### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACAN) # 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}}" "ACAN" "aggrecan" "15" "q26.1" "unknown" "NG_012794.1" "UD_132085248977" "" "http://www.LOVD.nl/ACAN" "" "1" "319" "176" "155760" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ACAN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-08-31 15:26:23" "00006" "2025-11-20 12:33:25" ## 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}}" "00024162" "ACAN" "transcript variant 2" "001" "NM_013227.3" "" "NP_037359.3" "" "" "" "-374" "8466" "7593" "89346674" "89418585" "00006" "2016-08-31 15:18:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01480" "SSOAOD" "short stature and advanced bone age, with/without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)" "AD" "165800" "" "" "autosomal dominant" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01481" "OI1" "osteogenesis imperfecta, type I (OI1)" "AD" "166200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:46" "02756" "SEDK" "dysplasia, spondyloepiphyseal, Kimberley type (SEDK)" "AD" "608361" "" "" "autosomal dominant" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03194" "SEMDAG" "dysplasia, spondyloepimetaphyseal, Aggrecan type (SEMDAG)" "AR" "612813" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ACAN" "01480" "ACAN" "02756" "ACAN" "03194" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00079994" "" "" "" "1" "" "01746" "" "" "M" "no" "" "" "0" "" "" "" "" "00079995" "" "" "" "1" "" "01746" "" "" "M" "no" "" "" "0" "" "" "" "" "00079997" "" "" "" "1" "" "01746" "" "" "M" "no" "" "" "0" "" "" "" "" "00260782" "" "" "" "13" "" "01864" "" "" "M" "no" "China" ">08y" "0" "yes" "alendronate" "chinese" "III-11" "00260851" "" "" "00260782" "1" "" "01864" "" "" "F" "no" "China" "" "0" "yes" "" "chinese" "III-9" "00261194" "" "" "00260782" "1" "" "01864" "" "" "F" "no" "China" "" "0" "yes" "" "chinese" "I-4" "00261195" "" "" "00260782" "1" "" "01864" "" "" "F" "no" "China" "" "0" "yes" "" "chinese" "II-6" "00261197" "" "" "00260782" "1" "" "01864" "" "" "M" "no" "China" "" "0" "yes" "" "chinese" "II-7" "00261198" "" "" "00260782" "1" "" "01864" "" "" "M" "no" "China" "" "0" "yes" "" "chinese" "II-9" "00261199" "" "" "00260782" "1" "" "01864" "" "" "M" "no" "China" "" "0" "yes" "" "chinese" "II-11" "00261200" "" "" "00260782" "1" "" "01864" "" "" "M" "no" "China" "" "0" "yes" "" "chinese" "III-14" "00261201" "" "" "00260782" "1" "" "01864" "" "" "M" "no" "China" "" "0" "yes" "" "chinese" "III-17" "00320133" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00375198" "" "" "" "6" "" "03894" "" "4-generation family, 6 affected (3M, 3F)." "F" "no" "China" "" "0" "" "" "Chinese" "" "00375199" "" "" "" "9" "" "03894" "" "5-generation family, 9 affected (6M, 3F)" "M" "no" "China" "" "0" "" "" "Chinese" "" "00375200" "" "" "" "1" "" "03894" "" "3-generation family, 1 affected, unaffected heterozygous carrier parents and grandparents." "F" "no" "China" "" "0" "" "" "Chinese" "" "00465297" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "152848" "00469784" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, affected child/mother" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00079994" "04184" "00079995" "04184" "00079997" "04184" "00260782" "01480" "00260782" "01481" "00260851" "01480" "00260851" "01481" "00261194" "01480" "00261195" "01480" "00261197" "01480" "00261198" "01480" "00261199" "01480" "00261200" "01480" "00261201" "01480" "00320133" "00198" "00375198" "02756" "00375199" "02756" "00375200" "03194" "00465297" "01480" "00469784" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01480, 01481, 02756, 03194, 04184, 05517 ## Count = 20 "{{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}}" "0000059629" "04184" "00079994" "01746" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059630" "04184" "00079995" "01746" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059631" "04184" "00079997" "01746" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199334" "01481" "00260782" "01864" "Familial, autosomal dominant" "05y11m" "1 fracture,\r\n(HP:0000703) Dentinogenesis imperfecta,\r\n(HP:0002980) Femoral bowing,\r\n(HP:0000592) Blue sclerae" "?" "06y?" "?" "?" "" "" "" "" "short stature and osteogenesis imperfecta, type I" "short stature" "" "0000199335" "04184" "00260782" "01864" "Familial, autosomal dominant" "05y11m" "(HP:0004322) Short stature" "?" "06y?" "?" "?" "" "" "" "" "short stature and osteogenesis imperfecta, type I" "short stature" "" "0000199383" "01481" "00260851" "01864" "Familial, autosomal dominant" "" "2 fracture" "" "" "" "" "" "" "" "" "" "" "" "0000199402" "04184" "00260851" "01864" "Familial, autosomal dominant" "" "short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000199700" "01480" "00261194" "01864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199701" "01480" "00261195" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199702" "01480" "00261197" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199703" "01480" "00261198" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199704" "01480" "00261199" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199705" "01480" "00261200" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199706" "01480" "00261201" "01864" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242179" "00198" "00320133" "01807" "Unknown" "" "Short stature (HP:0004322); Disproportionate short-limb short stature (HP:0008873); Neonatal short-trunk short stature (HP:0008857)" "" "" "" "" "" "" "" "" "" "" "" "0000270408" "05346" "00375198" "03894" "Familial, autosomal dominant" "" "Short stature" "" "" "" "" "" "" "" "" "" "" "" "0000270409" "02756" "00375199" "03894" "Familial, autosomal dominant" "" "Short stature." "" "" "" "" "" "" "" "" "" "" "" "0000270410" "03194" "00375200" "03894" "Familial, autosomal recessive" "" "Short stature" "" "" "" "" "" "" "" "" "" "" "" "0000350850" "01480" "00465297" "01164" "Unknown" "14y" "Short stature, Relative macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000354929" "05517" "00469784" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SSOAOD" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080072" "00079994" "1" "01746" "01746" "2016-08-31 13:54:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000080073" "00079995" "1" "01746" "01746" "2016-08-31 14:11:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000080075" "00079997" "1" "01746" "01746" "2016-08-31 14:25:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000261907" "00260782" "1" "01864" "01864" "2019-08-08 02:55:28" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000261973" "00260851" "1" "01864" "01864" "2019-08-09 10:44:31" "" "" "SEQ" "DNA" "blood" "" "0000262300" "00261194" "1" "01864" "01864" "2019-08-12 08:40:49" "" "" "SEQ" "DNA" "blood" "" "0000262301" "00261195" "1" "01864" "01864" "2019-08-12 08:44:52" "" "" "SEQ" "DNA" "blood" "" "0000262302" "00261197" "1" "01864" "01864" "2019-08-12 08:47:31" "" "" "SEQ" "DNA" "blood" "" "0000262303" "00261198" "1" "01864" "01864" "2019-08-12 08:49:52" "" "" "SEQ" "DNA" "blood" "" "0000262304" "00261199" "1" "01864" "01864" "2019-08-12 08:52:22" "" "" "SEQ" "DNA" "blood" "" "0000262305" "00261200" "1" "01864" "01864" "2019-08-12 08:56:24" "" "" "SEQ" "DNA" "blood" "" "0000262306" "00261201" "1" "01864" "01864" "2019-08-12 08:59:25" "" "" "SEQ" "DNA" "blood" "" "0000321318" "00320133" "1" "01807" "01807" "2020-11-23 17:34:05" "" "" "SEQ" "DNA" "" "" "0000376392" "00375198" "1" "03894" "03894" "2021-05-30 07:32:23" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000376393" "00375199" "1" "03894" "03894" "2021-05-30 08:05:25" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000376394" "00375200" "1" "03894" "03894" "2021-05-30 08:18:38" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000466945" "00465297" "1" "01164" "01164" "2025-05-08 12:00:59" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471452" "00469784" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000080072" "ACAN" "0000080073" "ACAN" "0000080075" "ACAN" "0000261907" "ACAN" "0000261907" "COL1A1" "0000261973" "ACAN" "0000261973" "COL1A1" "0000262300" "ACAN" "0000262301" "ACAN" "0000262302" "ACAN" "0000262303" "ACAN" "0000262304" "ACAN" "0000262305" "ACAN" "0000262306" "ACAN" "0000376392" "ACAN" "0000376393" "ACAN" "0000376394" "ACAN" "0000466945" "ACAN" ## 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 = 609 "{{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}}" "0000128949" "11" "90" "15" "89379443" "89379450" "del" "0" "01746" "ACAN_000001" "g.89379443_89379450del" "" "" "" "6_13delCACTTTAC (T3fsX21)" "" "Germline" "yes" "" "0" "" "" "g.88836212_88836219del" "" "pathogenic" "" "0000128950" "21" "90" "15" "89385002" "89385002" "del" "0" "01746" "ACAN_000002" "g.89385002del" "" "" "" "661delT (Y221fsX10)" "" "Germline" "yes" "" "0" "" "" "g.88841771del" "" "pathogenic" "" "0000128952" "11" "90" "15" "89388804" "89388807" "del" "0" "01746" "ACAN_000003" "g.89388804_89388807del" "" "" "" "1117_1120delCAGA (T374X)" "" "Germline" "yes" "" "0" "" "" "g.88845573_88845576del" "" "pathogenic" "" "0000248750" "0" "10" "15" "89400339" "89400339" "subst" "0.52579" "02325" "ACAN_000029" "g.89400339A>C" "" "" "" "ACAN(NM_013227.4):c.4523A>C (p.E1508A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88857108A>C" "" "benign" "" "0000248781" "0" "10" "15" "89401109" "89401109" "subst" "0.744801" "02325" "ACAN_000032" "g.89401109A>G" "" "" "" "ACAN(NM_013227.4):c.5293A>G (p.I1765V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88857878A>G" "" "benign" "" "0000248787" "0" "10" "15" "89402051" "89402051" "subst" "0.673956" "02325" "ACAN_000033" "g.89402051A>G" "" "" "" "ACAN(NM_013227.4):c.6235A>G (p.I2079V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88858820A>G" "" "benign" "" "0000248878" "0" "10" "15" "89417238" "89417238" "subst" "0.284871" "02325" "ACAN_000040" "g.89417238A>G" "" "" "" "ACAN(NM_013227.4):c.7499A>G (p.Q2500R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88874007A>G" "" "benign" "" "0000248919" "0" "10" "15" "89400023" "89400023" "subst" "0.0810136" "02325" "ACAN_000027" "g.89400023A>G" "" "" "" "ACAN(NM_001135.3):c.4207A>G (p.(Thr1403Ala)), ACAN(NM_013227.4):c.4207A>G (p.T1403A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88856792A>G" "" "benign" "" "0000255114" "0" "30" "15" "89398769" "89398769" "subst" "0" "01943" "ACAN_000023" "g.89398769A>G" "" "" "" "ACAN(NM_001135.3):c.2953A>G (p.(Thr985Ala)), ACAN(NM_013227.3):c.2953A>G (p.T985A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855538A>G" "" "likely benign" "" "0000258876" "0" "10" "15" "89391160" "89391160" "subst" "0.684345" "02325" "ACAN_000013" "g.89391160C>A" "" "" "" "ACAN(NM_013227.4):c.1623C>A (p.P541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847929C>A" "" "benign" "" "0000258877" "0" "10" "15" "89392745" "89392745" "subst" "0.990243" "02325" "ACAN_000015" "g.89392745T>C" "" "" "" "ACAN(NM_013227.4):c.1809T>C (p.A603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88849514T>C" "" "benign" "" "0000258878" "0" "10" "15" "89398105" "89398105" "subst" "0.505675" "02325" "ACAN_000016" "g.89398105C>T" "" "" "" "ACAN(NM_013227.4):c.2289C>T (p.P763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88854874C>T" "" "benign" "" "0000258879" "0" "10" "15" "89398330" "89398330" "subst" "0.743156" "02325" "ACAN_000018" "g.89398330G>A" "" "" "" "ACAN(NM_013227.4):c.2514G>A (p.S838=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855099G>A" "" "benign" "" "0000258880" "0" "10" "15" "89398407" "89398407" "subst" "0.152415" "02325" "ACAN_000019" "g.89398407C>T" "" "" "" "ACAN(NM_013227.4):c.2591C>T (p.P864L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855176C>T" "" "benign" "" "0000258881" "0" "10" "15" "89398605" "89398605" "subst" "0.532054" "02325" "ACAN_000020" "g.89398605G>T" "" "" "" "ACAN(NM_013227.4):c.2789G>T (p.S930I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855374G>T" "" "benign" "" "0000258882" "0" "10" "15" "89398631" "89398631" "subst" "0.509046" "02325" "ACAN_000021" "g.89398631T>A" "" "" "" "ACAN(NM_013227.4):c.2815T>A (p.S939T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855400T>A" "" "benign" "" "0000258883" "0" "10" "15" "89398825" "89398825" "subst" "0.281529" "02325" "ACAN_000024" "g.89398825C>T" "" "" "" "ACAN(NM_013227.4):c.3009C>T (p.T1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855594C>T" "" "benign" "" "0000258884" "0" "10" "15" "89399111" "89399111" "subst" "0" "02325" "ACAN_000025" "g.89399111G>A" "" "" "" "ACAN(NM_001135.3):c.3295G>A (p.(Ala1099Thr)), ACAN(NM_013227.4):c.3295G>A (p.A1099T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855880G>A" "" "benign" "" "0000258885" "0" "10" "15" "89402239" "89402239" "subst" "0.730304" "02325" "ACAN_000034" "g.89402239T>C" "" "" "" "ACAN(NM_013227.4):c.6423T>C (p.L2141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88859008T>C" "" "benign" "" "0000258886" "0" "10" "15" "89402596" "89402596" "subst" "0.550915" "02325" "ACAN_000037" "g.89402596T>G" "" "" "" "ACAN(NM_013227.4):c.6780T>G (p.A2260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88859365T>G" "" "benign" "" "0000258887" "0" "10" "15" "89415247" "89415247" "subst" "0.201699" "02325" "ACAN_000039" "g.89415247C>G" "" "" "" "ACAN(NM_013227.4):c.7119C>G (p.D2373E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88872016C>G" "" "benign" "" "0000258888" "0" "10" "15" "89417629" "89417629" "subst" "0.200916" "02325" "ACAN_000041" "g.89417629G>A" "" "" "" "ACAN(NM_013227.4):c.7517-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88874398G>A" "" "benign" "" "0000261763" "0" "30" "15" "89388871" "89388871" "subst" "8.1357E-6" "01943" "ACAN_000007" "g.89388871G>C" "" "" "" "ACAN(NM_013227.3):c.1187G>C (p.S396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88845640G>C" "" "likely benign" "" "0000261764" "0" "10" "15" "89389050" "89389050" "subst" "0.00571731" "01943" "ACAN_000008" "g.89389050T>C" "" "" "" "ACAN(NM_001135.3):c.1366T>C (p.(Phe456Leu)), ACAN(NM_013227.3):c.1366T>C (p.F456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88845819T>C" "" "benign" "" "0000261765" "0" "10" "15" "89390513" "89390513" "subst" "0.0114739" "01943" "ACAN_000010" "g.89390513C>T" "" "" "" "ACAN(NM_001135.3):c.1469C>T (p.(Ser490Leu)), ACAN(NM_013227.3):c.1469C>T (p.S490L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847282C>T" "" "benign" "" "0000261766" "0" "30" "15" "89391148" "89391148" "subst" "4.06908E-6" "01943" "ACAN_000012" "g.89391148C>T" "" "" "" "ACAN(NM_013227.3):c.1611C>T (p.P537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847917C>T" "" "likely benign" "" "0000261767" "0" "30" "15" "89398167" "89398167" "subst" "3.63722E-5" "01943" "ACAN_000017" "g.89398167C>T" "" "" "" "ACAN(NM_001135.3):c.2351C>T (p.(Ser784Leu)), ACAN(NM_013227.3):c.2351C>T (p.S784L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88854936C>T" "" "likely benign" "" "0000261768" "0" "30" "15" "89399936" "89399936" "subst" "0.00136879" "01943" "ACAN_000026" "g.89399936G>A" "" "" "" "ACAN(NM_001135.3):c.4120G>A (p.(Gly1374Arg)), ACAN(NM_013227.3):c.4120G>A (p.G1374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88856705G>A" "" "likely benign" "" "0000261769" "0" "30" "15" "89400040" "89400040" "subst" "4.11889E-5" "01943" "ACAN_000028" "g.89400040G>T" "" "" "" "ACAN(NM_001135.3):c.4224G>T (p.(Glu1408Asp)), ACAN(NM_013227.3):c.4224G>T (p.E1408D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88856809G>T" "" "likely benign" "" "0000324253" "0" "30" "15" "89381936" "89381936" "subst" "0.000706914" "01804" "ACAN_000004" "g.89381936C>T" "" "" "" "ACAN(NM_001135.3):c.113C>T (p.(Pro38Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88838705C>T" "" "likely benign" "" "0000324254" "0" "90" "15" "89385047" "89385047" "subst" "0" "01804" "ACAN_000005" "g.89385047C>T" "" "" "" "ACAN(NM_001135.3):c.706C>T (p.(Arg236*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88841816C>T" "" "pathogenic" "" "0000324255" "0" "50" "15" "89386688" "89386688" "subst" "2.0675E-5" "01804" "ACAN_000006" "g.89386688A>G" "" "" "" "ACAN(NM_001135.3):c.860A>G (p.(Tyr287Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88843457A>G" "" "VUS" "" "0000324256" "0" "50" "15" "89390506" "89390506" "subst" "0" "01804" "ACAN_000009" "g.89390506C>T" "" "" "" "ACAN(NM_001135.3):c.1462C>T (p.(Arg488Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847275C>T" "" "VUS" "" "0000324257" "0" "30" "15" "89390534" "89390534" "subst" "0.00100568" "01804" "ACAN_000011" "g.89390534A>T" "" "" "" "ACAN(NM_001135.3):c.1490A>T (p.(Gln497Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847303A>T" "" "likely benign" "" "0000324258" "0" "50" "15" "89391245" "89391245" "subst" "1.62477E-5" "01804" "ACAN_000014" "g.89391245T>C" "" "" "" "ACAN(NM_001135.3):c.1708T>C (p.(Tyr570His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88848014T>C" "" "VUS" "" "0000324259" "0" "50" "15" "89398658" "89398658" "subst" "0.000357416" "01804" "ACAN_000022" "g.89398658G>C" "" "" "" "ACAN(NM_001135.3):c.2842G>C (p.(Ala948Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855427G>C" "" "VUS" "" "0000324260" "0" "50" "15" "89400821" "89400821" "subst" "0" "01804" "ACAN_000030" "g.89400821G>A" "" "" "" "ACAN(NM_001135.3):c.5005G>A (p.(Val1669Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88857590G>A" "" "VUS" "" "0000324261" "0" "30" "15" "89400963" "89400963" "subst" "0.015015" "01804" "ACAN_000031" "g.89400963G>T" "" "" "" "ACAN(NM_001135.3):c.5147G>T (p.