### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL9A3) # 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}}" "COL9A3" "collagen, type IX, alpha 3" "20" "q13.3" "unknown" "NG_016353.1" "UD_132085362560" "" "https://www.LOVD.nl/COL9A3" "" "1" "2219" "1299" "120270" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-12-07 19:27:45" "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}}" "00005483" "COL9A3" "collagen, type IX, alpha 3" "001" "NM_001853.3" "" "NP_001844.3" "" "" "" "-3" "2482" "2055" "61448414" "61472511" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "00621" "STL4" "Stickler syndrome, type IV (STL-4)" "" "614134" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02328" "EDM3" "dysplasia, epiphyseal, multiple, type 3 (EDM-3)" "AD" "600969" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02474" "IDD" "intervertebral disc disease (IDD)" "" "603932" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-03-13 12:24:43" "04224" "STL" "Stickler syndrome (STL)" "" "" "" "" "" "00006" "2015-03-13 12:21:54" "" "" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05631" "-" "lumbar stenosis, familial" "" "152550" "" "" "" "00008" "2019-07-24 14:19:55" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COL9A3" "02328" "COL9A3" "02474" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00132291" "" "" "" "8" "" "00088" "{PMID:Eisenberger 2018:29309402}" "4-generation family, 8 affected (4F, 4M)" "M" "no" "Germany" "" "0" "" "" "white" "FamPatIV2" "00207706" "" "" "" "2" "" "02414" "" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00207707" "" "" "00207706" "1" "" "02414" "" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00228149" "" "" "" "1" "" "00006" "{PMID:Mahfood 2019:30758234}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "FamPatII3" "00248490" "" "" "" "7" "" "00000" "" "4-generation family, 7 affecteds" "" "" "" "" "0" "" "" "" "" "00248491" "" "" "" "1" "" "00000" "" "" "" "" "Finland" "" "0" "" "" "" "" "00248492" "" "" "" "3" "" "00000" "" "3-generation family, 3 affecteds" "" "" "" "" "0" "" "" "" "" "00248493" "" "" "" "11" "" "00000" "" "4-generation family, 11 affecteds" "" "" "" "" "0" "" "" "" "" "00248494" "" "" "" "5" "" "00000" "" "3-generation family, 5 affecteds" "" "" "Japan" "" "0" "" "" "" "" "00248495" "" "" "" "8" "" "00000" "" "5-generation family, 8 affecteds" "" "" "" "" "0" "" "" "" "" "00248496" "" "" "" "2" "" "00000" "" "father and 2 affected daughters" "" "" "Japan" "" "0" "" "" "" "" "00248497" "" "" "" "3" "" "00000" "" "mother and affected son" "" "" "Korea" "" "0" "" "" "" "" "00248498" "" "" "" "1" "" "00000" "" "" "" "yes" "" "" "0" "" "" "" "" "00248499" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248500" "" "" "" "6" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248501" "" "" "" "4" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248502" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248503" "" "" "" "6" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248504" "" "" "" "4" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248505" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248506" "" "" "" "79" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00248508" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00292961" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299638" "" "" "" "1" "" "03446" "" "" "M" "no" "Russia" "03y" "" "" "" "" "" "00304867" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363190" "" "" "" "1" "" "02404" "{PMID:Rad 2022:35241111}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Iran" "" "0" "" "" "" "Family 1" "00363191" "" "" "" "2" "" "02404" "{PMID:Rad 2022:35241111}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Family 2" "00363192" "" "" "" "2" "" "02404" "{PMID:Rad 2022:35241111}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "F;M" "yes" "Iran" "" "0" "" "" "" "Family 3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00132291" "06877" "00207706" "00621" "00207707" "00621" "00228149" "05400" "00248490" "02328" "00248491" "05631" "00248492" "02328" "00248493" "02328" "00248494" "02328" "00248495" "04224" "00248496" "00531" "00248497" "00531" "00248498" "02474" "00248499" "00000" "00248500" "00531" "00248501" "00000" "00248502" "00531" "00248503" "00531" "00248504" "00000" "00248505" "00531" "00248506" "00531" "00248508" "00531" "00292961" "00198" "00299638" "04224" "00304867" "00198" "00363190" "04224" "00363191" "04224" "00363192" "04224" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00531, 00621, 02328, 02474, 04224, 05400, 05631, 06877 ## Count = 12 "{{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}}" "0000155497" "00621" "00207706" "02414" "Familial, autosomal recessive" "20y" "Congenital sensorineural hearing loss\r\nHigh myopia\r\nHypoplastic vitreous gel\r\nSevere arthropathy in shoulders and hip\r\nSpinal scoliosis" "" "" "" "" "" "" "" "" "Stickler Syndrome" "" "" "0000155498" "00621" "00207707" "02414" "Familial, autosomal recessive" "18y" "Congenital sensorineural hearing loss\r\nHigh myopia\r\nHypoplastic vitreous" "" "" "" "" "" "" "" "" "Stickler Syndrome" "" "" "0000172065" "05400" "00228149" "00006" "Familial, autosomal recessive" "" "congenital bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB-16" "hearing loss" "" "0000187480" "02328" "00248494" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187481" "04224" "00248495" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187482" "00531" "00248496" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187483" "00531" "00248497" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000226948" "04224" "00299638" "03446" "Familial, autosomal recessive" "02y" "" "" "03y" "" "" "" "" "" "" "" "" "" "0000258556" "04224" "00363190" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Stickler syndrome" "" "0000258557" "04224" "00363191" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Stickler syndrome" "" "0000258558" "04224" "00363192" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "Stickler syndrome" "" "0000330554" "06877" "00132291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133127" "00132291" "1" "00088" "00088" "2017-09-30 11:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000208747" "00207706" "1" "02414" "02414" "2018-11-29 00:16:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000208748" "00207707" "1" "02414" "02414" "2018-11-29 00:22:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000229236" "00228149" "1" "00006" "00006" "2019-03-18 09:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000249594" "00248490" "0" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249595" "00248491" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249596" "00248492" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249597" "00248493" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249598" "00248494" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249599" "00248495" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249600" "00248496" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249601" "00248497" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249602" "00248498" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249603" "00248499" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249604" "00248500" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249605" "00248501" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249606" "00248502" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249607" "00248503" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249608" "00248504" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249609" "00248505" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249610" "00248506" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000249612" "00248508" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000294129" "00292961" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300748" "00299638" "1" "03446" "03446" "2020-04-17 19:37:06" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000305996" "00304867" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364418" "00363190" "1" "02404" "02404" "2021-04-26 11:58:56" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364419" "00363191" "1" "02404" "02404" "2021-04-26 12:41:43" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364420" "00363192" "1" "02404" "02404" "2021-04-26 12:46:19" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000133127" "PTPRQ" "0000208747" "COL11A1" "0000208747" "COL11A2" "0000208747" "COL2A1" "0000208747" "COL9A1" "0000208747" "COL9A2" "0000208747" "COL9A3" "0000208748" "COL11A1" "0000208748" "COL11A2" "0000208748" "COL2A1" "0000208748" "COL9A1" "0000208748" "COL9A2" "0000208748" "COL9A3" "0000229236" "STRC" "0000249594" "COL9A3" "0000249595" "COL9A3" "0000249596" "COL9A3" "0000249597" "COL9A3" "0000249598" "COL9A3" "0000249599" "COL9A3" "0000249600" "COL9A3" "0000249601" "COL9A3" "0000249602" "COL9A3" "0000249603" "COL9A3" "0000249604" "COL9A3" "0000249605" "COL9A3" "0000249606" "COL9A3" "0000249607" "COL9A3" "0000249608" "COL9A3" "0000249609" "COL9A3" "0000249610" "COL9A3" "0000249612" "COL9A3" ## 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 = 211 "{{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}}" "0000267064" "0" "10" "20" "61460338" "61460338" "subst" "0.526223" "02325" "COL9A3_000017" "g.61460338C>T" "" "" "" "COL9A3(NM_001853.4):c.1008+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62828986C>T" "" "benign" "" "0000267065" "0" "10" "20" "61463501" "61463501" "subst" "0.324497" "02325" "COL9A3_000019" "g.61463501T>C" "" "" "" "COL9A3(NM_001853.4):c.1288-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62832149T>C" "" "benign" "" "0000267066" "0" "10" "20" "61463522" "61463522" "subst" "0.174803" "02325" "COL9A3_000020" "g.61463522C>A" "" "" "" "COL9A3(NM_001853.4):c.1304C>A (p.A435E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62832170C>A" "" "benign" "" "0000267067" "0" "10" "20" "61467898" "61467898" "subst" "0.920172" "02325" "COL9A3_000024" "g.61467898G>C" "" "" "" "COL9A3(NM_001853.4):c.1603+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836546G>C" "" "benign" "" "0000267068" "0" "10" "20" "61468571" "61468571" "subst" "0.68093" "02325" "COL9A3_000027" "g.61468571T>C" "" "" "" "COL9A3(NM_001853.4):c.1740T>C (p.P580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62837219T>C" "" "benign" "" "0000267069" "0" "10" "20" "61472073" "61472073" "subst" "0.0964662" "02325" "COL9A3_000030" "g.61472073C>A" "" "" "" "COL9A3(NM_001853.4):c.2044C>A (p.R682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62840721C>A" "" "benign" "" "0000267070" "0" "10" "20" "61460124" "61460124" "subst" "0.130079" "02325" "COL9A3_000016" "g.61460124G>A" "" "" "" "COL9A3(NM_001853.4):c.909G>A (p.P303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62828772G>A" "" "benign" "" "0000268523" "0" "10" "20" "61460338" "61460338" "subst" "0.526223" "02329" "COL9A3_000017" "g.61460338C>T" "" "" "" "COL9A3(NM_001853.4):c.1008+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62828986C>T" "" "benign" "" "0000268524" "0" "10" "20" "61463501" "61463501" "subst" "0.324497" "02329" "COL9A3_000019" "g.61463501T>C" "" "" "" "COL9A3(NM_001853.4):c.1288-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62832149T>C" "" "benign" "" "0000268525" "0" "10" "20" "61448969" "61448969" "subst" "0.104053" "02329" "COL9A3_000076" "g.61448969C>T" "" "" "" "COL9A3(NM_001853.4):c.129C>T (p.P43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62817617C>T" "" "benign" "" "0000268526" "0" "10" "20" "61463522" "61463522" "subst" "0.174803" "02329" "COL9A3_000020" "g.61463522C>A" "" "" "" "COL9A3(NM_001853.4):c.1304C>A (p.A435E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62832170C>A" "" "benign" "" "0000268527" "0" "10" "20" "61467701" "61467701" "subst" "0.0286466" "02329" "COL9A3_000022" "g.61467701G>A" "" "" "" "COL9A3(NM_001853.4):c.1548+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836349G>A" "" "benign" "" "0000268528" "0" "10" "20" "61467898" "61467898" "subst" "0.920172" "02329" "COL9A3_000024" "g.61467898G>C" "" "" "" "COL9A3(NM_001853.4):c.1603+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836546G>C" "" "benign" "" "0000268529" "0" "10" "20" "61468571" "61468571" "subst" "0.68093" "02329" "COL9A3_000027" "g.61468571T>C" "" "" "" "COL9A3(NM_001853.4):c.1740T>C (p.P580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62837219T>C" "" "benign" "" "0000268530" "0" "10" "20" "61472073" "61472073" "subst" "0.0964662" "02329" "COL9A3_000030" "g.61472073C>A" "" "" "" "COL9A3(NM_001853.4):c.2044C>A (p.R682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62840721C>A" "" "benign" "" "0000268531" "0" "10" "20" "61451332" "61451332" "subst" "0.0479211" "02329" "COL9A3_000080" "g.61451332C>T" "" "" "" "COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62819980C>T" "" "benign" "" "0000268532" "0" "30" "20" "61453149" "61453149" "subst" "0.00385135" "02329" "COL9A3_000070" "g.61453149T>C" "" "" "" "COL9A3(NM_001853.3):c.410T>C (p.(Leu137Pro)), COL9A3(NM_001853.4):c.410T>C (p.L137P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62821797T>C" "" "likely benign" "" "0000268533" "0" "10" "20" "61448466" "61448466" "subst" "0.105528" "02329" "COL9A3_000071" "g.61448466G>A" "" "" "" "COL9A3(NM_001853.4):c.50G>A (p.G17E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62817114G>A" "" "benign" "" "0000268534" "0" "30" "20" "61448912" "61448912" "subst" "0.000265279" "02329" "COL9A3_000072" "g.61448912G>A" "" "" "" "COL9A3(NM_001853.4):c.79-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62817560G>A" "" "likely benign" "" "0000268535" "0" "10" "20" "61459315" "61459315" "subst" "0.0386902" "02329" "COL9A3_000014" "g.61459315C>T" "" "" "" "COL9A3(NM_001853.4):c.887C>T (p.P296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62827963C>T" "" "benign" "" "0000268536" "0" "10" "20" "61460107" "61460107" "subst" "0.0191103" "02329" "COL9A3_000015" "g.61460107T>C" "" "" "" "COL9A3(NM_001853.4):c.901-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62828755T>C" "" "benign" "" "0000268537" "0" "10" "20" "61460124" "61460124" "subst" "0.130079" "02329" "COL9A3_000016" "g.61460124G>A" "" "" "" "COL9A3(NM_001853.4):c.909G>A (p.P303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62828772G>A" "" "benign" "" "0000268538" "0" "10" "20" "61448933" "61448933" "subst" "0.109801" "02329" "COL9A3_000074" "g.61448933C>A" "" "" "" "COL9A3(NM_001853.4):c.93C>A (p.P31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62817581C>A" "" "benign" "" "0000274311" "0" "30" "20" "61461950" "61461950" "subst" "0" "01943" "COL9A3_000018" "g.61461950C>T" "" "" "" "COL9A3(NM_001853.4):c.1287+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62830598C>T" "" "likely benign" "" "0000304772" "0" "30" "20" "61444837" "61444837" "subst" "0.000104768" "01943" "OGFR_000014" "g.61444837C>T" "" "" "" "OGFR(NM_007346.3):c.1870C>T (p.P624S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813485C>T" "" "likely benign" "" "0000328569" "0" "50" "20" "61443648" "61443648" "subst" "0.0022374" "01804" "OGFR_000002" "g.61443648C>G" "" "" "" "OGFR(NM_007346.2):c.681C>G (p.(His227Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62812296C>G" "" "VUS" "" "0000328571" "0" "50" "20" "61443786" "61443786" "subst" "0" "01804" "OGFR_000004" "g.61443786C>G" "" "" "" "OGFR(NM_007346.2):c.819C>G (p.(Phe273Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62812434C>G" "" "VUS" "" "0000328572" "0" "30" "20" "61444540" "61444599" "del" "0.00953957" "01804" "OGFR_000005" "g.61444540_61444599del" "" "" "" "OGFR(NM_007346.2):c.1573_1632del (p.(Ser525_Pro544del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813188_62813247del" "" "likely benign" "" "0000328573" "0" "50" "20" "61444555" "61444555" "subst" "0.000219628" "01804" "OGFR_000006" "g.61444555G>A" "" "" "" "OGFR(NM_007346.2):c.1588G>A (p.(Ala530Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813203G>A" "" "VUS" "" "0000328574" "0" "50" "20" "61444558" "61444558" "subst" "0.00016694" "01804" "OGFR_000007" "g.61444558G>A" "" "" "" "OGFR(NM_007346.2):c.1591G>A (p.(Gly531Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813206G>A" "" "VUS" "" "0000328575" "0" "30" "20" "61444660" "61444719" "del" "0" "01804" "OGFR_000008" "g.61444660_61444719del" "" "" "" "OGFR(NM_007346.2):c.1693_1752del (p.(Arg565_Pro584del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813308_62813367del" "" "likely benign" "" "0000328576" "0" "50" "20" "61444618" "61444618" "subst" "0.00011414" "01804" "OGFR_000009" "g.61444618G>A" "" "" "" "OGFR(NM_007346.2):c.1651G>A (p.(Gly551Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813266G>A" "" "VUS" "" "0000328577" "0" "50" "20" "61444633" "61444633" "del" "6.48149E-5" "01804" "COL9A3_000039" "g.61444633del" "" "" "" "OGFR(NM_007346.2):c.1666delG (p.(Glu556ArgfsTer158))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813281del" "" "VUS" "" "0000328578" "0" "50" "20" "61444635" "61444645" "del" "7.93273E-5" "01804" "OGFR_000010" "g.61444635_61444645del" "" "" "" "OGFR(NM_007346.2):c.1668_1678del (p.(Ser557AspfsTer33))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813283_62813293del" "" "VUS" "" "0000328579" "0" "50" "20" "61444637" "61444637" "del" "3.80353E-5" "01804" "OGFR_000011" "g.61444637del" "" "" "" "OGFR(NM_007346.2):c.1670del (p.(Ser557ThrfsTer157))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813285del" "" "VUS" "" "0000328580" "0" "50" "20" "61444641" "61444699" "del" "0" "01804" "OGFR_000012" "g.61444641_61444699del" "" "" "" "OGFR(NM_007346.2):c.1672_1730del (p.(Ser559IlefsTer15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813289_62813347del" "" "VUS" "" "0000328581" "0" "50" "20" "61444654" "61444701" "del" "0" "01804" "OGFR_000013" "g.61444654_61444701del" "" "" "" "OGFR(NM_007346.2):c.1683_1730del (p.(Gly563_Pro578del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813302_62813349del" "" "VUS" "" "0000328582" "0" "50" "20" "61444855" "61444914" "del" "0" "01804" "OGFR_000015" "g.61444855_61444914del" "" "" "" "OGFR(NM_007346.2):c.1874_1933del (p.(Ala627_Pro646del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813503_62813562del" "" "VUS" "" "0000328587" "0" "50" "20" "61448942" "61448950" "del" "0" "01804" "COL9A3_000073" "g.61448942_61448950del" "" "" "" "COL9A3(NM_001853.3):c.90_98del (p.(Gly32_Pro34del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62817590_62817598del" "" "VUS" "" "0000328588" "0" "30" "20" "61448950" "61448950" "subst" "0.000814984" "01804" "COL9A3_000075" "g.61448950C>T" "" "" "" "COL9A3(NM_001853.3):c.110C>T (p.(Pro37Leu)), COL9A3(NM_001853.4):c.110C>T (p.P37L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62817598C>T" "" "likely benign" "" "0000328591" "0" "50" "20" "61450635" "61450635" "subst" "0.000306908" "01804" "COL9A3_000078" "g.61450635C>T" "" "" "" "COL9A3(NM_001853.3):c.245C>T (p.(Pro82Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62819283C>T" "" "VUS" "" "0000328592" "0" "30" "20" "61450653" "61450653" "subst" "0.000965899" "01804" "COL9A3_000079" "g.61450653C>T" "" "" "" "COL9A3(NM_001853.3):c.255+8C>T (p.