### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL9A1)
# 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}}"
"COL9A1" "collagen, type IX, alpha 1" "6" "q12-q14" "unknown" "NG_011654.1" "UD_132084572055" "" "https://www.LOVD.nl/COL9A1" "" "1" "2217" "1297" "120210" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/COL9A1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-11-13 09:18:24" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00005481" "COL9A1" "transcript variant 1" "001" "NM_001851.4" "" "NP_001842.3" "" "" "" "-159" "3623" "2766" "71012786" "70925743" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00548" "EDM2" "dysplasia, epiphyseal, multiple, type 2 (EDM-2)" "AD" "600204" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00620" "EDM6" "dysplasia, epiphyseal, multiple, type 6 (EDM-6)" "AD" "614135" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00621" "STL4" "Stickler syndrome, type IV (STL-4)" "" "614134" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"COL9A1" "00620"
"COL9A1" "00621"
## Individuals ## Do not remove or alter this header ##
## Count = 13
"{{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}}"
"00207702" "" "" "" "1" "" "02414" "" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00235307" "" "" "" "2" "" "02404" "{PMID:Hofrichter 2019:31315069}" "" "M" "no" "Iran" "" "0" "" "" "" "E26"
"00248523" "" "" "" "2" "" "00000" "" "proband and affected mother" "" "" "" "" "0" "" "" "" ""
"00248524" "" "" "" "5" "" "00000" "" "4 affected sibs, parents heterozygous carriers" "" "yes" "Morocco" "" "0" "" "" "" ""
"00294174" "" "" "" "209" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294175" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294176" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294177" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305113" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00358950" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71876"
"00358967" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71315"
"00358979" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71808"
"00386879" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-246"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 13
"{{individualid}}" "{{diseaseid}}"
"00207702" "00621"
"00235307" "05400"
"00248523" "00548"
"00248524" "00621"
"00294174" "00198"
"00294175" "00198"
"00294176" "00198"
"00294177" "00198"
"00305113" "00198"
"00358950" "04214"
"00358967" "04214"
"00358979" "04214"
"00386879" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00548, 00620, 00621, 04214, 05400
## Count = 8
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000155493" "00621" "00207702" "02414" "Familial, autosomal recessive" "06y" "Congenital sensorineural hyearing loss\r\nHigh myopia\r\nHypoplastic vitreous gel" "" "" "" "" "" "" "" "" "" "" ""
"0000175570" "05400" "00235307" "02404" "Familial, autosomal recessive" "28y" "Apparent non-syndromic hearing loss with no other signs of a syndrome." "" "" "" "" "" "" "" "" "" "Hearing loss" ""
"0000187492" "00548" "00248523" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000187493" "00621" "00248524" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254248" "04214" "00358950" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000254265" "04214" "00358967" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254277" "04214" "00358979" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000280679" "04214" "00386879" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 13
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000208743" "00207702" "1" "02414" "02414" "2018-11-28 23:46:29" "" "" "SEQ-NG-I" "DNA" "" "Gene panel"
"0000236410" "00235307" "1" "02404" "02404" "2019-05-18 10:04:35" "" "" "SEQ-NG-I" "DNA" "" ""
"0000249626" "00248523" "1" "00000" "00006" "2011-10-21 14:42:50" "" "" "SEQ" "DNA" "" ""
"0000249627" "00248524" "1" "00000" "00006" "2011-10-21 14:42:50" "" "" "SEQ" "DNA" "" ""
"0000295342" "00294174" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295343" "00294175" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295344" "00294176" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295345" "00294177" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306242" "00305113" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000360187" "00358950" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360204" "00358967" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360216" "00358979" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000388107" "00386879" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{geneid}}"
"0000208743" "COL11A1"
"0000208743" "COL11A2"
"0000208743" "COL2A1"
"0000208743" "COL9A1"
"0000208743" "COL9A2"
"0000208743" "COL9A3"
"0000236410" "COL9A1"
"0000249626" "COL9A1"
"0000249627" "COL9A1"
"0000388107" "COL9A1"
## 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 = 184
"{{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}}"
"0000246436" "0" "10" "6" "70964895" "70964895" "subst" "0.000682744" "02330" "COL9A1_000027" "g.70964895A>T" "" "" "" "COL9A1(NM_001851.4):c.1569T>A (p.G523=), COL9A1(NM_001851.6):c.1569T>A (p.G523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70255192A>T" "" "benign" ""
"0000246463" "0" "10" "6" "70935654" "70935654" "subst" "0.00218154" "02330" "COL9A1_000003" "g.70935654A>G" "" "" "" "COL9A1(NM_001851.4):c.2562T>C (p.P854=), COL9A1(NM_001851.6):c.2562T>C (p.P854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70225951A>G" "" "benign" ""
"0000246503" "0" "10" "6" "70951103" "70951103" "subst" "0.00188485" "02330" "COL9A1_000025" "g.70951103A>C" "" "" "" "COL9A1(NM_001851.6):c.2034+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70241400A>C" "" "benign" ""
"0000246504" "0" "10" "6" "70972933" "70972933" "subst" "0.000912929" "02330" "COL9A1_000029" "g.70972933A>T" "" "" "" "COL9A1(NM_001851.6):c.1395+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70263230A>T" "" "benign" ""
"0000246505" "0" "10" "6" "70976477" "70976477" "subst" "0.00073524" "02330" "COL9A1_000011" "g.70976477A>T" "" "" "" "COL9A1(NM_001851.6):c.1288-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70266774A>T" "" "benign" ""
"0000246506" "0" "10" "6" "70980006" "70980006" "subst" "0.000874261" "02330" "COL9A1_000013" "g.70980006A>G" "" "" "" "COL9A1(NM_001851.6):c.1197+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70270303A>G" "" "benign" ""
"0000248323" "0" "10" "6" "70984436" "70984436" "subst" "0.394514" "02325" "COL9A1_000015" "g.70984436A>G" "" "" "" "COL9A1(NM_001851.4):c.1015T>C (p.S339P), COL9A1(NM_001851.6):c.1015T>C (p.S339P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70274733A>G" "" "benign" ""
"0000249101" "0" "10" "6" "70989703" "70989703" "subst" "0" "02325" "COL9A1_000016" "g.70989703A>G" "" "" "" "COL9A1(NM_001851.6):c.975+812T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70280000A>G" "" "benign" ""
"0000250058" "0" "10" "6" "70984436" "70984436" "subst" "0.394514" "02329" "COL9A1_000015" "g.70984436A>G" "" "" "" "COL9A1(NM_001851.4):c.1015T>C (p.S339P), COL9A1(NM_001851.6):c.1015T>C (p.S339P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70274733A>G" "" "benign" ""
"0000250103" "0" "10" "6" "70963124" "70963124" "subst" "0.124554" "02329" "COL9A1_000020" "g.70963124A>C" "" "" "" "COL9A1(NM_001851.6):c.1728T>G (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253421A>C" "" "benign" ""
"0000250209" "0" "10" "6" "70951103" "70951103" "subst" "0.150227" "02329" "COL9A1_000019" "g.70951103A>G" "" "" "" "COL9A1(NM_001851.6):c.2034+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70241400A>G" "" "benign" ""
"0000250210" "0" "10" "6" "70965107" "70965107" "subst" "0.0102312" "02329" "COL9A1_000010" "g.70965107A>T" "" "" "" "COL9A1(NM_001851.6):c.1504-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70255404A>T" "" "benign" ""
"0000250211" "0" "10" "6" "70979324" "70979324" "subst" "0.149097" "02329" "COL9A1_000012" "g.70979324A>G" "" "" "" "COL9A1(NM_001851.6):c.1230+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70269621A>G" "" "benign" ""