(Ser1716Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88857732G>T" "" "likely benign" "" "0000324262" "0" "90" "15" "89402489" "89402489" "subst" "0" "01804" "ACAN_000035" "g.89402489C>T" "" "" "" "ACAN(NM_001135.3):c.6673C>T (p.(Gln2225Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88859258C>T" "" "pathogenic" "" "0000324263" "0" "50" "15" "89402504" "89402504" "subst" "0.000227967" "01804" "ACAN_000036" "g.89402504G>T" "" "" "" "ACAN(NM_001135.3):c.6688G>T (p.(Ala2230Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88859273G>T" "" "VUS" "" "0000340530" "0" "10" "15" "89382027" "89382027" "subst" "0.00751354" "02327" "ACAN_000043" "g.89382027A>C" "" "" "" "ACAN(NM_001135.3):c.204A>C (p.(Pro68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88838796A>C" "" "benign" "" "0000340532" "0" "10" "15" "89383370" "89383370" "subst" "0.00182201" "02327" "ACAN_000046" "g.89383370C>T" "" "" "" "ACAN(NM_001135.3):c.582C>T (p.(Asp194=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88840139C>T" "" "benign" "" "0000340533" "0" "10" "15" "89388905" "89388905" "subst" "0.0377904" "02327" "ACAN_000050" "g.89388905C>T" "" "" "" "ACAN(NM_001135.3):c.1221C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88845674C>T" "" "benign" "" "0000340534" "0" "10" "15" "89390619" "89390619" "subst" "0.000472504" "02327" "ACAN_000052" "g.89390619C>T" "" "" "" "ACAN(NM_001135.3):c.1575C>T (p.(Asp525=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847388C>T" "" "benign" "" "0000340535" "0" "10" "15" "89414749" "89414749" "subst" "0.0119204" "02327" "ACAN_000063" "g.89414749C>T" "" "" "" "ACAN(NM_001135.3):c.6969C>T (p.(Pro2323=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88871518C>T" "" "benign" "" "0000340536" "0" "30" "15" "89417149" "89417149" "subst" "0.00255606" "02327" "ACAN_000065" "g.89417149C>T" "" "" "" "ACAN(NM_013227.3):c.7410C>T (p.(Ser2470=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88873918C>T" "" "likely benign" "" "0000341532" "0" "30" "15" "89392818" "89392818" "subst" "0.0147052" "02327" "ACAN_000056" "g.89392818G>A" "" "" "" "ACAN(NM_001135.3):c.1882G>A (p.(Ala628Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88849587G>A" "" "likely benign" "" "0000341548" "0" "30" "15" "89382022" "89382022" "subst" "0.00134441" "02327" "ACAN_000042" "g.89382022G>A" "" "" "" "ACAN(NM_001135.3):c.199G>A (p.(Ala67Thr)), ACAN(NM_013227.3):c.199G>A (p.A67T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88838791G>A" "" "likely benign" "" "0000342509" "0" "10" "15" "89386652" "89386652" "subst" "0.129859" "02327" "ACAN_000047" "g.89386652G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88843421G>A" "" "benign" "" "0000343136" "0" "30" "15" "89392689" "89392689" "subst" "0.0138629" "02327" "ACAN_000055" "g.89392689C>A" "" "" "" "ACAN(NM_001135.3):c.1753C>A (p.(Arg585Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88849458C>A" "" "likely benign" "" "0000343811" "0" "50" "15" "89392909" "89392909" "subst" "6.14311E-5" "02327" "ACAN_000057" "g.89392909A>G" "" "" "" "ACAN(NM_001135.3):c.1973A>G (p.(Asn658Ser)), ACAN(NM_013227.3):c.1973A>G (p.N658S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88849678A>G" "" "VUS" "" "0000343866" "0" "10" "15" "89382129" "89382129" "subst" "0.0155533" "02327" "ACAN_000044" "g.89382129C>A" "" "" "" "ACAN(NM_001135.3):c.306C>A (p.(Asp102Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88838898C>A" "" "benign" "" "0000344008" "0" "10" "15" "89415247" "89415247" "subst" "0.201699" "02327" "ACAN_000039" "g.89415247C>G" "" "" "" "ACAN(NM_013227.4):c.7119C>G (p.D2373E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88872016C>G" "" "benign" "" "0000344049" "0" "70" "15" "89386740" "89386740" "subst" "0" "02327" "ACAN_000048" "g.89386740C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88843509C>A" "" "likely pathogenic" "" "0000344684" "0" "90" "15" "89414756" "89414756" "subst" "0" "02327" "ACAN_000064" "g.89414756C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88871525C>T" "" "pathogenic" "" "0000344700" "0" "10" "15" "89417238" "89417238" "subst" "0.284871" "02327" "ACAN_000040" "g.89417238A>G" "" "" "" "ACAN(NM_013227.4):c.7499A>G (p.Q2500R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88874007A>G" "" "benign" "" "0000345806" "0" "50" "15" "89401235" "89401235" "subst" "1.62476E-5" "02327" "ACAN_000061" "g.89401235G>A" "" "" "" "ACAN(NM_001135.3):c.5419G>A (p.(Gly1807Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88858004G>A" "" "VUS" "" "0000346717" "0" "10" "15" "89388894" "89388894" "subst" "0.0139463" "02327" "ACAN_000049" "g.89388894A>G" "" "" "" "ACAN(NM_001135.3):c.1210A>G (p.(Ile404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88845663A>G" "" "benign" "" "0000348051" "0" "10" "15" "89389050" "89389050" "subst" "0.00571731" "02327" "ACAN_000008" "g.89389050T>C" "" "" "" "ACAN(NM_001135.3):c.1366T>C (p.(Phe456Leu)), ACAN(NM_013227.3):c.1366T>C (p.F456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88845819T>C" "" "benign" "" "0000348466" "0" "50" "15" "89389099" "89389099" "subst" "0" "02327" "ACAN_000051" "g.89389099C>T" "" "" "" "ACAN(NM_001135.3):c.1415C>T (p.(Pro472Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88845868C>T" "" "VUS" "" "0000348614" "0" "10" "15" "89398553" "89398553" "subst" "0.10296" "02327" "ACAN_000058" "g.89398553C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855322C>A" "" "benign" "" "0000348776" "0" "30" "15" "89400963" "89400963" "subst" "0.015015" "02327" "ACAN_000031" "g.89400963G>T" "" "" "" "ACAN(NM_001135.3):c.5147G>T (p.(Ser1716Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88857732G>T" "" "likely benign" "" "0000349052" "0" "10" "15" "89390513" "89390513" "subst" "0.0114739" "02327" "ACAN_000010" "g.89390513C>T" "" "" "" "ACAN(NM_001135.3):c.1469C>T (p.(Ser490Leu)), ACAN(NM_013227.3):c.1469C>T (p.S490L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847282C>T" "" "benign" "" "0000349214" "0" "10" "15" "89398631" "89398631" "subst" "0.509046" "02327" "ACAN_000021" "g.89398631T>A" "" "" "" "ACAN(NM_013227.4):c.2815T>A (p.S939T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88855400T>A" "" "benign" "" "0000349306" "0" "10" "15" "89400680" "89400680" "subst" "0.0402039" "02327" "ACAN_000060" "g.89400680A>G" "" "" "" "ACAN(NM_001135.3):c.4864A>G (p.(Thr1622Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88857449A>G" "" "benign" "" "0000350130" "0" "90" "15" "89391145" "89391145" "subst" "0" "02327" "ACAN_000053" "g.89391145C>A" "" "" "" "ACAN(NM_001135.3):c.1608C>A (p.(Tyr536Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88847914C>A" "" "pathogenic" "" "0000350374" "0" "10" "15" "89401616" "89401616" "subst" "0.0150866" "02327" "ACAN_000062" "g.89401616G>C" "" "" "" "ACAN(NM_001135.3):c.5800G>C (p.(Val1934Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88858385G>C" "" "benign" "" "0000351418" "0" "30" "15" "89417256" "89417256" "subst" "0" "02327" "ACAN_000066" "g.89417256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88874025G>A" "" "likely benign" "" "0000555810" "0" "50" "15" "89379442" "89379442" "subst" "1.62607E-5" "01804" "ACAN_000067" "g.89379442C>T" "" "" "" "ACAN(NM_001135.3):c.5C>T (p.(Thr2Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88836211C>T" "" "VUS" "" "0000555811" "0" "30" "15" "89381907" "89381907" "subst" "8.97312E-5" "01804" "ACAN_000068" "g.89381907G>A" "" "" "" "ACAN(NM_001135.3):c.84G>A (p.(Ser28=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838676G>A" "" "likely benign" "" "0000555812" "0" "30" "15" "89382009" "89382009" "subst" "0.000844945" "01804" "ACAN_000069" "g.89382009C>T" "" "" "" "ACAN(NM_001135.3):c.186C>T (p.(Thr62=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838778C>T" "" "likely benign" "" "0000555813" "0" "50" "15" "89382022" "89382022" "subst" "0.00134441" "01943" "ACAN_000042" "g.89382022G>A" "" "" "" "ACAN(NM_001135.3):c.199G>A (p.(Ala67Thr)), ACAN(NM_013227.3):c.199G>A (p.A67T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838791G>A" "" "VUS" "" "0000555814" "0" "30" "15" "89382022" "89382022" "subst" "0.00134441" "01804" "ACAN_000042" "g.89382022G>A" "" "" "" "ACAN(NM_001135.3):c.199G>A (p.(Ala67Thr)), ACAN(NM_013227.3):c.199G>A (p.A67T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838791G>A" "" "likely benign" "" "0000555815" "0" "50" "15" "89382052" "89382052" "subst" "4.46748E-5" "01804" "ACAN_000070" "g.89382052C>T" "" "" "" "ACAN(NM_001135.3):c.229C>T (p.(Arg77Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838821C>T" "" "VUS" "" "0000555816" "0" "30" "15" "89382053" "89382053" "subst" "0.00160832" "01804" "ACAN_000071" "g.89382053G>A" "" "" "" "ACAN(NM_001135.3):c.230G>A (p.(Arg77His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838822G>A" "" "likely benign" "" "0000555817" "0" "10" "15" "89382053" "89382053" "subst" "0.00160832" "02327" "ACAN_000071" "g.89382053G>A" "" "" "" "ACAN(NM_001135.3):c.230G>A (p.(Arg77His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838822G>A" "" "benign" "" "0000555818" "0" "30" "15" "89382129" "89382129" "subst" "0.0155533" "01804" "ACAN_000044" "g.89382129C>A" "" "" "" "ACAN(NM_001135.3):c.306C>A (p.(Asp102Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838898C>A" "" "likely benign" "" "0000555819" "0" "50" "15" "89382217" "89382217" "subst" "0.00112688" "01804" "ACAN_000072" "g.89382217C>T" "" "" "" "ACAN(NM_001135.3):c.394C>T (p.(Arg132Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838986C>T" "" "VUS" "" "0000555820" "0" "50" "15" "89382223" "89382223" "subst" "3.69844E-5" "01943" "ACAN_000073" "g.89382223G>A" "" "" "" "ACAN(NM_001135.3):c.400G>A (p.(Glu134Lys)), ACAN(NM_013227.3):c.400G>A (p.E134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838992G>A" "" "VUS" "" "0000555821" "0" "10" "15" "89382261" "89382261" "subst" "0.00705023" "01804" "ACAN_000074" "g.89382261G>A" "" "" "" "ACAN(NM_001135.3):c.438G>A (p.(Leu146=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88839030G>A" "" "benign" "" "0000555822" "0" "30" "15" "89382289" "89382289" "subst" "1.28918E-5" "01804" "ACAN_000075" "g.89382289C>G" "" "" "" "ACAN(NM_001135.3):c.454+12C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88839058C>G" "" "likely benign" "" "0000555823" "0" "50" "15" "89383226" "89383226" "subst" "0.000152106" "01804" "ACAN_000076" "g.89383226G>A" "" "" "" "ACAN(NM_001135.3):c.455-17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88839995G>A" "" "VUS" "" "0000555824" "0" "30" "15" "89383244" "89383244" "subst" "0.000108716" "01804" "ACAN_000045" "g.89383244C>T" "" "" "" "ACAN(NM_001135.3):c.456C>T (p.(Gly152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88840013C>T" "" "likely benign" "" "0000555825" "0" "70" "15" "89385036" "89385036" "subst" "0" "02329" "ACAN_000077" "g.89385036C>T" "" "" "" "ACAN(NM_013227.4):c.695C>T (p.T232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88841805C>T" "" "likely pathogenic" "" "0000555827" "0" "70" "15" "89385083" "89385083" "subst" "5.68953E-5" "01804" "ACAN_000079" "g.89385083G>A" "" "" "" "ACAN(NM_001135.3):c.742G>A (p.(Ala248Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88841852G>A" "" "likely pathogenic" "" "0000555828" "0" "50" "15" "89386721" "89386721" "subst" "8.32847E-6" "01943" "ACAN_000080" "g.89386721G>A" "" "" "" "ACAN(NM_013227.3):c.893G>A (p.S298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843490G>A" "" "VUS" "" "0000555829" "0" "30" "15" "89386723" "89386723" "subst" "0.000112376" "01804" "ACAN_000081" "g.89386723G>A" "" "" "" "ACAN(NM_001135.3):c.895G>A (p.(Ala299Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843492G>A" "" "likely benign" "" "0000555830" "0" "50" "15" "89386741" "89386741" "subst" "0.000206967" "01804" "ACAN_000082" "g.89386741C>T" "" "" "" "ACAN(NM_001135.3):c.913C>T (p.(Arg305Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843510C>T" "" "VUS" "" "0000555831" "0" "50" "15" "89386841" "89386841" "subst" "2.526E-5" "01804" "ACAN_000083" "g.89386841C>T" "" "" "" "ACAN(NM_001135.3):c.1013C>T (p.(Pro338Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843610C>T" "" "VUS" "" "0000555832" "0" "50" "15" "89386852" "89386852" "subst" "0" "01804" "ACAN_000084" "g.89386852T>C" "" "" "" "ACAN(NM_001135.3):c.1024T>C (p.(Ser342Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843621T>C" "" "VUS" "" "0000555833" "0" "10" "15" "89386888" "89386888" "subst" "0.0266511" "01804" "ACAN_000085" "g.89386888C>T" "" "" "" "ACAN(NM_001135.3):c.1051+9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843657C>T" "" "benign" "" "0000555834" "0" "10" "15" "89386888" "89386888" "subst" "0.0266511" "02327" "ACAN_000085" "g.89386888C>T" "" "" "" "ACAN(NM_001135.3):c.1051+9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843657C>T" "" "benign" "" "0000555835" "0" "10" "15" "89386889" "89386889" "subst" "0.0112665" "01804" "ACAN_000086" "g.89386889G>A" "" "" "" "ACAN(NM_001135.3):c.1051+10G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843658G>A" "" "benign" "" "0000555836" "0" "30" "15" "89388894" "89388894" "subst" "0.0139463" "01804" "ACAN_000049" "g.89388894A>G" "" "" "" "ACAN(NM_001135.3):c.1210A>G (p.(Ile404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88845663A>G" "" "likely benign" "" "0000555837" "0" "30" "15" "89388905" "89388905" "subst" "0.0377904" "01804" "ACAN_000050" "g.89388905C>T" "" "" "" "ACAN(NM_001135.3):c.1221C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88845674C>T" "" "likely benign" "" "0000555838" "0" "30" "15" "89388920" "89388920" "subst" "0.00702905" "01804" "ACAN_000087" "g.89388920G>A" "" "" "" "ACAN(NM_001135.3):c.1236G>A (p.(Leu412=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88845689G>A" "" "likely benign" "" "0000555839" "0" "30" "15" "89389050" "89389050" "subst" "0.00571731" "01804" "ACAN_000008" "g.89389050T>C" "" "" "" "ACAN(NM_001135.3):c.1366T>C (p.(Phe456Leu)), ACAN(NM_013227.3):c.1366T>C (p.F456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88845819T>C" "" "likely benign" "" "0000555840" "0" "30" "15" "89389082" "89389082" "subst" "0.00431347" "01804" "ACAN_000088" "g.89389082C>T" "" "" "" "ACAN(NM_001135.3):c.1398C>T (p.(Thr466=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88845851C>T" "" "likely benign" "" "0000555841" "0" "30" "15" "89390471" "89390471" "subst" "0" "01804" "ACAN_000089" "g.89390471C>T" "" "" "" "ACAN(NM_001135.3):c.1430-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847240C>T" "" "likely benign" "" "0000555842" "0" "50" "15" "89390479" "89390479" "subst" "7.13258E-5" "01804" "ACAN_000090" "g.89390479G>A" "" "" "" "ACAN(NM_001135.3):c.1435G>A (p.(Val479Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847248G>A" "" "VUS" "" "0000555843" "0" "30" "15" "89390491" "89390491" "subst" "1.24656E-5" "01804" "ACAN_000091" "g.89390491C>T" "" "" "" "ACAN(NM_001135.3):c.1447C>T (p.(Arg483Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847260C>T" "" "likely benign" "" "0000555844" "0" "50" "15" "89390492" "89390492" "subst" "0.000290453" "01804" "ACAN_000092" "g.89390492G>A" "" "" "" "ACAN(NM_001135.3):c.1448G>A (p.(Arg483His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847261G>A" "" "VUS" "" "0000555845" "0" "30" "15" "89390513" "89390513" "subst" "0.0114739" "01804" "ACAN_000010" "g.89390513C>T" "" "" "" "ACAN(NM_001135.3):c.1469C>T (p.(Ser490Leu)), ACAN(NM_013227.3):c.1469C>T (p.S490L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847282C>T" "" "likely benign" "" "0000555846" "0" "30" "15" "89390520" "89390520" "subst" "0.011363" "01804" "ACAN_000093" "g.89390520C>G" "" "" "" "ACAN(NM_001135.3):c.1476C>G (p.(Thr492=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847289C>G" "" "likely benign" "" "0000555847" "0" "30" "15" "89390548" "89390548" "subst" "0.000765738" "01804" "ACAN_000094" "g.89390548C>T" "" "" "" "ACAN(NM_001135.3):c.1504C>T (p.(Arg502Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847317C>T" "" "likely benign" "" "0000555848" "0" "50" "15" "89390551" "89390551" "subst" "2.12031E-5" "02327" "ACAN_000095" "g.89390551A>T" "" "" "" "ACAN(NM_001135.3):c.1507A>T (p.(Thr503Ser)), ACAN(NM_013227.3):c.1507A>T (p.T503S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847320A>T" "" "VUS" "" "0000555849" "0" "30" "15" "89390559" "89390559" "subst" "0.00640341" "01804" "ACAN_000096" "g.89390559G>A" "" "" "" "ACAN(NM_001135.3):c.1515G>A (p.(Ala505=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847328G>A" "" "likely benign" "" "0000555850" "0" "30" "15" "89390574" "89390574" "subst" "0.00629693" "01804" "ACAN_000097" "g.89390574G>A" "" "" "" "ACAN(NM_001135.3):c.1530G>A (p.(Pro510=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847343G>A" "" "likely benign" "" "0000555851" "0" "90" "15" "89391145" "89391145" "subst" "0" "01804" "ACAN_000053" "g.89391145C>A" "" "" "" "ACAN(NM_001135.3):c.1608C>A (p.(Tyr536Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847914C>A" "" "pathogenic" "" "0000555852" "0" "50" "15" "89391239" "89391239" "subst" "2.4371E-5" "01804" "ACAN_000098" "g.89391239G>A" "" "" "" "ACAN(NM_001135.3):c.1702G>A (p.(Asp568Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88848008G>A" "" "VUS" "" "0000555853" "0" "30" "15" "89391256" "89391256" "subst" "0.00691583" "01804" "ACAN_000099" "g.89391256A>G" "" "" "" "ACAN(NM_001135.3):c.1719A>G (p.(Val573=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88848025A>G" "" "likely benign" "" "0000555854" "0" "30" "15" "89392689" "89392689" "subst" "0.0138629" "01804" "ACAN_000055" "g.89392689C>A" "" "" "" "ACAN(NM_001135.3):c.1753C>A (p.