(=)), COL9A3(NM_001853.4):c.255+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62819301C>T" "" "likely benign" "" "0000328594" "0" "30" "20" "61453149" "61453149" "subst" "0.00385135" "01804" "COL9A3_000070" "g.61453149T>C" "" "" "" "COL9A3(NM_001853.3):c.410T>C (p.(Leu137Pro)), COL9A3(NM_001853.4):c.410T>C (p.L137P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62821797T>C" "" "likely benign" "" "0000328596" "0" "30" "20" "61458135" "61458135" "subst" "0.00213881" "01804" "COL9A3_000068" "g.61458135G>A" "" "" "" "COL9A3(NM_001853.3):c.755G>A (p.(Arg252Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62826783G>A" "" "likely benign" "" "0000328597" "0" "50" "20" "61467666" "61467666" "subst" "0.000159025" "01804" "COL9A3_000021" "g.61467666C>T" "" "" "" "COL9A3(NM_001853.3):c.1529C>T (p.(Thr510Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836314C>T" "" "VUS" "" "0000328598" "0" "30" "20" "61467826" "61467826" "subst" "0.000603706" "01804" "COL9A3_000023" "g.61467826C>A" "" "" "" "COL9A3(NM_001853.3):c.1549-4C>A (p.?), COL9A3(NM_001853.4):c.1549-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836474C>A" "" "likely benign" "" "0000328599" "0" "50" "20" "61468557" "61468557" "subst" "0.000361485" "01804" "COL9A3_000025" "g.61468557G>A" "" "" "" "COL9A3(NM_001853.3):c.1726G>A (p.(Ala576Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62837205G>A" "" "VUS" "" "0000328600" "0" "50" "20" "61468558" "61468558" "subst" "4.10786E-6" "01804" "COL9A3_000026" "g.61468558C>T" "" "" "" "COL9A3(NM_001853.3):c.1727C>T (p.(Ala576Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62837206C>T" "" "VUS" "" "0000328601" "0" "30" "20" "61470065" "61470065" "subst" "0.00879452" "01804" "COL9A3_000028" "g.61470065G>A" "" "" "" "COL9A3(NM_001853.3):c.1816G>A (p.(Ala606Thr)), COL9A3(NM_001853.4):c.1816G>A (p.A606T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62838713G>A" "" "likely benign" "" "0000328602" "0" "50" "20" "61471947" "61471947" "subst" "0.000919764" "01804" "COL9A3_000029" "g.61471947G>A" "" "" "" "COL9A3(NM_001853.3):c.1918G>A (p.(Glu640Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62840595G>A" "" "VUS" "" "0000328603" "0" "30" "20" "61477034" "61477034" "subst" "0.00941057" "01804" "DPH3P1_000001" "g.61477034G>A" "" "" "" "DPH3P1(NM_080750.4):c.19G>A (p.(Glu7Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62845682G>A" "" "likely benign" "" "0000328604" "0" "50" "20" "61477100" "61477100" "subst" "1.62554E-5" "01804" "DPH3P1_000002" "g.61477100G>A" "" "" "" "DPH3P1(NM_080750.4):c.85G>A (p.(Gly29Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62845748G>A" "" "VUS" "" "0000338498" "0" "10" "20" "61467898" "61467898" "subst" "0.920172" "02327" "COL9A3_000024" "g.61467898G>C" "" "" "" "COL9A3(NM_001853.4):c.1603+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836546G>C" "" "benign" "" "0000340290" "0" "30" "20" "61467832" "61467832" "subst" "0.000172502" "02327" "COL9A3_000031" "g.61467832G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62836480G>A" "" "likely benign" "" "0000340291" "0" "10" "20" "61472073" "61472073" "subst" "0.0964662" "02327" "COL9A3_000030" "g.61472073C>A" "" "" "" "COL9A3(NM_001853.4):c.2044C>A (p.R682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62840721C>A" "" "benign" "" "0000438698" "3" "90" "20" "61467548" "61467548" "subst" "8.19417E-6" "02414" "COL9A3_000032" "g.61467548C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.62836196C>T" "" "pathogenic" "" "0000438699" "3" "90" "20" "61467548" "61467548" "subst" "8.19417E-6" "02414" "COL9A3_000032" "g.61467548C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.62836196C>T" "" "pathogenic" "" "0000470385" "3" "30" "20" "61462024" "61462024" "subst" "0" "00006" "COL9A3_000033" "g.61462024A>C" "" "{PMID:Mahfood 2019:30758234}" "" "" "" "Germline" "" "rs8119815" "0" "" "" "g.62830672A>C" "" "likely benign" "" "0000570192" "0" "30" "20" "61444103" "61444103" "subst" "4.22679E-5" "01804" "COL9A3_000035" "g.61444103C>A" "" "" "" "OGFR(NM_007346.2):c.1136C>A (p.(Pro379His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62812751C>A" "" "likely benign" "" "0000570193" "0" "30" "20" "61444244" "61444244" "subst" "0.00222764" "01804" "COL9A3_000036" "g.61444244C>T" "" "" "" "OGFR(NM_007346.2):c.1277C>T (p.(Thr426Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62812892C>T" "" "likely benign" "" "0000570195" "0" "30" "20" "61444615" "61444615" "subst" "0.000112135" "01804" "COL9A3_000038" "g.61444615G>A" "" "" "" "OGFR(NM_007346.2):c.1648G>A (p.(Ala550Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62813263G>A" "" "likely benign" "" "0000570198" "0" "30" "20" "61448956" "61448956" "subst" "1.45813E-5" "01804" "COL9A3_000042" "g.61448956C>G" "" "" "" "COL9A3(NM_001853.3):c.116C>G (p.(Pro39Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62817604C>G" "" "likely benign" "" "0000570199" "0" "70" "20" "61449868" "61449868" "del" "0" "02327" "COL9A3_000043" "g.61449868del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62818516del" "" "likely pathogenic" "" "0000570200" "0" "30" "20" "61449904" "61449904" "subst" "0.000549272" "01804" "COL9A3_000044" "g.61449904C>T" "" "" "" "COL9A3(NM_001853.3):c.182C>T (p.(Pro61Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62818552C>T" "" "likely benign" "" "0000570201" "0" "30" "20" "61450599" "61450599" "subst" "0.00562101" "01804" "COL9A3_000045" "g.61450599C>T" "" "" "" "COL9A3(NM_001853.3):c.209C>T (p.(Pro70Leu)), COL9A3(NM_001853.4):c.209C>T (p.P70L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62819247C>T" "" "likely benign" "" "0000570202" "0" "30" "20" "61451305" "61451305" "subst" "0.0141218" "01804" "COL9A3_000046" "g.61451305C>T" "" "" "" "COL9A3(NM_001853.3):c.280C>T (p.(Pro94Ser)), COL9A3(NM_001853.4):c.280C>T (p.P94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62819953C>T" "" "likely benign" "" "0000570203" "0" "10" "20" "61451305" "61451305" "subst" "0.0141218" "02329" "COL9A3_000046" "g.61451305C>T" "" "" "" "COL9A3(NM_001853.3):c.280C>T (p.(Pro94Ser)), COL9A3(NM_001853.4):c.280C>T (p.P94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62819953C>T" "" "benign" "" "0000570204" "0" "30" "20" "61451333" "61451333" "subst" "0.0136418" "01804" "COL9A3_000047" "g.61451333G>A" "" "" "" "COL9A3(NM_001853.3):c.308G>A (p.(Arg103Gln)), COL9A3(NM_001853.4):c.308G>A (p.R103Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62819981G>A" "" "likely benign" "" "0000570205" "0" "10" "20" "61451333" "61451333" "subst" "0.0136418" "02329" "COL9A3_000047" "g.61451333G>A" "" "" "" "COL9A3(NM_001853.3):c.308G>A (p.(Arg103Gln)), COL9A3(NM_001853.4):c.308G>A (p.R103Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62819981G>A" "" "benign" "" "0000570206" "0" "50" "20" "61453127" "61453127" "subst" "0.000845192" "01804" "COL9A3_000048" "g.61453127G>A" "" "" "" "COL9A3(NM_001853.3):c.388G>A (p.(Gly130Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62821775G>A" "" "VUS" "" "0000570207" "0" "30" "20" "61453149" "61453149" "subst" "0.00385135" "01943" "COL9A3_000070" "g.61453149T>C" "" "" "" "COL9A3(NM_001853.3):c.410T>C (p.(Leu137Pro)), COL9A3(NM_001853.4):c.410T>C (p.L137P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62821797T>C" "" "likely benign" "" "0000570208" "0" "30" "20" "61455791" "61455791" "subst" "0.0111287" "01804" "COL9A3_000049" "g.61455791C>T" "" "" "" "COL9A3(NM_001853.3):c.520-6C>T (p.(=)), COL9A3(NM_001853.4):c.520-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62824439C>T" "" "likely benign" "" "0000570209" "0" "10" "20" "61455791" "61455791" "subst" "0.0111287" "02329" "COL9A3_000049" "g.61455791C>T" "" "" "" "COL9A3(NM_001853.3):c.520-6C>T (p.(=)), COL9A3(NM_001853.4):c.520-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62824439C>T" "" "benign" "" "0000570210" "0" "50" "20" "61457211" "61457211" "subst" "6.15877E-5" "02327" "COL9A3_000050" "g.61457211G>A" "" "" "" "COL9A3(NM_001853.4):c.673G>A (p.V225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62825859G>A" "" "VUS" "" "0000570211" "0" "30" "20" "61457552" "61457552" "subst" "0.00597652" "01804" "COL9A3_000051" "g.61457552G>T" "" "" "" "COL9A3(NM_001853.3):c.685-4G>T (p.?), COL9A3(NM_001853.4):c.685-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62826200G>T" "" "likely benign" "" "0000570212" "0" "10" "20" "61457552" "61457552" "subst" "0.00597652" "02329" "COL9A3_000051" "g.61457552G>T" "" "" "" "COL9A3(NM_001853.3):c.685-4G>T (p.?), COL9A3(NM_001853.4):c.685-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62826200G>T" "" "benign" "" "0000570213" "0" "30" "20" "61458143" "61458143" "subst" "0.000118529" "01804" "COL9A3_000052" "g.61458143C>T" "" "" "" "COL9A3(NM_001853.3):c.763C>T (p.(Pro255Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62826791C>T" "" "likely benign" "" "0000570214" "0" "30" "20" "61458171" "61458171" "subst" "0.00040071" "01804" "COL9A3_000053" "g.61458171C>T" "" "" "" "COL9A3(NM_001853.3):c.791C>T (p.(Ala264Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62826819C>T" "" "likely benign" "" "0000570216" "0" "10" "20" "61460340" "61460340" "subst" "0.19648" "02329" "COL9A3_000054" "g.61460340G>C" "" "" "" "COL9A3(NM_001853.4):c.1008+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62828988G>C" "" "benign" "" "0000570217" "0" "30" "20" "61461898" "61461898" "subst" "0.00033134" "02329" "COL9A3_000055" "g.61461898C>A" "" "" "" "COL9A3(NM_001853.4):c.1245C>A (p.G415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62830546C>A" "" "likely benign" "" "0000570218" "0" "30" "20" "61461912" "61461912" "subst" "6.1512E-5" "01804" "COL9A3_000056" "g.61461912A>G" "" "" "" "COL9A3(NM_001853.3):c.1259A>G (p.