"0000250212" "0" "10" "6" "70981794" "70981794" "subst" "0.0376851" "02329" "COL9A1_000014" "g.70981794A>G" "" "" "" "COL9A1(NM_001851.4):c.1066-3T>C (p.?), COL9A1(NM_001851.6):c.1066-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70272091A>G" "" "benign" ""
"0000250213" "0" "10" "6" "71010101" "71010101" "subst" "0.168279" "02329" "COL9A1_000017" "g.71010101A>G" "" "" "" "COL9A1(NM_001851.4):c.89-12T>C, COL9A1(NM_001851.6):c.89-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70300398A>G" "" "benign" ""
"0000254136" "0" "30" "6" "70964895" "70964895" "subst" "0.000682744" "01943" "COL9A1_000027" "g.70964895A>T" "" "" "" "COL9A1(NM_001851.4):c.1569T>A (p.G523=), COL9A1(NM_001851.6):c.1569T>A (p.G523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70255192A>T" "" "likely benign" ""
"0000254440" "0" "30" "6" "70951673" "70951673" "subst" "0.000539977" "01943" "COL9A1_000026" "g.70951673A>C" "" "" "" "COL9A1(NM_001851.4):c.1992T>G (p.G664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70241970A>C" "" "likely benign" ""
"0000264939" "0" "10" "6" "70983801" "70983801" "subst" "4.64507E-5" "02330" "COL9A1_000034" "g.70983801G>C" "" "" "" "COL9A1(NM_001851.6):c.1030-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70274098G>C" "" "benign" ""
"0000264941" "0" "10" "6" "71010040" "71010040" "subst" "0.000495665" "02330" "COL9A1_000044" "g.71010040C>T" "" "" "" "COL9A1(NM_001851.4):c.138G>A (p.K46=), COL9A1(NM_001851.6):c.138G>A (p.K46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70300337C>T" "" "benign" ""
"0000264942" "0" "50" "6" "70965044" "70965044" "subst" "0.000235671" "02330" "COL9A1_000028" "g.70965044T>A" "" "" "" "COL9A1(NM_001851.4):c.1553A>T (p.D518V), COL9A1(NM_001851.6):c.1553A>T (p.D518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70255341T>A" "" "VUS" ""
"0000264943" "0" "10" "6" "71010007" "71010007" "subst" "8.94171E-5" "02330" "COL9A1_000043" "g.71010007C>T" "" "" "" "COL9A1(NM_001851.4):c.166+5G>A, COL9A1(NM_001851.6):c.166+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70300304C>T" "" "benign" ""
"0000264945" "0" "30" "6" "70942353" "70942353" "subst" "8.13511E-5" "02330" "COL9A1_000004" "g.70942353C>A" "" "" "" "COL9A1(NM_001851.6):c.2436G>T (p.Q812H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70232650C>A" "" "likely benign" ""
"0000264946" "0" "50" "6" "70926749" "70926749" "subst" "4.11245E-6" "02330" "COL9A1_000071" "g.70926749G>A" "" "" "" "COL9A1(NM_001851.6):c.2617C>T (p.R873*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70217046G>A" "" "VUS" ""
"0000264947" "0" "10" "6" "71009732" "71009732" "subst" "0.000496371" "02330" "COL9A1_000042" "g.71009732T>G" "" "" "" "COL9A1(NM_001851.6):c.299+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70300029T>G" "" "benign" ""
"0000264948" "0" "10" "6" "71004106" "71004106" "subst" "0.000300583" "02330" "COL9A1_000041" "g.71004106C>G" "" "" "" "COL9A1(NM_001851.4):c.460G>C (p.V154L), COL9A1(NM_001851.6):c.460G>C (p.V154L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70294403C>G" "" "benign" ""
"0000264949" "0" "10" "6" "70992607" "70992607" "subst" "0.00023148" "02330" "COL9A1_000039" "g.70992607G>C" "" "" "" "COL9A1(NM_001851.4):c.795C>G (p.T265=), COL9A1(NM_001851.6):c.795C>G (p.T265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70282904G>C" "" "benign" ""
"0000264950" "0" "10" "6" "70991138" "70991138" "subst" "0.000176166" "02330" "COL9A1_000037" "g.70991138G>T" "" "" "" "COL9A1(NM_001851.4):c.831C>A (p.P277=), COL9A1(NM_001851.6):c.831C>A (p.P277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70281435G>T" "" "benign" ""
"0000267063" "0" "10" "6" "70961833" "70961833" "subst" "0.371275" "02325" "COL9A1_000009" "g.70961833T>C" "" "" "" "COL9A1(NM_001851.6):c.1862A>G (p.Q621R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70252130T>C" "" "benign" ""
"0000268502" "0" "10" "6" "70983805" "70983805" "subst" "0.0105125" "02329" "COL9A1_000035" "g.70983805C>A" "" "" "" "COL9A1(NM_001851.6):c.1030-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70274102C>A" "" "benign" ""
"0000268503" "0" "10" "6" "70961833" "70961833" "subst" "0.371275" "02329" "COL9A1_000009" "g.70961833T>C" "" "" "" "COL9A1(NM_001851.6):c.1862A>G (p.Q621R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70252130T>C" "" "benign" ""
"0000268505" "0" "10" "6" "70944257" "70944257" "subst" "0.038879" "02329" "COL9A1_000005" "g.70944257T>C" "" "" "" "COL9A1(NM_001851.4):c.2299A>G (p.(Met767Val)), COL9A1(NM_001851.6):c.2299A>G (p.M767V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70234554T>C" "" "benign" ""
"0000268506" "0" "30" "6" "70993430" "70993430" "subst" "0" "02329" "COL9A1_000040" "g.70993430G>A" "" "" "" "COL9A1(NM_001851.6):c.780+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70283727G>A" "" "likely benign" ""
"0000268507" "0" "10" "6" "70991080" "70991080" "subst" "0.0459941" "02329" "COL9A1_000022" "g.70991080G>A" "" "" "" "COL9A1(NM_001851.6):c.876+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70281377G>A" "" "benign" ""
"0000274301" "0" "50" "6" "70983763" "70983763" "subst" "1.7287E-5" "01943" "COL9A1_000033" "g.70983763G>A" "" "" "" "COL9A1(NM_001851.4):c.1052C>T (p.S351L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70274060G>A" "" "VUS" ""
"0000274302" "0" "50" "6" "70980049" "70980049" "subst" "0" "01943" "COL9A1_000032" "g.70980049G>A" "" "" "" "COL9A1(NM_001851.4):c.1165C>T (p.P389S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70270346G>A" "" "VUS" ""
"0000274303" "0" "70" "6" "70976464" "70976464" "subst" "0" "01943" "COL9A1_000031" "g.70976464C>T" "" "" "" "COL9A1(NM_001851.4):c.1297G>A (p.G433R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70266761C>T" "" "likely pathogenic" ""
"0000274304" "0" "50" "6" "70944597" "70944597" "subst" "0.000438939" "01943" "COL9A1_000006" "g.70944597C>T" "" "" "" "COL9A1(NM_001851.4):c.2159G>A (p.R720Q), COL9A1(NM_001851.6):c.2159G>A (p.(Arg720Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70234894C>T" "" "VUS" ""
"0000274305" "0" "50" "6" "70926629" "70926629" "subst" "8.12968E-6" "01943" "COL9A1_000070" "g.70926629G>A" "" "" "" "COL9A1(NM_001851.4):c.2737C>T (p.R913*, p.(Arg913*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70216926G>A" "" "VUS" ""
"0000274306" "0" "50" "6" "71011712" "71011712" "subst" "7.06309E-5" "01943" "COL9A1_000045" "g.71011712C>T" "" "" "" "COL9A1(NM_001851.4):c.80G>A (p.R27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70302009C>T" "" "VUS" ""
"0000274307" "0" "30" "6" "70991159" "70991159" "subst" "4.13599E-6" "01943" "COL9A1_000038" "g.70991159G>C" "" "" "" "COL9A1(NM_001851.4):c.810C>G (p.P270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70281456G>C" "" "likely benign" ""
"0000274308" "0" "30" "6" "70991138" "70991138" "subst" "0.000176166" "01943" "COL9A1_000037" "g.70991138G>T" "" "" "" "COL9A1(NM_001851.4):c.831C>A (p.P277=), COL9A1(NM_001851.6):c.831C>A (p.P277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70281435G>T" "" "likely benign" ""
"0000274309" "0" "50" "6" "70990717" "70990717" "subst" "0.000719117" "01943" "COL9A1_000036" "g.70990717G>A" "" "" "" "COL9A1(NM_001851.4):c.902C>T (p.P301L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70281014G>A" "" "VUS" ""
"0000338642" "0" "10" "6" "70951103" "70951103" "subst" "0.150227" "02327" "COL9A1_000019" "g.70951103A>G" "" "" "" "COL9A1(NM_001851.6):c.2034+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70241400A>G" "" "benign" ""
"0000338643" "0" "10" "6" "70979324" "70979324" "subst" "0.149097" "02327" "COL9A1_000012" "g.70979324A>G" "" "" "" "COL9A1(NM_001851.6):c.1230+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70269621A>G" "" "benign" ""
"0000338644" "0" "10" "6" "70991080" "70991080" "subst" "0.0459941" "02327" "COL9A1_000022" "g.70991080G>A" "" "" "" "COL9A1(NM_001851.6):c.876+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70281377G>A" "" "benign" ""