(Arg585Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849458C>A" "" "likely benign" "" "0000555855" "0" "50" "15" "89392759" "89392759" "subst" "0" "02327" "ACAN_000100" "g.89392759C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849528C>T" "" "VUS" "" "0000555856" "0" "30" "15" "89392786" "89392786" "subst" "0.00662554" "01804" "ACAN_000101" "g.89392786G>A" "" "" "" "ACAN(NM_001135.3):c.1850G>A (p.(Arg617His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849555G>A" "" "likely benign" "" "0000555857" "0" "30" "15" "89392802" "89392802" "subst" "0.00661248" "01804" "ACAN_000102" "g.89392802C>T" "" "" "" "ACAN(NM_001135.3):c.1866C>T (p.(Cys622=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849571C>T" "" "likely benign" "" "0000555858" "0" "30" "15" "89392818" "89392818" "subst" "0.0147052" "01804" "ACAN_000056" "g.89392818G>A" "" "" "" "ACAN(NM_001135.3):c.1882G>A (p.(Ala628Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849587G>A" "" "likely benign" "" "0000555859" "0" "50" "15" "89392883" "89392883" "subst" "2.45718E-5" "01804" "ACAN_000103" "g.89392883C>T" "" "" "" "ACAN(NM_001135.3):c.1947C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849652C>T" "" "VUS" "" "0000555860" "0" "30" "15" "89392904" "89392904" "subst" "0.0028582" "01804" "ACAN_000104" "g.89392904C>T" "" "" "" "ACAN(NM_001135.3):c.1968C>T (p.(Tyr656=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849673C>T" "" "likely benign" "" "0000555861" "0" "30" "15" "89392907" "89392907" "subst" "6.14346E-5" "01804" "ACAN_000105" "g.89392907T>C" "" "" "" "ACAN(NM_001135.3):c.1971T>C (p.(Pro657=)), ACAN(NM_013227.3):c.1971T>C (p.P657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849676T>C" "" "likely benign" "" "0000555862" "0" "50" "15" "89392909" "89392909" "subst" "6.14311E-5" "01804" "ACAN_000057" "g.89392909A>G" "" "" "" "ACAN(NM_001135.3):c.1973A>G (p.(Asn658Ser)), ACAN(NM_013227.3):c.1973A>G (p.N658S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849678A>G" "" "VUS" "" "0000555863" "0" "50" "15" "89392911" "89392911" "subst" "0.000303095" "01804" "ACAN_000106" "g.89392911C>G" "" "" "" "ACAN(NM_001135.3):c.1975C>G (p.(Gln659Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849680C>G" "" "VUS" "" "0000555864" "0" "50" "15" "89392914" "89392914" "subst" "8.19296E-6" "01804" "ACAN_000107" "g.89392914A>G" "" "" "" "ACAN(NM_001135.3):c.1978A>G (p.(Thr660Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849683A>G" "" "VUS" "" "0000555865" "0" "10" "15" "89392939" "89392939" "subst" "0.00293799" "01804" "ACAN_000108" "g.89392939G>A" "" "" "" "ACAN(NM_001135.3):c.2003G>A (p.(Arg668Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849708G>A" "" "benign" "" "0000555866" "0" "90" "15" "89392959" "89392959" "subst" "0" "02329" "ACAN_000109" "g.89392959C>T" "" "" "" "ACAN(NM_001135.3):c.2023C>T (p.(Arg675Ter)), ACAN(NM_013227.4):c.2023C>T (p.R675*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849728C>T" "" "pathogenic" "" "0000555867" "0" "30" "15" "89392970" "89392970" "subst" "0.0116462" "01804" "ACAN_000110" "g.89392970G>C" "" "" "" "ACAN(NM_001135.3):c.2026+8G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88849739G>C" "" "likely benign" "" "0000555868" "0" "30" "15" "89395035" "89395035" "subst" "0.000620319" "01804" "ACAN_000111" "g.89395035G>A" "" "" "" "ACAN(NM_001135.3):c.2037G>A (p.(Ala679=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88851804G>A" "" "likely benign" "" "0000555869" "0" "30" "15" "89395107" "89395107" "subst" "0" "01804" "ACAN_000112" "g.89395107C>T" "" "" "" "ACAN(NM_001135.3):c.2109C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88851876C>T" "" "likely benign" "" "0000555870" "0" "30" "15" "89395120" "89395120" "subst" "0.0014828" "01804" "ACAN_000113" "g.89395120G>A" "" "" "" "ACAN(NM_001135.3):c.2122G>A (p.(Gly708Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88851889G>A" "" "likely benign" "" "0000555871" "0" "50" "15" "89395201" "89395201" "subst" "0.000140017" "01943" "ACAN_000114" "g.89395201G>A" "" "" "" "ACAN(NM_001135.3):c.2203G>A (p.(Glu735Lys)), ACAN(NM_013227.3):c.2203G>A (p.E735K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88851970G>A" "" "VUS" "" "0000555872" "0" "30" "15" "89395245" "89395245" "subst" "0.00738596" "01804" "ACAN_000115" "g.89395245G>A" "" "" "" "ACAN(NM_001135.3):c.2247G>A (p.(Val749=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88852014G>A" "" "likely benign" "" "0000555873" "0" "30" "15" "89398206" "89398206" "subst" "0.00166739" "01804" "ACAN_000116" "g.89398206A>G" "" "" "" "ACAN(NM_001135.3):c.2390A>G (p.(Glu797Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88854975A>G" "" "likely benign" "" "0000555874" "0" "50" "15" "89398236" "89398236" "subst" "0" "01804" "ACAN_000117" "g.89398236C>G" "" "" "" "ACAN(NM_001135.3):c.2420C>G (p.(Pro807Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855005C>G" "" "VUS" "" "0000555875" "0" "30" "15" "89398266" "89398266" "subst" "0.000313321" "01804" "ACAN_000118" "g.89398266T>C" "" "" "" "ACAN(NM_001135.3):c.2450T>C (p.(Leu817Pro)), ACAN(NM_013227.3):c.2450T>C (p.L817P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855035T>C" "" "likely benign" "" "0000555877" "0" "30" "15" "89398357" "89398357" "subst" "0.00313619" "01943" "ACAN_000120" "g.89398357C>T" "" "" "" "ACAN(NM_001135.3):c.2541C>T (p.(Pro847=)), ACAN(NM_013227.3):c.2541C>T (p.P847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855126C>T" "" "likely benign" "" "0000555878" "0" "30" "15" "89398358" "89398358" "subst" "0.000194867" "01804" "ACAN_000121" "g.89398358G>A" "" "" "" "ACAN(NM_001135.3):c.2542G>A (p.(Val848Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855127G>A" "" "likely benign" "" "0000555879" "0" "90" "15" "89398586" "89398586" "subst" "0" "02327" "ACAN_000122" "g.89398586G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855355G>T" "" "pathogenic" "" "0000555880" "0" "50" "15" "89398593" "89398593" "subst" "0" "01804" "ACAN_000123" "g.89398593T>A" "" "" "" "ACAN(NM_001135.3):c.2777T>A (p.(Ile926Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855362T>A" "" "VUS" "" "0000555881" "0" "30" "15" "89398652" "89398652" "subst" "0" "01804" "ACAN_000124" "g.89398652G>A" "" "" "" "ACAN(NM_001135.3):c.2836G>A (p.(Gly946Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855421G>A" "" "likely benign" "" "0000555882" "0" "10" "15" "89398652" "89398708" "del" "0" "01804" "ACAN_000125" "g.89398652_89398708del" "" "" "" "ACAN(NM_001135.3):c.2836_2892del (p.(Gly946_Glu964del)), ACAN(NM_013227.4):c.2836_2892del (p.G946_E964del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855421_88855477del" "" "benign" "" "0000555883" "0" "30" "15" "89398653" "89398653" "subst" "0" "01804" "ACAN_000126" "g.89398653G>C" "" "" "" "ACAN(NM_001135.3):c.2837G>C (p.(Gly946Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855422G>C" "" "likely benign" "" "0000555885" "0" "30" "15" "89398712" "89398712" "subst" "1.21842E-5" "01804" "ACAN_000128" "g.89398712T>A" "" "" "" "ACAN(NM_001135.3):c.2896T>A (p.(Ser966Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855481T>A" "" "likely benign" "" "0000555886" "0" "30" "15" "89398738" "89398738" "subst" "0.000268791" "01804" "ACAN_000129" "g.89398738T>C" "" "" "" "ACAN(NM_001135.3):c.2922T>C (p.(Ser974=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855507T>C" "" "likely benign" "" "0000555887" "0" "30" "15" "89398825" "89398825" "subst" "0.00662837" "01804" "ACAN_000130" "g.89398825C>A" "" "" "" "ACAN(NM_001135.3):c.3009C>A (p.(Thr1003=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855594C>A" "" "likely benign" "" "0000555888" "0" "10" "15" "89398826" "89398826" "subst" "0" "01804" "ACAN_000131" "g.89398826A>G" "" "" "" "ACAN(NM_001135.3):c.3010A>G (p.(Thr1004Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855595A>G" "" "benign" "" "0000555889" "0" "30" "15" "89398831" "89398831" "subst" "1.835E-5" "01943" "ACAN_000132" "g.89398831C>T" "" "" "" "ACAN(NM_001135.3):c.3015C>T (p.(Ala1005=)), ACAN(NM_013227.3):c.3015C>T (p.A1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855600C>T" "" "likely benign" "" "0000555891" "0" "10" "15" "89399110" "89399110" "subst" "0.407442" "01804" "ACAN_000134" "g.89399110C>T" "" "" "" "ACAN(NM_001135.3):c.3294C>T (p.(=)), ACAN(NM_013227.4):c.3294C>T (p.T1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855879C>T" "" "benign" "" "0000555892" "0" "10" "15" "89399110" "89399110" "subst" "0.407442" "02325" "ACAN_000134" "g.89399110C>T" "" "" "" "ACAN(NM_001135.3):c.3294C>T (p.(=)), ACAN(NM_013227.4):c.3294C>T (p.T1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88855879C>T" "" "benign" "" "0000555893" "0" "50" "15" "89399909" "89399909" "subst" "0" "01804" "ACAN_000135" "g.89399909G>A" "" "" "" "ACAN(NM_001135.3):c.4093G>A (p.(Ala1365Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856678G>A" "" "VUS" "" "0000555894" "0" "50" "15" "89399927" "89399927" "subst" "0" "01804" "ACAN_000136" "g.89399927G>C" "" "" "" "ACAN(NM_001135.3):c.4111G>C (p.(Asp1371His)), ACAN(NM_013227.4):c.4111G>C (p.D1371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856696G>C" "" "VUS" "" "0000555895" "0" "50" "15" "89399929" "89399929" "subst" "0" "01804" "ACAN_000137" "g.89399929C>G" "" "" "" "ACAN(NM_001135.3):c.4113C>G (p.(Asp1371Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856698C>G" "" "VUS" "" "0000555896" "0" "30" "15" "89399936" "89399936" "subst" "0.00136879" "01804" "ACAN_000026" "g.89399936G>A" "" "" "" "ACAN(NM_001135.3):c.4120G>A (p.(Gly1374Arg)), ACAN(NM_013227.3):c.4120G>A (p.G1374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856705G>A" "" "likely benign" "" "0000555898" "0" "30" "15" "89399984" "89399984" "subst" "1.64826E-5" "01804" "ACAN_000139" "g.89399984G>A" "" "" "" "ACAN(NM_001135.3):c.4168G>A (p.(Asp1390Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856753G>A" "" "likely benign" "" "0000555899" "0" "30" "15" "89399986" "89399986" "subst" "0.00308959" "01804" "ACAN_000140" "g.89399986C>G" "" "" "" "ACAN(NM_001135.3):c.4170delinsG (p.(Asp1390Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856755C>G" "" "likely benign" "" "0000555900" "0" "30" "15" "89399986" "89400042" "del" "0.0227128" "01804" "ACAN_000141" "g.89399986_89400042del" "" "" "" "ACAN(NM_001135.3):c.4170_4226del (p.(Asp1390_Glu1408del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856755_88856811del" "" "likely benign" "" "0000555901" "0" "10" "15" "89400023" "89400023" "subst" "0.0810136" "01804" "ACAN_000027" "g.89400023A>G" "" "" "" "ACAN(NM_001135.3):c.4207A>G (p.(Thr1403Ala)), ACAN(NM_013227.4):c.4207A>G (p.T1403A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856792A>G" "" "benign" "" "0000555902" "0" "30" "15" "89400023" "89400023" "subst" "0" "01943" "ACAN_000142" "g.89400023A>T" "" "" "" "ACAN(NM_001135.3):c.4207A>T (p.(Thr1403Ser)), ACAN(NM_013227.3):c.4207A>T (p.T1403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856792A>T" "" "likely benign" "" "0000555903" "0" "30" "15" "89400023" "89400023" "subst" "0" "01804" "ACAN_000142" "g.89400023A>T" "" "" "" "ACAN(NM_001135.3):c.4207A>T (p.(Thr1403Ser)), ACAN(NM_013227.3):c.4207A>T (p.T1403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856792A>T" "" "likely benign" "" "0000555904" "0" "50" "15" "89400043" "89400043" "subst" "0.0137324" "01804" "ACAN_000143" "g.89400043G>C" "" "" "" "ACAN(NM_001135.3):c.4227G>C (p.(Glu1409Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856812G>C" "" "VUS" "" "0000555905" "0" "30" "15" "89400080" "89400080" "subst" "0.00221467" "01804" "ACAN_000144" "g.89400080A>G" "" "" "" "ACAN(NM_001135.3):c.4264A>G (p.(Thr1422Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856849A>G" "" "likely benign" "" "0000555906" "0" "30" "15" "89400097" "89400097" "subst" "0.000167231" "01804" "ACAN_000145" "g.89400097T>G" "" "" "" "ACAN(NM_001135.3):c.4281T>G (p.(Asp1427Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856866T>G" "" "likely benign" "" "0000555907" "0" "10" "15" "89400106" "89400106" "subst" "0.00045567" "01804" "ACAN_000146" "g.89400106T>C" "" "" "" "ACAN(NM_001135.3):c.4290T>C (p.(Ser1430=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856875T>C" "" "benign" "" "0000555909" "0" "30" "15" "89400245" "89400245" "subst" "4.87365E-5" "01804" "ACAN_000148" "g.89400245C>G" "" "" "" "ACAN(NM_001135.3):c.4429C>G (p.(Leu1477Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857014C>G" "" "likely benign" "" "0000555911" "0" "30" "15" "89400341" "89400341" "subst" "0.00220157" "01804" "ACAN_000150" "g.89400341C>T" "" "" "" "ACAN(NM_001135.3):c.4525C>T (p.(Leu1509Phe)), ACAN(NM_013227.3):c.4525C>T (p.L1509F), ACAN(NM_013227.4):c.4525C>T (p.L1509F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857110C>T" "" "likely benign" "" "0000555912" "0" "30" "15" "89400362" "89400362" "subst" "4.0618E-6" "01804" "ACAN_000151" "g.89400362G>C" "" "" "" "ACAN(NM_001135.3):c.4546G>C (p.(Glu1516Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857131G>C" "" "likely benign" "" "0000555913" "0" "90" "15" "89400516" "89400516" "del" "0" "02327" "ACAN_000152" "g.89400516del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857285del" "" "pathogenic" "" "0000555914" "0" "10" "15" "89400680" "89400680" "subst" "0.0402039" "01804" "ACAN_000060" "g.89400680A>G" "" "" "" "ACAN(NM_001135.3):c.4864A>G (p.(Thr1622Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857449A>G" "" "benign" "" "0000555915" "0" "30" "15" "89401169" "89401169" "subst" "8.12434E-6" "01804" "ACAN_000153" "g.89401169C>G" "" "" "" "ACAN(NM_013227.3):c.5353C>G (p.(Leu1785Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857938C>G" "" "likely benign" "" "0000555916" "0" "30" "15" "89401184" "89401184" "subst" "0.00158824" "01943" "ACAN_000154" "g.89401184T>A" "" "" "" "ACAN(NM_001135.3):c.5368T>A (p.(Ser1790Thr)), ACAN(NM_013227.3):c.5368T>A (p.S1790T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857953T>A" "" "likely benign" "" "0000555917" "0" "30" "15" "89401184" "89401184" "subst" "0.00158824" "01804" "ACAN_000154" "g.89401184T>A" "" "" "" "ACAN(NM_001135.3):c.5368T>A (p.(Ser1790Thr)), ACAN(NM_013227.3):c.5368T>A (p.S1790T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857953T>A" "" "likely benign" "" "0000555918" "0" "30" "15" "89401198" "89401198" "subst" "0.000170599" "01804" "ACAN_000155" "g.89401198T>C" "" "" "" "ACAN(NM_001135.3):c.5382T>C (p.(Asp1794=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857967T>C" "" "likely benign" "" "0000555920" "0" "50" "15" "89401235" "89401235" "subst" "1.62476E-5" "01804" "ACAN_000061" "g.89401235G>A" "" "" "" "ACAN(NM_001135.3):c.5419G>A (p.(Gly1807Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858004G>A" "" "VUS" "" "0000555921" "0" "30" "15" "89401276" "89401276" "subst" "3.24955E-5" "01804" "ACAN_000157" "g.89401276G>A" "" "" "" "ACAN(NM_001135.3):c.5460G>A (p.(=)), ACAN(NM_013227.3):c.5460G>A (p.T1820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858045G>A" "" "likely benign" "" "0000555922" "0" "30" "15" "89401362" "89401362" "subst" "0.00687637" "01804" "ACAN_000158" "g.89401362G>T" "" "" "" "ACAN(NM_001135.3):c.5546G>T (p.(Gly1849Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858131G>T" "" "likely benign" "" "0000555923" "0" "30" "15" "89401379" "89401379" "subst" "0.00511572" "01804" "ACAN_000159" "g.89401379C>T" "" "" "" "ACAN(NM_001135.3):c.5563C>T (p.(Leu1855Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858148C>T" "" "likely benign" "" "0000555924" "0" "50" "15" "89401383" "89401383" "subst" "0.00126378" "01804" "ACAN_000160" "g.89401383G>A" "" "" "" "ACAN(NM_001135.3):c.5567G>A (p.(Ser1856Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858152G>A" "" "VUS" "" "0000555925" "0" "10" "15" "89401615" "89401615" "subst" "0.636765" "02325" "ACAN_000161" "g.89401615T>G" "" "" "" "ACAN(NM_013227.4):c.5799T>G (p.T1933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858384T>G" "" "benign" "" "0000555926" "0" "30" "15" "89401616" "89401616" "subst" "0.0150866" "01804" "ACAN_000062" "g.89401616G>C" "" "" "" "ACAN(NM_001135.3):c.5800G>C (p.(Val1934Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858385G>C" "" "likely benign" "" "0000555927" "0" "30" "15" "89401783" "89401783" "subst" "0.000836963" "01804" "ACAN_000162" "g.89401783C>T" "" "" "" "ACAN(NM_001135.3):c.5967C>T (p.(Ser1989=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858552C>T" "" "likely benign" "" "0000555928" "0" "30" "15" "89401814" "89401814" "subst" "0.00694817" "01804" "ACAN_000163" "g.89401814G>A" "" "" "" "ACAN(NM_001135.3):c.5998G>A (p.(Gly2000Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858583G>A" "" "likely benign" "" "0000555929" "0" "30" "15" "89401825" "89401825" "subst" "0.00804525" "01804" "ACAN_000164" "g.89401825T>C" "" "" "" "ACAN(NM_001135.3):c.6009T>C (p.(Tyr2003=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858594T>C" "" "likely benign" "" "0000555930" "0" "10" "15" "89401825" "89401825" "subst" "0.00804525" "02327" "ACAN_000164" "g.89401825T>C" "" "" "" "ACAN(NM_001135.3):c.6009T>C (p.(Tyr2003=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858594T>C" "" "benign" "" "0000555931" "0" "50" "15" "89401929" "89401929" "subst" "8.12473E-6" "01804" "ACAN_000165" "g.89401929C>T" "" "" "" "ACAN(NM_001135.3):c.6113C>T (p.(Thr2038Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858698C>T" "" "VUS" "" "0000555932" "0" "50" "15" "89401929" "89401929" "subst" "8.12473E-6" "02327" "ACAN_000165" "g.89401929C>T" "" "" "" "ACAN(NM_001135.3):c.6113C>T (p.(Thr2038Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858698C>T" "" "VUS" "" "0000555933" "0" "50" "15" "89401958" "89401958" "subst" "0.000134067" "01804" "ACAN_000166" "g.89401958C>G" "" "" "" "ACAN(NM_001135.3):c.6142C>G (p.