5A2(NM_000393.4):c.4450G>A (p.G1484S), COL5A2(NM_000393.5):c.4450G>A (p.G1484S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189034120C>T" "" "likely benign" "" "0000513727" "0" "30" "2" "189898846" "189898846" "subst" "0.000369994" "02329" "COL5A2_000118" "g.189898846C>T" "" "" "" "COL5A2(NM_000393.4):c.4450G>A (p.G1484S), COL5A2(NM_000393.5):c.4450G>A (p.G1484S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189034120C>T" "" "likely benign" "" "0000513728" "0" "30" "2" "189898962" "189898962" "subst" "6.53104E-5" "02329" "COL5A2_000119" "g.189898962T>C" "" "" "" "COL5A2(NM_000393.5):c.4354-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189034236T>C" "" "likely benign" "" "0000513729" "0" "30" "2" "189904086" "189904086" "subst" "0.000402122" "02326" "COL5A2_000115" "g.189904086A>G" "" "" "" "COL5A2(NM_000393.4):c.3837T>C (p.I1279=), COL5A2(NM_000393.5):c.3837T>C (p.I1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189039360A>G" "" "likely benign" "" "0000513730" "0" "10" "2" "189904086" "189904086" "subst" "0.000402122" "02329" "COL5A2_000115" "g.189904086A>G" "" "" "" "COL5A2(NM_000393.4):c.3837T>C (p.I1279=), COL5A2(NM_000393.5):c.3837T>C (p.I1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189039360A>G" "" "benign" "" "0000513731" "0" "10" "2" "189904233" "189904233" "subst" "0.106457" "02329" "COL5A2_000010" "g.189904233T>G" "" "" "" "COL5A2(NM_000393.5):c.3690A>C (p.T1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189039507T>G" "" "benign" "" "0000513732" "0" "30" "2" "189907869" "189907869" "subst" "0.000527113" "02326" "COL5A2_000121" "g.189907869T>A" "" "" "" "COL5A2(NM_000393.4):c.3471+8A>T, COL5A2(NM_000393.5):c.3471+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189043143T>A" "" "likely benign" "" "0000513733" "0" "30" "2" "189910510" "189910510" "subst" "0.000130031" "02326" "COL5A2_000122" "g.189910510T>C" "" "" "" "COL5A2(NM_000393.5):c.3309+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189045784T>C" "" "likely benign" "" "0000513734" "0" "50" "2" "189916926" "189916926" "subst" "8.52806E-5" "02326" "COL5A2_000123" "g.189916926G>A" "" "" "" "COL5A2(NM_000393.5):c.2741C>T (p.A914V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189052200G>A" "" "VUS" "" "0000513735" "0" "30" "2" "189917736" "189917736" "subst" "0.00246767" "02326" "COL5A2_000078" "g.189917736G>A" "" "" "" "COL5A2(NM_000393.4):c.2562C>T (p.D854=), COL5A2(NM_000393.5):c.2562C>T (p.D854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189053010G>A" "" "likely benign" "" "0000513737" "0" "30" "2" "189918642" "189918642" "subst" "0" "02329" "COL5A2_000124" "g.189918642A>G" "" "" "" "COL5A2(NM_000393.5):c.2478T>C (p.P826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189053916A>G" "" "likely benign" "" "0000513738" "0" "50" "2" "189918907" "189918907" "subst" "6.09578E-5" "01943" "COL5A2_000125" "g.189918907G>A" "" "" "" "COL5A2(NM_000393.4):c.2423C>T (p.P808L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189054181G>A" "" "VUS" "" "0000513739" "0" "30" "2" "189921758" "189921758" "subst" "0.000154428" "01943" "COL5A2_000126" "g.189921758A>G" "" "" "" "COL5A2(NM_000393.4):c.2338-6T>C, COL5A2(NM_000393.5):c.2338-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189057032A>G" "" "likely benign" "" "0000513740" "0" "50" "2" "189922045" "189922045" "subst" "0" "02326" "COL5A2_000127" "g.189922045C>A" "" "" "" "COL5A2(NM_000393.5):c.2337+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189057319C>A" "" "VUS" "" "0000513741" "0" "30" "2" "189922085" "189922085" "subst" "4.06415E-6" "02326" "COL5A2_000128" "g.189922085T>C" "" "" "" "COL5A2(NM_000393.5):c.2298A>G (p.E766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189057359T>C" "" "likely benign" "" "0000513742" "0" "10" "2" "189922092" "189922092" "subst" "0.000747755" "02326" "COL5A2_000129" "g.189922092G>C" "" "" "" "COL5A2(NM_000393.5):c.2291C>G (p.P764R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189057366G>C" "" "benign" "" "0000513743" "0" "30" "2" "189922168" "189922168" "subst" "0" "02329" "COL5A2_000130" "g.189922168C>A" "" "" "" "COL5A2(NM_000393.5):c.2230-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189057442C>A" "" "likely benign" "" "0000513744" "0" "30" "2" "189925516" "189925516" "subst" "0.00164286" "01943" "COL5A2_000087" "g.189925516C>T" "" "" "" "COL5A2(NM_000393.4):c.2032-7G>A, COL5A2(NM_000393.5):c.2032-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189060790C>T" "" "likely benign" "" "0000513745" "0" "50" "2" "189929388" "189929388" "subst" "1.62816E-5" "01943" "COL5A2_000131" "g.189929388C>T" "" "" "" "COL5A2(NM_000393.4):c.1618-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189064662C>T" "" "VUS" "" "0000513747" "0" "30" "2" "189932953" "189932953" "subst" "0.00186209" "01943" "COL5A2_000096" "g.189932953G>A" "" "" "" "COL5A2(NM_000393.3):c.1301C>T (p.(Thr434Met)), COL5A2(NM_000393.4):c.1301C>T (p.T434M), COL5A2(NM_000393.5):c.1301C>T (p.T434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189068227G>A" "" "likely benign" "" "0000513748" "0" "30" "2" "189953457" "189953457" "subst" "4.06141E-6" "01943" "COL5A2_000132" "g.189953457T>C" "" "" "" "COL5A2(NM_000393.4):c.609A>G (p.G203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189088731T>C" "" "likely benign" "" "0000513749" "0" "30" "2" "189957066" "189957066" "subst" "7.14508E-5" "02326" "COL5A2_000133" "g.189957066C>T" "" "" "" "COL5A2(NM_000393.4):c.537G>A (p.P179=), COL5A2(NM_000393.5):c.537G>A (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189092340C>T" "" "likely benign" "" "0000513750" "0" "30" "2" "189974943" "189974943" "subst" "0.000239906" "02326" "COL5A2_000134" "g.189974943A>G" "" "" "" "COL5A2(NM_000393.4):c.322+8T>C, COL5A2(NM_000393.5):c.322+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189110217A>G" "" "likely benign" "" "0000513751" "0" "50" "2" "189974956" "189974957" "ins" "0" "02326" "COL5A2_000135" "g.189974956_189974957insGTT" "" "" "" "COL5A2(NM_000393.5):c.317_318insACA (p.N106delinsKH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189110230_189110231insGTT" "" "VUS" "" "0000513752" "0" "30" "2" "189975012" "189975012" "subst" "0.00172345" "01943" "COL5A2_000109" "g.189975012C>T" "" "" "" "COL5A2(NM_000393.4):c.261G>A (p.T87=), COL5A2(NM_000393.5):c.261G>A (p.(Thr87=), p.T87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189110286C>T" "" "likely benign" "" "0000607347" "0" "50" "2" "189899700" "189899700" "subst" "0.000740253" "01943" "COL5A2_000009" "g.189899700T>A" "" "" "" "COL5A2(NM_000393.3):c.4295A>T (p.(Asp1432Val)), COL5A2(NM_000393.4):c.4295A>T (p.D1432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189034974T>A" "" "VUS" "" "0000607348" "0" "10" "2" "189899755" "189899755" "subst" "0.00140686" "01943" "COL5A2_000012" "g.189899755C>T" "" "" "" "COL5A2(NM_000393.4):c.4240G>A (p.D1414N), COL5A2(NM_000393.5):c.4240G>A (p.D1414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189035029C>T" "" "benign" "" "0000607349" "0" "30" "2" "189907869" "189907869" "subst" "0.000527113" "01943" "COL5A2_000121" "g.189907869T>A" "" "" "" "COL5A2(NM_000393.4):c.3471+8A>T, COL5A2(NM_000393.5):c.3471+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189043143T>A" "" "likely benign" "" "0000607350" "0" "30" "2" "189917514" "189917514" "subst" "0" "01943" "COL5A2_000139" "g.189917514A>T" "" "" "" "COL5A2(NM_000393.4):c.2676T>A (p.V892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189052788A>T" "" "likely benign" "" "0000620905" "0" "50" "2" "189909952" "189909952" "subst" "0.000371223" "01943" "COL5A2_000138" "g.189909952G>A" "" "" "" "COL5A2(NM_000393.4):c.3316C>T (p.R1106W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189045226G>A" "" "VUS" "" "0000620906" "0" "30" "2" "190044256" "190044256" "subst" "0.000329802" "02326" "COL5A2_000140" "g.190044256T>C" "" "" "" "COL5A2(NM_000393.4):c.75A>G (p.K25=), COL5A2(NM_000393.5):c.75A>G (p.K25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189179530T>C" "" "likely benign" "" "0000620907" "0" "50" "2" "190044330" "190044330" "subst" "3.53304E-5" "01943" "COL5A2_000141" "g.190044330T>C" "" "" "" "COL5A2(NM_000393.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189179604T>C" "" "VUS" "" "0000650369" "1" "30" "2" "189897631" "189897631" "subst" "0" "03575" "COL5A2_000142" "g.189897631C>T" "207/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "207 heterozygous; {DB:CLININrs13914}" "Germline" "" "rs13914" "0" "" "" "g.189032905C>T" "" "likely benign" "" "0000650370" "1" "50" "2" "189907957" "189907957" "subst" "0" "03575" "COL5A2_000143" "g.189907957C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs747946828}" "Germline" "" "rs747946828" "0" "" "" "g.189043231C>A" "" "VUS" "" "0000650371" "1" "30" "2" "189918622" "189918622" "subst" "0.0171841" "03575" "COL5A2_000018" "g.189918622G>A" "64/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "64 heterozygous; {DB:CLININrs116298748}" "Germline" "" "rs116298748" "0" "" "" "g.189053896G>A" "" "likely benign" "" "0000650372" "1" "30" "2" "189932764" "189932764" "subst" "0.0319492" "03575" "COL5A2_000022" "g.189932764G>A" "99/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "99 heterozygous; {DB:CLININrs35830636}" "Germline" "" "rs35830636" "0" "" "" "g.189068038G>A" "" "likely benign" "" "0000650373" "1" "30" "2" "189940142" "189940142" "subst" "0.018302" "03575" "COL5A2_000067" "g.189940142T>G" "42/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous; {DB:CLININrs76148000}" "Germline" "" "rs76148000" "0" "" "" "g.189075416T>G" "" "likely benign" "" "0000650374" "1" "70" "2" "189968997" "189968997" "subst" "0" "03575" "COL5A2_000144" "g.189968997C>T" "2/2768 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs863223501}" "Germline" "" "rs863223501" "0" "" "" "g.189104271C>T" "" "likely pathogenic" "" "0000654471" "0" "50" "2" "189901349" "189901349" "subst" "4.07043E-6" "01943" "COL5A2_000145" "g.189901349C>T" "" "" "" "COL5A2(NM_000393.4):c.4106G>A (p.G1369E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189036623C>T" "" "VUS" "" "0000654472" "0" "30" "2" "189904086" "189904086" "subst" "0.000402122" "01943" "COL5A2_000115" "g.189904086A>G" "" "" "" "COL5A2(NM_000393.4):c.3837T>C (p.I1279=), COL5A2(NM_000393.5):c.3837T>C (p.I1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189039360A>G" "" "likely benign" "" "0000654473" "0" "50" "2" "189963466" "189963466" "subst" "1.62537E-5" "01943" "COL5A2_000146" "g.189963466C>T" "" "" "" "COL5A2(NM_000393.4):c.389G>A (p.R130H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189098740C>T" "" "VUS" "" "0000660114" "0" "50" "2" "190044326" "190044326" "subst" "4.36952E-5" "01164" "COL5A2_000147" "g.190044326A>G" "" "" "" "" "" "Germline" "" "rs762874073" "0" "" "" "g.189179600A>G" "" "VUS" "" "0000663607" "1" "50" "2" "189899700" "189899700" "subst" "0.000740253" "00006" "COL5A2_000009" "g.189899700T>A" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.189034974T>A" "" "VUS" "" "0000663608" "2" "50" "2" "189899755" "189899755" "subst" "0.00140686" "00006" "COL5A2_000012" "g.189899755C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.189035029C>T" "" "VUS" "" "0000669580" "3" "30" "2" "189897631" "189897631" "subst" "0" "03575" "COL5A2_000142" "g.189897631C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs13914}" "Germline" "" "rs13914" "0" "" "" "g.189032905C>T" "" "likely benign" "" "0000669581" "3" "30" "2" "189918622" "189918622" "subst" "0.0171841" "03575" "COL5A2_000018" "g.189918622G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs116298748}" "Germline" "" "rs116298748" "0" "" "" "g.189053896G>A" "" "likely benign" "" "0000669582" "3" "30" "2" "189932764" "189932764" "subst" "0.0319492" "03575" "COL5A2_000022" "g.189932764G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs35830636}" "Germline" "" "rs35830636" "0" "" "" "g.189068038G>A" "" "likely benign" "" "0000669583" "3" "30" "2" "189940142" "189940142" "subst" "0.018302" "03575" "COL5A2_000067" "g.189940142T>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs76148000}" "Germline" "" "rs76148000" "0" "" "" "g.189075416T>G" "" "likely benign" "" "0000676421" "0" "30" "2" "189899663" "189899663" "subst" "1.62886E-5" "01943" "COL5A2_000148" "g.189899663G>C" "" "" "" "COL5A2(NM_000393.4):c.4332C>G (p.I1444M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676422" "0" "50" "2" "189915320" "189915320" "subst" "6.68413E-6" "02326" "COL5A2_000149" "g.189915320C>G" "" "" "" "COL5A2(NM_000393.5):c.3014G>C (p.G1005A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676423" "0" "30" "2" "189917736" "189917736" "subst" "0.00246767" "01943" "COL5A2_000078" "g.189917736G>A" "" "" "" "COL5A2(NM_000393.4):c.2562C>T (p.D854=), COL5A2(NM_000393.5):c.2562C>T (p.D854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676424" "0" "50" "2" "189950447" "189950447" "subst" "4.0621E-6" "01943" "COL5A2_000150" "g.189950447T>C" "" "" "" "COL5A2(NM_000393.4):c.742A>G (p.M248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688585" "0" "50" "2" "189910594" "189910594" "subst" "4.0623E-6" "02329" "COL5A2_000151" "g.189910594A>G" "" "" "" "COL5A2(NM_000393.5):c.3241T>C (p.S1081P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688586" "0" "50" "2" "189915389" "189915389" "subst" "0" "01943" "COL5A2_000152" "g.189915389G>A" "" "" "" "COL5A2(NM_000393.4):c.2945C>T (p.P982L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688587" "0" "30" "2" "189933587" "189933587" "subst" "0.000330799" "01943" "COL5A2_000153" "g.189933587C>T" "" "" "" "COL5A2(NM_000393.4):c.1182G>A (p.A394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688588" "0" "30" "2" "189974982" "189974982" "subst" "8.12618E-6" "02326" "COL5A2_000154" "g.189974982T>C" "" "" "" "COL5A2(NM_000393.5):c.291A>G (p.S97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000703289" "0" "11" "2" "0" "0" "subst" "0" "00085" "COL5A2_000015" "g.?" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "M58529:g.805A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703290" "0" "51" "2" "189974958" "189974958" "subst" "0" "00085" "COL5A2_000020" "g.189974958T>G" "" "" "" "" "" "Unknown" "" "rs4128539" "0" "" "" "" "" "VUS" "" "0000703291" "0" "11" "2" "189957140" "189957140" "subst" "3.92207E-5" "00085" "COL5A2_000069" "g.189957140G>A" "" "{PMID:Grelet et al., 2019:31829210}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703292" "0" "37" "2" "189957133" "189957133" "subst" "0" "03711" "COL5A2_000054" "g.189957133G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703293" "0" "11" "2" "189953479" "189953479" "subst" "3.65545E-5" "00085" "COL5A2_000065" "g.189953479G>T" "" "{PMID:Ma et al., 2019:31694554}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703294" "0" "99" "2" "189951460" "189951460" "subst" "0" "00085" "COL5A2_000061" "g.189951460C>T" "" "{PMID:Watanabe et al., 2016:27656288}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703295" "0" "79" "2" "189948754" "189948754" "subst" "0" "00085" "COL5A2_000063" "g.189948754C>T" "" "{PMID:Weerakkody et al., 2018:29543232}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703296" "0" "99" "2" "189948709" "189948709" "subst" "0" "03705" "COL5A2_000050" "g.189948709C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703297" "0" "79" "2" "189944703" "189944703" "subst" "0" "03706" "COL5A2_000046" "g.189944703C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703298" "0" "99" "2" "189943297" "189943297" "subst" "0" "01819" "COL5A2_000037" "g.189943297T>C" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703299" "0" "99" "2" "189943240" "189943240" "subst" "0" "01819" "COL5A2_000038" "g.189943240A>T" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703300" "0" "31" "2" "189940142" "189940142" "subst" "0.018302" "00085" "COL5A2_000067" "g.189940142T>G" "" "{PMID:Baschal et al., 2018:29930198}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000703301" "0" "99" "2" "189936782" "189936782" "subst" "0" "03705" "COL5A2_000060" "g.189936782C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703302" "0" "99" "2" "189933583" "189933583" "subst" "0" "01819" "COL5A2_000039" "g.189933583C>G" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703303" "0" "51" "2" "189932831" "189932831" "subst" "0" "00085" "COL5A2_000021" "g.189932831C>T" "" "" "" "" "" "Unknown" "" "rs2229495" "0" "" "" "" "" "VUS" "" "0000703304" "0" "51" "2" "189932764" "189932764" "subst" "0.0319492" "00085" "COL5A2_000022" "g.189932764G>A" "" "" "" "" "" "Unknown" "" "rs35830636" "0" "" "" "" "" "VUS" "" "0000703305" "0" "99" "2" "189932741" "189932741" "subst" "0" "01819" "COL5A2_000041" "g.189932741C>T" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703306" "0" "73" "2" "189931518" "189931518" "subst" "0" "03711" "COL5A2_000053" "g.189931518A>C" "" "{PMID:Weerakkody et al., 2016:27011056}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703307" "1" "11" "2" "189931144" "189931144" "subst" "0.0183101" "00085" "COL5A2_000007" "g.189931144A>G" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.1683T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703308" "0" "99" "2" "189929726" "189929726" "subst" "0" "00085" "COL5A2_000019" "g.189929726T>C" "" "{PMID:Malfait et al., 2005:15580559}" "" "NM_000393.2:c.1608+4A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703309" "0" "51" "2" "189927929" "189927929" "subst" "0" "00085" "COL5A2_000023" "g.189927929C>G" "" "" "" "" "" "Unknown" "" "rs1131425" "0" "" "" "" "" "VUS" "" "0000703310" "0" "51" "2" "189927899" "189927899" "subst" "0" "00085" "COL5A2_000024" "g.189927899C>T" "" "" "" "" "" "Unknown" "" "rs1131426" "0" "" "" "" "" "VUS" "" "0000703311" "0" "51" "2" "189927756" "189927756" "subst" "0" "00085" "COL5A2_000025" "g.189927756C>G" "" "" "" "" "" "Unknown" "" "rs1131427" "0" "" "" "" "" "VUS" "" "0000703312" "0" "51" "2" "189927739" "189927739" "subst" "0" "00085" "COL5A2_000026" "g.189927739C>T" "" "" "" "" "" "Unknown" "" "rs1131428" "0" "" "" "" "" "VUS" "" "0000703313" "0" "99" "2" "189927655" "189927655" "subst" "0" "03705" "COL5A2_000051" "g.189927655A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703314" "0" "99" "2" "189927640" "189927646" "del" "0" "00085" "COL5A2_000004" "g.189927640_189927646del" "" "{PMID:Michalickova et al., 1998:9425231}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703315" "0" "99" "2" "189927635" "189927635" "subst" "0" "01819" "COL5A2_000040" "g.189927635C>T" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703316" "0" "99" "2" "189927621" "189927621" "subst" "0" "01819" "COL5A2_000042" "g.189927621T>C" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703317" "0" "11" "2" "189927592" "189927592" "subst" "0.000484279" "00085" "COL5A2_000070" "g.189927592G>A" "" "{PMID:Chen et al., 2020:32161841}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703318" "0" "99" "2" "189927591" "189927591" "subst" "0" "03705" "COL5A2_000048" "g.189927591C>T" "" "{PMID:Ritelli et al., 2013:23587214}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703319" "0" "99" "2" "189926287" "189926287" "subst" "0" "00085" "COL5A2_000005" "g.189926287C>A" "" "{PMID:Michalickova et al., 1998:9425231}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703320" "0" "11" "2" "189923156" "189923156" "subst" "2.03156E-5" "03711" "COL5A2_000052" "g.189923156T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703321" "0" "51" "2" "189922120" "189922120" "subst" "2.84373E-5" "00085" "COL5A2_000027" "g.189922120T>G" "" "" "" "" "" "Unknown" "" "rs34395097" "0" "" "" "" "" "VUS" "" "0000703322" "0" "97" "2" "189922044" "189922044" "subst" "0" "00085" "COL5A2_000064" "g.189922044A>T" "" "{PMID:Li et al., 2016:27975164}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703323" "0" "51" "2" "189921714" "189921714" "subst" "0.000231536" "00085" "COL5A2_000028" "g.189921714T>G" "" "" "" "" "" "Unknown" "" "rs35860166" "0" "" "" "" "" "VUS" "" "0000703324" "2" "11" "2" "189918622" "189918622" "subst" "0.0171841" "00085" "COL5A2_000018" "g.189918622G>A" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.2646C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703325" "0" "99" "2" "189918619" "189918619" "subst" "0" "03705" "COL5A2_000047" "g.189918619A>G" "" "{PMID:Ritelli et al., 2013:23587214}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703326" "11" "97" "2" "189918182" "189918182" "subst" "0" "03705" "COL5A2_000057" "g.189918182G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703327" "0" "99" "2" "189918148" "189918148" "del" "0" "00085" "COL5A2_000016" "g.189918148del" "" "{PMID:Malfait et al., 2005:15580559}" "" "NM_000393.2:c.2544+2delT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703328" "0" "33" "2" "189916131" "189916131" "subst" "0.000138187" "00085" "COL5A2_000071" "g.189916131G>C" "" "{PMID:Fang et al., 