(Gln420Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62830560A>G" "" "likely benign" "" "0000570219" "0" "10" "20" "61467530" "61467530" "subst" "0.0101916" "02329" "COL9A3_000057" "g.61467530C>T" "" "" "" "COL9A3(NM_001853.4):c.1402-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62836178C>T" "" "benign" "" "0000570220" "0" "30" "20" "61467564" "61467564" "subst" "0.00207" "01804" "COL9A3_000058" "g.61467564C>G" "" "" "" "COL9A3(NM_001853.3):c.1427C>G (p.(Pro476Arg)), COL9A3(NM_001853.4):c.1427C>G (p.P476R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62836212C>G" "" "likely benign" "" "0000570221" "0" "30" "20" "61467586" "61467586" "subst" "0.00235215" "01943" "COL9A3_000059" "g.61467586C>T" "" "" "" "COL9A3(NM_001853.4):c.1449C>T (p.N483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62836234C>T" "" "likely benign" "" "0000570222" "0" "30" "20" "61467842" "61467842" "subst" "0.00255215" "01804" "COL9A3_000060" "g.61467842A>G" "" "" "" "COL9A3(NM_001853.3):c.1561A>G (p.(Ser521Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62836490A>G" "" "likely benign" "" "0000570223" "0" "50" "20" "61468579" "61468579" "subst" "0.000156815" "01943" "COL9A3_000061" "g.61468579G>A" "" "" "" "COL9A3(NM_001853.4):c.1748G>A (p.R583H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62837227G>A" "" "VUS" "" "0000570224" "0" "30" "20" "61470042" "61470042" "subst" "6.64399E-6" "01804" "COL9A3_000062" "g.61470042A>C" "" "" "" "COL9A3(NM_001853.3):c.1793A>C (p.(Gln598Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62838690A>C" "" "likely benign" "" "0000570225" "0" "10" "20" "61470065" "61470065" "subst" "0.00879452" "02329" "COL9A3_000028" "g.61470065G>A" "" "" "" "COL9A3(NM_001853.3):c.1816G>A (p.(Ala606Thr)), COL9A3(NM_001853.4):c.1816G>A (p.A606T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62838713G>A" "" "benign" "" "0000570226" "0" "50" "20" "61470085" "61470085" "subst" "0" "02327" "COL9A3_000063" "g.61470085C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62838733C>G" "" "VUS" "" "0000570227" "0" "10" "20" "61471925" "61471925" "subst" "0.00691455" "02329" "COL9A3_000064" "g.61471925C>T" "" "" "" "COL9A3(NM_001853.4):c.1896C>T (p.D632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62840573C>T" "" "benign" "" "0000570228" "0" "50" "20" "61472005" "61472005" "subst" "2.59736E-5" "01804" "COL9A3_000065" "g.61472005C>T" "" "" "" "COL9A3(NM_001853.3):c.1976C>T (p.(Pro659Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62840653C>T" "" "VUS" "" "0000570229" "0" "50" "20" "61472055" "61472055" "subst" "0" "01943" "COL9A3_000066" "g.61472055G>C" "" "" "" "COL9A3(NM_001853.4):c.2026G>C (p.G676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62840703G>C" "" "VUS" "" "0000570230" "0" "50" "20" "61492458" "61492458" "subst" "0" "01943" "COL9A3_000067" "g.61492458C>T" "" "" "" "TCFL5(NM_001301726.1):c.565G>A (p.D189N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62861106C>T" "" "VUS" "" "0000578402" "1" "95" "20" "61449868" "61449868" "subst" "0" "00000" "COL9A3_000001" "g.61449868A>T" "" "{PMID:Paassilta 1999:10090888}, {OMIM120270:0001}" "" "IVS2-2A>T" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.62818516A>T" "" "pathogenic" "" "0000578403" "1" "95" "20" "61449869" "61449869" "subst" "0" "00000" "COL9A3_000002" "g.61449869G>A" "" "{PMID:Lohiniva 2000:10678658}, {OMIM120270:0002}" "" "IVS2-1G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.62818517G>A" "" "pathogenic" "" "0000578404" "1" "95" "20" "61449869" "61449869" "subst" "0" "00000" "COL9A3_000002" "g.61449869G>A" "" "{PMID:Bönnemann 2000:10655510}, {OMIM120270:0002}" "" "IVS2-1G>A" "normal 2nd chromosome; mapped by linkage" "Unknown" "" "" "0" "" "" "g.62818517G>A" "" "pathogenic" "" "0000578405" "1" "95" "20" "61449910" "61449910" "subst" "0" "00000" "COL9A3_000005" "g.61449910G>A" "" "{PMID:Nakashima 2005:15551337}, {OMIM120270:0004}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.62818558G>A" "" "pathogenic" "" "0000578406" "1" "75" "20" "61451332" "61451332" "subst" "0.0479211" "00000" "COL9A3_000003" "g.61451332C>T" "" "{PMID:Paassilta 2001:11308397}, {OMIM120270:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.62819980C>T" "" "likely pathogenic" "" "0000578407" "0" "55" "20" "61451332" "61451332" "subst" "0.0479211" "00000" "COL9A3_000003" "g.61451332C>T" "" "" "" "" "" "Unknown" "" "rs61734651" "0" "" "" "g.62819980C>T" "" "VUS" "" "0000578408" "0" "55" "20" "61451333" "61451333" "subst" "0.0136418" "00000" "COL9A3_000007" "g.61451333G>A" "6/318 cases" "{PMID:Asamura 2005:15917166}" "" "" "" "Unknown" "" "" "0" "" "" "g.62819981G>A" "" "VUS" "" "0000578409" "0" "15" "20" "61451333" "61451333" "subst" "0.0136418" "00000" "COL9A3_000007" "g.61451333G>A" "4/300 controls" "{PMID:Asamura 2005:15917166}" "" "" "" "Unknown" "" "" "0" "" "" "g.62819981G>A" "" "benign" "" "0000578410" "3" "55" "20" "61455820" "61455828" "del" "0" "00000" "COL9A3_000008" "g.61455820_61455828del" "2/318 cases" "{PMID:Asamura 2005:15917166}" "" "541_549del9" "not in 600 control chromosomes" "Unknown" "" "" "0" "" "" "g.62824468_62824476del" "" "VUS" "" "0000578411" "1" "95" "20" "0" "0" "" "0" "00000" "COL9A3_000006" "g.?" "" "{PMID:Baker 2011:21671392}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000578412" "0" "55" "20" "61463522" "61463522" "subst" "0.174803" "00000" "COL9A3_000009" "g.61463522C>A" "6/318 cases" "{PMID:Asamura 2005:15917166}" "" "" "" "Unknown" "" "" "0" "" "" "g.62832170C>A" "" "VUS" "" "0000578413" "0" "15" "20" "61463522" "61463522" "subst" "0.174803" "00000" "COL9A3_000009" "g.61463522C>A" "4/300 controls" "{PMID:Asamura 2005:15917166}" "" "" "" "Unknown" "" "" "0" "" "" "g.62832170C>A" "" "benign" "" "0000578414" "1" "95" "20" "61467271" "61467271" "subst" "0" "00000" "COL9A3_000004" "g.61467271A>C" "" "{PMID:Noponen-Hietala 2003:14644861}" "" "IVS26-2A>C" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.62835919A>C" "" "pathogenic" "" "0000578415" "0" "55" "20" "61468480" "61468480" "subst" "7.74303E-5" "00000" "COL9A3_000010" "g.61468480C>T" "2/318 cases" "{PMID:Asamura 2005:15917166}" "" "" "not in 600 control chromosomes" "Unknown" "" "" "0" "" "" "g.62837128C>T" "" "VUS" "" "0000578416" "0" "55" "20" "61468571" "61468571" "subst" "0.68093" "00000" "COL9A3_000011" "g.61468571T>C" "79/318 cases" "{PMID:Asamura 2005:15917166}" "" "P580P" "" "Unknown" "" "" "0" "" "" "g.62837219T>C" "" "VUS" "" "0000578417" "0" "15" "20" "61468571" "61468571" "subst" "0.68093" "00000" "COL9A3_000011" "g.61468571T>C" "45/300 controls" "{PMID:Asamura 2005:15917166}" "" "" "" "Unknown" "" "" "0" "" "" "g.62837219T>C" "" "benign" "" "0000578418" "1" "75" "20" "61470100" "61470100" "subst" "6.69541E-5" "00000" "COL9A3_000012" "g.61470100C>A" "2/318 cases" "{PMID:Asamura 2005:15917166}" "" "" "normal 2nd chromosome; not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.62838748C>A" "" "likely pathogenic" "" "0000578419" "1" "75" "20" "61470100" "61470100" "subst" "6.69541E-5" "00000" "COL9A3_000012" "g.61470100C>A" "2/318 cases" "{PMID:Asamura 2005:15917166}" "" "" "normal 2nd chromosome; not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.62838748C>A" "" "likely pathogenic" "" "0000578420" "0" "55" "20" "61472073" "61472073" "subst" "0.0964662" "00000" "COL9A3_000013" "g.61472073C>A" "16/318 cases" "{PMID:Asamura 2005:15917166}" "" "R2044R" "" "Unknown" "" "" "0" "" "" "g.62840721C>A" "" "VUS" "" "0000618264" "0" "30" "20" "61448435" "61448435" "subst" "0.000115592" "01804" "COL9A3_000081" "g.61448435T>A" "" "" "" "COL9A3(NM_001853.3):c.19T>A (p.(Cys7Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62817083T>A" "" "likely benign" "" "0000618265" "0" "10" "20" "61448466" "61448466" "subst" "0.105528" "02327" "COL9A3_000071" "g.61448466G>A" "" "" "" "COL9A3(NM_001853.4):c.50G>A (p.G17E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62817114G>A" "" "benign" "" "0000618266" "0" "10" "20" "61460124" "61460124" "subst" "0.130079" "02327" "COL9A3_000016" "g.61460124G>A" "" "" "" "COL9A3(NM_001853.4):c.909G>A (p.P303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62828772G>A" "" "benign" "" "0000618267" "0" "10" "20" "61460338" "61460338" "subst" "0.526223" "02327" "COL9A3_000017" "g.61460338C>T" "" "" "" "COL9A3(NM_001853.4):c.1008+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62828986C>T" "" "benign" "" "0000618268" "0" "10" "20" "61463501" "61463501" "subst" "0.324497" "02327" "COL9A3_000019" "g.61463501T>C" "" "" "" "COL9A3(NM_001853.4):c.1288-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62832149T>C" "" "benign" "" "0000618269" "0" "10" "20" "61463522" "61463522" "subst" "0.174803" "02327" "COL9A3_000009" "g.61463522C>A" "" "" "" "COL9A3(NM_001853.4):c.1304C>A (p.A435E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62832170C>A" "" "benign" "" "0000618270" "0" "50" "20" "61467282" "61467282" "subst" "8.52785E-5" "01804" "COL9A3_000082" "g.61467282G>A" "" "" "" "COL9A3(NM_001853.3):c.1378G>A (p.