(Pro2048Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858727C>G" "" "VUS" "" "0000555934" "0" "30" "15" "89401989" "89401989" "subst" "0.0069077" "01804" "ACAN_000167" "g.89401989C>T" "" "" "" "ACAN(NM_001135.3):c.6173C>T (p.(Pro2058Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858758C>T" "" "likely benign" "" "0000555935" "0" "30" "15" "89402095" "89402095" "subst" "8.14943E-6" "01804" "ACAN_000168" "g.89402095A>G" "" "" "" "ACAN(NM_001135.3):c.6279A>G (p.(Val2093=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858864A>G" "" "likely benign" "" "0000555936" "0" "10" "15" "89402176" "89402176" "subst" "0.00658163" "01804" "ACAN_000169" "g.89402176C>G" "" "" "" "ACAN(NM_001135.3):c.6360C>G (p.(Ser2120Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858945C>G" "" "benign" "" "0000555937" "0" "30" "15" "89402227" "89402227" "subst" "0.00259246" "01804" "ACAN_000170" "g.89402227C>T" "" "" "" "ACAN(NM_001135.3):c.6411C>T (p.(His2137=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858996C>T" "" "likely benign" "" "0000555938" "0" "30" "15" "89402228" "89402228" "subst" "0.000195065" "01804" "ACAN_000171" "g.89402228G>A" "" "" "" "ACAN(NM_001135.3):c.6412G>A (p.(Glu2138Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858997G>A" "" "likely benign" "" "0000555939" "0" "50" "15" "89402240" "89402240" "subst" "0.000373847" "01804" "ACAN_000172" "g.89402240G>A" "" "" "" "ACAN(NM_001135.3):c.6424G>A (p.(Glu2142Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859009G>A" "" "VUS" "" "0000555940" "0" "30" "15" "89402266" "89402266" "subst" "5.6881E-5" "01804" "ACAN_000173" "g.89402266C>T" "" "" "" "ACAN(NM_001135.3):c.6450C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859035C>T" "" "likely benign" "" "0000555941" "0" "10" "15" "89402322" "89402322" "subst" "0.00223521" "01804" "ACAN_000174" "g.89402322G>A" "" "" "" "ACAN(NM_001135.3):c.6506G>A (p.(Gly2169Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859091G>A" "" "benign" "" "0000555942" "0" "30" "15" "89402346" "89402346" "subst" "0.000329145" "01804" "ACAN_000175" "g.89402346T>C" "" "" "" "ACAN(NM_001135.3):c.6530T>C (p.(Val2177Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859115T>C" "" "likely benign" "" "0000555943" "0" "30" "15" "89402386" "89402386" "subst" "1.62579E-5" "01804" "ACAN_000176" "g.89402386G>T" "" "" "" "ACAN(NM_001135.3):c.6570G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859155G>T" "" "likely benign" "" "0000555944" "0" "30" "15" "89402387" "89402387" "subst" "6.5028E-5" "01804" "ACAN_000177" "g.89402387G>T" "" "" "" "ACAN(NM_001135.3):c.6571G>T (p.(Ala2191Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859156G>T" "" "likely benign" "" "0000555945" "0" "30" "15" "89402393" "89402393" "subst" "1.62569E-5" "02327" "ACAN_000178" "g.89402393G>A" "" "" "" "ACAN(NM_001135.3):c.6577G>A (p.(Gly2193Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859162G>A" "" "likely benign" "" "0000555946" "0" "30" "15" "89403562" "89403562" "subst" "5.85402E-5" "01804" "ACAN_000179" "g.89403562G>A" "" "" "" "ACAN(NM_013227.3):c.6838G>A (p.(Ala2280Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88860331G>A" "" "likely benign" "" "0000555947" "0" "30" "15" "89403688" "89403688" "subst" "0.000190718" "01804" "ACAN_000180" "g.89403688C>T" "" "" "" "ACAN(NM_013227.3):c.6946+18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88860457C>T" "" "likely benign" "" "0000555948" "0" "50" "15" "89414636" "89414636" "subst" "0" "02327" "ACAN_000181" "g.89414636T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871405T>C" "" "VUS" "" "0000555949" "0" "30" "15" "89414644" "89414644" "subst" "0.000850679" "01804" "ACAN_000182" "g.89414644G>A" "" "" "" "ACAN(NM_001135.3):c.6864G>A (p.(Lys2288=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871413G>A" "" "likely benign" "" "0000555950" "0" "90" "15" "89414648" "89414648" "subst" "0" "01804" "ACAN_000183" "g.89414648C>T" "" "" "" "ACAN(NM_013227.3):c.6982C>T (p.(Gln2328Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871417C>T" "" "pathogenic" "" "0000555951" "0" "50" "15" "89414675" "89414675" "subst" "9.35279E-5" "01804" "ACAN_000184" "g.89414675G>C" "" "" "" "ACAN(NM_001135.3):c.6895G>C (p.(Asp2299His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871444G>C" "" "VUS" "" "0000555952" "0" "30" "15" "89414678" "89414678" "subst" "0" "01804" "ACAN_000185" "g.89414678C>T" "" "" "" "ACAN(NM_013227.3):c.7012C>T (p.(Arg2338Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871447C>T" "" "likely benign" "" "0000555953" "0" "30" "15" "89414680" "89414680" "subst" "0.00165904" "01804" "ACAN_000186" "g.89414680C>T" "" "" "" "ACAN(NM_001135.3):c.6900C>T (p.(Arg2300=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871449C>T" "" "likely benign" "" "0000555954" "0" "30" "15" "89414706" "89414706" "subst" "8.54937E-5" "01804" "ACAN_000187" "g.89414706G>A" "" "" "" "ACAN(NM_001135.3):c.6926G>A (p.(Arg2309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871475G>A" "" "likely benign" "" "0000555955" "0" "50" "15" "89414749" "89414749" "subst" "0" "01804" "ACAN_000188" "g.89414749C>A" "" "" "" "ACAN(NM_001135.3):c.6969C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871518C>A" "" "VUS" "" "0000555956" "0" "10" "15" "89414749" "89414749" "subst" "0.0119204" "01804" "ACAN_000063" "g.89414749C>T" "" "" "" "ACAN(NM_001135.3):c.6969C>T (p.(Pro2323=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871518C>T" "" "benign" "" "0000555957" "0" "30" "15" "89416189" "89416189" "subst" "7.31844E-5" "01804" "HAPLN3_000002" "g.89416189C>T" "" "" "" "ACAN(NM_001135.3):c.7152C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88872958C>T" "" "likely benign" "" "0000555958" "0" "50" "15" "89416198" "89416198" "subst" "0" "02327" "HAPLN3_000003" "g.89416198C>T" "" "" "" "ACAN(NM_013227.3):c.7275C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88872967C>T" "" "VUS" "" "0000555959" "0" "30" "15" "89417080" "89417080" "subst" "0.00490212" "01804" "HAPLN3_000004" "g.89417080C>T" "" "" "" "ACAN(NM_013227.3):c.7341C>T (p.(Cys2447=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88873849C>T" "" "likely benign" "" "0000555960" "0" "50" "15" "89417133" "89417133" "subst" "0.000231638" "01804" "HAPLN3_000005" "g.89417133G>A" "" "" "" "ACAN(NM_013227.3):c.7394G>A (p.(Arg2465Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88873902G>A" "" "VUS" "" "0000555961" "0" "30" "15" "89417149" "89417149" "subst" "0.00255606" "01804" "ACAN_000065" "g.89417149C>T" "" "" "" "ACAN(NM_013227.3):c.7410C>T (p.(Ser2470=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88873918C>T" "" "likely benign" "" "0000555962" "0" "70" "15" "89417227" "89417227" "subst" "0" "01804" "HAPLN3_000006" "g.89417227G>A" "" "" "" "ACAN(NM_013227.3):c.7488G>A (p.(Trp2496Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88873996G>A" "" "likely pathogenic" "" "0000555963" "0" "30" "15" "89417255" "89417255" "subst" "6.98772E-5" "01804" "HAPLN3_000007" "g.89417255C>T" "" "" "" "ACAN(NM_013227.3):c.7516C>T (p.(Pro2506Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88874024C>T" "" "likely benign" "" "0000555964" "0" "50" "15" "89422320" "89422320" "subst" "0.000547484" "01804" "HAPLN3_000008" "g.89422320G>A" "" "" "" "HAPLN3(NM_178232.2):c.674C>T (p.(Pro225Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88879089G>A" "" "VUS" "" "0000555965" "0" "30" "15" "89422386" "89422386" "subst" "0.00263442" "01804" "HAPLN3_000009" "g.89422386C>T" "" "" "" "HAPLN3(NM_178232.2):c.608G>A (p.(Arg203Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88879155C>T" "" "likely benign" "" "0000592079" "21" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592093" "21" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592590" "0" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592591" "21" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592592" "21" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592593" "21" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592594" "21" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592595" "11" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000592596" "11" "90" "15" "89414673" "89414673" "dup" "0" "01864" "ACAN_000189" "g.89414673dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88871442dup" "" "pathogenic (dominant)" "" "0000615602" "0" "50" "15" "89382052" "89382052" "subst" "4.46748E-5" "02327" "ACAN_000070" "g.89382052C>T" "" "" "" "ACAN(NM_001135.3):c.229C>T (p.(Arg77Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88838821C>T" "" "VUS" "" "0000615603" "0" "70" "15" "89382278" "89382278" "subst" "0" "02327" "ACAN_000190" "g.89382278G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88839047G>A" "" "likely pathogenic" "" "0000615604" "0" "90" "15" "89390570" "89390570" "subst" "0" "01804" "ACAN_000191" "g.89390570C>A" "" "" "" "ACAN(NM_013227.3):c.1526C>A (p.(Ser509Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88847339C>A" "" "pathogenic" "" "0000615605" "0" "30" "15" "89399986" "89400042" "dup" "0.00224162" "01804" "ACAN_000192" "g.89399986_89400042dup" "" "" "" "ACAN(NM_001135.3):c.4170_4226dup (p.(Asp1390_Glu1408dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88856755_88856811dup" "" "likely benign" "" "0000615606" "0" "50" "15" "89401533" "89401533" "subst" "0" "02327" "ACAN_000193" "g.89401533G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858302G>C" "" "VUS" "" "0000615607" "0" "50" "15" "89414625" "89414625" "subst" "0" "01804" "ACAN_000194" "g.89414625G>A" "" "" "" "ACAN(NM_013227.3):c.6959G>A (p.(Cys2320Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88871394G>A" "" "VUS" "" "0000615608" "0" "50" "15" "89416217" "89416217" "subst" "0" "02327" "HAPLN3_000010" "g.89416217T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88872986T>G" "" "VUS" "" "0000657687" "0" "30" "15" "89402441" "89402441" "subst" "2.43809E-5" "01943" "ACAN_000195" "g.89402441C>T" "" "" "" "ACAN(NM_001135.3):c.6625C>T (p.(Leu2209=)), ACAN(NM_013227.3):c.6625C>T (p.L2209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859210C>T" "" "likely benign" "" "0000680327" "0" "50" "15" "89391245" "89391245" "subst" "1.62477E-5" "02327" "ACAN_000014" "g.89391245T>C" "" "" "" "ACAN(NM_001135.3):c.1708T>C (p.(Tyr570His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680328" "0" "30" "15" "89392845" "89392845" "subst" "8.75233E-5" "01943" "ACAN_000196" "g.89392845G>A" "" "" "" "ACAN(NM_001135.3):c.1909G>A (p.(Val637Ile)), ACAN(NM_013227.3):c.1909G>A (p.V637I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680329" "0" "30" "15" "89401276" "89401276" "subst" "3.24955E-5" "01943" "ACAN_000157" "g.89401276G>A" "" "" "" "ACAN(NM_001135.3):c.5460G>A (p.(=)), ACAN(NM_013227.3):c.5460G>A (p.T1820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680330" "0" "30" "15" "89403688" "89403688" "subst" "0" "01804" "ACAN_000197" "g.89403688C>A" "" "" "" "ACAN(NM_013227.3):c.6946+18C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691894" "0" "50" "15" "89384991" "89384991" "subst" "2.84306E-5" "02327" "ACAN_000198" "g.89384991G>A" "" "" "" "ACAN(NM_001135.3):c.650G>A (p.(Arg217Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691895" "0" "30" "15" "89402437" "89402437" "subst" "4.06379E-5" "01943" "ACAN_000199" "g.89402437G>A" "" "" "" "ACAN(NM_013227.3):c.6621G>A (p.S2207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704147" "0" "90" "15" "89402350" "89402350" "del" "0" "01807" "ACAN_000200" "g.89402350del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.88859119del" "" "pathogenic" "" "0000725349" "0" "70" "15" "89383335" "89383335" "subst" "0" "02327" "ACAN_000201" "g.89383335G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725350" "0" "50" "15" "89386733" "89386733" "subst" "4.14731E-6" "02327" "ACAN_000202" "g.89386733T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725351" "0" "30" "15" "89400221" "89400221" "subst" "4.06154E-6" "01943" "ACAN_000203" "g.89400221G>C" "" "" "" "ACAN(NM_013227.3):c.4405G>C (p.G1469R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725352" "0" "30" "15" "89402612" "89402612" "subst" "0" "01804" "ACAN_000204" "g.89402612C>T" "" "" "" "ACAN(NM_001135.3):c.6796C>T (p.(Pro2266Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725353" "0" "50" "15" "89414625" "89414625" "subst" "0" "02327" "ACAN_000194" "g.89414625G>A" "" "" "" "ACAN(NM_013227.3):c.6959G>A (p.(Cys2320Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725354" "0" "50" "15" "89417692" "89417692" "subst" "0" "02327" "HAPLN3_000011" "g.89417692C>T" "" "" "" "ACAN(NM_001135.3):c.7276C>T (p.(Arg2426Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787988" "21" "90" "15" "89388774" "89388774" "dup" "0" "03894" "ACAN_000205" "g.89388774dup" "" "" "" "1090dupG" "" "Germline" "yes" "" "0" "" "" "g.88845543dup" "" "pathogenic (dominant)" "" "0000787989" "11" "90" "15" "89415296" "89415296" "subst" "0" "03894" "ACAN_000207" "g.89415296T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000787990" "3" "70" "15" "89398763" "89398763" "subst" "0.000130262" "03894" "ACAN_000206" "g.89398763G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000806982" "0" "50" "15" "89385048" "89385048" "subst" "4.06105E-6" "01804" "ACAN_000208" "g.89385048G>A" "" "" "" "ACAN(NM_013227.3):c.707G>A (p.(Arg236Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806983" "0" "50" "15" "89390551" "89390551" "subst" "2.12031E-5" "01943" "ACAN_000095" "g.89390551A>T" "" "" "" "ACAN(NM_001135.3):c.1507A>T (p.(Thr503Ser)), ACAN(NM_013227.3):c.1507A>T (p.T503S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806984" "0" "50" "15" "89392833" "89392833" "subst" "1.69329E-5" "01804" "ACAN_000209" "g.89392833C>T" "" "" "" "ACAN(NM_001135.3):c.1897C>T (p.(Arg633Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806985" "0" "50" "15" "89392907" "89392907" "subst" "6.14346E-5" "01943" "ACAN_000105" "g.89392907T>C" "" "" "" "ACAN(NM_001135.3):c.1971T>C (p.(Pro657=)), ACAN(NM_013227.3):c.1971T>C (p.P657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806986" "0" "50" "15" "89392909" "89392909" "subst" "6.14311E-5" "01943" "ACAN_000057" "g.89392909A>G" "" "" "" "ACAN(NM_001135.3):c.1973A>G (p.(Asn658Ser)), ACAN(NM_013227.3):c.1973A>G (p.N658S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806987" "0" "90" "15" "89398698" "89398701" "del" "0" "02325" "ACAN_000210" "g.89398698_89398701del" "" "" "" "ACAN(NM_013227.4):c.2882_2885delAAGT (p.E961Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806988" "0" "50" "15" "89398805" "89398805" "subst" "2.51225E-5" "02325" "ACAN_000211" "g.89398805T>G" "" "" "" "ACAN(NM_013227.4):c.2989T>G (p.S997A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806989" "0" "30" "15" "89400416" "89400416" "subst" "1.62608E-5" "01804" "ACAN_000212" "g.89400416G>C" "" "" "" "ACAN(NM_001135.3):c.4600G>C (p.(Val1534Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806990" "0" "90" "15" "89401355" "89401355" "subst" "0" "02327" "ACAN_000213" "g.89401355G>T" "" "" "" "ACAN(NM_013227.3):c.5539G>T (p.(Glu1847*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806991" "0" "70" "15" "89402197" "89402197" "del" "0" "02327" "ACAN_000214" "g.89402197del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854226" "0" "90" "15" "89386814" "89386814" "dup" "0" "02327" "ACAN_000240" "g.89386814dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854227" "0" "30" "15" "89398266" "89398266" "subst" "0.000313321" "01943" "ACAN_000118" "g.89398266T>C" "" "" "" "ACAN(NM_001135.3):c.2450T>C (p.(Leu817Pro)), ACAN(NM_013227.3):c.2450T>C (p.L817P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854228" "0" "50" "15" "89400341" "89400341" "subst" "0.00220157" "01943" "ACAN_000150" "g.89400341C>T" "" "" "" "ACAN(NM_001135.3):c.4525C>T (p.(Leu1509Phe)), ACAN(NM_013227.3):c.4525C>T (p.L1509F), ACAN(NM_013227.4):c.4525C>T (p.L1509F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854229" "0" "30" "15" "89401747" "89401747" "subst" "0.000178785" "01943" "ACAN_000318" "g.89401747G>T" "" "" "" "ACAN(NM_001135.3):c.5931G>T (p.(Glu1977Asp)), ACAN(NM_013227.3):c.5931G>T (p.E1977D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863994" "0" "50" "15" "89379462" "89379462" "subst" "4.06379E-5" "02327" "ACAN_000215" "g.89379462G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863995" "0" "30" "15" "89379520" "89379520" "subst" "2.45284E-5" "01804" "ACAN_000216" "g.89379520C>T" "" "" "" "ACAN(NM_001135.3):c.70+13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863996" "0" "30" "15" "89381898" "89381898" "subst" "0" "01804" "ACAN_000217" "g.89381898T>A" "" "" "" "ACAN(NM_001135.3):c.75T>A (p.(His25Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863997" "0" "50" "15" "89381953" "89381953" "subst" "0" "01804" "ACAN_000218" "g.89381953G>A" "" "" "" "ACAN(NM_013227.3):c.130G>A (p.(Gly44Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863998" "0" "50" "15" "89382008" "89382008" "subst" "0.000454941" "01804" "ACAN_000219" "g.89382008C>A" "" "" "" "ACAN(NM_001135.3):c.185C>A (p.(Thr62Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863999" "0" "30" "15" "89382027" "89382027" "subst" "0.00751354" "01804" "ACAN_000043" "g.89382027A>C" "" "" "" "ACAN(NM_001135.3):c.204A>C (p.(Pro68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864000" "0" "50" "15" "89382028" "89382028" "subst" "0" "01804" "ACAN_000220" "g.89382028C>A" "" "" "" "ACAN(NM_001135.3):c.205C>A (p.(Leu69Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864001" "0" "50" "15" "89382103" "89382103" "subst" "5.68708E-5" "01804" "ACAN_000221" "g.89382103G>A" "" "" "" "ACAN(NM_001135.3):c.280G>A (p.