"0000338646" "0" "10" "6" "71010101" "71010101" "subst" "0.168279" "02327" "COL9A1_000017" "g.71010101A>G" "" "" "" "COL9A1(NM_001851.4):c.89-12T>C, COL9A1(NM_001851.6):c.89-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70300398A>G" "" "benign" ""
"0000340396" "0" "10" "6" "70944285" "70944285" "subst" "0.025103" "02327" "COL9A1_000018" "g.70944285C>T" "" "" "" "COL9A1(NM_001851.6):c.2271G>A (p.P757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70234582C>T" "" "benign" ""
"0000340397" "0" "10" "6" "70963124" "70963124" "subst" "0.124554" "02327" "COL9A1_000020" "g.70963124A>C" "" "" "" "COL9A1(NM_001851.6):c.1728T>G (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253421A>C" "" "benign" ""
"0000340398" "0" "10" "6" "70981786" "70981786" "subst" "0.0443885" "02327" "COL9A1_000021" "g.70981786A>G" "" "" "" "COL9A1(NM_001851.6):c.1071T>C (p.(Arg357=), p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70272083A>G" "" "benign" ""
"0000344920" "0" "10" "6" "70961833" "70961833" "subst" "0.371275" "02327" "COL9A1_000009" "g.70961833T>C" "" "" "" "COL9A1(NM_001851.6):c.1862A>G (p.Q621R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70252130T>C" "" "benign" ""
"0000347896" "0" "10" "6" "70944257" "70944257" "subst" "0.038879" "02327" "COL9A1_000005" "g.70944257T>C" "" "" "" "COL9A1(NM_001851.4):c.2299A>G (p.(Met767Val)), COL9A1(NM_001851.6):c.2299A>G (p.M767V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70234554T>C" "" "benign" ""
"0000348949" "0" "10" "6" "70984436" "70984436" "subst" "0.394514" "02327" "COL9A1_000015" "g.70984436A>G" "" "" "" "COL9A1(NM_001851.4):c.1015T>C (p.S339P), COL9A1(NM_001851.6):c.1015T>C (p.S339P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70274733A>G" "" "benign" ""
"0000438694" "3" "90" "6" "70965078" "70965078" "subst" "0" "02414" "COL9A1_000046" "g.70965078G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.70255375G>A" "" "pathogenic" ""
"0000480115" "3" "70" "6" "70948189" "70997278" "del" "0" "02404" "COL9A1_000047" "g.70948189_70997278del" "" "{PMID:Hofrichter 2019:31315069}" "" "" "homozygous deletion detected via exome-based CNV analysis" "Germline" "yes" "" "0" "" "" "g.70238486_70287575del" "" "pathogenic (recessive)" ""
"0000529399" "0" "30" "6" "70926762" "70926762" "subst" "4.11594E-6" "01943" "COL9A1_000048" "g.70926762A>G" "" "" "" "COL9A1(NM_001851.4):c.2604T>C (p.Y868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70217059A>G" "" "likely benign" ""
"0000529401" "0" "30" "6" "70935654" "70935654" "subst" "0.00218154" "01943" "COL9A1_000003" "g.70935654A>G" "" "" "" "COL9A1(NM_001851.4):c.2562T>C (p.P854=), COL9A1(NM_001851.6):c.2562T>C (p.P854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70225951A>G" "" "likely benign" ""
"0000529403" "0" "30" "6" "70944257" "70944257" "subst" "0.038879" "01804" "COL9A1_000005" "g.70944257T>C" "" "" "" "COL9A1(NM_001851.4):c.2299A>G (p.(Met767Val)), COL9A1(NM_001851.6):c.2299A>G (p.M767V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70234554T>C" "" "likely benign" ""
"0000529404" "0" "10" "6" "70944285" "70944285" "subst" "0.025103" "02329" "COL9A1_000018" "g.70944285C>T" "" "" "" "COL9A1(NM_001851.6):c.2271G>A (p.P757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70234582C>T" "" "benign" ""
"0000529405" "0" "30" "6" "70944489" "70944489" "subst" "5.29165E-5" "01943" "COL9A1_000051" "g.70944489C>G" "" "" "" "COL9A1(NM_001851.4):c.2259+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70234786C>G" "" "likely benign" ""
"0000529406" "0" "10" "6" "70950385" "70950385" "dup" "0" "02329" "COL9A1_000008" "g.70950385dup" "" "" "" "COL9A1(NM_001851.6):c.2079+16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70240682dup" "" "benign" ""
"0000529407" "0" "50" "6" "70951719" "70951719" "subst" "0.000246835" "02330" "COL9A1_000052" "g.70951719C>G" "" "" "" "COL9A1(NM_001851.6):c.1946G>C (p.G649A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70242016C>G" "" "VUS" ""
"0000529408" "0" "30" "6" "70961955" "70961958" "dup" "0" "02329" "COL9A1_000053" "g.70961955_70961958dup" "" "" "" "COL9A1(NM_001851.6):c.1818+7_1818+10dupCACC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70252252_70252255dup" "" "likely benign" ""
"0000529409" "0" "50" "6" "70970397" "70970397" "subst" "0" "01943" "COL9A1_000054" "g.70970397C>G" "" "" "" "COL9A1(NM_001851.4):c.1412G>C (p.R471P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70260694C>G" "" "VUS" ""
"0000529410" "0" "50" "6" "70970397" "70970397" "subst" "2.43833E-5" "01943" "COL9A1_000055" "g.70970397C>T" "" "" "" "COL9A1(NM_001851.4):c.1412G>A (p.R471Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70260694C>T" "" "VUS" ""
"0000529411" "0" "30" "6" "70972993" "70972993" "subst" "0" "01943" "COL9A1_000056" "g.70972993T>C" "" "" "" "COL9A1(NM_001851.4):c.1349A>G (p.E450G, p.(Glu450Gly)), COL9A1(NM_001851.6):c.1349A>G (p.E450G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70263290T>C" "" "likely benign" ""
"0000529412" "0" "30" "6" "70972993" "70972993" "subst" "0" "01804" "COL9A1_000056" "g.70972993T>C" "" "" "" "COL9A1(NM_001851.4):c.1349A>G (p.E450G, p.(Glu450Gly)), COL9A1(NM_001851.6):c.1349A>G (p.E450G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70263290T>C" "" "likely benign" ""
"0000529413" "0" "10" "6" "70973023" "70973027" "dup" "0" "02330" "COL9A1_000057" "g.70973023_70973027dup" "" "" "" "COL9A1(NM_001851.6):c.1342-22_1342-18dupCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70263320_70263324dup" "" "benign" ""
"0000529414" "0" "50" "6" "70976439" "70976439" "subst" "8.12427E-6" "01943" "COL9A1_000058" "g.70976439G>T" "" "" "" "COL9A1(NM_001851.4):c.1322C>A (p.P441Q), COL9A1(NM_001851.6):c.1322C>A (p.(Pro441Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70266736G>T" "" "VUS" ""
"0000529415" "0" "30" "6" "70976482" "70976482" "subst" "0.000251871" "01943" "COL9A1_000059" "g.70976482T>C" "" "" "" "COL9A1(NM_001851.4):c.1288-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70266779T>C" "" "likely benign" ""
"0000529416" "0" "30" "6" "70981759" "70981759" "subst" "0.0019896" "01943" "COL9A1_000060" "g.70981759G>C" "" "" "" "COL9A1(NM_001377289.1):c.360+9C>G, COL9A1(NM_001851.4):c.1089+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70272056G>C" "" "likely benign" ""
"0000529417" "0" "10" "6" "70981786" "70981786" "subst" "0.0443885" "02329" "COL9A1_000021" "g.70981786A>G" "" "" "" "COL9A1(NM_001851.6):c.1071T>C (p.(Arg357=), p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70272083A>G" "" "benign" ""
"0000529418" "0" "30" "6" "70981789" "70981789" "subst" "0" "01943" "COL9A1_000061" "g.70981789G>A" "" "" "" "COL9A1(NM_001851.4):c.1068C>T (p.G356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70272086G>A" "" "likely benign" ""
"0000529419" "0" "30" "6" "70981794" "70981794" "subst" "0.0376851" "01804" "COL9A1_000014" "g.70981794A>G" "" "" "" "COL9A1(NM_001851.4):c.1066-3T>C (p.?), COL9A1(NM_001851.6):c.1066-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70272091A>G" "" "likely benign" ""
"0000529420" "0" "10" "6" "70990715" "70990715" "subst" "0.00214702" "02330" "COL9A1_000062" "g.70990715C>T" "" "" "" "COL9A1(NM_001851.4):c.904G>A (p.(Gly302Ser)), COL9A1(NM_001851.6):c.904G>A (p.G302S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70281012C>T" "" "benign" ""
"0000529421" "0" "90" "6" "70991091" "70991091" "dup" "0" "01943" "COL9A1_000023" "g.70991091dup" "" "" "" "COL9A1(NM_001851.4):c.876+2dupT, COL9A1(NM_001851.6):c.876+2dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70281388dup" "" "pathogenic" ""
"0000529422" "0" "10" "6" "70992590" "70992590" "subst" "0.000982725" "02330" "COL9A1_000063" "g.70992590C>G" "" "" "" "COL9A1(NM_001851.6):c.801+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70282887C>G" "" "benign" ""
"0000529423" "0" "30" "6" "70992607" "70992607" "subst" "0.00023148" "02329" "COL9A1_000039" "g.70992607G>C" "" "" "" "COL9A1(NM_001851.4):c.795C>G (p.T265=), COL9A1(NM_001851.6):c.795C>G (p.T265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70282904G>C" "" "likely benign" ""