(Gly460Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62835930G>A" "" "VUS" "" "0000618271" "0" "10" "20" "61468571" "61468571" "subst" "0.68093" "02327" "COL9A3_000011" "g.61468571T>C" "" "" "" "COL9A3(NM_001853.4):c.1740T>C (p.P580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62837219T>C" "" "benign" "" "0000624187" "0" "10" "20" "61462024" "61462024" "subst" "0" "02329" "COL9A3_000033" "g.61462024A>C" "" "" "" "COL9A3(NM_001853.4):c.1287+84A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62830672A>C" "" "benign" "" "0000650818" "1" "30" "20" "61470065" "61470065" "subst" "0.00879452" "03575" "COL9A3_000028" "g.61470065G>A" "43/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous; {DB:CLININrs142792529}" "Germline" "" "rs142792529" "0" "" "" "g.62838713G>A" "" "likely benign" "" "0000658792" "0" "30" "20" "61467648" "61467648" "subst" "6.52385E-5" "01804" "COL9A3_000083" "g.61467648C>T" "" "" "" "COL9A3(NM_001853.3):c.1511C>T (p.(Pro504Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62836296C>T" "" "likely benign" "" "0000663556" "11" "70" "20" "61468560" "61468560" "subst" "0" "03446" "COL9A3_000085" "g.61468560C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.62837208C>T" "" "pathogenic (recessive)" "" "0000663557" "21" "70" "20" "61451293" "61451293" "subst" "4.0812E-6" "03446" "COL9A3_000084" "g.61451293C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.62819941C>T" "" "pathogenic (recessive)" "" "0000669684" "3" "30" "20" "61470065" "61470065" "subst" "0.00879452" "03575" "COL9A3_000028" "g.61470065G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs142792529}" "Germline" "" "rs142792529" "0" "" "" "g.62838713G>A" "" "likely benign" "" "0000681672" "0" "50" "20" "61452549" "61452549" "subst" "0" "01804" "COL9A3_000086" "g.61452549C>G" "" "" "" "COL9A3(NM_001853.3):c.326C>G (p.(Pro109Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681673" "0" "30" "20" "61458159" "61458159" "subst" "8.17307E-5" "01943" "COL9A3_000087" "g.61458159C>T" "" "" "" "COL9A3(NM_001853.4):c.779C>T (p.A260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681674" "0" "10" "20" "61460338" "61460338" "subst" "0.526223" "01943" "COL9A3_000017" "g.61460338C>T" "" "" "" "COL9A3(NM_001853.4):c.1008+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681675" "0" "10" "20" "61460340" "61460340" "subst" "0.19648" "01943" "COL9A3_000054" "g.61460340G>C" "" "" "" "COL9A3(NM_001853.4):c.1008+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681676" "0" "10" "20" "61463501" "61463501" "subst" "0.324497" "01943" "COL9A3_000019" "g.61463501T>C" "" "" "" "COL9A3(NM_001853.4):c.1288-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727821" "0" "30" "20" "61453455" "61453455" "subst" "2.05384E-5" "01804" "COL9A3_000088" "g.61453455C>T" "" "" "" "COL9A3(NM_001853.3):c.424-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727822" "0" "30" "20" "61455814" "61455814" "subst" "0.000415368" "01943" "COL9A3_000089" "g.61455814G>A" "" "" "" "COL9A3(NM_001853.4):c.537G>A (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727823" "0" "30" "20" "61460158" "61460158" "subst" "1.22338E-5" "02329" "COL9A3_000090" "g.61460158G>A" "" "" "" "COL9A3(NM_001853.4):c.943G>A (p.D315N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727824" "0" "30" "20" "61460820" "61460820" "subst" "4.08137E-6" "01804" "COL9A3_000091" "g.61460820G>A" "" "" "" "COL9A3(NM_001853.3):c.1022G>A (p.(Arg341Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727825" "0" "30" "20" "61467643" "61467643" "subst" "5.30171E-5" "01943" "COL9A3_000092" "g.61467643C>T" "" "" "" "COL9A3(NM_001853.4):c.1506C>T (p.G502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727826" "0" "30" "20" "61467844" "61467844" "subst" "0.000313154" "01943" "COL9A3_000093" "g.61467844C>T" "" "" "" "COL9A3(NM_001853.4):c.1563C>T (p.S521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727827" "0" "30" "20" "61468517" "61468517" "subst" "0.000135054" "01943" "COL9A3_000094" "g.61468517T>C" "" "" "" "COL9A3(NM_001853.4):c.1686T>C (p.P562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765198" "3" "90" "20" "61448947" "61448956" "del" "0" "02404" "COL9A3_000095" "g.61448947_61448956del" "" "{PMID:Rad 2022:35241111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62817595_62817604del" "" "pathogenic (recessive)" "ACMG" "0000765199" "3" "90" "20" "61461754" "61461754" "subst" "0" "02404" "COL9A3_000096" "g.61461754C>T" "" "{PMID:Rad 2022:35241111}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62830402C>T" "" "pathogenic (recessive)" "ACMG" "0000765200" "3" "90" "20" "61452868" "61452868" "del" "0" "02404" "COL9A3_000097" "g.61452868del" "" "{PMID:Rad 2022:35241111}" "" "355delC" "" "Germline" "yes" "" "0" "" "" "g.62821516del" "" "pathogenic (recessive)" "ACMG" "0000809320" "0" "30" "20" "61450599" "61450599" "subst" "0.00562101" "01943" "COL9A3_000045" "g.61450599C>T" "" "" "" "COL9A3(NM_001853.3):c.209C>T (p.(Pro70Leu)), COL9A3(NM_001853.4):c.209C>T (p.P70L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809321" "0" "50" "20" "61450608" "61450608" "subst" "2.0474E-5" "02327" "COL9A3_000077" "g.61450608C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809322" "0" "50" "20" "61452566" "61452566" "subst" "4.57369E-5" "01943" "COL9A3_000098" "g.61452566G>C" "" "" "" "COL9A3(NM_001853.4):c.343G>C (p.G115R, p.(Gly115Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809323" "0" "30" "20" "61459319" "61459319" "subst" "0.00202393" "01943" "COL9A3_000099" "g.61459319C>T" "" "" "" "COL9A3(NM_001853.4):c.891C>T (p.S297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809324" "0" "50" "20" "61461143" "61461143" "subst" "0" "01943" "COL9A3_000100" "g.61461143G>C" "" "" "" "COL9A3(NM_001853.4):c.1133G>C (p.R378P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809325" "0" "50" "20" "61467587" "61467587" "subst" "5.29851E-5" "01943" "COL9A3_000101" "g.61467587G>A" "" "" "" "COL9A3(NM_001853.4):c.1450G>A (p.G484S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809326" "0" "30" "20" "61467598" "61467598" "subst" "0.000378989" "01943" "COL9A3_000102" "g.61467598T>A" "" "" "" "COL9A3(NM_001853.4):c.1461T>A (p.G487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809327" "0" "30" "20" "61467826" "61467826" "subst" "0.000603706" "01943" "COL9A3_000023" "g.61467826C>A" "" "" "" "COL9A3(NM_001853.3):c.1549-4C>A (p.?), COL9A3(NM_001853.4):c.1549-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809328" "0" "30" "20" "61468499" "61468499" "subst" "0.00014294" "01943" "COL9A3_000103" "g.61468499C>T" "" "" "" "COL9A3(NM_001853.4):c.1668C>T (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855921" "0" "30" "20" "61448950" "61448950" "subst" "0.000814984" "01943" "COL9A3_000075" "g.61448950C>T" "" "" "" "COL9A3(NM_001853.3):c.110C>T (p.(Pro37Leu)), COL9A3(NM_001853.4):c.110C>T (p.P37L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855922" "0" "30" "20" "61450653" "61450653" "subst" "0.000965899" "01943" "COL9A3_000079" "g.61450653C>T" "" "" "" "COL9A3(NM_001853.3):c.255+8C>T (p.(=)), COL9A3(NM_001853.4):c.255+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855923" "0" "50" "20" "61453109" "61453109" "subst" "0" "01943" "COL9A3_000106" "g.61453109G>A" "" "" "" "COL9A3(NM_001853.4):c.370G>A (p.G124R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855924" "0" "30" "20" "61453946" "61453946" "subst" "6.9234E-5" "01943" "COL9A3_000107" "g.61453946C>T" "" "" "" "COL9A3(NM_001853.4):c.481C>T (p.H161Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855925" "0" "10" "20" "61455823" "61455823" "subst" "0.00582258" "02329" "COL9A3_000108" "g.61455823C>T" "" "" "" "COL9A3(NM_001853.4):c.546C>T (p.P182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855926" "0" "50" "20" "61457211" "61457211" "subst" "6.15877E-5" "01943" "COL9A3_000050" "g.61457211G>A" "" "" "" "COL9A3(NM_001853.4):c.673G>A (p.V225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855927" "0" "30" "20" "61458133" "61458133" "subst" "3.6817E-5" "02327" "COL9A3_000109" "g.61458133C>G" "" "" "" "COL9A3(NM_001853.3):c.753C>G (p.(Phe251Leu)), COL9A3(NM_001853.4):c.753C>G (p.F251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855928" "0" "50" "20" "61458172" "61458172" "subst" "4.90753E-5" "01804" "COL9A3_000110" "g.61458172G>A" "" "" "" "COL9A3(NM_001853.3):c.792G>A (p.(Ala264=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855929" "0" "50" "20" "61468512" "61468512" "subst" "1.22858E-5" "02327" "COL9A3_000112" "g.61468512C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866569" "0" "10" "20" "61448466" "61448466" "subst" "0.105528" "01943" "COL9A3_000071" "g.61448466G>A" "" "" "" "COL9A3(NM_001853.4):c.50G>A (p.G17E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866570" "0" "50" "20" "61448937" "61448937" "subst" "2.21572E-5" "01804" "COL9A3_000104" "g.61448937C>T" "" "" "" "COL9A3(NM_001853.3):c.97C>T (p.(Pro33Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866571" "0" "10" "20" "61451332" "61451332" "subst" "0.0479211" "01943" "COL9A3_000003" "g.61451332C>T" "" "" "" "COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866572" "0" "50" "20" "61452554" "61452554" "subst" "0.000191104" "01804" "COL9A3_000105" "g.61452554C>T" "" "" "" "COL9A3(NM_001853.3):c.331C>T (p.(Pro111Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866573" "0" "50" "20" "61458133" "61458133" "subst" "3.6817E-5" "01943" "COL9A3_000109" "g.61458133C>G" "" "" "" "COL9A3(NM_001853.3):c.753C>G (p.(Phe251Leu)), COL9A3(NM_001853.4):c.753C>G (p.F251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866574" "0" "10" "20" "61460124" "61460124" "subst" "0.130079" "01943" "COL9A3_000016" "g.61460124G>A" "" "" "" "COL9A3(NM_001853.4):c.909G>A (p.P303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866575" "0" "10" "20" "61463522" "61463522" "subst" "0.174803" "01943" "COL9A3_000009" "g.61463522C>A" "" "" "" "COL9A3(NM_001853.4):c.1304C>A (p.A435E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866576" "0" "30" "20" "61464375" "61464375" "subst" "0.00255548" "01804" "COL9A3_000111" "g.61464375A>G" "" "" "" "COL9A3(NM_001853.3):c.1327A>G (p.