2017:28855619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000703329" "0" "59" "2" "189916116" "189916116" "dup" "0" "00085" "COL5A2_000029" "g.189916116dup" "" "" "" "" "" "Unknown" "" "rs34303356" "0" "" "" "" "" "pathogenic" "" "0000703330" "0" "51" "2" "189916110" "189916110" "subst" "0.000650153" "00085" "COL5A2_000031" "g.189916110C>G" "" "" "" "" "" "Unknown" "" "rs6434313" "0" "" "" "" "" "VUS" "" "0000703331" "0" "99" "2" "189914182" "189914182" "subst" "0" "01819" "COL5A2_000043" "g.189914182T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703332" "0" "59" "2" "189914166" "189914166" "dup" "0" "00085" "COL5A2_000032" "g.189914166dup" "" "" "" "" "" "Unknown" "" "rs34945445" "0" "" "" "" "" "pathogenic" "" "0000703333" "0" "99" "2" "189914111" "189914116" "del" "0" "01819" "COL5A2_000044" "g.189914111_189914116del" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703334" "0" "99" "2" "189912990" "189912990" "subst" "0" "00085" "COL5A2_000017" "g.189912990T>C" "" "{PMID:Malfait et al., 2005:15580559}" "" "NM_000393.2:c.3139-2A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703335" "0" "79" "2" "189910560" "189910560" "subst" "8.12466E-6" "00085" "COL5A2_000062" "g.189910560C>T" "" "{PMID:Weerakkody et al., 2018:29543232}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703336" "0" "59" "2" "189909920" "189909920" "dup" "0" "00085" "COL5A2_000033" "g.189909920dup" "" "" "" "" "" "Unknown" "" "rs35148953" "0" "" "" "" "" "pathogenic" "" "0000703337" "0" "11" "2" "189907960" "189907960" "subst" "0" "00085" "COL5A2_000072" "g.189907960T>C" "" "{PMID:Fang et al., 2017:28855619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703338" "0" "51" "2" "189907937" "189907937" "subst" "0" "00085" "COL5A2_000034" "g.189907937G>A" "" "" "" "" "" "Unknown" "" "rs6434312" "0" "" "" "" "" "VUS" "" "0000703339" "0" "99" "2" "189907911" "189907911" "subst" "4.06676E-6" "00085" "COL5A2_000001" "g.189907911C>G" "" "{PMID:Mitchell et al., 2009:19370768}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703340" "10" "99" "2" "189907903" "189907903" "subst" "4.06788E-6" "00085" "COL5A2_000006" "g.189907903C>G" "" "{PMID:Richards et al., 1998:9783710}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703341" "0" "99" "2" "189907903" "189907903" "subst" "0" "03711" "COL5A2_000055" "g.189907903C>A" "" "{PMID:Weerakkody et al., 2016:27011056}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703342" "0" "99" "2" "189906419" "189906419" "subst" "0" "03705" "COL5A2_000049" "g.189906419C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703343" "0" "99" "2" "189906320" "189906320" "subst" "0" "01819" "COL5A2_000045" "g.189906320C>T" "" "{PMID:Symoens et al., 2012:22696272}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703344" "0" "99" "2" "189904279" "189904279" "subst" "0" "02120" "COL5A2_000059" "g.189904279C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703345" "0" "11" "2" "189904235" "189904235" "subst" "1.22217E-5" "00085" "COL5A2_000068" "g.189904235T>A" "" "{PMID:Martin et al., 2006:17053184}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703346" "0" "11" "2" "189904234" "189904234" "subst" "0.00491194" "00085" "COL5A2_000003" "g.189904234G>C" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703347" "0" "11" "2" "189904233" "189904233" "subst" "0.106457" "00085" "COL5A2_000010" "g.189904233T>G" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.3838A>C" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703348" "0" "11" "2" "189904203" "189904203" "subst" "0.10518" "00085" "COL5A2_000011" "g.189904203A>G" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.3868T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703349" "0" "11" "2" "189904067" "189904067" "subst" "0" "00085" "COL5A2_000073" "g.189904067C>T" "" "{PMID:Fang et al., 2017:28855619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703350" "0" "51" "2" "189901486" "189901486" "subst" "2.85158E-5" "00085" "COL5A2_000035" "g.189901486T>G" "" "" "" "" "" "Unknown" "" "rs1131429" "0" "" "" "" "" "VUS" "" "0000703351" "0" "15" "2" "189899755" "189899755" "subst" "0.00140686" "00085" "COL5A2_000012" "g.189899755C>T" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.4388G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703352" "0" "11" "2" "189899700" "189899700" "subst" "0.000740253" "00085" "COL5A2_000009" "g.189899700T>A" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.4443A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703353" "0" "99" "2" "189899697" "189899697" "del" "0" "00085" "COL5A2_000014" "g.189899697del" "" "{PMID:Malfait et al., 2005:15580559}" "" "NM_000393.2:c.4289delT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703354" "0" "53" "2" "189898934" "189898934" "subst" "6.51174E-5" "03714" "COL5A2_000058" "g.189898934A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703355" "0" "51" "2" "189898843" "189898843" "subst" "0" "00085" "COL5A2_000036" "g.189898843T>A" "" "" "" "" "" "Unknown" "" "rs11553463" "0" "" "" "" "" "VUS" "" "0000703356" "0" "33" "2" "189898828" "189898828" "subst" "4.06474E-6" "00085" "COL5A2_000056" "g.189898828C>T" "" "{PMID:Ziganshin et al., 2015:26188975}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000703357" "0" "71" "2" "189898800" "189898800" "subst" "0" "00085" "COL5A2_000066" "g.189898800A>G" "" "{PMID:Wang et al., 2018:30115950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703358" "0" "11" "2" "189898498" "189898498" "subst" "0" "00085" "COL5A2_000013" "g.189898498C>T" "" "{PMID:Grond-Ginsbach et al., 2002:11940702}" "" "NM_000393.2:c.4946G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000712970" "0" "50" "2" "189907960" "189907960" "subst" "0" "01741" "COL5A2_000166" "g.189907960T>G" "" "" "" "" "variant with pathogenic tendency" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000718345" "0" "30" "2" "189899634" "189899634" "subst" "0" "02329" "COL5A2_000167" "g.189899634G>C" "" "" "" "COL5A2(NM_000393.5):c.4353+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718346" "0" "30" "2" "189904086" "189904086" "subst" "0.000402122" "02327" "COL5A2_000115" "g.189904086A>G" "" "" "" "COL5A2(NM_000393.4):c.3837T>C (p.I1279=), COL5A2(NM_000393.5):c.3837T>C (p.I1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718347" "0" "30" "2" "189908001" "189908001" "subst" "0.000874463" "02326" "COL5A2_000168" "g.189908001G>A" "" "" "" "COL5A2(NM_000393.5):c.3364-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718348" "0" "30" "2" "189921758" "189921758" "subst" "0.000154428" "02326" "COL5A2_000126" "g.189921758A>G" "" "" "" "COL5A2(NM_000393.4):c.2338-6T>C, COL5A2(NM_000393.5):c.2338-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718349" "0" "30" "2" "189974943" "189974943" "subst" "0.000239906" "01943" "COL5A2_000134" "g.189974943A>G" "" "" "" "COL5A2(NM_000393.4):c.322+8T>C, COL5A2(NM_000393.5):c.322+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718350" "0" "30" "2" "190044256" "190044256" "subst" "0.000329802" "01943" "COL5A2_000140" "g.190044256T>C" "" "" "" "COL5A2(NM_000393.4):c.75A>G (p.K25=), COL5A2(NM_000393.5):c.75A>G (p.K25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734962" "0" "90" "2" "189912934" "189923620" "del" "0" "04004" "COL5A2_000169" "g.(189910634_189912934)_(189923620_189925455)del" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "2085_3201del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000734964" "0" "90" "2" "189949911" "189949911" "subst" "0" "04004" "COL5A2_000170" "g.189949911C>A" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734965" "0" "90" "2" "189944704" "189944704" "subst" "0" "04004" "COL5A2_000171" "g.189944704C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "" "0000734967" "0" "90" "2" "189931224" "189931224" "subst" "0" "04004" "COL5A2_000172" "g.189931224C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734969" "0" "90" "2" "189929363" "189929363" "subst" "4.06464E-6" "04004" "COL5A2_000173" "g.189929363C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734970" "0" "90" "2" "189927591" "189927591" "subst" "0" "04004" "COL5A2_000048" "g.189927591C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734972" "0" "90" "2" "189926304" "189926304" "subst" "0" "04004" "COL5A2_000174" "g.189926304C>A" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "" "0000734973" "0" "90" "2" "189926287" "189926287" "subst" "0" "04004" "COL5A2_000005" "g.189926287C>A" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734975" "0" "90" "2" "189923190" "189923190" "subst" "0" "04004" "COL5A2_000175" "g.189923190C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734977" "0" "90" "2" "189918149" "189918149" "subst" "0" "04004" "COL5A2_000176" "g.189918149C>T" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000734979" "0" "90" "2" "189907884" "189907884" "subst" "0" "04004" "COL5A2_000177" "g.189907884C>A" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000800233" "0" "30" "2" "189899755" "189899755" "subst" "0.00140686" "02329" "COL5A2_000012" "g.189899755C>T" "" "" "" "COL5A2(NM_000393.4):c.4240G>A (p.D1414N), COL5A2(NM_000393.5):c.4240G>A (p.D1414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800234" "0" "50" "2" "189910527" "189910527" "subst" "4.46915E-5" "01943" "COL5A2_000164" "g.189910527G>A" "" "" "" "COL5A2(NM_000393.4):c.3308C>T (p.P1103L), COL5A2(NM_000393.5):c.3308C>T (p.P1103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800235" "0" "50" "2" "189914104" "189914104" "subst" "0" "01943" "COL5A2_000178" "g.189914104G>A" "" "" "" "COL5A2(NM_000393.4):c.3116C>T (p.S1039F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800236" "0" "30" "2" "189916110" "189916110" "subst" "0.000650153" "02326" "COL5A2_000031" "g.189916110C>G" "" "" "" "COL5A2(NM_000393.5):c.2867G>C (p.R956P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800237" "0" "30" "2" "189916190" "189916190" "subst" "0.000228749" "01943" "COL5A2_000179" "g.189916190C>T" "" "" "" "COL5A2(NM_000393.4):c.2787G>A (p.A929=), COL5A2(NM_000393.5):c.2787G>A (p.A929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800238" "0" "30" "2" "189943779" "189943779" "subst" "3.66856E-5" "02329" "COL5A2_000180" "g.189943779G>A" "" "" "" "COL5A2(NM_000393.5):c.1005+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800239" "0" "30" "2" "189957066" "189957066" "subst" "7.14508E-5" "01943" "COL5A2_000133" "g.189957066C>T" "" "" "" "COL5A2(NM_000393.4):c.537G>A (p.P179=), COL5A2(NM_000393.5):c.537G>A (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839648" "0" "90" "2" "189917743" "189917743" "subst" "0" "03717" "COL5A2_000181" "g.189917743C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000849625" "0" "30" "2" "189899879" "189899879" "subst" "8.13048E-6" "02326" "COL5A2_000182" "g.189899879G>A" "" "" "" "COL5A2(NM_000393.5):c.4116C>T (p.F1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858218" "0" "30" "2" "189940104" "189940104" "subst" "0.00191792" "02326" "COL5A2_000097" "g.189940104A>G" "" "" "" "COL5A2(NM_000393.5):c.1104+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858219" "0" "30" "2" "189943819" "189943819" "subst" "0.00191335" "02326" "COL5A2_000100" "g.189943819G>A" "" "" "" "COL5A2(NM_000393.5):c.975C>T (p.P325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878064" "0" "70" "2" "189950489" "189950489" "subst" "0" "02544" "COL5A2_000193" "g.189950489C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.189085763C>T" "" "likely pathogenic" "" "0000878074" "0" "50" "2" "189904129" "189904129" "subst" "6.90524E-5" "02544" "COL5A2_000117" "g.189904129T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189039403T>C" "" "VUS" "" "0000878075" "0" "50" "2" "189951468" "189951468" "subst" "0" "02544" "COL5A2_000194" "g.189951468C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189086742C>A" "" "VUS" "" "0000878080" "0" "50" "2" "189923241" "189923241" "subst" "0" "02544" "COL5A2_000189" "g.189923241T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189058515T>C" "" "VUS" "" "0000878087" "0" "50" "2" "189904277" "189904277" "subst" "3.28396E-5" "02544" "COL5A2_000186" "g.189904277C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189039551C>T" "" "VUS" "" "0000878089" "0" "50" "2" "189929357" "189929357" "subst" "0" "02544" "COL5A2_000190" "g.189929357C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189064631C>T" "" "VUS" "" "0000878092" "20" "50" "2" "189906403" "189906403" "subst" "0" "02544" "COL5A2_000187" "g.189906403A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.189041677A>G" "" "VUS" "" "0000878110" "20" "50" "2" "189904042" "189904042" "subst" "1.22121E-5" "02544" "COL5A2_000185" "g.189904042C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.189039316C>T" "" "VUS" "" "0000878113" "0" "50" "2" "189957113" "189957113" "subst" "0" "02544" "COL5A2_000196" "g.189957113G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189092387G>C" "" "VUS" "" "0000878116" "0" "70" "2" "189950480" "189950480" "subst" "0" "02544" "COL5A2_000192" "g.189950480C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.189085754C>T" "" "likely pathogenic" "" "0000878143" "0" "70" "2" "189921763" "189921763" "subst" "0" "02544" "COL5A2_000188" "g.189921763A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.189057037A>C" "" "likely pathogenic" "" "0000878151" "10" "50" "2" "189953433" "189953433" "subst" "0" "02544" "COL5A2_000195" "g.189953433C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.189088707C>T" "" "VUS" "" "0000878177" "0" "70" "2" "189936800" "189936800" "subst" "0" "02544" "COL5A2_000191" "g.189936800C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189072074C>T" "" "likely pathogenic" "" "0000878188" "0" "70" "2" "189927591" "189927591" "subst" "0" "02544" "COL5A2_000048" "g.189927591C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189062865C>T" "" "likely pathogenic" "" "0000878204" "10" "50" "2" "189899785" "189899785" "subst" "0" "02544" "COL5A2_000184" "g.189899785T>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.189035059T>A" "" "VUS" "" "0000878206" "20" "50" "2" "190044330" "190044330" "subst" "3.53304E-5" "02544" "COL5A2_000141" "g.190044330T>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.189179604T>C" "" "VUS" "" "0000879051" "0" "55" "2" "189907949" "189907949" "subst" "0" "01741" "COL5A2_000197" "g.189907949A>G" "" "" "" "" "not in ClinVar, gnomAD, dbSNP or HGMD" "Germline" "" "" "0" "" "" "g.189043223A>G" "" "VUS" "ACMG" "0000884642" "0" "50" "2" "189915374" "189915374" "subst" "0" "02327" "COL5A2_000198" "g.189915374C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884643" "0" "30" "2" "189916878" "189916878" "subst" "4.06339E-6" "02326" "COL5A2_000199" "g.189916878G>A" "" "" "" "COL5A2(NM_000393.5):c.2769+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884644" "0" "30" "2" "189922169" "189922169" "subst" "0.000329437" "02326" "COL5A2_000200" "g.189922169A>T" "" "" "" "COL5A2(NM_000393.5):c.2230-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884645" "0" "30" "2" "189927881" "189927881" "subst" "1.21984E-5" "02326" "COL5A2_000201" "g.189927881T>C" "" "" "" "COL5A2(NM_000393.5):c.1869+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884646" "0" "30" "2" "189932953" "189932953" "subst" "0.00186209" "02329" "COL5A2_000096" "g.189932953G>A" "" "" "" "COL5A2(NM_000393.3):c.1301C>T (p.(Thr434Met)), COL5A2(NM_000393.4):c.1301C>T (p.T434M), COL5A2(NM_000393.5):c.1301C>T (p.T434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884647" "0" "10" "2" "189943266" "189943266" "subst" "0.00165723" "02326" "COL5A2_000202" "g.189943266C>G" "" "" "" "COL5A2(NM_000393.5):c.1035G>C (p.G345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000884648" "0" "30" "2" "189943771" "189943771" "subst" "0" "02326" "COL5A2_000203" "g.189943771A>G" "" "" "" "COL5A2(NM_000393.5):c.1005+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902327" "0" "30" "2" "189904004" "189904004" "subst" "2.45262E-5" "03779" "COL5A2_000161" "g.189904004G>C" "" "" "" "" "" "Unknown" "" "rs142814184" "0" "" "" "" "" "likely benign" "" "0000911491" "0" "50" "2" "189898840" "189898840" "subst" "4.06524E-6" "02326" "COL5A2_000204" "g.189898840C>G" "" "" "" "COL5A2(NM_000393.5):c.4456G>C (p.D1486H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911492" "0" "10" "2" "190044298" "190044298" "subst" "0.000755515" "02326" "COL5A2_000111" "g.190044298G>A" "" "" "" "COL5A2(NM_000393.5):c.33C>T (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918894" "0" "50" "2" "189904004" "189904004" "subst" "2.45262E-5" "04136" "COL5A2_000161" "g.189904004G>C" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.189039278G>C" "" "VUS" "" "0000918898" "0" "50" "2" "189907936" "189907936" "subst" "2.84534E-5" "04136" "COL5A2_000205" "g.189907936C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.189043210C>T" "" "VUS" "" "0000918899" "0" "50" "2" "189953447" "189953447" "subst" "0" "04136" "COL5A2_000206" "g.189953447G>C" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.189088721G>C" "" "VUS" "" "0000923540" "0" "30" "2" "189899798" "189899798" "subst" "0.000467464" "02326" "COL5A2_000207" "g.189899798C>T" "" "" "" "COL5A2(NM_000393.5):c.4197G>A (p.Q1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923541" "0" "50" "2" "189904094" "189904094" "subst" "0" "02329" "COL5A2_000208" "g.189904094T>C" "" "" "" "COL5A2(NM_000393.5):c.3829A>G (p.S1277G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923542" "0" "30" "2" "189908001" "189908001" "subst" "0.000874463" "02329" "COL5A2_000168" "g.189908001G>A" "" "" "" "COL5A2(NM_000393.5):c.3364-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923543" "0" "10" "2" "189917617" "189917617" "subst" "0.00231172" "02326" "COL5A2_000077" "g.189917617C>T" "" "" "" "COL5A2(NM_000393.5):c.2661+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923544" "0" "10" "2" "189923642" "189923642" "dup" "0" "02326" "COL5A2_000084" "g.189923642dup" "" "" "" "COL5A2(NM_000393.5):c.2086-12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923545" "0" "90" "2" "189927590" "189927590" "subst" "0" "02329" "COL5A2_000209" "g.189927590C>A" "" "" "" "COL5A2(NM_000393.5):c.1977+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927827" "0" "90" "2" "189926322" "189926322" "subst" "0" "04419" "COL5A2_000210" "g.189926322C>T" "" "{PMID:Xu et al., 2019:31517854}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.189061596C>T" "" "pathogenic" "other" "0000928453" "0" "30" "2" "189898826" "189898826" "subst" "6.91023E-5" "02326" "COL5A2_000157" "g.189898826G>A" "" "" "" "COL5A2(NM_000393.5):c.4470C>T (p.G1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928454" "0" "30" "2" "189914122" "189914122" "subst" "0.00243194" "02326" "COL5A2_000074" "g.189914122G>A" "" "" "" "COL5A2(NM_000393.5):c.3098C>T (p.P1033L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928455" "0" "30" "2" "189915296" "189915296" "subst" "0" "02327" "COL5A2_000211" "g.189915296G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928456" "0" "50" "2" "189927908" "189927908" "subst" "0" "02326" "COL5A2_000212" "g.189927908T>C" "" "" "" "COL5A2(NM_000393.5):c.1859A>G (p.K620R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928457" "0" "30" "2" "189940287" "189940287" "subst" "0" "02329" "COL5A2_000213" "g.189940287A>G" "" "" "" "COL5A2(NM_000393.5):c.1060-124T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928458" "0" "90" "2" "189944702" "189944702" "subst" "0" "02325" "COL5A2_000214" "g.189944702A>G" "" "" "" "COL5A2(NM_000393.5):c.960+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931502" "21" "77" "2" "189907929" "189907929" "subst" "0" "03524" "COL5A2_000215" "g.189907929C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.189043203C>T" "" "likely pathogenic (dominant)" "" "0000944672" "0" "30" "2" "189907963" "189907963" "subst" "0.000117923" "03779" "COL5A2_000162" "g.189907963C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs199802059" "0" "" "" "" "" "likely benign" "" "0000947666" "0" "10" "2" "189899755" "189899755" "subst" "0.00140686" "02326" "COL5A2_000012" "g.189899755C>T" "" "" "" "COL5A2(NM_000393.4):c.4240G>A (p.D1414N), COL5A2(NM_000393.5):c.4240G>A (p.D1414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947667" "0" "50" "2" "189918632" "189918632" "subst" "3.25349E-5" "02326" "COL5A2_000216" "g.189918632G>A" "" "" "" "COL5A2(NM_000393.5):c.2488C>T (p.R830W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947668" "0" "10" "2" "189931243" "189931243" "subst" "0.00135796" "02326" "COL5A2_000217" "g.189931243A>G" "" "" "" "COL5A2(NM_000393.5):c.1456-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961765" "0" "30" "2" "189916190" "189916190" "subst" "0.000228749" "02329" "COL5A2_000179" "g.189916190C>T" "" "" "" "COL5A2(NM_000393.4):c.2787G>A (p.A929=), COL5A2(NM_000393.5):c.2787G>A (p.A929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961766" "0" "30" "2" "189916844" "189916844" "subst" "0" "02329" "COL5A2_000218" "g.189916844C>T" "" "" "" "COL5A2(NM_000393.5):c.2769+54G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961767" "0" "30" "2" "189944945" "189944945" "subst" "0" "02329" "COL5A2_000219" "g.189944945C>G" "" "" "" "COL5A2(NM_000393.5):c.907-188G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961769" "0" "50" "2" "189957139" "189957139" "subst" "0" "02325" "COL5A2_000220" "g.189957139C>T" "" "" "" "COL5A2(NM_000393.5):c.464G>A (p.R155H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972040" "20" "55" "2" "189975115" "189975115" "subst" "0" "04669" "COL5A2_000221" "g.189975115A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189110389A>T" "" "VUS" "" "0000974823" "0" "30" "2" "189904005" "189904005" "subst" "0" "02329" "COL5A2_000222" "g.189904005C>T" "" "" "" "COL5A2(NM_000393.5):c.3918G>A (p.K1306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974824" "0" "30" "2" "189916458" "189916458" "subst" "0" "02329" "COL5A2_000223" "g.189916458G>A" "" "" "" "COL5A2(NM_000393.5):c.2770-251C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974825" "0" "30" "2" "189931456" "189931456" "subst" "0.00048771" "02326" "COL5A2_000092" "g.189931456G>T" "" "" "" "COL5A2(NM_000393.5):c.1454C>A (p.P485Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974826" "0" "30" "2" "189933029" "189933029" "subst" "2.04063E-5" "02329" "COL5A2_000224" "g.189933029A>G" "" "" "" "COL5A2(NM_000393.5):c.1258-33T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974827" "0" "50" "2" "189949935" "189949935" "subst" "9.55554E-5" "02329" "COL5A2_000225" "g.189949935G>A" "" "" "" "COL5A2(NM_000393.5):c.749C>T (p.P250L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992309" "0" "30" "2" "189899700" "189899700" "subst" "0.000740253" "01804" "COL5A2_000009" "g.189899700T>A" "" "" "" "COL5A2(NM_000393.3):c.4295A>T (p.(Asp1432Val)), COL5A2(NM_000393.4):c.4295A>T (p.D1432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992310" "0" "10" "2" "189899798" "189899798" "subst" "0.000467464" "02329" "COL5A2_000207" "g.189899798C>T" "" "" "" "COL5A2(NM_000393.5):c.4197G>A (p.Q1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992311" "0" "30" "2" "189899823" "189899823" "subst" "8.12962E-6" "01804" "COL5A2_000226" "g.189899823C>T" "" "" "" "COL5A2(NM_000393.3):c.4172G>A (p.(Arg1391His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992312" "0" "30" "2" "189906144" "189906144" "subst" "0" "02329" "COL5A2_000227" "g.189906144T>A" "" "" "" "COL5A2(NM_000393.5):c.3633+168A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992313" "0" "70" "2" "189917734" "189917734" "subst" "0" "01804" "COL5A2_000228" "g.189917734C>G" "" "" "" "COL5A2(NM_000393.3):c.2564G>C (p.(Gly855Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992314" "0" "50" "2" "189918634" "189918634" "subst" "4.0665E-6" "01804" "COL5A2_000229" "g.189918634G>T" "" "" "" "COL5A2(NM_000393.3):c.2486C>A (p.(Ser829Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992315" "0" "30" "2" "189921758" "189921758" "subst" "0.000154428" "02329" "COL5A2_000126" "g.189921758A>G" "" "" "" "COL5A2(NM_000393.4):c.2338-6T>C, COL5A2(NM_000393.5):c.2338-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992316" "0" "30" "2" "189923594" "189923594" "subst" "3.65687E-5" "01804" "COL5A2_000230" "g.189923594A>G" "" "" "" "COL5A2(NM_000393.3):c.2111T>C (p.(Val704Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992317" "0" "50" "2" "189927974" "189927974" "subst" "3.25526E-5" "01804" "COL5A2_000231" "g.189927974C>T" "" "" "" "COL5A2(NM_000393.3):c.1793G>A (p.(Arg598His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992318" "0" "30" "2" "189932953" "189932953" "subst" "0.00186209" "01804" "COL5A2_000096" "g.189932953G>A" "" "" "" "COL5A2(NM_000393.3):c.1301C>T (p.(Thr434Met)), COL5A2(NM_000393.4):c.1301C>T (p.T434M), COL5A2(NM_000393.5):c.1301C>T (p.T434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992319" "0" "50" "2" "189975055" "189975055" "subst" "0" "01804" "COL5A2_000232" "g.189975055T>C" "" "" "" "COL5A2(NM_000393.3):c.218A>G (p.(Lys73Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992320" "0" "50" "2" "190044276" "190044276" "subst" "0" "01804" "COL5A2_000233" "g.190044276C>T" "" "" "" "COL5A2(NM_000393.3):c.55G>A (p.(Gly19Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013594" "0" "70" "2" "189931509" "189931509" "subst" "0" "02325" "COL5A2_000234" "g.189931509C>G" "" "" "" "COL5A2(NM_000393.5):c.1402-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013595" "0" "50" "2" "189945747" "189945747" "subst" "4.0626E-6" "02325" "COL5A2_000235" "g.189945747G>A" "" "" "" "COL5A2(NM_000393.5):c.875C>T (p.A292V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013596" "0" "50" "2" "189974973" "189974973" "subst" "0" "02326" "COL5A2_000236" "g.189974973A>T" "" "" "" "COL5A2(NM_000393.5):c.300T>A (p.P100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024457" "0" "30" "2" "189898907" "189898907" "subst" "0.00196083" "02329" "COL5A2_000237" "g.189898907T>C" "" "" "" "COL5A2(NM_000393.5):c.4389A>G (p.(Glu1463=), p.E1463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024458" "0" "30" "2" "189904234" "189904234" "subst" "0.00491194" "02329" "COL5A2_000003" "g.189904234G>C" "" "" "" "COL5A2(NM_000393.5):c.3689C>G (p.T1230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024459" "0" "30" "2" "189917750" "189917750" "subst" "0" "02325" "COL5A2_000238" "g.189917750A>C" "" "" "" "COL5A2(NM_000393.5):c.2554-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024460" "0" "30" "2" "189917758" "189917758" "subst" "0.00698206" "02329" "COL5A2_000079" "g.189917758T>C" "" "" "" "COL5A2(NM_000393.5):c.2554-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024461" "0" "30" "2" "189975075" "189975075" "subst" "0.00531898" "02329" "COL5A2_000239" "g.189975075A>G" "" "" "" "COL5A2(NM_000393.5):c.198T>C (p.N66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030885" "0" "70" "2" "189927646" "189927646" "subst" "0" "03779" "COL5A2_000240" "g.189927646T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001032863" "0" "10" "2" "189898907" "189898907" "subst" "0.00196083" "01804" "COL5A2_000237" "g.189898907T>C" "" "" "" "COL5A2(NM_000393.5):c.4389A>G (p.(Glu1463=), p.E1463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032864" "0" "30" "2" "189917464" "189917464" "subst" "0.000130061" "02329" "COL5A2_000241" "g.189917464A>G" "" "" "" "COL5A2(NM_000393.5):c.2715+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032865" "0" "10" "2" "189940142" "189940142" "subst" "0.018302" "01804" "COL5A2_000067" "g.189940142T>G" "" "" "" "COL5A2(NM_000393.5):c.1081A>C (p.(Met361Leu), p.M361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032866" "0" "50" "2" "189975010" "189975010" "subst" "0.000138197" "02326" "COL5A2_000242" "g.189975010G>T" "" "" "" "COL5A2(NM_000393.5):c.263C>A (p.P88H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032867" "0" "10" "2" "189975012" "189975012" "subst" "0.00172345" "01804" "COL5A2_000109" "g.189975012C>T" "" "" "" "COL5A2(NM_000393.4):c.261G>A (p.T87=), COL5A2(NM_000393.5):c.261G>A (p.(Thr87=), p.T87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045793" "0" "10" "2" "189898907" "189898907" "subst" "0.00196083" "02326" "COL5A2_000237" "g.189898907T>C" "" "" "" "COL5A2(NM_000393.5):c.4389A>G (p.(Glu1463=), p.E1463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045794" "0" "30" "2" "189962059" "189962059" "subst" "6.4982E-5" "02326" "COL5A2_000243" "g.189962059A>G" "" "" "" "COL5A2(NM_000393.5):c.403-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COL5A2 ## Count = 309 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000002309" "00001229" "50" "97" "24138" "97" "24141" "c.97+24138_97+24141del" "r.(=)" "p.(=)" "" "" "" "0000129056" "00001229" "50" "1978" "-61" "1978" "-61" "c.1978-61T>C" "r.(=)" "p.(=)" "29i" "" "" "0000248298" "00001229" "10" "3411" "0" "3411" "0" "c.3411=" "r.(=)" "p.(Gly1137=)" "" "" "" "0000250008" "00001229" "10" "1535" "0" "1535" "0" "c.1535T>C" "r.(?)" "p.(Val512Ala)" "" "" "" "0000250010" "00001229" "10" "98" "-12" "98" "-12" "c.98-12T>G" "r.(=)" "p.(=)" "" "" "" "0000250033" "00001229" "10" "3411" "0" "3411" "0" "c.3411=" "r.(=)" "p.(Gly1137=)" "" "" "" "0000250082" "00001229" "10" "3720" "0" "3720" "0" "c.3720T>C" "r.(?)" "p.(Tyr1240=)" "" "" "" "0000250191" "00001229" "10" "1104" "15" "1104" "15" "c.1104+15T>C" "r.(=)" "p.(=)" "" "" "" "0000250192" "00001229" "10" "403" "-16" "403" "-16" "c.403-16T>A" "r.(=)" "p.(=)" "" "" "" "0000250868" "00001229" "10" "1535" "0" "1535" "0" "c.1535T>C" "r.(?)" "p.(Val512Ala)" "" "" "" "0000250870" "00001229" "10" "98" "-12" "98" "-12" "c.98-12T>G" "r.(=)" "p.(=)" "" "" "" "0000251777" "00001229" "30" "4392" "0" "4392" "0" "c.4392T>C" "r.(?)" "p.(Tyr1464=)" "" "" "" "0000251929" "00001229" "30" "1841" "0" "1841" "0" "c.1841T>A" "r.(?)" "p.(Met614Lys)" "" "" "" "0000252062" "00001229" "30" "3148" "-6" "3148" "-6" "c.3148-6T>C" "r.(=)" "p.(=)" "" "" "" "0000252745" "00001229" "50" "312" "0" "312" "0" "c.312T>A" "r.(?)" "p.(Asn104Lys)" "" "" "" "0000266992" "00001229" "10" "1311" "0" "1311" "0" "c.1311=" "r.(=)" "p.(Pro437=)" "" "" "" "0000266993" "00001229" "10" "315" "0" "315" "0" "c.315=" "r.(=)" "p.(Thr105=)" "" "" "" "0000268427" "00001229" "10" "1006" "-9" "1006" "-9" "c.1006-9C>T" "r.(=)" "p.(=)" "" "" "" "0000268428" "00001229" "10" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Met361Leu)" "" "" "" "0000268429" "00001229" "10" "1311" "0" "1311" "0" "c.1311=" "r.(=)" "p.(Pro437=)" "" "" "" "0000268430" "00001229" "10" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "" "" "0000268431" "00001229" "10" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "" "" "" "0000268432" "00001229" "30" "1454" "0" "1454" "0" "c.1454C>A" "r.(?)" "p.(Pro485Gln)" "" "" "" "0000268433" "00001229" "10" "1618" "-19" "1618" "-19" "c.1618-19C>G" "r.(=)" "p.(=)" "" "" "" "0000268434" "00001229" "10" "2032" "-7" "2032" "-7" "c.2032-7G>A" "r.(=)" "p.(=)" "" "" "" "0000268435" "00001229" "10" "2086" "-12" "2086" "-12" "c.2086-12del" "r.(=)" "p.(=)" "" "" "" "0000268436" "00001229" "10" "2086" "-13" "2086" "-12" "c.2086-13_2086-12del" "r.(=)" "p.(=)" "" "" "" "0000268437" "00001229" "10" "2086" "-12" "2086" "-12" "c.2086-12dup" "r.(=)" "p.(=)" "" "" "" "0000268439" "00001229" "10" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" "" "" "" "0000268440" "00001229" "10" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Asp854=)" "" "" "" "0000268441" "00001229" "30" "261" "0" "261" "0" "c.261G>A" "r.(?)" "p.(Thr87=)" "" "" "" "0000268442" "00001229" "10" "2661" "20" "2661" "20" "c.2661+20G>A" "r.(=)" "p.(=)" "" "" "" "0000268443" "00001229" "90" "2833" "0" "2833" "0" "c.2833G>A" "r.(?)" "p.