"0000529424" "0" "50" "6" "70993507" "70993507" "subst" "0" "02330" "COL9A1_000064" "g.70993507A>G" "" "" "" "COL9A1(NM_001851.6):c.713T>C (p.M238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70283804A>G" "" "VUS" ""
"0000529425" "0" "50" "6" "71003878" "71003878" "subst" "0" "01943" "COL9A1_000065" "g.71003878A>T" "" "" "" "COL9A1(NM_001851.4):c.688T>A (p.S230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70294175A>T" "" "VUS" ""
"0000529426" "0" "10" "6" "71003921" "71003921" "subst" "2.43797E-5" "02330" "COL9A1_000066" "g.71003921A>G" "" "" "" "COL9A1(NM_001851.6):c.645T>C (p.D215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70294218A>G" "" "benign" ""
"0000529427" "0" "30" "6" "71004106" "71004106" "subst" "0.000300583" "01943" "COL9A1_000041" "g.71004106C>G" "" "" "" "COL9A1(NM_001851.4):c.460G>C (p.V154L), COL9A1(NM_001851.6):c.460G>C (p.V154L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70294403C>G" "" "likely benign" ""
"0000529428" "0" "50" "6" "71004261" "71004261" "subst" "4.09299E-6" "01943" "COL9A1_000067" "g.71004261A>G" "" "" "" "COL9A1(NM_001851.4):c.305T>C (p.L102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70294558A>G" "" "VUS" ""
"0000529429" "0" "30" "6" "71010007" "71010007" "subst" "8.94171E-5" "01943" "COL9A1_000043" "g.71010007C>T" "" "" "" "COL9A1(NM_001851.4):c.166+5G>A, COL9A1(NM_001851.6):c.166+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70300304C>T" "" "likely benign" ""
"0000529430" "0" "30" "6" "71011705" "71011705" "subst" "0" "01943" "COL9A1_000068" "g.71011705G>A" "" "" "" "COL9A1(NM_001851.4):c.87C>T (p.P29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70302002G>A" "" "likely benign" ""
"0000529431" "0" "30" "6" "71012611" "71012611" "subst" "0.00015025" "01943" "COL9A1_000069" "g.71012611T>C" "" "" "" "COL9A1(NM_001851.4):c.14+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70302908T>C" "" "likely benign" ""
"0000578435" "1" "95" "6" "70992599" "70992599" "dup" "0" "00000" "COL9A1_000001" "g.70992599dup" "" "{PMID:Czarny-Ratajczak 2001:11565064}, {OMIM120210:0001}" "" "IVS8+3" "not in 600 control chromosomes; normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.70282896dup" "" "pathogenic (dominant)" ""
"0000578436" "3" "55" "6" "70990736" "70990736" "subst" "0" "00000" "COL9A1_000002" "g.70990736G>A" "" "{PMID:Van Camp 2006:16909383}, {OMIM120210:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.70281033G>A" "" "VUS" ""
"0000610423" "0" "50" "6" "70944296" "70944296" "subst" "0" "02327" "COL9A1_000072" "g.70944296C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70234593C>G" "" "VUS" ""
"0000610424" "0" "50" "6" "70964698" "70964698" "subst" "4.0622E-5" "01943" "COL9A1_000073" "g.70964698G>A" "" "" "" "COL9A1(NM_001851.4):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70254995G>A" "" "VUS" ""
"0000610425" "0" "50" "6" "70965044" "70965044" "subst" "0.000235671" "01943" "COL9A1_000028" "g.70965044T>A" "" "" "" "COL9A1(NM_001851.4):c.1553A>T (p.D518V), COL9A1(NM_001851.6):c.1553A>T (p.D518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70255341T>A" "" "VUS" ""
"0000610426" "0" "70" "6" "70980041" "70980041" "del" "0" "01804" "COL9A1_000074" "g.70980041del" "" "" "" "COL9A1(NM_001851.4):c.1178del (p.(Pro393LeufsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70270338del" "" "likely pathogenic" ""
"0000610427" "0" "30" "6" "70981759" "70981759" "subst" "0.0019896" "02330" "COL9A1_000060" "g.70981759G>C" "" "" "" "COL9A1(NM_001377289.1):c.360+9C>G, COL9A1(NM_001851.4):c.1089+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70272056G>C" "" "likely benign" ""
"0000610428" "0" "30" "6" "70983762" "70983762" "subst" "0.000199471" "01943" "COL9A1_000075" "g.70983762C>T" "" "" "" "COL9A1(NM_001851.4):c.1053G>A (p.S351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70274059C>T" "" "likely benign" ""
"0000610429" "0" "30" "6" "70992607" "70992607" "subst" "0.00023148" "01943" "COL9A1_000039" "g.70992607G>C" "" "" "" "COL9A1(NM_001851.4):c.795C>G (p.T265=), COL9A1(NM_001851.6):c.795C>G (p.T265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70282904G>C" "" "likely benign" ""
"0000610430" "0" "50" "6" "71004042" "71004044" "del" "0" "01804" "COL9A1_000076" "g.71004042_71004044del" "" "" "" "COL9A1(NM_001851.4):c.522_524del (p.(Leu175del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70294339_70294341del" "" "VUS" ""
"0000652031" "1" "30" "6" "70926371" "70926371" "subst" "0" "03575" "COL9A1_000077" "g.70926371A>G" "209/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "209 heterozygous; {DB:CLININrs2459555}" "Germline" "" "rs2459555" "0" "" "" "g.70216668A>G" "" "likely benign" ""
"0000652032" "1" "50" "6" "70944597" "70944597" "subst" "0.000438939" "03575" "COL9A1_000006" "g.70944597C>T" "5/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs192467838}" "Germline" "" "rs192467838" "0" "" "" "g.70234894C>T" "" "VUS" ""
"0000652033" "1" "30" "6" "70972993" "70972993" "subst" "0" "03575" "COL9A1_000056" "g.70972993T>C" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs77706858}" "Germline" "" "rs77706858" "0" "" "" "g.70263290T>C" "" "likely benign" ""
"0000652034" "1" "50" "6" "70981371" "70981371" "subst" "0.000239744" "03575" "COL9A1_000078" "g.70981371C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142328549}" "Germline" "" "rs142328549" "0" "" "" "g.70271668C>T" "" "VUS" ""
"0000655638" "0" "70" "6" "71011703" "71011703" "subst" "4.18095E-6" "02330" "COL9A1_000079" "g.71011703C>T" "" "" "" "COL9A1(NM_001851.6):c.88+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70302000C>T" "" "likely pathogenic" ""
"0000669930" "3" "30" "6" "70926371" "70926371" "subst" "0" "03575" "COL9A1_000077" "g.70926371A>G" "7/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs2459555}" "Germline" "" "rs2459555" "0" "" "" "g.70216668A>G" "" "likely benign" ""
"0000677837" "0" "50" "6" "70964697" "70964697" "subst" "0.000121863" "01943" "COL9A1_000080" "g.70964697C>T" "" "" "" "COL9A1(NM_001851.4):c.1634G>A (p.R545H), COL9A1(NM_001851.6):c.1634G>A (p.(Arg545His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000677838" "0" "50" "6" "70966518" "70966518" "subst" "1.21937E-5" "01804" "COL9A1_000081" "g.70966518G>A" "" "" "" "COL9A1(NM_001851.4):c.1456C>T (p.(Arg486Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000677839" "0" "50" "6" "70970391" "70970391" "subst" "3.25058E-5" "01943" "COL9A1_000082" "g.70970391A>G" "" "" "" "COL9A1(NM_001851.4):c.1418T>C (p.I473T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000677840" "0" "30" "6" "70978580" "70978580" "subst" "2.04125E-5" "01943" "COL9A1_000083" "g.70978580G>A" "" "" "" "COL9A1(NM_001851.4):c.1231-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000677841" "0" "50" "6" "70979365" "70979365" "subst" "3.66685E-5" "01943" "COL9A1_000084" "g.70979365T>C" "" "" "" "COL9A1(NM_001851.4):c.1201A>G (p.T401A, p.(Thr401Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000677842" "0" "30" "6" "70979365" "70979365" "subst" "3.66685E-5" "01804" "COL9A1_000084" "g.70979365T>C" "" "" "" "COL9A1(NM_001851.4):c.1201A>G (p.T401A, p.(Thr401Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000677843" "0" "50" "6" "70981355" "70981355" "subst" "0" "01943" "COL9A1_000085" "g.70981355C>A" "" "" "" "COL9A1(NM_001851.4):c.1143+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000677844" "0" "10" "6" "70984436" "70984436" "subst" "0.394514" "01943" "COL9A1_000015" "g.70984436A>G" "" "" "" "COL9A1(NM_001851.4):c.1015T>C (p.S339P), COL9A1(NM_001851.6):c.1015T>C (p.S339P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000677845" "0" "50" "6" "71003892" "71003892" "subst" "0.000251994" "01943" "COL9A1_000086" "g.71003892T>A" "" "" "" "COL9A1(NM_001851.4):c.674A>T (p.D225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000677846" "0" "30" "6" "71010040" "71010040" "subst" "0.000495665" "01943" "COL9A1_000044" "g.71010040C>T" "" "" "" "COL9A1(NM_001851.4):c.138G>A (p.K46=), COL9A1(NM_001851.6):c.138G>A (p.K46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000677847" "0" "10" "6" "71010101" "71010101" "subst" "0.168279" "01943" "COL9A1_000017" "g.71010101A>G" "" "" "" "COL9A1(NM_001851.4):c.89-12T>C, COL9A1(NM_001851.6):c.89-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000677848" "0" "30" "6" "71011749" "71011749" "subst" "0" "01943" "COL9A1_000087" "g.71011749T>G" "" "" "" "COL9A1(NM_001851.4):c.43A>C (p.S15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689779" "0" "30" "6" "70942319" "70942319" "subst" "0.00433574" "01804" "COL9A1_000088" "g.70942319G>T" "" "" "" "COL9A1(NM_001851.4):c.2470C>A (p.