(Ile443Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866577" "0" "50" "20" "61467564" "61467564" "subst" "0.00207" "01943" "COL9A3_000058" "g.61467564C>G" "" "" "" "COL9A3(NM_001853.3):c.1427C>G (p.(Pro476Arg)), COL9A3(NM_001853.4):c.1427C>G (p.P476R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866578" "0" "10" "20" "61467898" "61467898" "subst" "0.920172" "01943" "COL9A3_000024" "g.61467898G>C" "" "" "" "COL9A3(NM_001853.4):c.1603+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866579" "0" "50" "20" "61468522" "61468522" "subst" "0" "01943" "COL9A3_000113" "g.61468522C>T" "" "" "" "COL9A3(NM_001853.4):c.1691C>T (p.P564L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866580" "0" "10" "20" "61468571" "61468571" "subst" "0.68093" "01943" "COL9A3_000011" "g.61468571T>C" "" "" "" "COL9A3(NM_001853.4):c.1740T>C (p.P580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000874007" "0" "50" "20" "61457610" "61457610" "subst" "0" "03779" "COL9A3_000114" "g.61457610G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000895412" "0" "50" "20" "61448926" "61448926" "subst" "2.8806E-5" "02327" "COL9A3_000115" "g.61448926G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895413" "0" "30" "20" "61457190" "61457190" "subst" "2.53219E-5" "01804" "COL9A3_000116" "g.61457190C>T" "" "" "" "COL9A3(NM_001853.3):c.652C>T (p.(Pro218Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895414" "0" "10" "20" "61458191" "61458191" "subst" "0.00283974" "02329" "COL9A3_000117" "g.61458191G>A" "" "" "" "COL9A3(NM_001853.4):c.792+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895415" "0" "50" "20" "61460298" "61460298" "subst" "0" "02327" "COL9A3_000118" "g.61460298T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895416" "0" "50" "20" "61468587" "61468587" "subst" "0.000313873" "01804" "COL9A3_000119" "g.61468587A>C" "" "" "" "COL9A3(NM_001853.3):c.1756A>C (p.(Thr586Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915424" "0" "50" "20" "61455820" "61455828" "del" "0" "02325" "COL9A3_000008" "g.61455820_61455828del" "" "" "" "COL9A3(NM_001853.4):c.543_551del (p.(Pro185_Gly187del)), COL9A3(NM_001853.4):c.543_551delTCCCCCAGG (p.P185_G187del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915425" "0" "50" "20" "61460149" "61460149" "subst" "0" "02327" "COL9A3_000120" "g.61460149C>T" "" "" "" "COL9A3(NM_001853.3):c.934C>T (p.(Pro312Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927046" "0" "30" "20" "61444600" "61444600" "subst" "0.00357939" "01804" "COL9A3_000121" "g.61444600C>A" "" "" "" "OGFR(NM_007346.2):c.1633C>A (p.(Arg545Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000943938" "0" "50" "20" "61467564" "61467564" "subst" "0.00207" "00006" "COL9A3_000058" "g.61467564C>G" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs142066316" "0" "" "" "g.62836212C>G" "" "VUS" "" "0000970219" "0" "70" "20" "61448944" "61448944" "subst" "0" "02327" "COL9A3_000122" "g.61448944G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000970220" "0" "30" "20" "61456488" "61456488" "subst" "0" "02329" "COL9A3_000123" "g.61456488G>A" "" "" "" "COL9A3(NM_001853.4):c.630+115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970221" "0" "30" "20" "61459339" "61459339" "subst" "0.000350603" "02329" "COL9A3_000124" "g.61459339G>A" "" "" "" "COL9A3(NM_001853.4):c.900+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970222" "0" "30" "20" "61461010" "61461010" "subst" "0.000136079" "02329" "COL9A3_000125" "g.61461010C>T" "" "" "" "COL9A3(NM_001853.4):c.1084C>T (p.P362S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983906" "0" "50" "20" "61450584" "61450584" "subst" "2.4557E-5" "01804" "COL9A3_000126" "g.61450584G>A" "" "" "" "COL9A3(NM_001853.4):c.194G>A (p.(Gly65Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983907" "0" "30" "20" "61451332" "61451332" "subst" "0.0479211" "01804" "COL9A3_000003" "g.61451332C>T" "" "" "" "COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983908" "0" "30" "20" "61452556" "61452556" "subst" "0.000428328" "01804" "COL9A3_000127" "g.61452556G>A" "" "" "" "COL9A3(NM_001853.4):c.333G>A (p.(Pro111=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983909" "0" "30" "20" "61463502" "61463502" "subst" "4.06931E-6" "02329" "COL9A3_000128" "g.61463502C>T" "" "" "" "COL9A3(NM_001853.4):c.1288-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983910" "0" "50" "20" "61467851" "61467851" "subst" "9.91309E-5" "01804" "COL9A3_000129" "g.61467851C>T" "" "" "" "COL9A3(NM_001853.4):c.1570C>T (p.(Arg524Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987787" "0" "30" "20" "61467282" "61467282" "subst" "8.52785E-5" "03779" "COL9A3_000082" "g.61467282G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs148610956" "0" "" "" "" "" "likely benign" "" "0001005544" "0" "50" "20" "61450632" "61450632" "subst" "0" "01804" "COL9A3_000130" "g.61450632T>A" "" "" "" "COL9A3(NM_001853.3):c.242T>A (p.(Leu81Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005545" "0" "50" "20" "61458133" "61458133" "subst" "3.6817E-5" "01804" "COL9A3_000109" "g.61458133C>G" "" "" "" "COL9A3(NM_001853.3):c.753C>G (p.(Phe251Leu)), COL9A3(NM_001853.4):c.753C>G (p.F251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005546" "0" "50" "20" "61458627" "61458627" "subst" "8.14074E-6" "01804" "COL9A3_000131" "g.61458627G>A" "" "" "" "COL9A3(NM_001853.3):c.827G>A (p.(Arg276His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005547" "0" "50" "20" "61460149" "61460149" "subst" "0" "01804" "COL9A3_000120" "g.61460149C>T" "" "" "" "COL9A3(NM_001853.3):c.934C>T (p.(Pro312Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005548" "0" "10" "20" "61467586" "61467586" "subst" "0.00235215" "02329" "COL9A3_000059" "g.61467586C>T" "" "" "" "COL9A3(NM_001853.4):c.1449C>T (p.N483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005549" "0" "50" "20" "61468456" "61468456" "subst" "4.07661E-5" "01804" "COL9A3_000132" "g.61468456C>T" "" "" "" "COL9A3(NM_001853.3):c.1625C>T (p.(Ala542Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005550" "0" "50" "20" "61468485" "61468485" "subst" "0" "01804" "COL9A3_000133" "g.61468485T>C" "" "" "" "COL9A3(NM_001853.3):c.1654T>C (p.(Ser552Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005551" "0" "30" "20" "61470066" "61470066" "subst" "0" "01804" "COL9A3_000134" "g.61470066C>G" "" "" "" "COL9A3(NM_001853.3):c.1817C>G (p.(Ala606Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005552" "0" "30" "20" "61471905" "61471905" "subst" "0.000344116" "01804" "COL9A3_000135" "g.61471905G>A" "" "" "" "COL9A3(NM_001853.3):c.1876G>A (p.(Val626Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027336" "0" "10" "20" "61450663" "61450665" "dup" "0" "02329" "COL9A3_000136" "g.61450663_61450665dup" "" "" "" "COL9A3(NM_001853.4):c.255+16_255+18dupCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043501" "0" "50" "20" "61452566" "61452566" "subst" "4.57369E-5" "01804" "COL9A3_000098" "g.61452566G>C" "" "" "" "COL9A3(NM_001853.4):c.343G>C (p.G115R, p.(Gly115Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043502" "0" "50" "20" "61453161" "61453161" "subst" "0.000111145" "01804" "COL9A3_000137" "g.61453161C>G" "" "" "" "COL9A3(NM_001853.4):c.422C>G (p.(Pro141Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043503" "0" "50" "20" "61455820" "61455828" "del" "0" "01804" "COL9A3_000008" "g.61455820_61455828del" "" "" "" "COL9A3(NM_001853.4):c.543_551del (p.(Pro185_Gly187del)), COL9A3(NM_001853.4):c.543_551delTCCCCCAGG (p.P185_G187del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043504" "0" "30" "20" "61456378" "61456378" "subst" "0" "01804" "COL9A3_000138" "g.61456378A>C" "" "" "" "COL9A3(NM_001853.4):c.630+5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043505" "0" "50" "20" "61459311" "61459311" "subst" "1.62858E-5" "01804" "COL9A3_000139" "g.61459311G>A" "" "" "" "COL9A3(NM_001853.4):c.883G>A (p.(Gly295Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043506" "0" "30" "20" "61461145" "61461145" "subst" "0.000525467" "01804" "COL9A3_000140" "g.61461145G>A" "" "" "" "COL9A3(NM_001853.4):c.1135G>A (p.(Gly379Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043507" "0" "50" "20" "61468452" "61468452" "subst" "0.000106019" "01804" "COL9A3_000141" "g.61468452G>A" "" "" "" "COL9A3(NM_001853.4):c.1621G>A (p.(Ala541Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043508" "0" "50" "20" "61468539" "61468571" "del" "0" "01804" "COL9A3_000142" "g.61468539_61468571del" "" "" "" "COL9A3(NM_001853.4):c.1708_1740del (p.(Ser570_Pro580del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043509" "0" "50" "20" "61470100" "61470100" "subst" "6.69541E-5" "01804" "COL9A3_000012" "g.61470100C>A" "" "" "" "COL9A3(NM_001853.4):c.1851C>A (p.(Asp617Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043510" "0" "50" "20" "61470102" "61470102" "del" "0" "01804" "COL9A3_000143" "g.61470102del" "" "" "" "COL9A3(NM_001853.4):c.1853del (p.(Gln618Argfs*55))" "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 COL9A3 ## Count = 211 "{{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}}" "0000267064" "00005483" "10" "1008" "10" "1008" "10" "c.1008+10C>T" "r.(=)" "p.(=)" "" "0000267065" "00005483" "10" "1288" "-5" "1288" "-5" "c.1288-5T>C" "r.spl?" "p.?" "" "0000267066" "00005483" "10" "1304" "0" "1304" "0" "c.1304C>A" "r.(?)" "p.(Ala435Glu)" "" "0000267067" "00005483" "10" "1603" "14" "1603" "14" "c.1603+14G>C" "r.(=)" "p.