(Val94Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864002" "0" "50" "15" "89382153" "89382153" "subst" "0.000138193" "01804" "ACAN_000222" "g.89382153G>A" "" "" "" "ACAN(NM_001135.3):c.330G>A (p.(Pro110=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864003" "0" "50" "15" "89382223" "89382223" "subst" "3.69844E-5" "01804" "ACAN_000073" "g.89382223G>A" "" "" "" "ACAN(NM_001135.3):c.400G>A (p.(Glu134Lys)), ACAN(NM_013227.3):c.400G>A (p.E134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864004" "0" "30" "15" "89382267" "89382267" "subst" "0" "01804" "ACAN_000223" "g.89382267C>A" "" "" "" "ACAN(NM_001135.3):c.444C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864005" "0" "30" "15" "89382267" "89382267" "subst" "9.75056E-5" "01804" "ACAN_000224" "g.89382267C>T" "" "" "" "ACAN(NM_001135.3):c.444C>T (p.(Val148=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864006" "0" "50" "15" "89383276" "89383276" "subst" "0" "01804" "ACAN_000225" "g.89383276G>A" "" "" "" "ACAN(NM_001135.3):c.488G>A (p.(Arg163His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864007" "0" "30" "15" "89383280" "89383280" "subst" "7.94695E-5" "01804" "ACAN_000226" "g.89383280C>T" "" "" "" "ACAN(NM_001135.3):c.492C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864008" "0" "30" "15" "89383307" "89383307" "subst" "0.000204286" "01804" "ACAN_000227" "g.89383307G>T" "" "" "" "ACAN(NM_001135.3):c.519G>T (p.(Arg173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864009" "0" "50" "15" "89383327" "89383327" "subst" "0" "01804" "ACAN_000228" "g.89383327C>T" "" "" "" "ACAN(NM_001135.3):c.539C>T (p.(Ala180Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864010" "0" "30" "15" "89383340" "89383340" "subst" "0.00126769" "01804" "ACAN_000229" "g.89383340G>A" "" "" "" "ACAN(NM_001135.3):c.552G>A (p.(Thr184=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864011" "0" "30" "15" "89383370" "89383370" "subst" "0.00182201" "01804" "ACAN_000046" "g.89383370C>T" "" "" "" "ACAN(NM_001135.3):c.582C>T (p.(Asp194=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864012" "0" "50" "15" "89384975" "89384975" "subst" "4.06342E-6" "02327" "ACAN_000230" "g.89384975C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864013" "0" "50" "15" "89384991" "89384991" "subst" "2.84306E-5" "01804" "ACAN_000198" "g.89384991G>A" "" "" "" "ACAN(NM_001135.3):c.650G>A (p.(Arg217Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864014" "0" "30" "15" "89385044" "89385044" "subst" "0.000125883" "01804" "ACAN_000231" "g.89385044A>T" "" "" "" "ACAN(NM_001135.3):c.703A>T (p.(Ile235Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864015" "0" "30" "15" "89385085" "89385085" "subst" "0.00125527" "01804" "ACAN_000232" "g.89385085C>T" "" "" "" "ACAN(NM_001135.3):c.744C>T (p.(Ala248=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864016" "0" "30" "15" "89385115" "89385115" "subst" "0.000574137" "01804" "ACAN_000233" "g.89385115A>G" "" "" "" "ACAN(NM_001135.3):c.757+17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864017" "0" "30" "15" "89386648" "89386648" "subst" "0.000272908" "01804" "ACAN_000234" "g.89386648C>T" "" "" "" "ACAN(NM_001135.3):c.820C>T (p.(Arg274Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864018" "0" "30" "15" "89386653" "89386653" "subst" "8.2672E-6" "01804" "ACAN_000235" "g.89386653G>A" "" "" "" "ACAN(NM_001135.3):c.825G>A (p.(Arg275=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864019" "0" "30" "15" "89386695" "89386695" "subst" "0" "01804" "ACAN_000236" "g.89386695C>T" "" "" "" "ACAN(NM_001135.3):c.867C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864020" "0" "50" "15" "89386726" "89386726" "subst" "3.32265E-5" "01804" "ACAN_000237" "g.89386726G>A" "" "" "" "ACAN(NM_001135.3):c.898G>A (p.(Gly300Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864021" "0" "50" "15" "89386771" "89386771" "subst" "1.23566E-5" "01804" "ACAN_000238" "g.89386771C>T" "" "" "" "ACAN(NM_001135.3):c.943C>T (p.(Arg315Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864022" "0" "50" "15" "89386810" "89386810" "subst" "0" "01804" "ACAN_000239" "g.89386810G>A" "" "" "" "ACAN(NM_001135.3):c.982G>A (p.(Val328Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864023" "0" "30" "15" "89386833" "89386833" "subst" "1.25737E-5" "01804" "ACAN_000241" "g.89386833G>A" "" "" "" "ACAN(NM_001135.3):c.1005G>A (p.(Thr335=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864024" "0" "50" "15" "89386881" "89386881" "subst" "0" "01804" "ACAN_000242" "g.89386881T>C" "" "" "" "ACAN(NM_001135.3):c.1051+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864025" "0" "50" "15" "89386898" "89386898" "subst" "0" "01804" "ACAN_000243" "g.89386898T>G" "" "" "" "ACAN(NM_001135.3):c.1051+19T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864026" "0" "30" "15" "89388797" "89388797" "subst" "0.000471694" "01804" "ACAN_000244" "g.89388797C>G" "" "" "" "ACAN(NM_001135.3):c.1113C>G (p.(Thr371=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864027" "0" "30" "15" "89388798" "89388798" "subst" "3.65928E-5" "01804" "ACAN_000245" "g.89388798G>A" "" "" "" "ACAN(NM_013227.3):c.1114G>A (p.(Val372Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864028" "0" "30" "15" "89388872" "89388872" "subst" "0.000732213" "01804" "ACAN_000246" "g.89388872C>T" "" "" "" "ACAN(NM_001135.3):c.1188C>T (p.(Ser396=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864029" "0" "30" "15" "89388919" "89388919" "subst" "8.15268E-6" "01804" "ACAN_000247" "g.89388919T>A" "" "" "" "ACAN(NM_001135.3):c.1235T>A (p.(Leu412Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864030" "0" "30" "15" "89388971" "89388971" "subst" "4.09527E-5" "01804" "ACAN_000248" "g.89388971C>T" "" "" "" "ACAN(NM_001135.3):c.1287C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864031" "0" "30" "15" "89388979" "89388979" "subst" "0" "01804" "ACAN_000249" "g.89388979T>C" "" "" "" "ACAN(NM_001135.3):c.1295T>C (p.(Val432Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864032" "0" "30" "15" "89389045" "89389045" "subst" "0.000102101" "01804" "ACAN_000250" "g.89389045C>T" "" "" "" "ACAN(NM_001135.3):c.1361C>T (p.(Thr454Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864033" "0" "50" "15" "89389099" "89389099" "subst" "0" "01804" "ACAN_000051" "g.89389099C>T" "" "" "" "ACAN(NM_001135.3):c.1415C>T (p.(Pro472Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864034" "0" "30" "15" "89390454" "89390454" "subst" "0.000105166" "01804" "ACAN_000251" "g.89390454G>A" "" "" "" "ACAN(NM_001135.3):c.1430-20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864035" "0" "30" "15" "89390476" "89390476" "subst" "0" "01804" "ACAN_000252" "g.89390476G>T" "" "" "" "ACAN(NM_001135.3):c.1432G>T (p.(Val478Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864036" "0" "50" "15" "89390495" "89390495" "subst" "0" "01804" "ACAN_000253" "g.89390495C>T" "" "" "" "ACAN(NM_001135.3):c.1451C>T (p.(Pro484Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864037" "0" "30" "15" "89390500" "89390500" "subst" "0" "01804" "ACAN_000254" "g.89390500C>T" "" "" "" "ACAN(NM_001135.3):c.1456C>T (p.(Pro486Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864038" "0" "50" "15" "89390507" "89390507" "subst" "0" "01804" "ACAN_000255" "g.89390507G>A" "" "" "" "ACAN(NM_001135.3):c.1463G>A (p.(Arg488His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864039" "0" "50" "15" "89390549" "89390549" "subst" "0" "01804" "ACAN_000256" "g.89390549G>C" "" "" "" "ACAN(NM_001135.3):c.1505G>C (p.(Arg502Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864040" "0" "50" "15" "89390551" "89390551" "subst" "2.12031E-5" "01804" "ACAN_000095" "g.89390551A>T" "" "" "" "ACAN(NM_001135.3):c.1507A>T (p.(Thr503Ser)), ACAN(NM_013227.3):c.1507A>T (p.T503S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864041" "0" "50" "15" "89390570" "89390570" "subst" "2.02782E-5" "01804" "ACAN_000257" "g.89390570C>T" "" "" "" "ACAN(NM_001135.3):c.1526C>T (p.(Ser509Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864042" "0" "50" "15" "89390606" "89390606" "subst" "0" "01804" "ACAN_000258" "g.89390606A>G" "" "" "" "ACAN(NM_001135.3):c.1562A>G (p.(Tyr521Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864043" "0" "50" "15" "89390608" "89390608" "subst" "0" "01804" "ACAN_000259" "g.89390608G>A" "" "" "" "ACAN(NM_001135.3):c.1564G>A (p.(Glu522Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864044" "0" "30" "15" "89390619" "89390619" "subst" "0.000472504" "01804" "ACAN_000052" "g.89390619C>T" "" "" "" "ACAN(NM_001135.3):c.1575C>T (p.(Asp525=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864045" "0" "30" "15" "89390622" "89390622" "subst" "0" "01804" "ACAN_000260" "g.89390622C>T" "" "" "" "ACAN(NM_001135.3):c.1578C>T (p.(Ala526=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864046" "0" "50" "15" "89390644" "89390644" "subst" "0" "01804" "ACAN_000261" "g.89390644G>A" "" "" "" "ACAN(NM_001135.3):c.1600G>A (p.(Val534Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864047" "0" "50" "15" "89391179" "89391179" "subst" "0" "01804" "ACAN_000262" "g.89391179G>A" "" "" "" "ACAN(NM_013227.3):c.1642G>A (p.(Asp548Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864048" "0" "30" "15" "89392852" "89392852" "subst" "0" "01804" "ACAN_000263" "g.89392852C>T" "" "" "" "ACAN(NM_001135.3):c.1916C>T (p.(Pro639Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864049" "0" "30" "15" "89392865" "89392865" "subst" "0.000911393" "01804" "ACAN_000264" "g.89392865C>T" "" "" "" "ACAN(NM_001135.3):c.1929C>T (p.(Cys643=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864050" "0" "30" "15" "89392892" "89392892" "subst" "8.18961E-6" "01804" "ACAN_000265" "g.89392892G>A" "" "" "" "ACAN(NM_001135.3):c.1956G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864051" "0" "90" "15" "89392959" "89392959" "subst" "0" "01804" "ACAN_000109" "g.89392959C>T" "" "" "" "ACAN(NM_001135.3):c.2023C>T (p.(Arg675Ter)), ACAN(NM_013227.4):c.2023C>T (p.R675*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864052" "0" "30" "15" "89392980" "89392980" "subst" "4.18813E-5" "01804" "ACAN_000266" "g.89392980G>A" "" "" "" "ACAN(NM_001135.3):c.2026+18G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864053" "0" "70" "15" "89395216" "89395216" "subst" "4.154E-5" "01804" "ACAN_000267" "g.89395216A>T" "" "" "" "ACAN(NM_001135.3):c.2218A>T (p.(Thr740Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864054" "0" "30" "15" "89398112" "89398112" "subst" "0" "01804" "ACAN_000268" "g.89398112G>A" "" "" "" "ACAN(NM_001135.3):c.2296G>A (p.(Ala766Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864055" "0" "50" "15" "89398232" "89398232" "subst" "0" "01804" "ACAN_000269" "g.89398232T>C" "" "" "" "ACAN(NM_001135.3):c.2416T>C (p.(Phe806Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864056" "0" "50" "15" "89398255" "89398255" "subst" "1.83175E-5" "01804" "ACAN_000270" "g.89398255C>A" "" "" "" "ACAN(NM_001135.3):c.2439C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864057" "0" "30" "15" "89398339" "89398339" "subst" "0.000224679" "01804" "ACAN_000271" "g.89398339G>A" "" "" "" "ACAN(NM_001135.3):c.2523G>A (p.(Pro841=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864058" "0" "30" "15" "89398357" "89398357" "subst" "0.00313619" "01804" "ACAN_000120" "g.89398357C>T" "" "" "" "ACAN(NM_001135.3):c.2541C>T (p.(Pro847=)), ACAN(NM_013227.3):c.2541C>T (p.P847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864059" "0" "30" "15" "89398364" "89398364" "subst" "0.000845221" "01804" "ACAN_000272" "g.89398364A>G" "" "" "" "ACAN(NM_001135.3):c.2548A>G (p.(Ser850Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864060" "0" "50" "15" "89398388" "89398388" "subst" "0" "01804" "ACAN_000273" "g.89398388G>A" "" "" "" "ACAN(NM_001135.3):c.2572G>A (p.(Gly858Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864061" "0" "70" "15" "89398454" "89398454" "del" "0" "01804" "ACAN_000274" "g.89398454del" "" "" "" "ACAN(NM_001135.3):c.2638del (p.(Asp881Thrfs*64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864062" "0" "30" "15" "89398525" "89398525" "subst" "0.000146418" "01804" "ACAN_000275" "g.89398525T>A" "" "" "" "ACAN(NM_001135.3):c.2709T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864063" "0" "30" "15" "89398543" "89398543" "subst" "4.06527E-6" "01804" "ACAN_000276" "g.89398543C>T" "" "" "" "ACAN(NM_001135.3):c.2727C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864064" "0" "50" "15" "89398602" "89398602" "subst" "0" "01804" "ACAN_000277" "g.89398602C>T" "" "" "" "ACAN(NM_001135.3):c.2786C>T (p.(Pro929Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864065" "0" "30" "15" "89398658" "89398658" "subst" "1.21846E-5" "01804" "ACAN_000278" "g.89398658G>T" "" "" "" "ACAN(NM_001135.3):c.2842G>T (p.(Ala948Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864066" "0" "30" "15" "89398659" "89398659" "subst" "0.000495492" "01804" "ACAN_000279" "g.89398659C>T" "" "" "" "ACAN(NM_001135.3):c.2843C>T (p.(Ala948Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864067" "0" "50" "15" "89398768" "89398768" "subst" "0" "01804" "ACAN_000280" "g.89398768C>T" "" "" "" "ACAN(NM_001135.3):c.2952C>T (p.(Thr984=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864068" "0" "30" "15" "89398769" "89398769" "subst" "0" "01804" "ACAN_000023" "g.89398769A>G" "" "" "" "ACAN(NM_001135.3):c.2953A>G (p.(Thr985Ala)), ACAN(NM_013227.3):c.2953A>G (p.T985A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864069" "0" "50" "15" "89398795" "89398795" "subst" "0" "01804" "ACAN_000281" "g.89398795C>A" "" "" "" "ACAN(NM_001135.3):c.2979C>A (p.(Ser993Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864070" "0" "50" "15" "89398813" "89398813" "subst" "0" "01804" "ACAN_000282" "g.89398813A>T" "" "" "" "ACAN(NM_001135.3):c.2997A>T (p.(Glu999Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864071" "0" "30" "15" "89398815" "89398815" "subst" "0" "01804" "ACAN_000283" "g.89398815T>C" "" "" "" "ACAN(NM_001135.3):c.2999T>C (p.(Val1000Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864072" "0" "50" "15" "89398819" "89398819" "subst" "0" "01804" "ACAN_000284" "g.89398819A>C" "" "" "" "ACAN(NM_001135.3):c.3003A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864073" "0" "50" "15" "89398824" "89398824" "subst" "0" "01804" "ACAN_000285" "g.89398824C>T" "" "" "" "ACAN(NM_001135.3):c.3008C>T (p.(Thr1003Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864074" "0" "50" "15" "89398826" "89398826" "subst" "0" "01804" "ACAN_000286" "g.89398826A>C" "" "" "" "ACAN(NM_001135.3):c.3010A>C (p.(Thr1004Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864075" "0" "50" "15" "89398839" "89398839" "subst" "0" "01804" "ACAN_000287" "g.89398839T>C" "" "" "" "ACAN(NM_001135.3):c.3023T>C (p.(Val1008Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864076" "0" "50" "15" "89398882" "89398882" "subst" "0.00451807" "01804" "ACAN_000288" "g.89398882C>T" "" "" "" "ACAN(NM_001135.3):c.3066C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864077" "0" "30" "15" "89398996" "89398996" "subst" "0.0145308" "01804" "ACAN_000289" "g.89398996C>T" "" "" "" "ACAN(NM_001135.3):c.3180C>T (p.(Thr1060=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864078" "0" "30" "15" "89399053" "89399053" "subst" "0.000657543" "01804" "ACAN_000290" "g.89399053C>T" "" "" "" "ACAN(NM_001135.3):c.3237C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864079" "0" "30" "15" "89399966" "89399966" "subst" "0.000730094" "01804" "ACAN_000291" "g.89399966G>A" "" "" "" "ACAN(NM_001135.3):c.4150G>A (p.(Ala1384Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864080" "0" "50" "15" "89400023" "89400193" "del" "0" "01804" "ACAN_000292" "g.89400023_89400193del" "" "" "" "ACAN(NM_001135.3):c.4207_4377del (p.(Thr1403_Thr1459del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864081" "0" "50" "15" "89400040" "89400040" "subst" "4.11889E-5" "01804" "ACAN_000028" "g.89400040G>T" "" "" "" "ACAN(NM_001135.3):c.4224G>T (p.(Glu1408Asp)), ACAN(NM_013227.3):c.4224G>T (p.E1408D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864082" "0" "30" "15" "89400040" "89400096" "del" "0.0010017" "01804" "ACAN_000293" "g.89400040_89400096del" "" "" "" "ACAN(NM_001135.3):c.4224_4280del (p.(Glu1408_Val1426del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864083" "0" "50" "15" "89400080" "89400193" "del" "0" "02325" "ACAN_000294" "g.89400080_89400193del" "" "" "" "ACAN(NM_013227.3):c.4264_4377del (p.(Thr1422_Thr1459del)), ACAN(NM_013227.4):c.4264_4377del (p.T1422_T1459del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864084" "0" "30" "15" "89400137" "89400137" "subst" "0" "01943" "ACAN_000295" "g.89400137A>G" "" "" "" "ACAN(NM_001135.3):c.4321A>G (p.(Thr1441Ala)), ACAN(NM_013227.3):c.4321A>G (p.T1441A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864085" "0" "30" "15" "89400137" "89400137" "subst" "0" "01804" "ACAN_000295" "g.89400137A>G" "" "" "" "ACAN(NM_001135.3):c.4321A>G (p.(Thr1441Ala)), ACAN(NM_013227.3):c.4321A>G (p.T1441A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864086" "0" "50" "15" "89400141" "89400145" "del" "0" "01804" "ACAN_000296" "g.89400141_89400145del" "" "" "" "ACAN(NM_001135.3):c.4325_4329del (p.(Ala1442GlyfsTer65))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864087" "0" "30" "15" "89400199" "89400199" "subst" "0" "01804" "ACAN_000297" "g.89400199C>T" "" "" "" "ACAN(NM_001135.3):c.4383C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864088" "0" "70" "15" "89400389" "89400389" "del" "0" "01804" "ACAN_000298" "g.89400389del" "" "" "" "ACAN(NM_001135.3):c.4573del (p.