(Pro824Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689780" "0" "30" "6" "70952359" "70952359" "subst" "8.12434E-6" "02329" "COL9A1_000089" "g.70952359A>C" "" "" "" "COL9A1(NM_001851.4):c.1926+6T>G (p.?), COL9A1(NM_001851.6):c.1926+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689781" "0" "30" "6" "70972933" "70972933" "subst" "0.000912929" "02329" "COL9A1_000029" "g.70972933A>T" "" "" "" "COL9A1(NM_001851.6):c.1395+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689782" "0" "10" "6" "70973023" "70973027" "dup" "0" "02329" "COL9A1_000057" "g.70973023_70973027dup" "" "" "" "COL9A1(NM_001851.6):c.1342-22_1342-18dupCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000689783" "0" "30" "6" "70976444" "70976444" "subst" "1.21862E-5" "02329" "COL9A1_000090" "g.70976444A>G" "" "" "" "COL9A1(NM_001851.4):c.1317T>C (p.G439=), COL9A1(NM_001851.6):c.1317T>C (p.G439=), COL9A1(NM_078485.4):c.588T>C (p.G196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689784" "0" "50" "6" "70983760" "70983760" "subst" "7.37067E-5" "01804" "COL9A1_000091" "g.70983760C>T" "" "" "" "COL9A1(NM_001851.4):c.1055G>A (p.(Arg352His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000689785" "0" "90" "6" "71004247" "71004247" "del" "0" "01943" "COL9A1_000092" "g.71004247del" "" "" "" "COL9A1(NM_001851.4):c.319delC (p.L107Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000689786" "0" "50" "6" "71004249" "71004249" "subst" "0" "01804" "COL9A1_000093" "g.71004249C>A" "" "" "" "COL9A1(NM_001851.4):c.317G>T (p.(Gly106Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721045" "0" "50" "6" "70926648" "70926648" "subst" "0" "01943" "COL9A1_000094" "g.70926648G>T" "" "" "" "COL9A1(NM_001851.4):c.2718C>A (p.C906*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721046" "0" "50" "6" "70942385" "70942385" "subst" "8.15268E-6" "01943" "COL9A1_000095" "g.70942385C>T" "" "" "" "COL9A1(NM_001851.4):c.2404G>A (p.G802S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721047" "0" "30" "6" "70990715" "70990715" "subst" "0.00214702" "01804" "COL9A1_000062" "g.70990715C>T" "" "" "" "COL9A1(NM_001851.4):c.904G>A (p.(Gly302Ser)), COL9A1(NM_001851.6):c.904G>A (p.G302S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721048" "0" "50" "6" "70990717" "70990725" "dup" "0" "01943" "COL9A1_000096" "g.70990717_70990725dup" "" "" "" "COL9A1(NM_001851.4):c.912+1_912+2insCCGGGGGGC, COL9A1(NM_001851.6):c.905_912+1dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000759982" "0" "50" "6" "70972993" "70972993" "subst" "0" "00000" "COL9A1_000056" "g.70972993T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.70263290T>C" "" "VUS" ""
"0000760041" "0" "50" "6" "70944597" "70944597" "subst" "0.000438939" "00000" "COL9A1_000006" "g.70944597C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.70234894C>T" "" "VUS" ""
"0000760092" "0" "50" "6" "70972993" "70972993" "subst" "0" "00000" "COL9A1_000056" "g.70972993T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.70263290T>C" "" "VUS" ""
"0000802681" "0" "30" "6" "70951140" "70951140" "subst" "0" "01943" "COL9A1_000097" "g.70951140C>A" "" "" "" "COL9A1(NM_001851.4):c.2016G>T (p.P672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802682" "0" "30" "6" "70966516" "70966516" "subst" "0.000207245" "01943" "COL9A1_000098" "g.70966516C>G" "" "" "" "COL9A1(NM_001851.4):c.1458G>C (p.R486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802683" "0" "50" "6" "70970381" "70970381" "subst" "0" "01943" "COL9A1_000099" "g.70970381T>C" "" "" "" "COL9A1(NM_001851.4):c.1428A>G (p.I476M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802684" "0" "30" "6" "70973014" "70973014" "dup" "0" "02330" "COL9A1_000100" "g.70973014dup" "" "" "" "COL9A1(NM_078485.4):c.613-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802685" "0" "50" "6" "70978523" "70978523" "subst" "0" "01804" "COL9A1_000101" "g.70978523C>G" "" "" "" "COL9A1(NM_001851.4):c.1271G>C (p.(Gly424Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802686" "0" "50" "6" "71003965" "71003965" "subst" "0.0001016" "01943" "COL9A1_000102" "g.71003965T>A" "" "" "" "COL9A1(NM_001851.4):c.601A>T (p.I201F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802687" "0" "30" "6" "71011729" "71011729" "subst" "0.000107369" "01943" "COL9A1_000103" "g.71011729T>A" "" "" "" "COL9A1(NM_001851.4):c.63A>T (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000816265" "0" "50" "6" "70942428" "70942429" "del" "0" "00000" "COL9A1_000104" "g.70942428_70942429del" "" "{PMID:Zampaglione 2020:32037395}" "" "COL9A1 c.2361_2362del, p.Ala788HisfsTer34" "unsolved" "Unknown" "?" "" "0" "" "" "g.70232725_70232726del" "" "VUS" ""
"0000851276" "0" "30" "6" "70976444" "70976444" "subst" "1.21862E-5" "02330" "COL9A1_000090" "g.70976444A>G" "" "" "" "COL9A1(NM_001851.4):c.1317T>C (p.G439=), COL9A1(NM_001851.6):c.1317T>C (p.G439=), COL9A1(NM_078485.4):c.588T>C (p.G196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851277" "0" "50" "6" "71004213" "71004213" "subst" "0.000175061" "01943" "COL9A1_000107" "g.71004213C>T" "" "" "" "COL9A1(NM_001851.4):c.353G>A (p.R118Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000851278" "0" "30" "6" "71004271" "71004271" "subst" "0" "01943" "COL9A1_000108" "g.71004271G>T" "" "" "" "COL9A1(NM_001851.4):c.300-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860479" "0" "50" "6" "70926748" "70926748" "subst" "1.64436E-5" "01943" "COL9A1_000105" "g.70926748C>A" "" "" "" "COL9A1(NM_001851.4):c.2618G>T (p.R873L, p.(Arg873Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860480" "0" "50" "6" "70926748" "70926748" "subst" "1.64436E-5" "01804" "COL9A1_000105" "g.70926748C>A" "" "" "" "COL9A1(NM_001851.4):c.2618G>T (p.R873L, p.(Arg873Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860481" "0" "30" "6" "70952359" "70952359" "subst" "8.12434E-6" "01943" "COL9A1_000089" "g.70952359A>C" "" "" "" "COL9A1(NM_001851.4):c.1926+6T>G (p.?), COL9A1(NM_001851.6):c.1926+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860482" "0" "30" "6" "70976444" "70976444" "subst" "1.21862E-5" "01943" "COL9A1_000090" "g.70976444A>G" "" "" "" "COL9A1(NM_001851.4):c.1317T>C (p.G439=), COL9A1(NM_001851.6):c.1317T>C (p.G439=), COL9A1(NM_078485.4):c.588T>C (p.G196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860483" "0" "90" "6" "70990736" "70990736" "subst" "0" "02327" "COL9A1_000002" "g.70990736G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000860484" "0" "50" "6" "70993433" "70993433" "subst" "0.000167591" "02330" "COL9A1_000106" "g.70993433G>T" "" "" "" "COL9A1(NM_001851.4):c.780+7C>A, COL9A1(NM_001851.6):c.780+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860485" "0" "30" "6" "70993433" "70993433" "subst" "0.000167591" "01943" "COL9A1_000106" "g.70993433G>T" "" "" "" "COL9A1(NM_001851.4):c.780+7C>A, COL9A1(NM_001851.6):c.780+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887385" "0" "30" "6" "70950441" "70950441" "subst" "4.46828E-5" "01804" "COL9A1_000109" "g.70950441A>T" "" "" "" "COL9A1(NM_001851.4):c.2035-5T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887386" "0" "30" "6" "70978538" "70978538" "subst" "9.3569E-5" "01804" "COL9A1_000110" "g.70978538C>T" "" "" "" "COL9A1(NM_001851.4):c.1256G>A (p.