(Gly945Arg)" "" "" "" "0000268444" "00001229" "30" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Pro1033Leu)" "" "" "" "0000268445" "00001229" "10" "315" "0" "315" "0" "c.315=" "r.(=)" "p.(Thr105=)" "" "" "" "0000268446" "00001229" "30" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "" "" "0000268447" "00001229" "30" "3341" "0" "3341" "0" "c.3341G>A" "r.(?)" "p.(Arg1114Gln)" "" "" "" "0000268448" "00001229" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Leu11=)" "" "" "" "0000268449" "00001229" "10" "370" "-16" "370" "-16" "c.370-16C>T" "r.(=)" "p.(=)" "" "" "" "0000268450" "00001229" "30" "3919" "0" "3919" "0" "c.3919C>G" "r.(?)" "p.(Gln1307Glu)" "" "" "" "0000268451" "00001229" "10" "4449" "0" "4449" "0" "c.4449C>T" "r.(?)" "p.(Gly1483=)" "" "" "" "0000268452" "00001229" "30" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(Gly1490=)" "" "" "" "0000268453" "00001229" "10" "568" "-10" "568" "-10" "c.568-10G>A" "r.(=)" "p.(=)" "" "" "" "0000268454" "00001229" "10" "852" "14" "852" "14" "c.852+14C>T" "r.(=)" "p.(=)" "" "" "" "0000268455" "00001229" "10" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(Pro325=)" "" "" "" "0000270475" "00001229" "10" "1006" "-9" "1006" "-9" "c.1006-9C>T" "r.(=)" "p.(=)" "" "" "" "0000270476" "00001229" "10" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Met361Leu)" "" "" "" "0000270477" "00001229" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "" "0000270478" "00001229" "10" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "" "" "0000270479" "00001229" "30" "1618" "-19" "1618" "-19" "c.1618-19C>G" "r.(=)" "p.(=)" "" "" "" "0000270480" "00001229" "70" "1691" "0" "1691" "0" "c.1691G>A" "r.(?)" "p.(Gly564Glu)" "" "" "" "0000270481" "00001229" "10" "2032" "-7" "2032" "-7" "c.2032-7G>A" "r.(=)" "p.(=)" "" "" "" "0000270482" "00001229" "10" "2086" "-12" "2086" "-12" "c.2086-12del" "r.(=)" "p.(=)" "" "" "" "0000270483" "00001229" "10" "2086" "-13" "2086" "-12" "c.2086-13_2086-12del" "r.(=)" "p.(=)" "" "" "" "0000270485" "00001229" "30" "2337" "8" "2337" "11" "c.2337+8_2337+11del" "r.(=)" "p.(=)" "" "" "" "0000270486" "00001229" "50" "2452" "0" "2452" "0" "c.2452C>G" "r.(?)" "p.(Pro818Ala)" "" "" "" "0000270487" "00001229" "30" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" "" "" "" "0000270488" "00001229" "30" "2554" "-14" "2554" "-14" "c.2554-14A>G" "r.(=)" "p.(=)" "" "" "" "0000270489" "00001229" "10" "2715" "42" "2715" "42" "c.2715+42C>A" "r.(=)" "p.(=)" "" "" "" "0000270490" "00001229" "50" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Thr105Ile)" "" "" "" "0000270492" "00001229" "70" "3385" "0" "3385" "0" "c.3385G>A" "r.(?)" "p.(Asp1129Asn)" "" "" "" "0000270493" "00001229" "10" "3689" "0" "3689" "0" "c.3689C>G" "r.(?)" "p.(Thr1230Arg)" "" "" "" "0000270494" "00001229" "10" "3926" "-25" "3926" "-25" "c.3926-25G>C" "r.(=)" "p.(=)" "" "" "" "0000343913" "00001229" "50" "4295" "0" "4295" "0" "c.4295A>G" "r.(?)" "p.(Asp1432Gly)" "" "" "" "0000346231" "00001229" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Gly702Arg)" "" "" "" "0000348126" "00001229" "50" "3253" "0" "3253" "0" "c.3253C>T" "r.(?)" "p.(Pro1085Ser)" "" "" "" "0000438840" "00001229" "70" "3794" "0" "3794" "0" "c.3794A>G" "r.(?)" "p.Asp1265Gly" "" "" "" "0000513725" "00001229" "30" "4450" "0" "4450" "0" "c.4450G>A" "r.(?)" "p.(Gly1484Ser)" "" "" "" "0000513726" "00001229" "30" "4450" "0" "4450" "0" "c.4450G>A" "r.(?)" "p.(Gly1484Ser)" "" "" "" "0000513727" "00001229" "30" "4450" "0" "4450" "0" "c.4450G>A" "r.(?)" "p.(Gly1484Ser)" "" "" "" "0000513728" "00001229" "30" "4354" "-20" "4354" "-20" "c.4354-20A>G" "r.(=)" "p.(=)" "" "" "" "0000513729" "00001229" "30" "3837" "0" "3837" "0" "c.3837T>C" "r.(?)" "p.(Ile1279=)" "" "" "" "0000513730" "00001229" "10" "3837" "0" "3837" "0" "c.3837T>C" "r.(?)" "p.(Ile1279=)" "" "" "" "0000513731" "00001229" "10" "3690" "0" "3690" "0" "c.3690A>C" "r.(?)" "p.(Thr1230=)" "" "" "" "0000513732" "00001229" "30" "3471" "8" "3471" "8" "c.3471+8A>T" "r.(=)" "p.(=)" "" "" "" "0000513733" "00001229" "30" "3309" "16" "3309" "16" "c.3309+16A>G" "r.(=)" "p.(=)" "" "" "" "0000513734" "00001229" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Ala914Val)" "" "" "" "0000513735" "00001229" "30" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Asp854=)" "" "" "" "0000513737" "00001229" "30" "2478" "0" "2478" "0" "c.2478T>C" "r.(?)" "p.(Pro826=)" "" "" "" "0000513738" "00001229" "50" "2423" "0" "2423" "0" "c.2423C>T" "r.(?)" "p.(Pro808Leu)" "" "" "" "0000513739" "00001229" "30" "2338" "-6" "2338" "-6" "c.2338-6T>C" "r.(=)" "p.(=)" "" "" "" "0000513740" "00001229" "50" "2337" "1" "2337" "1" "c.2337+1G>T" "r.spl?" "p.?" "" "" "" "0000513741" "00001229" "30" "2298" "0" "2298" "0" "c.2298A>G" "r.(?)" "p.(Glu766=)" "" "" "" "0000513742" "00001229" "10" "2291" "0" "2291" "0" "c.2291C>G" "r.(?)" "p.(Pro764Arg)" "" "" "" "0000513743" "00001229" "30" "2230" "-15" "2230" "-15" "c.2230-15G>T" "r.(=)" "p.(=)" "" "" "" "0000513744" "00001229" "30" "2032" "-7" "2032" "-7" "c.2032-7G>A" "r.(=)" "p.(=)" "" "" "" "0000513745" "00001229" "50" "1618" "-7" "1618" "-7" "c.1618-7G>A" "r.(=)" "p.(=)" "" "" "" "0000513747" "00001229" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "" "0000513748" "00001229" "30" "609" "0" "609" "0" "c.609A>G" "r.(?)" "p.(Gly203=)" "" "" "" "0000513749" "00001229" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Pro179=)" "" "" "" "0000513750" "00001229" "30" "322" "8" "322" "8" "c.322+8T>C" "r.(=)" "p.(=)" "" "" "" "0000513751" "00001229" "50" "317" "0" "318" "0" "c.317_318insACA" "r.(?)" "p.(Asn106delinsLysHis)" "" "" "" "0000513752" "00001229" "30" "261" "0" "261" "0" "c.261G>A" "r.(?)" "p.(Thr87=)" "" "" "" "0000607347" "00001229" "50" "4295" "0" "4295" "0" "c.4295A>T" "r.(?)" "p.(Asp1432Val)" "" "" "" "0000607348" "00001229" "10" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Asp1414Asn)" "" "" "" "0000607349" "00001229" "30" "3471" "8" "3471" "8" "c.3471+8A>T" "r.(=)" "p.(=)" "" "" "" "0000607350" "00001229" "30" "2676" "0" "2676" "0" "c.2676T>A" "r.(?)" "p.(Val892=)" "" "" "" "0000620905" "00001229" "50" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106Trp)" "" "" "" "0000620906" "00001229" "30" "75" "0" "75" "0" "c.75A>G" "r.(?)" "p.(Lys25=)" "" "" "" "0000620907" "00001229" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "" "" "0000650369" "00001229" "30" "5665" "0" "5665" "0" "c.*1165G>A" "r.(=)" "p.(=)" "" "" "" "0000650370" "00001229" "50" "3391" "0" "3391" "0" "c.3391G>T" "r.(?)" "p.(Gly1131Cys)" "" "" "" "0000650371" "00001229" "30" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" "" "" "" "0000650372" "00001229" "30" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "" "" "0000650373" "00001229" "30" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Met361Leu)" "" "" "" "0000650374" "00001229" "70" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Gly110Glu)" "" "" "" "0000654471" "00001229" "50" "4106" "0" "4106" "0" "c.4106G>A" "r.(?)" "p.(Gly1369Glu)" "" "" "" "0000654472" "00001229" "30" "3837" "0" "3837" "0" "c.3837T>C" "r.(?)" "p.(Ile1279=)" "" "" "" "0000654473" "00001229" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "" "" "" "0000660114" "00001229" "50" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Met2Thr)" "" "" "" "0000663607" "00001229" "50" "4295" "0" "4295" "0" "c.4295A>T" "r.(?)" "p.(Asp1432Val)" "" "" "" "0000663608" "00001229" "50" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Asp1414Asn)" "" "" "" "0000669580" "00001229" "30" "5665" "0" "5665" "0" "c.*1165G>A" "r.(=)" "p.(=)" "" "" "" "0000669581" "00001229" "30" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" "" "" "" "0000669582" "00001229" "30" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "" "" "0000669583" "00001229" "30" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Met361Leu)" "" "" "" "0000676421" "00001229" "30" "4332" "0" "4332" "0" "c.4332C>G" "r.(?)" "p.(Ile1444Met)" "" "" "" "0000676422" "00001229" "50" "3014" "0" "3014" "0" "c.3014G>C" "r.(?)" "p.(Gly1005Ala)" "" "" "" "0000676423" "00001229" "30" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Asp854=)" "" "" "" "0000676424" "00001229" "50" "742" "0" "742" "0" "c.742A>G" "r.(?)" "p.(Met248Val)" "" "" "" "0000688585" "00001229" "50" "3241" "0" "3241" "0" "c.3241T>C" "r.(?)" "p.(Ser1081Pro)" "" "" "" "0000688586" "00001229" "50" "2945" "0" "2945" "0" "c.2945C>T" "r.(?)" "p.(Pro982Leu)" "" "" "" "0000688587" "00001229" "30" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Ala394=)" "" "" "" "0000688588" "00001229" "30" "291" "0" "291" "0" "c.291A>G" "r.(?)" "p.(Ser97=)" "" "" "" "0000703289" "00001229" "11" "4841" "" "4841" "" "g.4841G>A" "r.?" "p.?" "?" "substitution" "other/complex" "0000703290" "00001229" "51" "315" "0" "315" "0" "c.315A>C" "r.(?)" "p.(=)" "2" "substitution" "silent" "0000703291" "00001229" "11" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "7" "substitution" "missense" "0000703292" "00001229" "37" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Pro157Leu)" "7" "substitution" "missense" "0000703293" "00001229" "11" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Ala196Asp)" "8" "substitution" "missense" "0000703294" "00001229" "99" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "9" "substitution" "missense" "0000703295" "00001229" "79" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Ser)" "12" "substitution" "missense" "0000703296" "00001229" "99" "852" "1" "852" "1" "c.852+1G>C" "r.?" "p.?" "12i" "substitution" "splicing affected?" "0000703297" "00001229" "79" "960" "1" "960" "1" "c.960+1G>A" "r.?" "p.?" "14i" "substitution" "splicing affected?" "0000703298" "00001229" "99" "1006" "-2" "1006" "-2" "c.1006-2A>G" "r.(?)" "p.(Gly336_Pro353del)" "15i" "substitution" "splicing affected?" "0000703299" "00001229" "99" "1059" "2" "1059" "2" "c.1059+2T>A" "r.(?)" "p.(Gly336_Pro353del)" "16i" "substitution" "splicing affected?" "0000703300" "00001229" "31" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Met361Leu)" "17" "substitution" "missense" "0000703301" "00001229" "99" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Gly381Glu)" "18" "substitution" "missense" "0000703302" "00001229" "99" "1186" "0" "1186" "0" "c.1186G>C" "r.(?)" "p.