(Leu1525Serfs*11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864089" "0" "30" "15" "89400455" "89400455" "subst" "0.000178897" "01804" "ACAN_000299" "g.89400455G>A" "" "" "" "ACAN(NM_001135.3):c.4639G>A (p.(Gly1547Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864090" "0" "30" "15" "89400510" "89400530" "del" "0" "01804" "ACAN_000300" "g.89400510_89400530del" "" "" "" "ACAN(NM_001135.3):c.4694_4714del (p.(Asp1565_Ser1571del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864091" "0" "30" "15" "89400571" "89400571" "subst" "0.0138324" "01804" "ACAN_000301" "g.89400571C>T" "" "" "" "ACAN(NM_001135.3):c.4755C>T (p.(Asp1585=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864092" "0" "30" "15" "89400790" "89400790" "subst" "0" "01804" "ACAN_000302" "g.89400790T>C" "" "" "" "ACAN(NM_001135.3):c.4974T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864093" "0" "30" "15" "89400981" "89400981" "subst" "1.62462E-5" "01804" "ACAN_000303" "g.89400981C>G" "" "" "" "ACAN(NM_001135.3):c.5165C>G (p.(Ser1722Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864094" "0" "70" "15" "89401035" "89401035" "subst" "0" "01804" "ACAN_000304" "g.89401035C>A" "" "" "" "ACAN(NM_013227.3):c.5219C>A (p.(Ser1740*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864095" "0" "50" "15" "89401085" "89401085" "subst" "4.06161E-5" "01804" "ACAN_000305" "g.89401085G>A" "" "" "" "ACAN(NM_001135.3):c.5269G>A (p.(Gly1757Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864096" "0" "30" "15" "89401133" "89401133" "subst" "3.65571E-5" "01804" "ACAN_000306" "g.89401133C>A" "" "" "" "ACAN(NM_001135.3):c.5317C>A (p.(Leu1773Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864097" "0" "30" "15" "89401134" "89401134" "subst" "0.000584924" "01804" "ACAN_000307" "g.89401134T>C" "" "" "" "ACAN(NM_001135.3):c.5318T>C (p.(Leu1773Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864098" "0" "70" "15" "89401160" "89401160" "dup" "0" "01804" "ACAN_000308" "g.89401160dup" "" "" "" "ACAN(NM_001135.3):c.5344dup (p.(Ile1782Asnfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864099" "0" "50" "15" "89401310" "89401310" "subst" "4.06279E-6" "01804" "ACAN_000309" "g.89401310G>A" "" "" "" "ACAN(NM_001135.3):c.5494G>A (p.(Val1832Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864100" "0" "70" "15" "89401334" "89401335" "del" "0" "01804" "ACAN_000310" "g.89401334_89401335del" "" "" "" "ACAN(NM_001135.3):c.5518_5519del (p.(Ala1840Profs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864101" "0" "50" "15" "89401336" "89401336" "subst" "0" "01804" "ACAN_000311" "g.89401336C>T" "" "" "" "ACAN(NM_001135.3):c.5520C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864102" "0" "70" "15" "89401355" "89401355" "subst" "0" "01804" "ACAN_000213" "g.89401355G>T" "" "" "" "ACAN(NM_013227.3):c.5539G>T (p.(Glu1847*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864103" "0" "50" "15" "89401560" "89401560" "subst" "6.09295E-5" "01804" "ACAN_000312" "g.89401560G>C" "" "" "" "ACAN(NM_001135.3):c.5744G>C (p.(Ser1915Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864104" "0" "30" "15" "89401561" "89401561" "subst" "6.0934E-5" "01804" "ACAN_000313" "g.89401561C>T" "" "" "" "ACAN(NM_001135.3):c.5745C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864105" "0" "50" "15" "89401572" "89401572" "subst" "8.93684E-5" "01804" "ACAN_000314" "g.89401572C>T" "" "" "" "ACAN(NM_001135.3):c.5756C>T (p.(Ser1919Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864106" "0" "30" "15" "89401594" "89401594" "subst" "0" "01804" "ACAN_000315" "g.89401594A>G" "" "" "" "ACAN(NM_001135.3):c.5778A>G (p.(Gly1926=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864107" "0" "50" "15" "89401665" "89401665" "subst" "0" "01804" "ACAN_000316" "g.89401665C>G" "" "" "" "ACAN(NM_013227.3):c.5849C>G (p.(Thr1950Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864108" "0" "30" "15" "89401737" "89401737" "subst" "0.00166642" "01804" "ACAN_000317" "g.89401737T>C" "" "" "" "ACAN(NM_001135.3):c.5921T>C (p.(Met1974Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864109" "0" "30" "15" "89401747" "89401747" "subst" "0.000178785" "01804" "ACAN_000318" "g.89401747G>T" "" "" "" "ACAN(NM_001135.3):c.5931G>T (p.(Glu1977Asp)), ACAN(NM_013227.3):c.5931G>T (p.E1977D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864110" "0" "30" "15" "89401774" "89401774" "subst" "0" "01804" "ACAN_000319" "g.89401774G>T" "" "" "" "ACAN(NM_001135.3):c.5958G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864111" "0" "50" "15" "89401835" "89401835" "subst" "1.62536E-5" "01804" "ACAN_000320" "g.89401835G>A" "" "" "" "ACAN(NM_013227.3):c.6019G>A (p.(Asp2007Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864112" "0" "50" "15" "89401912" "89401912" "subst" "8.12539E-6" "01804" "ACAN_000321" "g.89401912A>G" "" "" "" "ACAN(NM_001135.3):c.6096A>G (p.(Pro2032=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864113" "0" "30" "15" "89401940" "89401940" "subst" "0.000178759" "01804" "ACAN_000322" "g.89401940G>A" "" "" "" "ACAN(NM_001135.3):c.6124G>A (p.(Val2042Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864114" "0" "30" "15" "89402030" "89402030" "subst" "2.43968E-5" "01804" "ACAN_000323" "g.89402030A>G" "" "" "" "ACAN(NM_001135.3):c.6214A>G (p.(Lys2072Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864115" "0" "30" "15" "89402046" "89402046" "subst" "0" "01804" "ACAN_000324" "g.89402046G>C" "" "" "" "ACAN(NM_001135.3):c.6230G>C (p.(Gly2077Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864116" "0" "30" "15" "89402124" "89402124" "subst" "0.000155642" "01804" "ACAN_000325" "g.89402124C>T" "" "" "" "ACAN(NM_001135.3):c.6308C>T (p.(Thr2103Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864117" "0" "30" "15" "89402128" "89402128" "subst" "4.09541E-5" "01804" "ACAN_000326" "g.89402128C>T" "" "" "" "ACAN(NM_001135.3):c.6312C>T (p.(Ser2104=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864118" "0" "30" "15" "89402146" "89402146" "subst" "0" "01804" "ACAN_000327" "g.89402146G>A" "" "" "" "ACAN(NM_001135.3):c.6330G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864119" "0" "30" "15" "89402293" "89402293" "subst" "8.1279E-6" "01804" "ACAN_000328" "g.89402293C>T" "" "" "" "ACAN(NM_001135.3):c.6477C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864120" "0" "50" "15" "89402405" "89402405" "subst" "1.21918E-5" "01804" "ACAN_000329" "g.89402405G>A" "" "" "" "ACAN(NM_001135.3):c.6589G>A (p.(Glu2197Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864121" "0" "50" "15" "89402465" "89402465" "subst" "3.25111E-5" "01804" "ACAN_000330" "g.89402465A>T" "" "" "" "ACAN(NM_001135.3):c.6649A>T (p.(Ile2217Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864122" "0" "30" "15" "89402509" "89402509" "subst" "0" "01804" "ACAN_000331" "g.89402509G>A" "" "" "" "ACAN(NM_001135.3):c.6693G>A (p.(Glu2231=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864123" "0" "30" "15" "89402539" "89402539" "subst" "0.000166032" "01804" "ACAN_000332" "g.89402539C>T" "" "" "" "ACAN(NM_001135.3):c.6723C>T (p.(Leu2241=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864124" "0" "30" "15" "89402596" "89402596" "subst" "3.52215E-5" "01804" "ACAN_000333" "g.89402596T>A" "" "" "" "ACAN(NM_001135.3):c.6780T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864125" "0" "30" "15" "89402663" "89402663" "dup" "0" "01804" "ACAN_000334" "g.89402663dup" "" "" "" "ACAN(NM_001135.3):c.6832+15dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864126" "0" "30" "15" "89403557" "89403557" "subst" "8.47221E-6" "01804" "ACAN_000335" "g.89403557C>T" "" "" "" "ACAN(NM_013227.3):c.6833C>T (p.(Ala2278Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864127" "0" "30" "15" "89403561" "89403561" "subst" "0.000246734" "01804" "ACAN_000336" "g.89403561C>T" "" "" "" "ACAN(NM_013227.3):c.6837C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864128" "0" "30" "15" "89403655" "89403655" "subst" "3.26033E-5" "01804" "ACAN_000337" "g.89403655G>A" "" "" "" "ACAN(NM_001369268.1):c.6931G>A (p.(Glu2311Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864129" "0" "50" "15" "89414624" "89414624" "subst" "0" "01804" "ACAN_000338" "g.89414624T>C" "" "" "" "ACAN(NM_013227.3):c.6958T>C (p.(Cys2320Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864130" "0" "50" "15" "89414674" "89414674" "subst" "8.94658E-5" "01804" "ACAN_000339" "g.89414674G>A" "" "" "" "ACAN(NM_001135.3):c.6894G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864131" "0" "30" "15" "89414703" "89414703" "subst" "0.000256414" "01804" "ACAN_000340" "g.89414703G>A" "" "" "" "ACAN(NM_001135.3):c.6923G>A (p.(Arg2308His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864132" "0" "50" "15" "89414708" "89414713" "dup" "0" "01804" "ACAN_000341" "g.89414708_89414713dup" "" "" "" "ACAN(NM_013227.3):c.7038_7039insCGGTGT (p.(Cys2348_Arg2349dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864133" "0" "30" "15" "89414741" "89414741" "subst" "0.000755947" "01804" "ACAN_000342" "g.89414741G>A" "" "" "" "ACAN(NM_001135.3):c.6961G>A (p.(Val2321Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864134" "0" "50" "15" "89415269" "89415269" "subst" "0" "01804" "ACAN_000343" "g.89415269G>C" "" "" "" "ACAN(NM_013227.3):c.7141G>C (p.(Asp2381His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864135" "0" "50" "15" "89415283" "89415283" "subst" "6.90484E-5" "01804" "ACAN_000344" "g.89415283A>C" "" "" "" "ACAN(NM_001135.3):c.7041A>C (p.(Glu2347Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864136" "0" "30" "15" "89416156" "89416156" "subst" "0.000821472" "01804" "HAPLN3_000012" "g.89416156C>T" "" "" "" "ACAN(NM_001135.3):c.7119C>T (p.(Ala2373=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864137" "0" "70" "15" "89416188" "89416198" "del" "0" "01804" "ACAN_000345" "g.89416188_89416198del" "" "" "" "ACAN(NM_013227.3):c.7262_7272del (p.(His2422ArgfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864138" "0" "50" "15" "89416198" "89416198" "subst" "0" "01804" "HAPLN3_000003" "g.89416198C>T" "" "" "" "ACAN(NM_013227.3):c.7275C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864139" "0" "30" "15" "89416199" "89416199" "subst" "0.000142369" "01804" "HAPLN3_000013" "g.89416199G>A" "" "" "" "ACAN(NM_001135.3):c.7162G>A (p.(Glu2388Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864140" "0" "30" "15" "89416267" "89416267" "subst" "4.17892E-5" "01804" "HAPLN3_000014" "g.89416267G>A" "" "" "" "ACAN(NM_001135.3):c.7219+11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864141" "0" "30" "15" "89417065" "89417065" "subst" "4.07591E-6" "01804" "HAPLN3_000015" "g.89417065C>T" "" "" "" "ACAN(NM_013227.3):c.7334-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864142" "0" "50" "15" "89417081" "89417081" "subst" "0.000154556" "01804" "HAPLN3_000016" "g.89417081G>A" "" "" "" "ACAN(NM_013227.3):c.7342G>A (p.(Gly2448Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864143" "0" "50" "15" "89417117" "89417117" "subst" "0.000138181" "01804" "HAPLN3_000017" "g.89417117G>A" "" "" "" "ACAN(NM_013227.3):c.7378G>A (p.(Gly2460Arg)), ACAN(NM_013227.4):c.7378G>A (p.G2460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864144" "0" "50" "15" "89417659" "89417659" "subst" "0" "01804" "HAPLN3_000018" "g.89417659C>G" "" "" "" "ACAN(NM_013227.3):c.7540C>G (p.(Gln2514Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864145" "0" "30" "15" "89417693" "89417693" "subst" "4.38912E-5" "01804" "HAPLN3_000019" "g.89417693G>A" "" "" "" "ACAN(NM_001135.3):c.7277G>A (p.(Arg2426His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892370" "0" "30" "15" "89381895" "89381895" "subst" "0.000351757" "01804" "ACAN_000346" "g.89381895C>A" "" "" "" "ACAN(NM_013227.3):c.72C>A (p.(Asp24Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892371" "0" "50" "15" "89381898" "89381898" "subst" "0" "02327" "ACAN_000217" "g.89381898T>A" "" "" "" "ACAN(NM_001135.3):c.75T>A (p.(His25Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892372" "0" "30" "15" "89381987" "89381987" "subst" "7.7281E-5" "01804" "ACAN_000347" "g.89381987A>G" "" "" "" "ACAN(NM_001135.3):c.164A>G (p.(Asp55Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892373" "0" "30" "15" "89381991" "89381991" "subst" "0.000272271" "01804" "ACAN_000348" "g.89381991C>T" "" "" "" "ACAN(NM_001135.3):c.168C>T (p.(Pro56=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892374" "0" "50" "15" "89382194" "89382194" "subst" "2.03731E-5" "01804" "ACAN_000349" "g.89382194G>A" "" "" "" "ACAN(NM_001135.3):c.371G>A (p.(Arg124His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892375" "0" "50" "15" "89383330" "89383330" "subst" "3.4776E-5" "01804" "ACAN_000350" "g.89383330T>A" "" "" "" "ACAN(NM_001135.3):c.542T>A (p.(Ile181Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892376" "0" "50" "15" "89384970" "89384970" "subst" "0" "01804" "ACAN_000351" "g.89384970G>A" "" "" "" "ACAN(NM_013227.3):c.630-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892377" "0" "50" "15" "89386747" "89386747" "subst" "1.23804E-5" "01804" "ACAN_000352" "g.89386747G>A" "" "" "" "ACAN(NM_001135.3):c.919G>A (p.(Val307Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892378" "0" "30" "15" "89386752" "89386752" "subst" "0.000391585" "01804" "ACAN_000353" "g.89386752C>G" "" "" "" "ACAN(NM_001135.3):c.924C>G (p.(Arg308=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892379" "0" "50" "15" "89388813" "89388813" "subst" "8.12929E-6" "01804" "ACAN_000354" "g.89388813T>C" "" "" "" "ACAN(NM_001135.3):c.1129T>C (p.(Trp377Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892380" "0" "50" "15" "89388869" "89388869" "subst" "0" "01804" "ACAN_000355" "g.89388869C>T" "" "" "" "ACAN(NM_001135.3):c.1185C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892381" "0" "30" "15" "89392823" "89392823" "subst" "9.13616E-5" "01804" "ACAN_000356" "g.89392823C>T" "" "" "" "ACAN(NM_001135.3):c.1887C>T (p.(Asp629=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892382" "0" "30" "15" "89392960" "89392960" "subst" "0.000135867" "01804" "ACAN_000357" "g.89392960G>A" "" "" "" "ACAN(NM_001135.3):c.2024G>A (p.(Arg675Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892383" "0" "70" "15" "89398135" "89398135" "del" "0" "01804" "ACAN_000358" "g.89398135del" "" "" "" "ACAN(NM_013227.3):c.2319del (p.(Gly774Alafs*36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892384" "0" "30" "15" "89398167" "89398167" "subst" "3.63722E-5" "01804" "ACAN_000017" "g.89398167C>T" "" "" "" "ACAN(NM_001135.3):c.2351C>T (p.(Ser784Leu)), ACAN(NM_013227.3):c.2351C>T (p.S784L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892385" "0" "50" "15" "89398368" "89398368" "subst" "0" "01804" "ACAN_000359" "g.89398368G>A" "" "" "" "ACAN(NM_013227.3):c.2552G>A (p.(Trp851*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892386" "0" "50" "15" "89398652" "89398708" "del" "0" "02325" "ACAN_000125" "g.89398652_89398708del" "" "" "" "ACAN(NM_001135.3):c.2836_2892del (p.(Gly946_Glu964del)), ACAN(NM_013227.4):c.2836_2892del (p.G946_E964del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892387" "0" "30" "15" "89398790" "89398790" "subst" "0" "01804" "ACAN_000360" "g.89398790A>C" "" "" "" "ACAN(NM_001135.3):c.2974A>C (p.(Ile992Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892388" "0" "30" "15" "89400049" "89400049" "subst" "1.22836E-5" "01804" "ACAN_000361" "g.89400049C>T" "" "" "" "ACAN(NM_001135.3):c.4233C>T (p.(Ser1411=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892389" "0" "30" "15" "89400341" "89400341" "subst" "0.00220157" "02325" "ACAN_000150" "g.89400341C>T" "" "" "" "ACAN(NM_001135.3):c.4525C>T (p.(Leu1509Phe)), ACAN(NM_013227.3):c.4525C>T (p.L1509F), ACAN(NM_013227.4):c.4525C>T (p.L1509F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892390" "0" "30" "15" "89400797" "89400797" "subst" "2.84497E-5" "01804" "ACAN_000362" "g.89400797C>T" "" "" "" "ACAN(NM_013227.3):c.4981C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892391" "0" "50" "15" "89400831" "89400831" "subst" "4.87726E-5" "01804" "ACAN_000363" "g.89400831C>T" "" "" "" "ACAN(NM_013227.3):c.5015C>T (p.(Ala1672Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892392" "0" "50" "15" "89401302" "89401302" "subst" "0" "01804" "ACAN_000364" "g.89401302T>A" "" "" "" "ACAN(NM_001135.3):c.5486T>A (p.(Ile1829Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892393" "0" "50" "15" "89401356" "89401356" "subst" "8.12863E-6" "01804" "ACAN_000365" "g.89401356A>T" "" "" "" "ACAN(NM_001135.3):c.5540A>T (p.(Glu1847Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892394" "0" "50" "15" "89401397" "89401397" "subst" "2.84428E-5" "01804" "ACAN_000366" "g.89401397G>A" "" "" "" "ACAN(NM_001135.3):c.5581G>A (p.(Gly1861Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892395" "0" "50" "15" "89401730" "89401730" "subst" "0.000126036" "01804" "ACAN_000367" "g.89401730C>T" "" "" "" "ACAN(NM_001135.3):c.5914C>T (p.(Pro1972Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892396" "0" "70" "15" "89401923" "89401923" "subst" "0" "01804" "ACAN_000368" "g.89401923T>G" "" "" "" "ACAN(NM_001135.3):c.6107T>G (p.(Leu2036*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892397" "0" "50" "15" "89402288" "89402288" "subst" "1.62538E-5" "01804" "ACAN_000369" "g.89402288G>A" "" "" "" "ACAN(NM_013227.3):c.6472G>A (p.(Glu2158Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892398" "0" "50" "15" "89402393" "89402393" "subst" "1.62569E-5" "01804" "ACAN_000178" "g.89402393G>A" "" "" "" "ACAN(NM_001135.3):c.6577G>A (p.(Gly2193Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892399" "0" "70" "15" "89402562" "89402583" "del" "0" "01804" "ACAN_000370" "g.89402562_89402583del" "" "" "" "ACAN(NM_001135.3):c.6743_6764del (p.