(Arg419His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887387" "0" "70" "6" "70991091" "70991091" "subst" "6.91878E-5" "02327" "COL9A1_000111" "g.70991091A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000887388" "0" "30" "6" "70991126" "70991126" "subst" "0.000110305" "02330" "COL9A1_000112" "g.70991126G>A" "" "" "" "COL9A1(NM_078485.4):c.114C>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887389" "0" "70" "6" "70993514" "70993514" "subst" "0" "02330" "COL9A1_000113" "g.70993514G>A" "" "" "" "COL9A1(NM_001851.6):c.706C>T (p.Q236*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000912561" "0" "30" "6" "71009993" "71009993" "subst" "0" "02330" "COL9A1_000114" "g.71009993A>G" "" "" "" "COL9A1(NM_001851.6):c.166+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948740" "0" "50" "6" "70942390" "70942390" "subst" "2.0389E-5" "01804" "COL9A1_000115" "g.70942390G>C" "" "" "" "COL9A1(NM_001851.4):c.2399C>G (p.(Pro800Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948741" "0" "30" "6" "70972993" "70972993" "subst" "0" "02329" "COL9A1_000056" "g.70972993T>C" "" "" "" "COL9A1(NM_001851.4):c.1349A>G (p.E450G, p.(Glu450Gly)), COL9A1(NM_001851.6):c.1349A>G (p.E450G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948742" "0" "50" "6" "70991119" "70991119" "subst" "0" "01804" "COL9A1_000116" "g.70991119C>T" "" "" "" "COL9A1(NM_001851.4):c.850G>A (p.(Gly284Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948743" "0" "30" "6" "71011736" "71011736" "subst" "0.000177552" "02330" "COL9A1_000117" "g.71011736G>A" "" "" "" "COL9A1(NM_001851.6):c.56C>T (p.P19L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000954006" "0" "30" "6" "70989351" "70989351" "subst" "0" "03779" "COL9A1_000118" "g.70989351C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs993045120" "0" "" "" "" "" "likely benign" ""
"0000964218" "0" "30" "6" "70952433" "70952433" "subst" "0" "02330" "COL9A1_000119" "g.70952433A>G" "" "" "" "COL9A1(NM_001377289.1):c.1174-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964219" "0" "30" "6" "70964328" "70964328" "subst" "0" "02329" "COL9A1_000120" "g.70964328T>A" "" "" "" "COL9A1(NM_001851.6):c.1666-96A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964220" "0" "50" "6" "70964670" "70964670" "subst" "0" "02329" "COL9A1_000121" "g.70964670G>T" "" "" "" "COL9A1(NM_001851.6):c.1661C>A (p.(Thr554Lys), p.T554K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000964221" "0" "30" "6" "70983888" "70983888" "subst" "0" "02329" "COL9A1_000122" "g.70983888G>T" "" "" "" "COL9A1(NM_001851.6):c.1030-103C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977317" "0" "50" "6" "70935689" "70935689" "subst" "5.69175E-5" "01804" "COL9A1_000123" "g.70935689G>A" "" "" "" "COL9A1(NM_001851.6):c.2527C>T (p.(Arg843Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977318" "0" "50" "6" "70944519" "70944519" "subst" "0" "01804" "COL9A1_000124" "g.70944519A>C" "" "" "" "COL9A1(NM_001851.6):c.2237T>G (p.(Leu746Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977319" "0" "50" "6" "70944597" "70944597" "subst" "0.000438939" "01804" "COL9A1_000006" "g.70944597C>T" "" "" "" "COL9A1(NM_001851.4):c.2159G>A (p.R720Q), COL9A1(NM_001851.6):c.2159G>A (p.(Arg720Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977320" "0" "50" "6" "70964670" "70964670" "subst" "0" "01804" "COL9A1_000121" "g.70964670G>T" "" "" "" "COL9A1(NM_001851.6):c.1661C>A (p.(Thr554Lys), p.T554K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977321" "0" "50" "6" "70964697" "70964697" "subst" "0.000121863" "01804" "COL9A1_000080" "g.70964697C>T" "" "" "" "COL9A1(NM_001851.4):c.1634G>A (p.R545H), COL9A1(NM_001851.6):c.1634G>A (p.(Arg545His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977322" "0" "30" "6" "70966509" "70966509" "subst" "0.000345357" "02330" "COL9A1_000125" "g.70966509C>G" "" "" "" "COL9A1(NM_001377289.1):c.736G>C (p.D246H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977323" "0" "30" "6" "70973013" "70973014" "del" "0" "01804" "COL9A1_000126" "g.70973013_70973014del" "" "" "" "COL9A1(NM_001851.6):c.1342-8_1342-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977324" "0" "10" "6" "70981786" "70981786" "subst" "0.0443885" "01804" "COL9A1_000021" "g.70981786A>G" "" "" "" "COL9A1(NM_001851.6):c.1071T>C (p.(Arg357=), p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000977325" "0" "70" "6" "70991091" "70991091" "dup" "0" "01804" "COL9A1_000023" "g.70991091dup" "" "" "" "COL9A1(NM_001851.4):c.876+2dupT, COL9A1(NM_001851.6):c.876+2dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000995852" "0" "50" "6" "70926629" "70926629" "subst" "8.12968E-6" "01804" "COL9A1_000070" "g.70926629G>A" "" "" "" "COL9A1(NM_001851.4):c.2737C>T (p.R913*, p.(Arg913*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995853" "0" "50" "6" "70944598" "70944598" "subst" "1.62573E-5" "01804" "COL9A1_000127" "g.70944598G>A" "" "" "" "COL9A1(NM_001851.4):c.2158C>T (p.(Arg720Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995854" "0" "30" "6" "70952359" "70952359" "subst" "8.12434E-6" "01804" "COL9A1_000089" "g.70952359A>C" "" "" "" "COL9A1(NM_001851.4):c.1926+6T>G (p.?), COL9A1(NM_001851.6):c.1926+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000995855" "0" "50" "6" "70970356" "70970356" "subst" "0" "01804" "COL9A1_000128" "g.70970356T>G" "" "" "" "COL9A1(NM_001851.4):c.1449+4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995856" "0" "50" "6" "70991095" "70991095" "subst" "4.07266E-6" "01804" "COL9A1_000129" "g.70991095C>G" "" "" "" "COL9A1(NM_001851.4):c.874G>C (p.(Asp292His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025253" "0" "30" "6" "71012644" "71012647" "del" "0" "02330" "COL9A1_000130" "g.71012644_71012647del" "" "" "" "COL9A1(NM_001851.6):c.-17_-14delGAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035873" "0" "50" "6" "70926743" "70926743" "subst" "2.87678E-5" "01804" "COL9A1_000131" "g.70926743C>T" "" "" "" "COL9A1(NM_001851.6):c.2623G>A (p.(Gly875Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035874" "0" "50" "6" "70942441" "70942441" "subst" "6.14447E-5" "01804" "COL9A1_000132" "g.70942441C>T" "" "" "" "COL9A1(NM_001851.6):c.2348G>A (p.(Arg783His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035875" "0" "30" "6" "70966535" "70966535" "dup" "0" "01804" "COL9A1_000133" "g.70966535dup" "" "" "" "COL9A1(NM_001851.6):c.1450-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035876" "0" "50" "6" "70972973" "70972973" "subst" "3.27273E-5" "01804" "COL9A1_000134" "g.70972973C>T" "" "" "" "COL9A1(NM_001851.6):c.1369G>A (p.(Gly457Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035877" "0" "50" "6" "70976439" "70976439" "subst" "8.12427E-6" "01804" "COL9A1_000058" "g.70976439G>T" "" "" "" "COL9A1(NM_001851.4):c.1322C>A (p.P441Q), COL9A1(NM_001851.6):c.1322C>A (p.(Pro441Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035878" "0" "30" "6" "70980008" "70980008" "subst" "2.84629E-5" "01804" "COL9A1_000135" "g.70980008A>G" "" "" "" "COL9A1(NM_001851.6):c.1197+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035879" "0" "50" "6" "70981363" "70981363" "subst" "6.09518E-5" "01804" "COL9A1_000136" "g.70981363G>A" "" "" "" "COL9A1(NM_001851.6):c.1138C>T (p.(Pro380Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035880" "0" "50" "6" "70990717" "70990725" "dup" "0" "01804" "COL9A1_000096" "g.70990717_70990725dup" "" "" "" "COL9A1(NM_001851.4):c.912+1_912+2insCCGGGGGGC, COL9A1(NM_001851.6):c.905_912+1dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes COL9A1
## Count = 184
"{{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}}"
"0000246436" "00005481" "10" "1569" "0" "1569" "0" "c.1569T>A" "r.(?)" "p.(Gly523=)" ""
"0000246463" "00005481" "10" "2562" "0" "2562" "0" "c.2562T>C" "r.(?)" "p.(Pro854=)" ""
"0000246503" "00005481" "10" "2034" "19" "2034" "19" "c.2034+19T>G" "r.(=)" "p.(=)" ""
"0000246504" "00005481" "10" "1395" "14" "1395" "14" "c.1395+14T>A" "r.(=)" "p.(=)" ""
"0000246505" "00005481" "10" "1288" "-4" "1288" "-4" "c.1288-4T>A" "r.spl?" "p.?" ""
"0000246506" "00005481" "10" "1197" "11" "1197" "11" "c.1197+11T>C" "r.(=)" "p.(=)" ""
"0000248323" "00005481" "10" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Ser339Pro)" ""