(Gly396Arg)" "19" "substitution" "missense" "0000703303" "00001229" "51" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(=)" "21" "substitution" "silent" "0000703304" "00001229" "51" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "21" "substitution" "missense" "0000703305" "00001229" "99" "1401" "0" "1401" "0" "c.1401G>A" "r.1402_1455del" "p.Gly435_Pro467del" "21" "substitution" "splicing affected?" "0000703306" "00001229" "73" "1402" "-10" "1402" "-10" "c.1402-10T>G" "r.?" "p.?" "21i" "substitution" "splicing affected?" "0000703307" "00001229" "11" "1535" "0" "1535" "0" "c.1535T>C" "r.(?)" "p.(Val512Ala)" "23" "substitution" "missense" "0000703308" "00001229" "99" "1617" "4" "1617" "4" "c.1617+4A>G" "r.?" "p.?" "24i" "substitution" "splicing affected?" "0000703309" "00001229" "51" "1838" "0" "1838" "0" "c.1838G>C" "r.(?)" "p.(Ser613Thr)" "27" "substitution" "missense" "0000703310" "00001229" "51" "1868" "0" "1868" "0" "c.1868G>A" "r.(?)" "p.(Ser623Asn)" "27" "substitution" "missense" "0000703311" "00001229" "51" "1903" "0" "1903" "0" "c.1903G>C" "r.(?)" "p.(Ala635Pro)" "28" "substitution" "missense" "0000703312" "00001229" "51" "1920" "0" "1920" "0" "c.1920G>A" "r.(?)" "p.(=)" "28" "substitution" "silent" "0000703313" "00001229" "99" "1924" "-11" "1924" "-11" "c.1924-11T>C" "r.?" "p.?" "28i" "substitution" "splicing affected?" "0000703314" "00001229" "99" "1924" "-2" "1928" "0" "c.1924-2_1928del" "r.?" "p.?" "28i" "deletion" "splicing affected?" "0000703315" "00001229" "99" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Gly645Arg)" "29" "substitution" "missense" "0000703316" "00001229" "99" "1947" "0" "1947" "0" "c.1947A>G" "r.(?)" "p.(Gly642_Pro659del)" "29" "substitution" "splicing affected, exon skipped" "0000703317" "00001229" "11" "1976" "0" "1976" "0" "c.1976C>T" "r.(?)" "p.(Pro659Leu)" "29" "substitution" "missense" "0000703318" "00001229" "99" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Gly642_Pro659del)" "29" "substitution" "splicing affected, exon skipped" "0000703319" "00001229" "99" "2031" "1" "2031" "1" "c.2031+1G>T" "r.?" "p.?" "30i" "substitution" "splicing affected?" "0000703320" "00001229" "11" "2228" "0" "2228" "0" "c.2228A>C" "r.(?)" "p.(Lys743Thr)" "33" "substitution" "missense" "0000703321" "00001229" "51" "2263" "0" "2263" "0" "c.2263A>C" "r.(?)" "p.(Thr755Pro)" "34" "substitution" "missense" "0000703322" "00001229" "97" "2337" "2" "2337" "2" "c.2337+2T>A" "r.?" "p.?" "34i" "substitution" "splicing affected?" "0000703323" "00001229" "51" "2376" "0" "2376" "0" "c.2376A>C" "r.(?)" "p.(=)" "35" "substitution" "silent" "0000703324" "00001229" "11" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" "37" "substitution" "missense" "0000703325" "00001229" "99" "2499" "2" "2499" "2" "c.2499+2T>C" "r.(?)" "p.(Gly816_Pro833del)" "37i" "substitution" "splicing affected, exon skipped" "0000703326" "00001229" "97" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Pro841Ser)" "38" "substitution" "missense" "0000703327" "00001229" "99" "2553" "2" "2553" "2" "c.2553+2del" "r.?" "p.?" "38i" "deletion" "splicing affected?" "0000703328" "00001229" "33" "2846" "0" "2846" "0" "c.2846C>G" "r.(?)" "p.(Ser949Cys)" "42" "substitution" "missense" "0000703329" "00001229" "59" "2861" "0" "2861" "0" "c.2861dup" "r.(?)" "p.(Asp955Argfs*74)" "42" "duplication" "frameshift" "0000703330" "00001229" "51" "2867" "0" "2867" "0" "c.2867G>C" "r.(?)" "p.(Arg956Pro)" "42" "substitution" "missense" "0000703331" "00001229" "99" "3040" "-2" "3040" "-2" "c.3040-2A>G" "r.(?)" "p.(Gly1014_Glu1049del)" "43i" "substitution" "splicing affected?" "0000703332" "00001229" "59" "3054" "0" "3054" "0" "c.3054dup" "r.(?)" "p.(Val1019Serfs*10)" "44" "duplication" "frameshift" "0000703333" "00001229" "99" "3104" "0" "3109" "0" "c.3104_3109del" "r.(?)" "p.(Gly1035_Pro1037delinsAla)" "44" "deletion" "delins" "0000703334" "00001229" "99" "3148" "-2" "3148" "-2" "c.3148-2A>G" "r.?" "p.?" "44i" "substitution" "splicing affected?" "0000703335" "00001229" "79" "3275" "0" "3275" "0" "c.3275G>A" "r.(?)" "p.(Gly1092Asp)" "46" "substitution" "missense" "0000703336" "00001229" "59" "3348" "0" "3348" "0" "c.3348dup" "r.(?)" "p.(Lys1117Glufs*13)" "47" "duplication" "frameshift" "0000703337" "00001229" "11" "3388" "0" "3388" "0" "c.3388A>G" "r.(?)" "p.(Lys1130Glu)" "48" "substitution" "missense" "0000703338" "00001229" "51" "3411" "0" "3411" "0" "c.3411C>T" "r.(?)" "p.(=)" "48" "substitution" "silent" "0000703339" "00001229" "99" "3437" "0" "3437" "0" "c.3437G>C" "r.(?)" "p.(Gly1146Ala)" "48" "substitution" "missense" "0000703340" "00001229" "99" "3445" "0" "3445" "0" "c.3445G>C" "r.(?)" "p.(Gly1149Arg)" "48" "substitution" "missense" "0000703341" "00001229" "99" "3445" "0" "3445" "0" "c.3445G>T" "r.(?)" "p.(Gly1149Cys)" "48" "substitution" "missense" "0000703342" "00001229" "99" "3526" "0" "3526" "0" "c.3526G>C" "r.(?)" "p.(Gly1176Arg)" "50" "substitution" "missense" "0000703343" "00001229" "99" "3625" "0" "3625" "0" "c.3625G>A" "r.(?)" "p.(Gly1209Arg)" "50" "substitution" "missense" "0000703344" "00001229" "99" "3644" "0" "3644" "0" "c.3644G>T" "r.(?)" "p.(Gly1215Val)" "51" "substitution" "missense" "0000703345" "00001229" "11" "3688" "0" "3688" "0" "c.3688A>T" "r.(?)" "p.(Thr1230Ser)" "51" "substitution" "missense" "0000703346" "00001229" "11" "3689" "0" "3689" "0" "c.3689C>G" "r.(?)" "p.(Thr1230Arg)" "51" "substitution" "missense" "0000703347" "00001229" "11" "3690" "0" "3690" "0" "c.3690A>C" "r.(?)" "p.(=)" "51" "substitution" "silent" "0000703348" "00001229" "11" "3720" "0" "3720" "0" "c.3720T>C" "r.(?)" "p.(=)" "51" "substitution" "silent" "0000703349" "00001229" "11" "3856" "0" "3856" "0" "c.3856G>A" "r.(?)" "p.(Asp1286Asn)" "51" "substitution" "missense" "0000703350" "00001229" "51" "3969" "0" "3969" "0" "c.3969A>C" "r.(?)" "p.(=)" "52" "substitution" "silent" "0000703351" "00001229" "15" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Asp1414Asn)" "53" "substitution" "missense" "0000703352" "00001229" "11" "4295" "0" "4295" "0" "c.4295A>T" "r.(?)" "p.(Asp1432Val)" "53" "substitution" "missense" "0000703353" "00001229" "99" "4298" "0" "4298" "0" "c.4298del" "r.(?)" "p.(Ile1433Thrfs*43)" "53" "deletion" "frameshift" "0000703354" "00001229" "53" "4362" "0" "4362" "0" "c.4362T>A" "r.(?)" "p.(Asn1454Lys)" "54" "substitution" "missense" "0000703355" "00001229" "51" "4453" "0" "4453" "0" "c.4453A>T" "r.(?)" "p.(Thr1485Ser)" "54" "substitution" "missense" "0000703356" "00001229" "33" "4468" "0" "4468" "0" "c.4468G>A" "r.(?)" "p.(Gly1490Ser)" "54" "substitution" "missense" "0000703357" "00001229" "71" "4496" "0" "4496" "0" "c.4496T>C" "r.(?)" "p.(Val1499Ala)" "54" "substitution" "missense" "0000703358" "00001229" "11" "4798" "0" "4798" "0" "c.*298G>A" "r.?" "p.?" "54" "substitution" "other/complex" "0000712970" "00001229" "50" "3388" "0" "3388" "0" "c.3388A>C" "r.(?)" "p.(Lys1130Gln)" "48" "" "" "0000718345" "00001229" "30" "4353" "8" "4353" "8" "c.4353+8C>G" "r.(=)" "p.(=)" "" "" "" "0000718346" "00001229" "30" "3837" "0" "3837" "0" "c.3837T>C" "r.(?)" "p.(Ile1279=)" "" "" "" "0000718347" "00001229" "30" "3364" "-17" "3364" "-17" "c.3364-17C>T" "r.(=)" "p.(=)" "" "" "" "0000718348" "00001229" "30" "2338" "-6" "2338" "-6" "c.2338-6T>C" "r.(=)" "p.(=)" "" "" "" "0000718349" "00001229" "30" "322" "8" "322" "8" "c.322+8T>C" "r.(=)" "p.(=)" "" "" "" "0000718350" "00001229" "30" "75" "0" "75" "0" "c.75A>G" "r.(?)" "p.(Lys25=)" "" "" "" "0000734962" "00001229" "90" "2086" "-1" "3201" "1" "c.(2085+1_2086-1)_(3201+1_3202-1)del" "r.?" "p.(Gly695_Arg1067del)" "" "deletion, large" "deletion, multi exon" "0000734964" "00001229" "90" "773" "0" "773" "0" "c.773G>T" "r.(?)" "p.(Gly258Val)" "" "substitution" "missense" "0000734965" "00001229" "90" "960" "0" "960" "0" "c.960G>A" "r.(=)" "p.(Gly336_Pro353del)" "" "" "splicing affected, exon skipped" "0000734967" "00001229" "90" "1456" "-1" "1456" "-1" "c.1456-1G>A" "r.spl?" "p.?" "" "" "splicing affected" "0000734969" "00001229" "90" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Ser)" "" "substitution" "missense" "0000734970" "00001229" "90" "1977" "0" "1977" "0" "c.1977G>A" "r.(=)" "p.(Gly642_Pro659del)" "" "" "splicing affected, exon skipped" "0000734972" "00001229" "90" "2015" "0" "2015" "0" "c.2015G>T" "r.(?)" "p.(Gly672Val)" "" "substitution" "missense" "0000734973" "00001229" "90" "2031" "1" "2031" "1" "c.2031+1G>T" "r.spl?" "p.?" "" "" "splicing affected, exon skipped" "0000734975" "00001229" "90" "2194" "0" "2194" "0" "c.2194G>A" "r.(?)" "p.(Gly732Arg)" "" "substitution" "missense" "0000734977" "00001229" "90" "2553" "1" "2553" "1" "c.2553+1G>A" "r.spl?" "p.?" "" "" "splicing affected, exon skipped" "0000734979" "00001229" "90" "3464" "0" "3464" "0" "c.3464G>T" "r.(?)" "p.(Gly1155Val)" "" "substitution" "missense" "0000800233" "00001229" "30" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Asp1414Asn)" "" "" "" "0000800234" "00001229" "50" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "" "" "0000800235" "00001229" "50" "3116" "0" "3116" "0" "c.3116C>T" "r.(?)" "p.(Ser1039Phe)" "" "" "" "0000800236" "00001229" "30" "2867" "0" "2867" "0" "c.2867G>C" "r.(?)" "p.(Arg956Pro)" "" "" "" "0000800237" "00001229" "30" "2787" "0" "2787" "0" "c.2787G>A" "r.(?)" "p.(Ala929=)" "" "" "" "0000800238" "00001229" "30" "1005" "10" "1005" "10" "c.1005+10C>T" "r.(=)" "p.(=)" "" "" "" "0000800239" "00001229" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Pro179=)" "" "" "" "0000839648" "00001229" "90" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Gly852Asp)" "" "" "missense" "0000849625" "00001229" "30" "4116" "0" "4116" "0" "c.4116C>T" "r.(?)" "p.(Phe1372=)" "" "" "" "0000858218" "00001229" "30" "1104" "15" "1104" "15" "c.1104+15T>C" "r.(=)" "p.(=)" "" "" "" "0000858219" "00001229" "30" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(Pro325=)" "" "" "" "0000878064" "00001229" "70" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Gly234Arg)" "10" "" "" "0000878074" "00001229" "50" "3794" "0" "3794" "0" "c.3794A>G" "r.(?)" "p.(Asp1265Gly)" "51" "" "" "0000878075" "00001229" "50" "674" "0" "674" "0" "c.674G>T" "r.(?)" "p.(Gly225Val)" "9" "" "" "0000878080" "00001229" "50" "2143" "0" "2143" "0" "c.2143A>G" "r.(?)" "p.(Asn715Asp)" "33" "" "" "0000878087" "00001229" "50" "3646" "0" "3646" "0" "c.3646G>A" "r.(?)" "p.(Glu1216Lys)" "51" "" "" "0000878089" "00001229" "50" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Val548Ile)" "25" "" "" "0000878092" "00001229" "50" "3542" "0" "3542" "0" "c.3542T>C" "r.(?)" "p.(Val1181Ala)" "50" "" "" "0000878110" "00001229" "50" "3881" "0" "3881" "0" "c.3881G>A" "r.(?)" "p.(Arg1294His)" "51" "" "" "0000878113" "00001229" "50" "490" "0" "490" "0" "c.490C>G" "r.(?)" "p.