(His2249Profs*62))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914396" "0" "50" "15" "89381986" "89381986" "subst" "2.03417E-5" "01804" "ACAN_000371" "g.89381986G>A" "" "" "" "ACAN(NM_013227.3):c.163G>A (p.(Asp55Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914397" "0" "30" "15" "89382240" "89382240" "subst" "8.34001E-5" "01804" "ACAN_000372" "g.89382240C>T" "" "" "" "ACAN(NM_001135.3):c.417C>T (p.(Ile139=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914398" "0" "30" "15" "89386664" "89386664" "subst" "0.000206764" "01804" "ACAN_000373" "g.89386664G>A" "" "" "" "ACAN(NM_001135.3):c.836G>A (p.(Arg279Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914399" "0" "50" "15" "89386694" "89386694" "subst" "0" "02327" "ACAN_000374" "g.89386694C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914400" "0" "70" "15" "89388864" "89388864" "subst" "0" "01804" "ACAN_000375" "g.89388864C>T" "" "" "" "ACAN(NM_001135.3):c.1180C>T (p.(Arg394*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914401" "0" "30" "15" "89388867" "89388867" "subst" "0.00107799" "01804" "ACAN_000376" "g.89388867G>A" "" "" "" "ACAN(NM_001135.3):c.1183G>A (p.(Gly395Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914402" "0" "70" "15" "89389079" "89389095" "del" "0" "01804" "ACAN_000377" "g.89389079_89389095del" "" "" "" "ACAN(NM_001135.3):c.1395_1411del (p.(Thr466Alafs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914403" "0" "50" "15" "89390611" "89390611" "subst" "3.76046E-5" "01804" "ACAN_000378" "g.89390611C>G" "" "" "" "ACAN(NM_001135.3):c.1567C>G (p.(Gln523Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914404" "0" "50" "15" "89400455" "89400455" "subst" "0.000178897" "02327" "ACAN_000299" "g.89400455G>A" "" "" "" "ACAN(NM_001135.3):c.4639G>A (p.(Gly1547Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914405" "0" "50" "15" "89400584" "89400584" "subst" "0.000219396" "01804" "ACAN_000379" "g.89400584C>T" "" "" "" "ACAN(NM_001135.3):c.4768C>T (p.(Pro1590Ser)), ACAN(NM_013227.4):c.4768C>T (p.P1590S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914406" "0" "50" "15" "89400692" "89400692" "subst" "2.84421E-5" "01804" "ACAN_000380" "g.89400692C>T" "" "" "" "ACAN(NM_001135.3):c.4876C>T (p.(Pro1626Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914407" "0" "50" "15" "89401043" "89401043" "subst" "0" "01804" "ACAN_000381" "g.89401043C>T" "" "" "" "ACAN(NM_001135.3):c.5227C>T (p.(Pro1743Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914408" "0" "30" "15" "89402277" "89402277" "subst" "3.65675E-5" "01804" "ACAN_000382" "g.89402277T>C" "" "" "" "ACAN(NM_001135.3):c.6461T>C (p.(Leu2154Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914409" "0" "70" "15" "89402359" "89402365" "del" "0" "01804" "ACAN_000383" "g.89402359_89402365del" "" "" "" "ACAN(NM_013227.3):c.6539_6545del (p.(Pro2182Cysfs*51))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926065" "0" "30" "15" "89381996" "89381996" "subst" "0" "01804" "ACAN_000384" "g.89381996A>T" "" "" "" "ACAN(NM_013227.3):c.173A>T (p.(His58Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926066" "0" "50" "15" "89383275" "89383275" "subst" "0" "01804" "ACAN_000385" "g.89383275C>T" "" "" "" "ACAN(NM_001135.3):c.487C>T (p.(Arg163Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926067" "0" "30" "15" "89383388" "89383388" "subst" "2.64073E-5" "01804" "ACAN_000386" "g.89383388C>T" "" "" "" "ACAN(NM_001135.3):c.600C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926068" "0" "50" "15" "89386801" "89386801" "subst" "8.26439E-5" "01804" "ACAN_000387" "g.89386801G>A" "" "" "" "ACAN(NM_001135.3):c.973G>A (p.(Val325Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926069" "0" "30" "15" "89389068" "89389068" "subst" "0" "01804" "ACAN_000388" "g.89389068G>T" "" "" "" "ACAN(NM_013227.3):c.1384G>T (p.(Val462Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926070" "0" "50" "15" "89392891" "89392891" "subst" "4.09544E-5" "02325" "ACAN_000389" "g.89392891C>T" "" "" "" "ACAN(NM_013227.3):c.1955C>T (p.(Thr652Met)), ACAN(NM_013227.4):c.1955C>T (p.T652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926071" "0" "30" "15" "89395180" "89395180" "subst" "0" "01804" "ACAN_000390" "g.89395180G>A" "" "" "" "ACAN(NM_013227.3):c.2182G>A (p.(Ala728Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926072" "0" "30" "15" "89398096" "89398096" "subst" "0.000827327" "01804" "ACAN_000391" "g.89398096T>A" "" "" "" "ACAN(NM_001135.3):c.2280T>A (p.(Thr760=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926073" "0" "50" "15" "89398815" "89398815" "subst" "0" "01804" "ACAN_000392" "g.89398815T>G" "" "" "" "ACAN(NM_001135.3):c.2999T>G (p.(Val1000Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926074" "0" "50" "15" "89399396" "89399396" "subst" "0.00103413" "01804" "ACAN_000393" "g.89399396G>A" "" "" "" "ACAN(NM_001135.3):c.3580G>A (p.(Ala1194Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926075" "0" "30" "15" "89401341" "89401341" "subst" "2.43845E-5" "01804" "ACAN_000394" "g.89401341C>T" "" "" "" "ACAN(NM_001135.3):c.5525C>T (p.(Thr1842Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926076" "0" "30" "15" "89402251" "89402251" "subst" "1.21897E-5" "01804" "ACAN_000395" "g.89402251T>C" "" "" "" "ACAN(NM_001135.3):c.6435T>C (p.(Ser2145=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926077" "0" "30" "15" "89402310" "89402310" "subst" "8.53353E-5" "01804" "ACAN_000396" "g.89402310C>T" "" "" "" "ACAN(NM_001135.3):c.6494C>T (p.(Pro2165Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926078" "0" "30" "15" "89414614" "89414614" "subst" "0" "01804" "ACAN_000397" "g.89414614C>T" "" "" "" "ACAN(NM_013227.3):c.6948C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930460" "0" "30" "15" "89391221" "89391221" "subst" "2.43679E-5" "01804" "ACAN_000398" "g.89391221C>G" "" "" "" "ACAN(NM_001135.3):c.1684C>G (p.(Pro562Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930461" "0" "30" "15" "89395257" "89395257" "subst" "4.54455E-5" "01804" "ACAN_000399" "g.89395257G>A" "" "" "" "ACAN(NM_013227.3):c.2259G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930462" "0" "50" "15" "89395269" "89395269" "subst" "0" "01804" "ACAN_000400" "g.89395269G>T" "" "" "" "ACAN(NM_001369268.1):c.2266+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930463" "0" "30" "15" "89398328" "89398328" "subst" "0" "01804" "ACAN_000401" "g.89398328T>G" "" "" "" "ACAN(NM_013227.3):c.2512T>G (p.(Ser838Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930464" "0" "30" "15" "89398586" "89398586" "subst" "0" "01804" "ACAN_000402" "g.89398586G>A" "" "" "" "ACAN(NM_001135.3):c.2770G>A (p.(Glu924Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930465" "0" "50" "15" "89400080" "89400193" "del" "0" "01804" "ACAN_000294" "g.89400080_89400193del" "" "" "" "ACAN(NM_013227.3):c.4264_4377del (p.(Thr1422_Thr1459del)), ACAN(NM_013227.4):c.4264_4377del (p.T1422_T1459del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930466" "0" "30" "15" "89401462" "89401462" "subst" "1.62557E-5" "01804" "ACAN_000403" "g.89401462C>T" "" "" "" "ACAN(NM_001135.3):c.5646C>T (p.(Val1882=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930467" "0" "30" "15" "89414644" "89414644" "subst" "0.000850679" "02327" "ACAN_000182" "g.89414644G>A" "" "" "" "ACAN(NM_001135.3):c.6864G>A (p.(Lys2288=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930468" "0" "90" "15" "89416172" "89416172" "subst" "0" "02327" "HAPLN3_000020" "g.89416172G>A" "" "" "" "ACAN(NM_001135.3):c.7135G>A (p.(Val2379Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950461" "0" "90" "15" "89385095" "89385095" "subst" "0" "02327" "ACAN_000404" "g.89385095G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950462" "0" "50" "15" "89386738" "89386738" "subst" "0" "01804" "ACAN_000405" "g.89386738G>A" "" "" "" "ACAN(NM_013227.3):c.910G>A (p.(Asp304Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950463" "0" "30" "15" "89392775" "89392775" "subst" "0.00062104" "01804" "ACAN_000406" "g.89392775C>T" "" "" "" "ACAN(NM_001135.3):c.1839C>T (p.(Ala613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950464" "0" "50" "15" "89392821" "89392821" "subst" "2.17218E-5" "01804" "ACAN_000407" "g.89392821G>A" "" "" "" "ACAN(NM_001135.3):c.1885G>A (p.(Asp629Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950465" "0" "30" "15" "89395201" "89395201" "subst" "0.000140017" "01804" "ACAN_000114" "g.89395201G>A" "" "" "" "ACAN(NM_001135.3):c.2203G>A (p.(Glu735Lys)), ACAN(NM_013227.3):c.2203G>A (p.E735K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950466" "0" "30" "15" "89398502" "89398502" "subst" "0" "01804" "ACAN_000408" "g.89398502T>A" "" "" "" "ACAN(NM_013227.3):c.2686T>A (p.(Ser896Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950467" "0" "30" "15" "89398940" "89398940" "subst" "0" "01804" "ACAN_000409" "g.89398940A>G" "" "" "" "ACAN(NM_001135.3):c.3124A>G (p.(Thr1042Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950468" "0" "30" "15" "89400971" "89400971" "subst" "0" "01804" "ACAN_000410" "g.89400971G>T" "" "" "" "ACAN(NM_013227.3):c.5155G>T (p.(Ala1719Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950469" "0" "50" "15" "89401157" "89401157" "subst" "0" "01804" "ACAN_000411" "g.89401157G>A" "" "" "" "ACAN(NM_013227.3):c.5341G>A (p.(Gly1781Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950470" "0" "50" "15" "89401443" "89401443" "subst" "7.3144E-5" "01804" "ACAN_000412" "g.89401443G>A" "" "" "" "ACAN(NM_001135.3):c.5627G>A (p.(Gly1876Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950471" "0" "70" "15" "89402228" "89402228" "subst" "0" "01804" "ACAN_000413" "g.89402228G>T" "" "" "" "ACAN(NM_001135.3):c.6412G>T (p.(Glu2138Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950472" "0" "30" "15" "89402429" "89402429" "subst" "0" "01804" "ACAN_000414" "g.89402429C>G" "" "" "" "ACAN(NM_001135.3):c.6613C>G (p.(His2205Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950473" "0" "50" "15" "89416251" "89416251" "subst" "0" "01804" "HAPLN3_000021" "g.89416251G>A" "" "" "" "ACAN(NM_001135.3):c.7214G>A (p.(Gly2405Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950474" "0" "50" "15" "89417117" "89417117" "subst" "0.000138181" "02325" "HAPLN3_000017" "g.89417117G>A" "" "" "" "ACAN(NM_013227.3):c.7378G>A (p.(Gly2460Arg)), ACAN(NM_013227.4):c.7378G>A (p.G2460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968001" "0" "50" "15" "89379445" "89379445" "subst" "0" "01804" "ACAN_000415" "g.89379445C>A" "" "" "" "ACAN(NM_013227.3):c.8C>A (p.(Thr3Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968002" "0" "90" "15" "89385047" "89385047" "subst" "0" "02327" "ACAN_000005" "g.89385047C>T" "" "" "" "ACAN(NM_001135.3):c.706C>T (p.(Arg236*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968003" "0" "30" "15" "89386566" "89386566" "subst" "2.48353E-5" "01804" "ACAN_000416" "g.89386566G>T" "" "" "" "ACAN(NM_001135.3):c.758-20G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968004" "0" "50" "15" "89392747" "89392747" "subst" "0" "02327" "ACAN_000417" "g.89392747C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968005" "0" "50" "15" "89392915" "89392915" "subst" "6.55544E-5" "02325" "ACAN_000418" "g.89392915C>T" "" "" "" "ACAN(NM_013227.4):c.1979C>T (p.T660M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968006" "0" "30" "15" "89392916" "89392916" "subst" "3.68819E-5" "01804" "ACAN_000419" "g.89392916G>A" "" "" "" "ACAN(NM_001135.3):c.1980G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968007" "0" "90" "15" "89392963" "89392963" "subst" "0" "01804" "ACAN_000420" "g.89392963G>A" "" "" "" "ACAN(NM_013227.3):c.2026+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968009" "0" "30" "15" "89398771" "89398771" "subst" "8.18773E-6" "01804" "ACAN_000422" "g.89398771T>C" "" "" "" "ACAN(NM_001135.3):c.2955T>C (p.(Thr985=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968010" "0" "30" "15" "89398795" "89398795" "subst" "1.24126E-5" "01804" "ACAN_000423" "g.89398795C>T" "" "" "" "ACAN(NM_001135.3):c.2979C>T (p.(Ser993=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968011" "0" "30" "15" "89398883" "89398883" "subst" "0.000468165" "01804" "ACAN_000424" "g.89398883A>G" "" "" "" "ACAN(NM_001135.3):c.3067A>G (p.(Thr1023Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968012" "0" "30" "15" "89399224" "89399224" "subst" "0" "01804" "ACAN_000425" "g.89399224C>T" "" "" "" "ACAN(NM_001135.3):c.3408C>T (p.(Thr1136=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968013" "0" "50" "15" "89399395" "89399395" "subst" "0" "01804" "ACAN_000426" "g.89399395C>T" "" "" "" "ACAN(NM_001135.3):c.3579C>T (p.(Thr1193=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968014" "0" "50" "15" "89399396" "89399396" "subst" "0.00517063" "01804" "ACAN_000427" "g.89399396G>T" "" "" "" "ACAN(NM_001135.3):c.3580G>T (p.(Ala1194Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968015" "0" "30" "15" "89400039" "89400040" "ins" "1.20687E-5" "01804" "ACAN_000428" "g.89400039_89400040insTGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGA" "" "" "" "ACAN(NM_001135.3):c.4223_4224insTGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGA (p.(Val1407_Glu1408insAspGluIleSerGlyLeuProSerGlyGluVal...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968016" "0" "70" "15" "89401334" "89401334" "del" "0" "01804" "ACAN_000429" "g.89401334del" "" "" "" "ACAN(NM_013227.3):c.5518del (p.(Ala1840ProfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968017" "0" "30" "15" "89402308" "89402308" "subst" "0" "01804" "ACAN_000430" "g.89402308C>G" "" "" "" "ACAN(NM_001135.3):c.6492C>G (p.(Ala2164=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968018" "0" "50" "15" "89402620" "89402620" "subst" "5.95586E-6" "01804" "ACAN_000431" "g.89402620G>C" "" "" "" "ACAN(NM_001135.3):c.6804G>C (p.(Trp2268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968020" "0" "50" "15" "89422252" "89422252" "subst" "7.87967E-5" "01804" "HAPLN3_000023" "g.89422252G>A" "" "" "" "HAPLN3(NM_178232.2):c.742C>T (p.(Arg248Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981473" "0" "30" "15" "89383234" "89383234" "subst" "0" "01804" "ACAN_000432" "g.89383234G>A" "" "" "" "ACAN(NM_001135.3):c.455-9G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981474" "0" "30" "15" "89390469" "89390469" "subst" "0.000358985" "01804" "ACAN_000433" "g.89390469C>T" "" "" "" "ACAN(NM_001135.3):c.1430-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981475" "0" "50" "15" "89392729" "89392729" "subst" "0" "01804" "ACAN_000434" "g.89392729G>T" "" "" "" "ACAN(NM_013227.3):c.1793G>T (p.(Cys598Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981476" "0" "30" "15" "89392749" "89392749" "subst" "0" "01804" "ACAN_000435" "g.89392749C>T" "" "" "" "ACAN(NM_013227.3):c.1813C>T (p.(Leu605=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981477" "0" "50" "15" "89392770" "89392770" "subst" "0" "01804" "ACAN_000436" "g.89392770T>A" "" "" "" "ACAN(NM_013227.3):c.1834T>A (p.(Tyr612Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981478" "0" "50" "15" "89392915" "89392915" "subst" "6.55544E-5" "02327" "ACAN_000418" "g.89392915C>T" "" "" "" "ACAN(NM_013227.4):c.1979C>T (p.T660M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981479" "0" "70" "15" "89395171" "89395171" "subst" "0" "01804" "ACAN_000437" "g.89395171G>T" "" "" "" "ACAN(NM_001369268.1):c.2173G>T (p.(Glu725Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981480" "0" "30" "15" "89398940" "89398940" "subst" "0" "01804" "ACAN_000438" "g.89398940A>T" "" "" "" "ACAN(NM_001135.3):c.3124A>T (p.(Thr1042Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981481" "0" "30" "15" "89399681" "89399681" "subst" "0" "01804" "ACAN_000439" "g.89399681G>A" "" "" "" "ACAN(NM_001135.3):c.3865G>A (p.(Ala1289Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981483" "0" "50" "15" "89400531" "89400531" "subst" "0" "01804" "ACAN_000441" "g.89400531G>A" "" "" "" "ACAN(NM_001369268.1):c.4715G>A (p.(Gly1572Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981484" "0" "30" "15" "89402026" "89402026" "subst" "2.03287E-5" "01804" "ACAN_000442" "g.89402026T>C" "" "" "" "ACAN(NM_001135.3):c.6210T>C (p.(Ser2070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981485" "0" "50" "15" "89402048" "89402048" "subst" "6.91259E-5" "01804" "ACAN_000443" "g.89402048G>T" "" "" "" "ACAN(NM_001135.3):c.6232G>T (p.(Asp2078Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981486" "0" "30" "15" "89402433" "89402433" "subst" "0" "01804" "ACAN_000444" "g.89402433C>A" "" "" "" "ACAN(NM_013227.3):c.6617C>A (p.(Thr2206Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981487" "0" "50" "15" "89417117" "89417117" "subst" "0.000138181" "02327" "HAPLN3_000017" "g.89417117G>A" "" "" "" "ACAN(NM_013227.3):c.7378G>A (p.(Gly2460Arg)), ACAN(NM_013227.4):c.7378G>A (p.G2460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001737" "0" "50" "15" "89379428" "89379428" "subst" "0.000183131" "01804" "ACAN_000445" "g.89379428C>T" "" "" "" "ACAN(NM_001369268.1):c.-7-3C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001738" "0" "30" "15" "89383371" "89383371" "subst" "0" "01804" "ACAN_000446" "g.89383371G>A" "" "" "" "ACAN(NM_013227.3):c.583G>A (p.(Gly195Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001739" "0" "50" "15" "89383392" "89383392" "subst" "0" "01804" "ACAN_000447" "g.89383392G>A" "" "" "" "ACAN(NM_013227.3):c.604G>A (p.(Gly202Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001740" "0" "50" "15" "89389083" "89389083" "subst" "1.09854E-5" "01804" "ACAN_000448" "g.89389083G>A" "" "" "" "ACAN(NM_013227.3):c.1399G>A (p.