"0000249101" "00005481" "10" "975" "812" "975" "812" "c.975+812T>C" "r.(=)" "p.(=)" ""
"0000250058" "00005481" "10" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Ser339Pro)" ""
"0000250103" "00005481" "10" "1728" "0" "1728" "0" "c.1728T>G" "r.(?)" "p.(Pro576=)" ""
"0000250209" "00005481" "10" "2034" "19" "2034" "19" "c.2034+19T>C" "r.(=)" "p.(=)" ""
"0000250210" "00005481" "10" "1504" "-14" "1504" "-14" "c.1504-14T>A" "r.(=)" "p.(=)" ""
"0000250211" "00005481" "10" "1230" "12" "1230" "12" "c.1230+12T>C" "r.(=)" "p.(=)" ""
"0000250212" "00005481" "10" "1066" "-3" "1066" "-3" "c.1066-3T>C" "r.spl?" "p.?" ""
"0000250213" "00005481" "10" "89" "-12" "89" "-12" "c.89-12T>C" "r.(=)" "p.(=)" ""
"0000254136" "00005481" "30" "1569" "0" "1569" "0" "c.1569T>A" "r.(?)" "p.(Gly523=)" ""
"0000254440" "00005481" "30" "1992" "0" "1992" "0" "c.1992T>G" "r.(?)" "p.(Gly664=)" ""
"0000264939" "00005481" "10" "1030" "-16" "1030" "-16" "c.1030-16C>G" "r.(=)" "p.(=)" ""
"0000264941" "00005481" "10" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Lys46=)" ""
"0000264942" "00005481" "50" "1553" "0" "1553" "0" "c.1553A>T" "r.(?)" "p.(Asp518Val)" ""
"0000264943" "00005481" "10" "166" "5" "166" "5" "c.166+5G>A" "r.spl?" "p.?" ""
"0000264945" "00005481" "30" "2436" "0" "2436" "0" "c.2436G>T" "r.(?)" "p.(Gln812His)" ""
"0000264946" "00005481" "50" "2617" "0" "2617" "0" "c.2617C>T" "r.(?)" "p.(Arg873Ter)" ""
"0000264947" "00005481" "10" "299" "14" "299" "14" "c.299+14A>C" "r.(=)" "p.(=)" ""
"0000264948" "00005481" "10" "460" "0" "460" "0" "c.460G>C" "r.(?)" "p.(Val154Leu)" ""
"0000264949" "00005481" "10" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Thr265=)" ""
"0000264950" "00005481" "10" "831" "0" "831" "0" "c.831C>A" "r.(?)" "p.(Pro277=)" ""
"0000267063" "00005481" "10" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(Gln621Arg)" ""
"0000268502" "00005481" "10" "1030" "-20" "1030" "-20" "c.1030-20G>T" "r.(=)" "p.(=)" ""
"0000268503" "00005481" "10" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(Gln621Arg)" ""
"0000268505" "00005481" "10" "2299" "0" "2299" "0" "c.2299A>G" "r.(?)" "p.(Met767Val)" ""
"0000268506" "00005481" "30" "780" "10" "780" "10" "c.780+10C>T" "r.(=)" "p.(=)" ""
"0000268507" "00005481" "10" "876" "13" "876" "13" "c.876+13C>T" "r.(=)" "p.(=)" ""
"0000274301" "00005481" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Ser351Leu)" ""
"0000274302" "00005481" "50" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Pro389Ser)" ""
"0000274303" "00005481" "70" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Gly433Arg)" ""
"0000274304" "00005481" "50" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720Gln)" ""
"0000274305" "00005481" "50" "2737" "0" "2737" "0" "c.2737C>T" "r.(?)" "p.(Arg913Ter)" ""
"0000274306" "00005481" "50" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" ""
"0000274307" "00005481" "30" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Pro270=)" ""
"0000274308" "00005481" "30" "831" "0" "831" "0" "c.831C>A" "r.(?)" "p.(Pro277=)" ""
"0000274309" "00005481" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Pro301Leu)" ""
"0000338642" "00005481" "10" "2034" "19" "2034" "19" "c.2034+19T>C" "r.(=)" "p.(=)" ""
"0000338643" "00005481" "10" "1230" "12" "1230" "12" "c.1230+12T>C" "r.(=)" "p.(=)" ""
"0000338644" "00005481" "10" "876" "13" "876" "13" "c.876+13C>T" "r.(=)" "p.(=)" ""
"0000338646" "00005481" "10" "89" "-12" "89" "-12" "c.89-12T>C" "r.(=)" "p.(=)" ""
"0000340396" "00005481" "10" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(Pro757=)" ""
"0000340397" "00005481" "10" "1728" "0" "1728" "0" "c.1728T>G" "r.(?)" "p.(Pro576=)" ""
"0000340398" "00005481" "10" "1071" "0" "1071" "0" "c.1071T>C" "r.(?)" "p.(Arg357=)" ""
"0000344920" "00005481" "10" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(Gln621Arg)" ""
"0000347896" "00005481" "10" "2299" "0" "2299" "0" "c.2299A>G" "r.(?)" "p.(Met767Val)" ""
"0000348949" "00005481" "10" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Ser339Pro)" ""
"0000438694" "00005481" "90" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507*)" ""
"0000480115" "00005481" "70" "697" "-3754" "2112" "769" "c.697-3754_2112+769del" "r.(?)" "p.(Phe233_Ser704del)" "5i_33i"
"0000529399" "00005481" "30" "2604" "0" "2604" "0" "c.2604T>C" "r.(?)" "p.(Tyr868=)" ""
"0000529401" "00005481" "30" "2562" "0" "2562" "0" "c.2562T>C" "r.(?)" "p.(Pro854=)" ""
"0000529403" "00005481" "30" "2299" "0" "2299" "0" "c.2299A>G" "r.(?)" "p.(Met767Val)" ""
"0000529404" "00005481" "10" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(Pro757=)" ""
"0000529405" "00005481" "30" "2259" "8" "2259" "8" "c.2259+8G>C" "r.(=)" "p.(=)" ""
"0000529406" "00005481" "10" "2079" "16" "2079" "16" "c.2079+16dup" "r.(=)" "p.(=)" ""
"0000529407" "00005481" "50" "1946" "0" "1946" "0" "c.1946G>C" "r.(?)" "p.(Gly649Ala)" ""
"0000529408" "00005481" "30" "1818" "7" "1818" "10" "c.1818+7_1818+10dup" "r.(=)" "p.(=)" ""
"0000529409" "00005481" "50" "1412" "0" "1412" "0" "c.1412G>C" "r.(?)" "p.(Arg471Pro)" ""
"0000529410" "00005481" "50" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471Gln)" ""
"0000529411" "00005481" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" ""
"0000529412" "00005481" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" ""
"0000529413" "00005481" "10" "1342" "-22" "1342" "-18" "c.1342-22_1342-18dup" "r.(=)" "p.(=)" ""
"0000529414" "00005481" "50" "1322" "0" "1322" "0" "c.1322C>A" "r.(?)" "p.(Pro441Gln)" ""
"0000529415" "00005481" "30" "1288" "-9" "1288" "-9" "c.1288-9A>G" "r.(=)" "p.(=)" ""
"0000529416" "00005481" "30" "1089" "9" "1089" "9" "c.1089+9C>G" "r.(=)" "p.(=)" ""
"0000529417" "00005481" "10" "1071" "0" "1071" "0" "c.1071T>C" "r.(?)" "p.(Arg357=)" ""
"0000529418" "00005481" "30" "1068" "0" "1068" "0" "c.1068C>T" "r.(?)" "p.(Gly356=)" ""
"0000529419" "00005481" "30" "1066" "-3" "1066" "-3" "c.1066-3T>C" "r.spl?" "p.?" ""
"0000529420" "00005481" "10" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" ""
"0000529421" "00005481" "90" "876" "2" "876" "2" "c.876+2dup" "r.spl?" "p.?" ""
"0000529422" "00005481" "10" "801" "11" "801" "11" "c.801+11G>C" "r.(=)" "p.(=)" ""
"0000529423" "00005481" "30" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Thr265=)" ""
"0000529424" "00005481" "50" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Met238Thr)" ""
"0000529425" "00005481" "50" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Ser230Thr)" ""
"0000529426" "00005481" "10" "645" "0" "645" "0" "c.645T>C" "r.(?)" "p.(Asp215=)" ""
"0000529427" "00005481" "30" "460" "0" "460" "0" "c.460G>C" "r.(?)" "p.(Val154Leu)" ""
"0000529428" "00005481" "50" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Leu102Ser)" ""
"0000529429" "00005481" "30" "166" "5" "166" "5" "c.166+5G>A" "r.spl?" "p.?" ""
"0000529430" "00005481" "30" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Pro29=)" ""
"0000529431" "00005481" "30" "14" "3" "14" "3" "c.14+3A>G" "r.spl?" "p.?" ""
"0000578435" "00005481" "95" "801" "2" "801" "2" "c.801+2dup" "r.[=, 802_876del, 913_975del, 802_876del;913_975del]" "p.del" "7i"
"0000578436" "00005481" "55" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295*)" "9"
"0000610423" "00005481" "50" "2260" "0" "2260" "0" "c.2260G>C" "r.(?)" "p.(Gly754Arg)" ""
"0000610424" "00005481" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" ""
"0000610425" "00005481" "50" "1553" "0" "1553" "0" "c.1553A>T" "r.(?)" "p.(Asp518Val)" ""
"0000610426" "00005481" "70" "1178" "0" "1178" "0" "c.1178del" "r.(?)" "p.(Pro393LeufsTer36)" ""
"0000610427" "00005481" "30" "1089" "9" "1089" "9" "c.1089+9C>G" "r.(=)" "p.(=)" ""
"0000610428" "00005481" "30" "1053" "0" "1053" "0" "c.1053G>A" "r.(?)" "p.(Ser351=)" ""
"0000610429" "00005481" "30" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Thr265=)" ""
"0000610430" "00005481" "50" "522" "0" "524" "0" "c.522_524del" "r.(?)" "p.(Leu175del)" ""
"0000652031" "00005481" "30" "2995" "0" "2995" "0" "c.*229T>C" "r.(=)" "p.(=)" ""