(=)" "" "0000267068" "00005483" "10" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(Pro580=)" "" "0000267069" "00005483" "10" "2044" "0" "2044" "0" "c.2044C>A" "r.(?)" "p.(Arg682=)" "" "0000267070" "00005483" "10" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Pro303=)" "" "0000268523" "00005483" "10" "1008" "10" "1008" "10" "c.1008+10C>T" "r.(=)" "p.(=)" "" "0000268524" "00005483" "10" "1288" "-5" "1288" "-5" "c.1288-5T>C" "r.spl?" "p.?" "" "0000268525" "00005483" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Pro43=)" "" "0000268526" "00005483" "10" "1304" "0" "1304" "0" "c.1304C>A" "r.(?)" "p.(Ala435Glu)" "" "0000268527" "00005483" "10" "1548" "16" "1548" "16" "c.1548+16G>A" "r.(=)" "p.(=)" "" "0000268528" "00005483" "10" "1603" "14" "1603" "14" "c.1603+14G>C" "r.(=)" "p.(=)" "" "0000268529" "00005483" "10" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(Pro580=)" "" "0000268530" "00005483" "10" "2044" "0" "2044" "0" "c.2044C>A" "r.(?)" "p.(Arg682=)" "" "0000268531" "00005483" "10" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000268532" "00005483" "30" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Leu137Pro)" "" "0000268533" "00005483" "10" "50" "0" "50" "0" "c.50G>A" "r.(?)" "p.(Gly17Glu)" "" "0000268534" "00005483" "30" "79" "-7" "79" "-7" "c.79-7G>A" "r.(=)" "p.(=)" "" "0000268535" "00005483" "10" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Pro296Leu)" "" "0000268536" "00005483" "10" "901" "-9" "901" "-9" "c.901-9T>C" "r.(=)" "p.(=)" "" "0000268537" "00005483" "10" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Pro303=)" "" "0000268538" "00005483" "10" "93" "0" "93" "0" "c.93C>A" "r.(?)" "p.(Pro31=)" "" "0000274311" "00005483" "30" "1287" "10" "1287" "10" "c.1287+10C>T" "r.(=)" "p.(=)" "" "0000304772" "00005483" "30" "-3580" "0" "-3580" "0" "c.-3580C>T" "r.(?)" "p.(=)" "" "0000328569" "00005483" "50" "-4769" "0" "-4769" "0" "c.-4769C>G" "r.(?)" "p.(=)" "" "0000328571" "00005483" "50" "-4631" "0" "-4631" "0" "c.-4631C>G" "r.(?)" "p.(=)" "" "0000328572" "00005483" "30" "-3877" "0" "-3818" "0" "c.-3877_-3818del" "r.(?)" "p.(=)" "" "0000328573" "00005483" "50" "-3862" "0" "-3862" "0" "c.-3862G>A" "r.(?)" "p.(=)" "" "0000328574" "00005483" "50" "-3859" "0" "-3859" "0" "c.-3859G>A" "r.(?)" "p.(=)" "" "0000328575" "00005483" "30" "-3757" "0" "-3698" "0" "c.-3757_-3698del" "r.(?)" "p.(=)" "" "0000328576" "00005483" "50" "-3799" "0" "-3799" "0" "c.-3799G>A" "r.(?)" "p.(=)" "" "0000328577" "00005483" "50" "-3784" "0" "-3784" "0" "c.-3784del" "r.(?)" "p.(=)" "" "0000328578" "00005483" "50" "-3782" "0" "-3772" "0" "c.-3782_-3772del" "r.(?)" "p.(=)" "" "0000328579" "00005483" "50" "-3780" "0" "-3780" "0" "c.-3780del" "r.(?)" "p.(=)" "" "0000328580" "00005483" "50" "-3776" "0" "-3718" "0" "c.-3776_-3718del" "r.(?)" "p.(=)" "" "0000328581" "00005483" "50" "-3763" "0" "-3716" "0" "c.-3763_-3716del" "r.(?)" "p.(=)" "" "0000328582" "00005483" "50" "-3562" "0" "-3503" "0" "c.-3562_-3503del" "r.(?)" "p.(=)" "" "0000328587" "00005483" "50" "102" "0" "110" "0" "c.102_110del" "r.(?)" "p.(Pro39_Gly41del)" "" "0000328588" "00005483" "30" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Pro37Leu)" "" "0000328591" "00005483" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000328592" "00005483" "30" "255" "8" "255" "8" "c.255+8C>T" "r.(=)" "p.(=)" "" "0000328594" "00005483" "30" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Leu137Pro)" "" "0000328596" "00005483" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000328597" "00005483" "50" "1529" "0" "1529" "0" "c.1529C>T" "r.(?)" "p.(Thr510Met)" "" "0000328598" "00005483" "30" "1549" "-4" "1549" "-4" "c.1549-4C>A" "r.spl?" "p.?" "" "0000328599" "00005483" "50" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Ala576Thr)" "" "0000328600" "00005483" "50" "1727" "0" "1727" "0" "c.1727C>T" "r.(?)" "p.(Ala576Val)" "" "0000328601" "00005483" "30" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "" "0000328602" "00005483" "50" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Glu640Lys)" "" "0000328603" "00005483" "30" "7005" "0" "7005" "0" "c.*4950G>A" "r.(=)" "p.(=)" "" "0000328604" "00005483" "50" "7071" "0" "7071" "0" "c.*5016G>A" "r.(=)" "p.(=)" "" "0000338498" "00005483" "10" "1603" "14" "1603" "14" "c.1603+14G>C" "r.(=)" "p.(=)" "" "0000340290" "00005483" "30" "1551" "0" "1551" "0" "c.1551G>A" "r.(?)" "p.(Gly517=)" "" "0000340291" "00005483" "10" "2044" "0" "2044" "0" "c.2044C>A" "r.(?)" "p.(Arg682=)" "" "0000438698" "00005483" "90" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471*)" "" "0000438699" "00005483" "90" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471*)" "" "0000470385" "00005483" "30" "1287" "84" "1287" "84" "c.1287+84A>C" "r.(=)" "p.(=)" "" "0000570192" "00005483" "30" "-4314" "0" "-4314" "0" "c.-4314C>A" "r.(?)" "p.(=)" "" "0000570193" "00005483" "30" "-4173" "0" "-4173" "0" "c.-4173C>T" "r.(?)" "p.(=)" "" "0000570195" "00005483" "30" "-3802" "0" "-3802" "0" "c.-3802G>A" "r.(?)" "p.(=)" "" "0000570198" "00005483" "30" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Pro39Arg)" "" "0000570199" "00005483" "70" "148" "-2" "148" "-2" "c.148-2del" "r.spl?" "p.?" "" "0000570200" "00005483" "30" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "0000570201" "00005483" "30" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Pro70Leu)" "" "0000570202" "00005483" "30" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Pro94Ser)" "" "0000570203" "00005483" "10" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Pro94Ser)" "" "0000570204" "00005483" "30" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "0000570205" "00005483" "10" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "0000570206" "00005483" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Gly130Ser)" "" "0000570207" "00005483" "30" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Leu137Pro)" "" "0000570208" "00005483" "30" "520" "-6" "520" "-6" "c.520-6C>T" "r.(=)" "p.(=)" "" "0000570209" "00005483" "10" "520" "-6" "520" "-6" "c.520-6C>T" "r.(=)" "p.(=)" "" "0000570210" "00005483" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "" "0000570211" "00005483" "30" "685" "-4" "685" "-4" "c.685-4G>T" "r.spl?" "p.?" "" "0000570212" "00005483" "10" "685" "-4" "685" "-4" "c.685-4G>T" "r.spl?" "p.?" "" "0000570213" "00005483" "30" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Pro255Ser)" "" "0000570214" "00005483" "30" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ala264Val)" "" "0000570216" "00005483" "10" "1008" "12" "1008" "12" "c.1008+12G>C" "r.(=)" "p.(=)" "" "0000570217" "00005483" "30" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Gly415=)" "" "0000570218" "00005483" "30" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Gln420Arg)" "" "0000570219" "00005483" "10" "1402" "-9" "1402" "-9" "c.1402-9C>T" "r.(=)" "p.(=)" "" "0000570220" "00005483" "30" "1427" "0" "1427" "0" "c.1427C>G" "r.(?)" "p.(Pro476Arg)" "" "0000570221" "00005483" "30" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Asn483=)" "" "0000570222" "00005483" "30" "1561" "0" "1561" "0" "c.1561A>G" "r.(?)" "p.(Ser521Gly)" "" "0000570223" "00005483" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583His)" "" "0000570224" "00005483" "30" "1793" "0" "1793" "0" "c.1793A>C" "r.(?)" "p.(Gln598Pro)" "" "0000570225" "00005483" "10" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "" "0000570226" "00005483" "50" "1836" "0" "1836" "0" "c.1836C>G" "r.(?)" "p.(Asp612Glu)" "" "0000570227" "00005483" "10" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Asp632=)" "" "0000570228" "00005483" "50" "1976" "0" "1976" "0" "c.1976C>T" "r.(?)" "p.(Pro659Leu)" "" "0000570229" "00005483" "50" "2026" "0" "2026" "0" "c.2026G>C" "r.(?)" "p.(Gly676Arg)" "" "0000570230" "00005483" "50" "22429" "0" "22429" "0" "c.*20374C>T" "r.(=)" "p.(=)" "" "0000578402" "00005483" "95" "148" "-2" "148" "-2" "c.148-2A>T" "r.148_183del" "p.Glu51_Gly62del" "2i" "0000578403" "00005483" "95" "148" "-1" "148" "-1" "c.148-1G>A" "r.spl?" "p.?" "2i" "0000578404" "00005483" "95" "148" "-1" "148" "-1" "c.148-1G>A" "r.148_183del" "p.Glu51_Gly62del" "2i" "0000578405" "00005483" "95" "183" "5" "183" "5" "c.183+5G>A" "r.[79_183del, 148_183del]" "p.[Arg27_Pro61del, Glu51_Gly62del]" "3i" "0000578406" "00005483" "75" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "5" "0000578407" "00005483" "55" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "5" "0000578408" "00005483" "55" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "5" "0000578409" "00005483" "15" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "5" "0000578410" "00005483" "55" "543" "0" "551" "0" "c.543_551del" "r.(?)" "p.(Pro181_Gly184del)" "11" "0000578411" "00005483" "95" "843" "0" "846" "4" "c.843_846+4del" "r.[79_183del, 148_183del]" "p.[Arg27_Pro61del, Glu51_Gly62del]" "16i" "0000578412" "00005483" "55" "1304" "0" "1304" "0" "c.1304C>A" "r.(?)" "p.(Ala435Glu)" "25" "0000578413" "00005483" "15" "1304" "0" "1304" "0" "c.1304C>A" "r.(?)" "p.(Ala435Glu)" "25" "0000578414" "00005483" "95" "1369" "-2" "1369" "-2" "c.1369-2A>C" "r.1368_1369ins1368+1_1369-1{1369-2a>c}" "p.fs*" "26i" "0000578415" "00005483" "55" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Pro550Leu)" "30" "0000578416" "00005483" "55" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(=)" "30" "0000578417" "00005483" "15" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(=)" "30" "0000578418" "00005483" "75" "1851" "0" "1851" "0" "c.1851C>A" "r.(?)" "p.Asp617Glu" "31" "0000578419" "00005483" "75" "1851" "0" "1851" "0" "c.1851C>A" "r.(?)" "p.Asp617Glu" "31" "0000578420" "00005483" "55" "2044" "0" "2044" "0" "c.2044C>A" "r.(?)" "p.