(Pro164Ala)" "7" "" "" "0000878116" "00001229" "70" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Arg)" "10" "" "" "0000878143" "00001229" "70" "2338" "-11" "2338" "-11" "c.2338-11T>G" "r.spl?" "p.?" "" "" "" "0000878151" "00001229" "50" "633" "0" "633" "0" "c.633G>A" "r.(?)" "p.(Met211Ile)" "8" "" "" "0000878177" "00001229" "70" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Gly375Asp)" "18" "" "" "0000878188" "00001229" "70" "1977" "0" "1977" "0" "c.1977G>A" "r.spl" "p.(Pro659=)" "29" "" "" "0000878204" "00001229" "50" "4210" "0" "4210" "0" "c.4210A>T" "r.(?)" "p.(Ile1404Phe)" "53" "" "" "0000878206" "00001229" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "" "" "0000879051" "00001229" "55" "3399" "0" "3399" "0" "c.3399T>C" "r.(=)" "p.(=)" "48" "substitution" "silent" "0000884642" "00001229" "50" "2960" "0" "2960" "0" "c.2960G>C" "r.(?)" "p.(Gly987Ala)" "" "" "" "0000884643" "00001229" "30" "2769" "20" "2769" "20" "c.2769+20C>T" "r.(=)" "p.(=)" "" "" "" "0000884644" "00001229" "30" "2230" "-16" "2230" "-16" "c.2230-16T>A" "r.(=)" "p.(=)" "" "" "" "0000884645" "00001229" "30" "1869" "17" "1869" "17" "c.1869+17A>G" "r.(=)" "p.(=)" "" "" "" "0000884646" "00001229" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "" "0000884647" "00001229" "10" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Gly345=)" "" "" "" "0000884648" "00001229" "30" "1005" "18" "1005" "18" "c.1005+18T>C" "r.(=)" "p.(=)" "" "" "" "0000902327" "00001229" "30" "3919" "0" "3919" "0" "c.3919C>G" "r.(?)" "p.(Gln1307Glu)" "" "" "" "0000911491" "00001229" "50" "4456" "0" "4456" "0" "c.4456G>C" "r.(?)" "p.(Asp1486His)" "" "" "" "0000911492" "00001229" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Leu11=)" "" "" "" "0000918894" "00001229" "50" "3919" "0" "3919" "0" "c.3919C>G" "r.(?)" "p.(Gln1307Glu)" "51" "" "" "0000918898" "00001229" "50" "3412" "0" "3412" "0" "c.3412G>A" "r.(?)" "p.(Asp1138Asn)" "48" "" "" "0000918899" "00001229" "50" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Gln207Glu)" "8" "" "" "0000923540" "00001229" "30" "4197" "0" "4197" "0" "c.4197G>A" "r.(?)" "p.(Gln1399=)" "" "" "" "0000923541" "00001229" "50" "3829" "0" "3829" "0" "c.3829A>G" "r.(?)" "p.(Ser1277Gly)" "" "" "" "0000923542" "00001229" "30" "3364" "-17" "3364" "-17" "c.3364-17C>T" "r.(=)" "p.(=)" "" "" "" "0000923543" "00001229" "10" "2661" "20" "2661" "20" "c.2661+20G>A" "r.(=)" "p.(=)" "" "" "" "0000923544" "00001229" "10" "2086" "-12" "2086" "-12" "c.2086-12dup" "r.(=)" "p.(=)" "" "" "" "0000923545" "00001229" "90" "1977" "1" "1977" "1" "c.1977+1G>T" "r.spl?" "p.?" "" "" "" "0000927827" "00001229" "90" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Gly666Glu)" "2" "substitution" "missense" "0000928453" "00001229" "30" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(Gly1490=)" "" "" "" "0000928454" "00001229" "30" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Pro1033Leu)" "" "" "" "0000928455" "00001229" "30" "3038" "0" "3038" "0" "c.3038C>T" "r.(?)" "p.(Ala1013Val)" "" "" "" "0000928456" "00001229" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Lys620Arg)" "" "" "" "0000928457" "00001229" "30" "1060" "-124" "1060" "-124" "c.1060-124T>C" "r.(=)" "p.(=)" "" "" "" "0000928458" "00001229" "90" "960" "2" "960" "2" "c.960+2T>C" "r.spl?" "p.?" "" "" "" "0000931502" "00001229" "77" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Gly1140Asp)" "48" "substitution" "missense" "0000944672" "00001229" "30" "3385" "0" "3385" "0" "c.3385G>A" "r.(?)" "p.(Asp1129Asn)" "" "" "" "0000947666" "00001229" "10" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Asp1414Asn)" "" "" "" "0000947667" "00001229" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "" "" "0000947668" "00001229" "10" "1456" "-20" "1456" "-20" "c.1456-20T>C" "r.(=)" "p.(=)" "" "" "" "0000961765" "00001229" "30" "2787" "0" "2787" "0" "c.2787G>A" "r.(?)" "p.(Ala929=)" "" "" "" "0000961766" "00001229" "30" "2769" "54" "2769" "54" "c.2769+54G>A" "r.(=)" "p.(=)" "" "" "" "0000961767" "00001229" "30" "907" "-188" "907" "-188" "c.907-188G>C" "r.(=)" "p.(=)" "" "" "" "0000961769" "00001229" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "" "" "0000972040" "00001229" "55" "158" "0" "158" "0" "c.158T>A" "r.(?)" "p.(Ile53Asn)" "2" "substitution" "missense" "0000974823" "00001229" "30" "3918" "0" "3918" "0" "c.3918G>A" "r.(?)" "p.(=)" "" "" "" "0000974824" "00001229" "30" "2770" "-251" "2770" "-251" "c.2770-251C>T" "r.(=)" "p.(=)" "" "" "" "0000974825" "00001229" "30" "1454" "0" "1454" "0" "c.1454C>A" "r.(?)" "p.(Pro485Gln)" "" "" "" "0000974826" "00001229" "30" "1258" "-33" "1258" "-33" "c.1258-33T>C" "r.(=)" "p.(=)" "" "" "" "0000974827" "00001229" "50" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "" "" "" "0000992309" "00001229" "30" "4295" "0" "4295" "0" "c.4295A>T" "r.(?)" "p.(Asp1432Val)" "" "" "" "0000992310" "00001229" "10" "4197" "0" "4197" "0" "c.4197G>A" "r.(?)" "p.(Gln1399=)" "" "" "" "0000992311" "00001229" "30" "4172" "0" "4172" "0" "c.4172G>A" "r.(?)" "p.(Arg1391His)" "" "" "" "0000992312" "00001229" "30" "3633" "168" "3633" "168" "c.3633+168A>T" "r.(=)" "p.(=)" "" "" "" "0000992313" "00001229" "70" "2564" "0" "2564" "0" "c.2564G>C" "r.(?)" "p.(Gly855Ala)" "" "" "" "0000992314" "00001229" "50" "2486" "0" "2486" "0" "c.2486C>A" "r.(?)" "p.(Ser829Tyr)" "" "" "" "0000992315" "00001229" "30" "2338" "-6" "2338" "-6" "c.2338-6T>C" "r.(=)" "p.(=)" "" "" "" "0000992316" "00001229" "30" "2111" "0" "2111" "0" "c.2111T>C" "r.(?)" "p.(Val704Ala)" "" "" "" "0000992317" "00001229" "50" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" "" "" "" "0000992318" "00001229" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "" "0000992319" "00001229" "50" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Lys73Arg)" "" "" "" "0000992320" "00001229" "50" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Gly19Arg)" "" "" "" "0001013594" "00001229" "70" "1402" "-1" "1402" "-1" "c.1402-1G>C" "r.spl?" "p.?" "" "" "" "0001013595" "00001229" "50" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Ala292Val)" "" "" "" "0001013596" "00001229" "50" "300" "0" "300" "0" "c.300T>A" "r.(?)" "p.(=)" "" "" "" "0001024457" "00001229" "30" "4389" "0" "4389" "0" "c.4389A>G" "r.(?)" "p.(=)" "" "" "" "0001024458" "00001229" "30" "3689" "0" "3689" "0" "c.3689C>G" "r.(?)" "p.(Thr1230Arg)" "" "" "" "0001024459" "00001229" "30" "2554" "-6" "2554" "-6" "c.2554-6T>G" "r.(=)" "p.(=)" "" "" "" "0001024460" "00001229" "30" "2554" "-14" "2554" "-14" "c.2554-14A>G" "r.(=)" "p.(=)" "" "" "" "0001024461" "00001229" "30" "198" "0" "198" "0" "c.198T>C" "r.(?)" "p.(=)" "" "" "" "0001030885" "00001229" "70" "1924" "-2" "1924" "-2" "c.1924-2A>T" "r.(?)" "p.(?)" "" "" "" "0001032863" "00001229" "10" "4389" "0" "4389" "0" "c.4389A>G" "r.(?)" "p.(=)" "" "" "" "0001032864" "00001229" "30" "2715" "11" "2715" "11" "c.2715+11T>C" "r.(=)" "p.(=)" "" "" "" "0001032865" "00001229" "10" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Met361Leu)" "" "" "" "0001032866" "00001229" "50" "263" "0" "263" "0" "c.263C>A" "r.(?)" "p.(Pro88His)" "" "" "" "0001032867" "00001229" "10" "261" "0" "261" "0" "c.261G>A" "r.(?)" "p.(Thr87=)" "" "" "" "0001045793" "00001229" "10" "4389" "0" "4389" "0" "c.4389A>G" "r.(?)" "p.(=)" "" "" "" "0001045794" "00001229" "30" "403" "-3" "403" "-3" "c.403-3T>C" "r.spl?" "p.?" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 122 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002309" "0000080144" "0000129056" "0000208844" "0000438840" "0000293680" "0000650369" "0000293681" "0000650370" "0000293682" "0000650371" "0000293683" "0000650372" "0000293684" "0000650373" "0000293685" "0000650374" "0000297512" "0000660114" "0000300750" "0000663607" "0000300750" "0000663608" "0000305892" "0000669580" "0000305893" "0000669581" "0000305894" "0000669582" "0000305895" "0000669583" "0000320570" "0000703289" "0000320571" "0000703290" "0000320572" "0000703291" "0000320573" "0000703292" "0000320574" "0000703293" "0000320575" "0000703294" "0000320576" "0000703295" "0000320577" "0000703296" "0000320578" "0000703297" "0000320579" "0000703298" "0000320580" "0000703299" "0000320581" "0000703300" "0000320582" "0000703301" "0000320583" "0000703302" "0000320584" "0000703303" "0000320585" "0000703304" "0000320586" "0000703305" "0000320587" "0000703306" "0000320588" "0000703307" "0000320588" "0000703324" "0000320589" "0000703308" "0000320590" "0000703309" "0000320591" "0000703310" "0000320592" "0000703311" "0000320593" "0000703312" "0000320594" "0000703313" "0000320595" "0000703314" "0000320596" "0000703315" "0000320597" "0000703316" "0000320598" "0000703317" "0000320599" "0000703318" "0000320600" "0000703319" "0000320601" "0000703320" "0000320602" "0000703321" "0000320603" "0000703322" "0000320604" "0000703323" "0000320605" "0000703325" "0000320606" "0000703326" "0000320607" "0000703327" "0000320608" "0000703328" "0000320609" "0000703329" "0000320610" "0000703330" "0000320611" "0000703331" "0000320612" "0000703332" "0000320613" "0000703333" "0000320614" "0000703334" "0000320615" "0000703335" "0000320616" "0000703336" "0000320617" "0000703337" "0000320618" "0000703338" "0000320619" "0000703339" "0000320620" "0000703340" "0000320621" "0000703341" "0000320622" "0000703342" "0000320623" "0000703343" "0000320624" "0000703344" "0000320625" "0000703345" "0000320626" "0000703346" "0000320627" "0000703347" "0000320628" "0000703348" "0000320629" "0000703349" "0000320630" "0000703350" "0000320631" "0000703351" "0000320632" "0000703352" "0000320633" "0000703353" "0000320634" "0000703354" "0000320635" "0000703355" "0000320636" "0000703356" "0000320637" "0000703357" "0000320638" "0000703358" "0000328847" "0000712970" "0000336051" "0000734962" "0000336053" "0000734964" "0000336054" "0000734965" "0000336056" "0000734967" "0000336058" "0000734969" "0000336059" "0000734970" "0000336061" "0000734972" "0000336062" "0000734973" "0000336064" "0000734975" "0000336067" "0000734977" "0000336069" "0000734979" "0000404052" "0000839648" "0000418308" "0000878064" "0000418318" "0000878074" "0000418319" "0000878075" "0000418324" "0000878080" "0000418331" "0000878087" "0000418333" "0000878089" "0000418336" "0000878092" "0000418354" "0000878110" "0000418354" "0000878204" "0000418357" "0000878113" "0000418360" "0000878116" "0000418387" "0000878143" "0000418395" "0000878151" "0000418399" "0000878206" "0000418421" "0000878177" "0000418432" "0000878188" "0000419129" "0000879051" "0000433259" "0000918894" "0000433263" "0000918898" "0000433264" "0000918899" "0000436705" "0000927827" "0000436835" "0000931502" "0000450106" "0000972040"