"0000652032" "00005481" "50" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720Gln)" ""
"0000652033" "00005481" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" ""
"0000652034" "00005481" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377His)" ""
"0000655638" "00005481" "70" "88" "1" "88" "1" "c.88+1G>A" "r.spl?" "p.?" ""
"0000669930" "00005481" "30" "2995" "0" "2995" "0" "c.*229T>C" "r.(=)" "p.(=)" ""
"0000677837" "00005481" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" ""
"0000677838" "00005481" "50" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" ""
"0000677839" "00005481" "50" "1418" "0" "1418" "0" "c.1418T>C" "r.(?)" "p.(Ile473Thr)" ""
"0000677840" "00005481" "30" "1231" "-17" "1231" "-17" "c.1231-17C>T" "r.(=)" "p.(=)" ""
"0000677841" "00005481" "50" "1201" "0" "1201" "0" "c.1201A>G" "r.(?)" "p.(Thr401Ala)" ""
"0000677842" "00005481" "30" "1201" "0" "1201" "0" "c.1201A>G" "r.(?)" "p.(Thr401Ala)" ""
"0000677843" "00005481" "50" "1143" "3" "1143" "3" "c.1143+3G>T" "r.spl?" "p.?" ""
"0000677844" "00005481" "10" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Ser339Pro)" ""
"0000677845" "00005481" "50" "674" "0" "674" "0" "c.674A>T" "r.(?)" "p.(Asp225Val)" ""
"0000677846" "00005481" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Lys46=)" ""
"0000677847" "00005481" "10" "89" "-12" "89" "-12" "c.89-12T>C" "r.(=)" "p.(=)" ""
"0000677848" "00005481" "30" "43" "0" "43" "0" "c.43A>C" "r.(?)" "p.(Ser15Arg)" ""
"0000689779" "00005481" "30" "2470" "0" "2470" "0" "c.2470C>A" "r.(?)" "p.(Pro824Thr)" ""
"0000689780" "00005481" "30" "1926" "6" "1926" "6" "c.1926+6T>G" "r.(=)" "p.(=)" ""
"0000689781" "00005481" "30" "1395" "14" "1395" "14" "c.1395+14T>A" "r.(=)" "p.(=)" ""
"0000689782" "00005481" "10" "1342" "-22" "1342" "-18" "c.1342-22_1342-18dup" "r.(=)" "p.(=)" ""
"0000689783" "00005481" "30" "1317" "0" "1317" "0" "c.1317T>C" "r.(?)" "p.(Gly439=)" ""
"0000689784" "00005481" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352His)" ""
"0000689785" "00005481" "90" "319" "0" "319" "0" "c.319del" "r.(?)" "p.(Leu107CysfsTer8)" ""
"0000689786" "00005481" "50" "317" "0" "317" "0" "c.317G>T" "r.(?)" "p.(Gly106Val)" ""
"0000721045" "00005481" "50" "2718" "0" "2718" "0" "c.2718C>A" "r.(?)" "p.(Cys906*)" ""
"0000721046" "00005481" "50" "2404" "0" "2404" "0" "c.2404G>A" "r.(?)" "p.(Gly802Ser)" ""
"0000721047" "00005481" "30" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" ""
"0000721048" "00005481" "50" "905" "0" "912" "1" "c.905_912+1dup" "r.spl?" "p.?" ""
"0000759982" "00005481" "50" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" ""
"0000760041" "00005481" "50" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720Gln)" ""
"0000760092" "00005481" "50" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" ""
"0000802681" "00005481" "30" "2016" "0" "2016" "0" "c.2016G>T" "r.(?)" "p.(Pro672=)" ""
"0000802682" "00005481" "30" "1458" "0" "1458" "0" "c.1458G>C" "r.(?)" "p.(Arg486=)" ""
"0000802683" "00005481" "50" "1428" "0" "1428" "0" "c.1428A>G" "r.(?)" "p.(Ile476Met)" ""
"0000802684" "00005481" "30" "1342" "-7" "1342" "-7" "c.1342-7dup" "r.(=)" "p.(=)" ""
"0000802685" "00005481" "50" "1271" "0" "1271" "0" "c.1271G>C" "r.(?)" "p.(Gly424Ala)" ""
"0000802686" "00005481" "50" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Ile201Phe)" ""
"0000802687" "00005481" "30" "63" "0" "63" "0" "c.63A>T" "r.(?)" "p.(Ala21=)" ""
"0000816265" "00005481" "50" "2361" "0" "2362" "0" "c.2361_2362del" "r.(?)" "p.(Ala788Hisfs*34)" ""
"0000851276" "00005481" "30" "1317" "0" "1317" "0" "c.1317T>C" "r.(?)" "p.(Gly439=)" ""
"0000851277" "00005481" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" ""
"0000851278" "00005481" "30" "300" "-5" "300" "-5" "c.300-5C>A" "r.spl?" "p.?" ""
"0000860479" "00005481" "50" "2618" "0" "2618" "0" "c.2618G>T" "r.(?)" "p.(Arg873Leu)" ""
"0000860480" "00005481" "50" "2618" "0" "2618" "0" "c.2618G>T" "r.(?)" "p.(Arg873Leu)" ""
"0000860481" "00005481" "30" "1926" "6" "1926" "6" "c.1926+6T>G" "r.(=)" "p.(=)" ""
"0000860482" "00005481" "30" "1317" "0" "1317" "0" "c.1317T>C" "r.(?)" "p.(Gly439=)" ""
"0000860483" "00005481" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295*)" ""
"0000860484" "00005481" "50" "780" "7" "780" "7" "c.780+7C>A" "r.(=)" "p.(=)" ""
"0000860485" "00005481" "30" "780" "7" "780" "7" "c.780+7C>A" "r.(=)" "p.(=)" ""
"0000887385" "00005481" "30" "2035" "-5" "2035" "-5" "c.2035-5T>A" "r.spl?" "p.?" ""
"0000887386" "00005481" "30" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419His)" ""
"0000887387" "00005481" "70" "876" "2" "876" "2" "c.876+2T>A" "r.spl?" "p.?" ""
"0000887388" "00005481" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Gly281=)" ""
"0000887389" "00005481" "70" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" ""
"0000912561" "00005481" "30" "166" "19" "166" "19" "c.166+19T>C" "r.(=)" "p.(=)" ""
"0000948740" "00005481" "50" "2399" "0" "2399" "0" "c.2399C>G" "r.(?)" "p.(Pro800Arg)" ""
"0000948741" "00005481" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" ""
"0000948742" "00005481" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" ""
"0000948743" "00005481" "30" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Pro19Leu)" ""
"0000954006" "00005481" "30" "975" "1164" "975" "1164" "c.975+1164G>T" "r.(?)" "p.(?)" ""
"0000964218" "00005481" "30" "1873" "-15" "1873" "-15" "c.1873-15T>C" "r.(=)" "p.(=)" ""
"0000964219" "00005481" "30" "1666" "-96" "1666" "-96" "c.1666-96A>T" "r.(=)" "p.(=)" ""
"0000964220" "00005481" "50" "1661" "0" "1661" "0" "c.1661C>A" "r.(?)" "p.(Thr554Lys)" ""
"0000964221" "00005481" "30" "1030" "-103" "1030" "-103" "c.1030-103C>A" "r.(=)" "p.(=)" ""
"0000977317" "00005481" "50" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Cys)" ""
"0000977318" "00005481" "50" "2237" "0" "2237" "0" "c.2237T>G" "r.(?)" "p.(Leu746Arg)" ""
"0000977319" "00005481" "50" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720Gln)" ""
"0000977320" "00005481" "50" "1661" "0" "1661" "0" "c.1661C>A" "r.(?)" "p.(Thr554Lys)" ""
"0000977321" "00005481" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" ""
"0000977322" "00005481" "30" "1465" "0" "1465" "0" "c.1465G>C" "r.(?)" "p.(Asp489His)" ""
"0000977323" "00005481" "30" "1342" "-8" "1342" "-7" "c.1342-8_1342-7del" "r.(=)" "p.(=)" ""
"0000977324" "00005481" "10" "1071" "0" "1071" "0" "c.1071T>C" "r.(?)" "p.(Arg357=)" ""
"0000977325" "00005481" "70" "876" "2" "876" "2" "c.876+2dup" "r.spl?" "p.?" ""
"0000995852" "00005481" "50" "2737" "0" "2737" "0" "c.2737C>T" "r.(?)" "p.(Arg913Ter)" ""
"0000995853" "00005481" "50" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720Trp)" ""
"0000995854" "00005481" "30" "1926" "6" "1926" "6" "c.1926+6T>G" "r.(=)" "p.(=)" ""
"0000995855" "00005481" "50" "1449" "4" "1449" "4" "c.1449+4A>C" "r.spl?" "p.?" ""
"0000995856" "00005481" "50" "874" "0" "874" "0" "c.874G>C" "r.(?)" "p.(Asp292His)" ""
"0001025253" "00005481" "30" "-17" "0" "-14" "0" "c.-17_-14del" "r.(?)" "p.(=)" ""
"0001035873" "00005481" "50" "2623" "0" "2623" "0" "c.2623G>A" "r.(?)" "p.(Gly875Ser)" ""
"0001035874" "00005481" "50" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783His)" ""
"0001035875" "00005481" "30" "1450" "-5" "1450" "-5" "c.1450-5dup" "r.spl?" "p.?" ""
"0001035876" "00005481" "50" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Gly457Arg)" ""
"0001035877" "00005481" "50" "1322" "0" "1322" "0" "c.1322C>A" "r.(?)" "p.(Pro441Gln)" ""
"0001035878" "00005481" "30" "1197" "9" "1197" "9" "c.1197+9T>C" "r.(=)" "p.(=)" ""
"0001035879" "00005481" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" ""
"0001035880" "00005481" "50" "905" "0" "912" "1" "c.905_912+1dup" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{variantid}}"
"0000208743" "0000438694"
"0000236410" "0000480115"
"0000249626" "0000578435"
"0000249627" "0000578436"
"0000295342" "0000652031"
"0000295343" "0000652032"
"0000295344" "0000652033"
"0000295345" "0000652034"
"0000306242" "0000669930"
"0000360187" "0000759982"
"0000360204" "0000760041"
"0000360216" "0000760092"
"0000388107" "0000816265"