(=)" "32" "0000618264" "00005483" "30" "19" "0" "19" "0" "c.19T>A" "r.(?)" "p.(Cys7Ser)" "" "0000618265" "00005483" "10" "50" "0" "50" "0" "c.50G>A" "r.(?)" "p.(Gly17Glu)" "" "0000618266" "00005483" "10" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Pro303=)" "" "0000618267" "00005483" "10" "1008" "10" "1008" "10" "c.1008+10C>T" "r.(=)" "p.(=)" "" "0000618268" "00005483" "10" "1288" "-5" "1288" "-5" "c.1288-5T>C" "r.spl?" "p.?" "" "0000618269" "00005483" "10" "1304" "0" "1304" "0" "c.1304C>A" "r.(?)" "p.(Ala435Glu)" "" "0000618270" "00005483" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "" "0000618271" "00005483" "10" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(Pro580=)" "" "0000624187" "00005483" "10" "1287" "84" "1287" "84" "c.1287+84A>C" "r.(=)" "p.(=)" "" "0000650818" "00005483" "30" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "" "0000658792" "00005483" "30" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Pro504Leu)" "" "0000663556" "00005483" "70" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "" "0000663557" "00005483" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "" "0000669684" "00005483" "30" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "" "0000681672" "00005483" "50" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Pro109Arg)" "" "0000681673" "00005483" "30" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Ala260Val)" "" "0000681674" "00005483" "10" "1008" "10" "1008" "10" "c.1008+10C>T" "r.(=)" "p.(=)" "" "0000681675" "00005483" "10" "1008" "12" "1008" "12" "c.1008+12G>C" "r.(=)" "p.(=)" "" "0000681676" "00005483" "10" "1288" "-5" "1288" "-5" "c.1288-5T>C" "r.spl?" "p.?" "" "0000727821" "00005483" "30" "424" "-8" "424" "-8" "c.424-8C>T" "r.(=)" "p.(=)" "" "0000727822" "00005483" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Pro179=)" "" "0000727823" "00005483" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0000727824" "00005483" "30" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341Gln)" "" "0000727825" "00005483" "30" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Gly502=)" "" "0000727826" "00005483" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Ser521=)" "" "0000727827" "00005483" "30" "1686" "0" "1686" "0" "c.1686T>C" "r.(?)" "p.(Pro562=)" "" "0000765198" "00005483" "90" "107" "0" "116" "0" "c.107_116del" "r.(?)" "p.(Pro36Argfs*49)" "2" "0000765199" "00005483" "90" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402*)" "23" "0000765200" "00005483" "90" "355" "0" "355" "0" "c.355del" "r.(?)" "p.(Leu119Serfs*10)" "7" "0000809320" "00005483" "30" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Pro70Leu)" "" "0000809321" "00005483" "50" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Pro73Leu)" "" "0000809322" "00005483" "50" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Gly115Arg)" "" "0000809323" "00005483" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Ser297=)" "" "0000809324" "00005483" "50" "1133" "0" "1133" "0" "c.1133G>C" "r.(?)" "p.(Arg378Pro)" "" "0000809325" "00005483" "50" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Gly484Ser)" "" "0000809326" "00005483" "30" "1461" "0" "1461" "0" "c.1461T>A" "r.(?)" "p.(Gly487=)" "" "0000809327" "00005483" "30" "1549" "-4" "1549" "-4" "c.1549-4C>A" "r.spl?" "p.?" "" "0000809328" "00005483" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Pro556=)" "" "0000855921" "00005483" "30" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Pro37Leu)" "" "0000855922" "00005483" "30" "255" "8" "255" "8" "c.255+8C>T" "r.(=)" "p.(=)" "" "0000855923" "00005483" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Arg)" "" "0000855924" "00005483" "30" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(His161Tyr)" "" "0000855925" "00005483" "10" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Pro182=)" "" "0000855926" "00005483" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "" "0000855927" "00005483" "30" "753" "0" "753" "0" "c.753C>G" "r.(?)" "p.(Phe251Leu)" "" "0000855928" "00005483" "50" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Ala264=)" "" "0000855929" "00005483" "50" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Pro561Ser)" "" "0000866569" "00005483" "10" "50" "0" "50" "0" "c.50G>A" "r.(?)" "p.(Gly17Glu)" "" "0000866570" "00005483" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" "" "0000866571" "00005483" "10" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000866572" "00005483" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Pro111Ser)" "" "0000866573" "00005483" "50" "753" "0" "753" "0" "c.753C>G" "r.(?)" "p.(Phe251Leu)" "" "0000866574" "00005483" "10" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Pro303=)" "" "0000866575" "00005483" "10" "1304" "0" "1304" "0" "c.1304C>A" "r.(?)" "p.(Ala435Glu)" "" "0000866576" "00005483" "30" "1327" "0" "1327" "0" "c.1327A>G" "r.(?)" "p.(Ile443Val)" "" "0000866577" "00005483" "50" "1427" "0" "1427" "0" "c.1427C>G" "r.(?)" "p.(Pro476Arg)" "" "0000866578" "00005483" "10" "1603" "14" "1603" "14" "c.1603+14G>C" "r.(=)" "p.(=)" "" "0000866579" "00005483" "50" "1691" "0" "1691" "0" "c.1691C>T" "r.(?)" "p.(Pro564Leu)" "" "0000866580" "00005483" "10" "1740" "0" "1740" "0" "c.1740T>C" "r.(?)" "p.(Pro580=)" "" "0000874007" "00005483" "50" "738" "1" "738" "1" "c.738+1G>T" "r.(?)" "p.(?)" "" "0000895412" "00005483" "50" "86" "0" "86" "0" "c.86G>T" "r.(?)" "p.(Gly29Val)" "" "0000895413" "00005483" "30" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Pro218Ser)" "" "0000895414" "00005483" "10" "792" "19" "792" "19" "c.792+19G>A" "r.(=)" "p.(=)" "" "0000895415" "00005483" "50" "978" "0" "978" "0" "c.978T>G" "r.(?)" "p.(Ala326=)" "" "0000895416" "00005483" "50" "1756" "0" "1756" "0" "c.1756A>C" "r.(?)" "p.(Thr586Pro)" "" "0000915424" "00005483" "50" "543" "0" "551" "0" "c.543_551del" "r.(?)" "p.(Pro185_Gly187del)" "" "0000915425" "00005483" "50" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Pro312Ser)" "" "0000927046" "00005483" "30" "-3817" "0" "-3817" "0" "c.-3817C>A" "r.(?)" "p.(=)" "" "0000943938" "00005483" "50" "1427" "0" "1427" "0" "c.1427C>G" "r.(?)" "p.(Pro476Arg)" "" "0000970219" "00005483" "70" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Gly35Asp)" "" "0000970220" "00005483" "30" "630" "115" "630" "115" "c.630+115G>A" "r.(=)" "p.(=)" "" "0000970221" "00005483" "30" "900" "11" "900" "11" "c.900+11G>A" "r.(=)" "p.(=)" "" "0000970222" "00005483" "30" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Pro362Ser)" "" "0000983906" "00005483" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "" "0000983907" "00005483" "30" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000983908" "00005483" "30" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(=)" "" "0000983909" "00005483" "30" "1288" "-4" "1288" "-4" "c.1288-4C>T" "r.spl?" "p.?" "" "0000983910" "00005483" "50" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Arg524Cys)" "" "0000987787" "00005483" "30" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "" "0001005544" "00005483" "50" "242" "0" "242" "0" "c.242T>A" "r.(?)" "p.(Leu81Gln)" "" "0001005545" "00005483" "50" "753" "0" "753" "0" "c.753C>G" "r.(?)" "p.(Phe251Leu)" "" "0001005546" "00005483" "50" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276His)" "" "0001005547" "00005483" "50" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Pro312Ser)" "" "0001005548" "00005483" "10" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Asn483=)" "" "0001005549" "00005483" "50" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Ala542Val)" "" "0001005550" "00005483" "50" "1654" "0" "1654" "0" "c.1654T>C" "r.(?)" "p.(Ser552Pro)" "" "0001005551" "00005483" "30" "1817" "0" "1817" "0" "c.1817C>G" "r.(?)" "p.(Ala606Gly)" "" "0001005552" "00005483" "30" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Val626Met)" "" "0001027336" "00005483" "10" "255" "18" "255" "20" "c.255+18_255+20dup" "r.(=)" "p.(=)" "" "0001043501" "00005483" "50" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Gly115Arg)" "" "0001043502" "00005483" "50" "422" "0" "422" "0" "c.422C>G" "r.(?)" "p.(Pro141Arg)" "" "0001043503" "00005483" "50" "543" "0" "551" "0" "c.543_551del" "r.(?)" "p.(Pro185_Gly187del)" "" "0001043504" "00005483" "30" "630" "5" "630" "5" "c.630+5A>C" "r.spl?" "p.?" "" "0001043505" "00005483" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Gly295Arg)" "" "0001043506" "00005483" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Ser)" "" "0001043507" "00005483" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0001043508" "00005483" "50" "1708" "0" "1740" "0" "c.1708_1740del" "r.(?)" "p.(Ser570_Pro580del)" "" "0001043509" "00005483" "50" "1851" "0" "1851" "0" "c.1851C>A" "r.(?)" "p.(Asp617Glu)" "" "0001043510" "00005483" "50" "1853" "0" "1853" "0" "c.1853del" "r.(?)" "p.(Gln618Argfs*55)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000133127" "0000943938" "0000208747" "0000438698" "0000208748" "0000438699" "0000229236" "0000470385" "0000249594" "0000578402" "0000249595" "0000578414" "0000249596" "0000578403" "0000249597" "0000578404" "0000249598" "0000578405" "0000249599" "0000578411" "0000249600" "0000578418" "0000249601" "0000578419" "0000249602" "0000578406" "0000249603" "0000578407" "0000249604" "0000578408" "0000249605" "0000578409" "0000249606" "0000578410" "0000249607" "0000578412" "0000249608" "0000578413" "0000249609" "0000578415" "0000249610" "0000578416" "0000249612" "0000578420" "0000294129" "0000650818" "0000300748" "0000663556" "0000300748" "0000663557" "0000305996" "0000669684" "0000364418" "0000765198" "0000364419" "0000765199" "0000364420" "0000765200"