(Ala467Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001741" "0" "30" "15" "89392748" "89392748" "subst" "8.60111E-5" "01804" "ACAN_000449" "g.89392748G>A" "" "" "" "ACAN(NM_001135.3):c.1812G>A (p.(Thr604=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001742" "0" "30" "15" "89392845" "89392845" "subst" "8.75233E-5" "01804" "ACAN_000196" "g.89392845G>A" "" "" "" "ACAN(NM_001135.3):c.1909G>A (p.(Val637Ile)), ACAN(NM_013227.3):c.1909G>A (p.V637I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001743" "0" "50" "15" "89392891" "89392891" "subst" "4.09544E-5" "01804" "ACAN_000389" "g.89392891C>T" "" "" "" "ACAN(NM_013227.3):c.1955C>T (p.(Thr652Met)), ACAN(NM_013227.4):c.1955C>T (p.T652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001744" "0" "50" "15" "89398160" "89398160" "subst" "0" "01804" "ACAN_000450" "g.89398160T>C" "" "" "" "ACAN(NM_013227.3):c.2344T>C (p.(Ser782Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001745" "0" "30" "15" "89398670" "89398670" "subst" "0" "01804" "ACAN_000451" "g.89398670G>A" "" "" "" "ACAN(NM_001135.3):c.2854G>A (p.(Gly952Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001746" "0" "50" "15" "89398718" "89398718" "subst" "5.28013E-5" "01804" "ACAN_000452" "g.89398718T>C" "" "" "" "ACAN(NM_013227.3):c.2902T>C (p.(Ser968Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001747" "0" "30" "15" "89398763" "89398763" "subst" "0.000130262" "01804" "ACAN_000206" "g.89398763G>C" "" "" "" "ACAN(NM_001135.3):c.2947G>C (p.(Glu983Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001748" "0" "50" "15" "89398816" "89398816" "subst" "0" "01804" "ACAN_000453" "g.89398816T>C" "" "" "" "ACAN(NM_013227.3):c.3000T>C (p.(Val1000=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001749" "0" "50" "15" "89398831" "89398831" "subst" "1.835E-5" "01804" "ACAN_000132" "g.89398831C>T" "" "" "" "ACAN(NM_001135.3):c.3015C>T (p.(Ala1005=)), ACAN(NM_013227.3):c.3015C>T (p.A1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001750" "0" "50" "15" "89398997" "89399167" "del" "0" "01804" "ACAN_000454" "g.89398997_89399167del" "" "" "" "ACAN(NM_001369268.1):c.3181_3351del (p.(Thr1061_Thr1117del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001751" "0" "50" "15" "89399111" "89399111" "subst" "0" "01804" "ACAN_000025" "g.89399111G>A" "" "" "" "ACAN(NM_001135.3):c.3295G>A (p.(Ala1099Thr)), ACAN(NM_013227.4):c.3295G>A (p.A1099T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001752" "0" "30" "15" "89399281" "89399281" "subst" "0" "01804" "ACAN_000455" "g.89399281C>T" "" "" "" "ACAN(NM_001135.3):c.3465C>T (p.(Thr1155=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001753" "0" "30" "15" "89399795" "89399795" "subst" "0" "01804" "ACAN_000456" "g.89399795G>A" "" "" "" "ACAN(NM_001135.3):c.3979G>A (p.(Ala1327Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001754" "0" "50" "15" "89399913" "89399913" "subst" "0" "01804" "ACAN_000457" "g.89399913C>T" "" "" "" "ACAN(NM_001135.3):c.4097C>T (p.(Ala1366Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001755" "0" "50" "15" "89399927" "89399927" "subst" "0" "02325" "ACAN_000136" "g.89399927G>C" "" "" "" "ACAN(NM_001135.3):c.4111G>C (p.(Asp1371His)), ACAN(NM_013227.4):c.4111G>C (p.D1371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001756" "0" "70" "15" "89401277" "89401284" "del" "0" "01804" "ACAN_000458" "g.89401277_89401284del" "" "" "" "ACAN(NM_001135.3):c.5461_5468del (p.(Ser1821ArgfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001757" "0" "70" "15" "89401424" "89401451" "dup" "0" "01804" "ACAN_000459" "g.89401424_89401451dup" "" "" "" "ACAN(NM_013227.3):c.5608_5635dup (p.(Ser1879TrpfsTer34))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001758" "0" "30" "15" "89402299" "89402299" "subst" "3.65758E-5" "01804" "ACAN_000460" "g.89402299G>A" "" "" "" "ACAN(NM_001135.3):c.6483G>A (p.(Ala2161=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001759" "0" "70" "15" "89402432" "89402433" "del" "0" "01804" "ACAN_000461" "g.89402432_89402433del" "" "" "" "ACAN(NM_013227.3):c.6616_6617delAC (p.(Thr2206fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001760" "0" "30" "15" "89414673" "89414673" "subst" "1.62672E-5" "01804" "ACAN_000462" "g.89414673C>T" "" "" "" "ACAN(NM_013227.3):c.7007C>T (p.(Pro2336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001761" "0" "50" "15" "89416233" "89416233" "subst" "0" "01804" "HAPLN3_000024" "g.89416233C>T" "" "" "" "ACAN(NM_001135.3):c.7196C>T (p.(Pro2399Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001762" "0" "50" "15" "89417665" "89417665" "subst" "2.57411E-5" "01804" "HAPLN3_000025" "g.89417665C>T" "" "" "" "ACAN(NM_001135.3):c.7249C>T (p.(Arg2417Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001763" "0" "50" "15" "89417692" "89417692" "subst" "0" "01804" "HAPLN3_000011" "g.89417692C>T" "" "" "" "ACAN(NM_001135.3):c.7276C>T (p.(Arg2426Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001764" "0" "30" "15" "89417768" "89417768" "subst" "6.20132E-6" "01804" "HAPLN3_000026" "g.89417768G>A" "" "" "" "ACAN(NM_013227.3):c.*56G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015257" "0" "50" "15" "89383287" "89383287" "subst" "1.76434E-5" "01804" "ACAN_000463" "g.89383287G>A" "" "" "" "ACAN(NM_001135.3):c.499G>A (p.(Asp167Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015258" "0" "30" "15" "89386656" "89386656" "subst" "4.13647E-5" "01804" "ACAN_000464" "g.89386656G>A" "" "" "" "ACAN(NM_001135.3):c.828G>A (p.(Leu276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015259" "0" "30" "15" "89386725" "89386725" "subst" "7.0682E-5" "01804" "ACAN_000465" "g.89386725C>T" "" "" "" "ACAN(NM_001135.3):c.897C>T (p.(Ala299=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015260" "0" "50" "15" "89398966" "89398966" "subst" "0" "01804" "ACAN_000466" "g.89398966C>A" "" "" "" "ACAN(NM_013227.3):c.3150C>A (p.(Ser1050Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015261" "0" "50" "15" "89399738" "89399738" "subst" "0" "01804" "ACAN_000467" "g.89399738G>A" "" "" "" "ACAN(NM_001135.3):c.3922G>A (p.(Ala1308Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015262" "0" "30" "15" "89400745" "89400745" "subst" "0" "01804" "ACAN_000468" "g.89400745C>T" "" "" "" "ACAN(NM_001135.3):c.4929C>T (p.(Pro1643=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015263" "0" "50" "15" "89401248" "89401248" "subst" "8.12394E-6" "01804" "ACAN_000469" "g.89401248G>A" "" "" "" "ACAN(NM_013227.3):c.5432G>A (p.(Gly1811Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015264" "0" "50" "15" "89402250" "89402250" "subst" "2.43789E-5" "01804" "ACAN_000470" "g.89402250C>T" "" "" "" "ACAN(NM_001135.3):c.6434C>T (p.(Ser2145Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015265" "0" "30" "15" "89415329" "89415329" "subst" "4.06646E-6" "01804" "ACAN_000471" "g.89415329G>A" "" "" "" "ACAN(NM_001135.3):c.7074+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015266" "0" "50" "15" "89417237" "89417237" "subst" "0" "01804" "HAPLN3_000027" "g.89417237C>T" "" "" "" "ACAN(NM_013227.3):c.7498C>T (p.(Gln2500Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026521" "0" "70" "15" "89379508" "89379508" "subst" "0" "02325" "ACAN_000472" "g.89379508G>A" "" "" "" "ACAN(NM_013227.4):c.70+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026522" "0" "50" "15" "89386676" "89386676" "subst" "3.72424E-5" "02325" "ACAN_000473" "g.89386676C>T" "" "" "" "ACAN(NM_013227.4):c.848C>T (p.T283M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026523" "0" "50" "15" "89388983" "89388983" "subst" "2.0565E-5" "01804" "ACAN_000474" "g.89388983G>C" "" "" "" "ACAN(NM_001135.3):c.1299G>C (p.(Glu433Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026524" "0" "50" "15" "89390528" "89390528" "subst" "0.000145212" "01804" "ACAN_000475" "g.89390528A>G" "" "" "" "ACAN(NM_001135.3):c.1484A>G (p.(Glu495Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026525" "0" "50" "15" "89391219" "89391219" "subst" "4.87385E-5" "01804" "ACAN_000476" "g.89391219G>A" "" "" "" "ACAN(NM_001135.3):c.1682G>A (p.(Arg561His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026526" "0" "50" "15" "89392884" "89392884" "subst" "0.000184275" "01804" "ACAN_000477" "g.89392884G>A" "" "" "" "ACAN(NM_001135.3):c.1948G>A (p.(Val650Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026527" "0" "10" "15" "89398123" "89398123" "subst" "0.00167645" "01804" "ACAN_000478" "g.89398123G>A" "" "" "" "ACAN(NM_013227.3):c.2307G>A (p.(Glu769=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026528" "0" "50" "15" "89400163" "89400163" "subst" "0.000499679" "01804" "ACAN_000479" "g.89400163C>T" "" "" "" "ACAN(NM_001135.3):c.4347C>T (p.(Ser1449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026529" "0" "50" "15" "89400584" "89400584" "subst" "0.000219396" "02325" "ACAN_000379" "g.89400584C>T" "" "" "" "ACAN(NM_001135.3):c.4768C>T (p.(Pro1590Ser)), ACAN(NM_013227.4):c.4768C>T (p.P1590S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026530" "0" "30" "15" "89402302" "89402302" "subst" "0" "01804" "ACAN_000480" "g.89402302C>A" "" "" "" "ACAN(NM_013227.3):c.6486C>A (p.(Ser2162=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026531" "0" "30" "15" "89402446" "89402446" "subst" "6.09538E-5" "01804" "ACAN_000481" "g.89402446C>T" "" "" "" "ACAN(NM_001135.3):c.6630C>T (p.(Gly2210=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026532" "0" "50" "15" "89415284" "89415284" "subst" "0" "01804" "ACAN_000482" "g.89415284G>A" "" "" "" "ACAN(NM_013227.3):c.7156G>A (p.(Gly2386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026533" "0" "50" "15" "89416172" "89416172" "subst" "0" "01804" "HAPLN3_000020" "g.89416172G>A" "" "" "" "ACAN(NM_001135.3):c.7135G>A (p.(Val2379Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040642" "0" "90" "15" "89383274" "89383274" "dup" "0" "01804" "ACAN_000484" "g.89383274dup" "" "" "" "ACAN(NM_013227.3):c.486dup (p.(Arg163ThrfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040643" "0" "10" "15" "89383310" "89383310" "subst" "5.73228E-5" "01804" "ACAN_000485" "g.89383310C>G" "" "" "" "ACAN(NM_001135.3):c.522C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040644" "0" "50" "15" "89386576" "89386585" "del" "0" "01804" "ACAN_000486" "g.89386576_89386585del" "" "" "" "ACAN(NM_013227.3):c.758-10_758-1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040645" "0" "50" "15" "89386859" "89386859" "subst" "3.03841E-5" "01804" "ACAN_000487" "g.89386859A>G" "" "" "" "ACAN(NM_001369268.1):c.1031A>G (p.(Tyr344Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040646" "0" "50" "15" "89388930" "89388930" "subst" "2.44626E-5" "01804" "ACAN_000488" "g.89388930G>A" "" "" "" "ACAN(NM_001369268.1):c.1246G>A (p.(Glu416Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040647" "0" "50" "15" "89398745" "89398745" "subst" "0" "01804" "ACAN_000489" "g.89398745C>T" "" "" "" "ACAN(NM_001369268.1):c.2929C>T (p.(Pro977Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040648" "0" "50" "15" "89398950" "89398950" "del" "0" "01804" "ACAN_000490" "g.89398950del" "" "" "" "ACAN(NM_001135.3):c.3134del (p.(Gly1045GlufsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040649" "0" "50" "15" "89399080" "89399080" "subst" "8.96604E-5" "01804" "ACAN_000491" "g.89399080C>T" "" "" "" "ACAN(NM_001135.3):c.3264C>T (p.(Ser1088=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040650" "0" "50" "15" "89399339" "89399339" "subst" "0" "01804" "ACAN_000492" "g.89399339G>A" "" "" "" "ACAN(NM_001135.3):c.3523G>A (p.(Ala1175Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040651" "0" "30" "15" "89399510" "89399510" "subst" "0" "01804" "ACAN_000493" "g.89399510G>A" "" "" "" "ACAN(NM_001135.3):c.3694G>A (p.(Ala1232Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044581" "0" "70" "15" "89381861" "89381880" "del" "0" "01164" "ACAN_000483" "g.89381861_89381880del" "" "" "" "" "ACMG: PS2, PM2_SUP, PP3, confirmed de novo" "De novo" "-" "" "0" "" "" "g.88838630_88838649del" "" "likely pathogenic (dominant)" "ACMG" "0001046507" "0" "30" "15" "89379516" "89379516" "subst" "0.000547149" "01804" "ACAN_000494" "g.89379516A>T" "" "" "" "ACAN(NM_001135.3):c.70+9A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046508" "0" "30" "15" "89382255" "89382255" "subst" "0.00020601" "01804" "ACAN_000495" "g.89382255C>A" "" "" "" "ACAN(NM_001135.3):c.432C>A (p.(Ala144=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046509" "0" "30" "15" "89388865" "89388865" "subst" "4.47471E-5" "01804" "ACAN_000496" "g.89388865G>A" "" "" "" "ACAN(NM_001135.3):c.1181G>A (p.(Arg394Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046510" "0" "50" "15" "89390619" "89390619" "subst" "0.00017182" "01804" "ACAN_000497" "g.89390619C>G" "" "" "" "ACAN(NM_013227.3):c.1575C>G (p.(Asp525Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046511" "0" "70" "15" "89395098" "89395102" "del" "0" "01804" "ACAN_000498" "g.89395098_89395102del" "" "" "" "ACAN(NM_013227.3):c.2100_2104del (p.(Trp700CysfsTer78))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046512" "0" "50" "15" "89395110" "89395110" "subst" "4.10765E-6" "01804" "ACAN_000499" "g.89395110A>T" "" "" "" "ACAN(NM_001135.3):c.2112A>T (p.(Gln704His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046513" "0" "30" "15" "89398259" "89398259" "subst" "1.82276E-5" "01804" "ACAN_000500" "g.89398259G>A" "" "" "" "ACAN(NM_001135.3):c.2443G>A (p.(Val815Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046514" "0" "50" "15" "89400026" "89400026" "subst" "0" "01804" "ACAN_000501" "g.89400026G>T" "" "" "" "ACAN(NM_001135.3):c.4210G>T (p.(Ala1404Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046515" "0" "50" "15" "89401958" "89401958" "subst" "0.000134067" "02327" "ACAN_000166" "g.89401958C>G" "" "" "" "ACAN(NM_001135.3):c.6142C>G (p.(Pro2048Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046516" "0" "50" "15" "89402162" "89402162" "subst" "2.86217E-5" "01804" "ACAN_000502" "g.89402162G>A" "" "" "" "ACAN(NM_001135.3):c.6346G>A (p.(Ala2116Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046517" "0" "30" "15" "89402441" "89402441" "subst" "2.43809E-5" "01804" "ACAN_000195" "g.89402441C>T" "" "" "" "ACAN(NM_001135.3):c.6625C>T (p.(Leu2209=)), ACAN(NM_013227.3):c.6625C>T (p.L2209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046518" "0" "50" "15" "89402559" "89402559" "subst" "8.6253E-5" "01804" "ACAN_000503" "g.89402559C>T" "" "" "" "ACAN(NM_001135.3):c.6743C>T (p.(Thr2248Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046519" "0" "50" "15" "89403689" "89403689" "subst" "0" "01804" "ACAN_000504" "g.89403689G>A" "" "" "" "ACAN(NM_013227.3):c.6946+19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046520" "0" "50" "15" "89417156" "89417156" "subst" "7.7222E-5" "01804" "HAPLN3_000028" "g.89417156C>T" "" "" "" "ACAN(NM_013227.3):c.7417C>T (p.(Arg2473Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055233" "0" "50" "15" "89400554" "89400554" "subst" "0" "01804" "ACAN_000505" "g.89400554G>T" "" "" "" "ACAN(NM_001369268.1):c.4738G>T (p.(Ala1580Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055234" "0" "70" "15" "89401245" "89401245" "subst" "0" "01804" "ACAN_000506" "g.89401245C>G" "" "" "" "ACAN(NM_001369268.1):c.5429C>G (p.(Ser1810*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055235" "0" "70" "15" "89415269" "89415269" "subst" "0" "01804" "ACAN_000507" "g.89415269G>T" "" "" "" "ACAN(NM_001369268.1):c.7255G>T (p.(Asp2419Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055236" "0" "50" "15" "89415281" "89415281" "subst" "0" "02327" "ACAN_000508" "g.89415281G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059600" "21" "70" "15" "89391140" "89391140" "subst" "0" "00006" "ACAN_000509" "g.89391140A>C" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88847909A>C" "SCV002507155.1" "likely pathogenic (dominant)" "" ## 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 ACAN ## Count = 609 "{{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}}" "0000128949" "00024162" "90" "6" "0" "13" "0" "c.6_13del" "r.(?)" "p.(Thr3Leufs*21)" "2" "0000128950" "00024162" "90" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Tyr221Metfs*10)" "5" "0000128952" "00024162" "90" "1120" "0" "1123" "0" "c.1120_1123del" "r.(?)" "p.(Thr374*)" "7" "0000248750" "00024162" "10" "4523" "0" "4523" "0" "c.4523A>C" "r.(?)" "p.(Glu1508Ala)" "" "0000248781" "00024162" "10" "5293" "0" "5293" "0" "c.5293A>G" "r.(?)" "p.(Ile1765Val)" "" "0000248787" "00024162" "10" "6235" "0" "6235" "0" "c.6235A>G" "r.(?)" "p.(Ile2079Val)" "" "0000248878" "00024162" "10" "7499" "0" "7499" "0" "c.7499A>G" "r.(?)" "p.(Gln2500Arg)" "" "0000248919" "00024162" "10" "4207" "0" "4207" "0" "c.4207A>G" "r.(?)" "p.(Thr1403Ala)" "" "0000255114" "00024162" "30" "2953" "0" "2953" "0" "c.2953A>G" "r.(?)" "p.(Thr985Ala)" "" "0000258876" "00024162" "10" "1623" "0" "1623" "0" "c.1623C>A" "r.(?)" "p.(Pro541=)" "" "0000258877" "00024162" "10" "1809" "0" "1809" "0" "c.1809T>C" "r.(?)" "p.(Ala603=)" "" "0000258878" "00024162" "10" "2289" "0" "2289" "0" "c.2289C>T" "r.(?)" "p.(Pro763=)" "" "0000258879" "00024162" "10" "2514" "0" "2514" "0" "c.2514G>A" "r.(?)" "p.(Ser838=)" "" "0000258880" "00024162" "10" "2591" "0" "2591" "0" "c.2591C>T" "r.(?)" "p.(Pro864Leu)" "" "0000258881" "00024162" "10" "2789" "0" "2789" "0" "c.2789G>T" "r.(?)" "p.(Ser930Ile)" "" "0000258882" "00024162" "10" "2815" "0" "2815" "0" "c.2815T>A" "r.(?)" "p.(Ser939Thr)" "" "0000258883" "00024162" "10" "3009" "0" "3009" "0" "c.3009C>T" "r.(?)" "p.(Thr1003=)" "" "0000258884" "00024162" "10" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Ala1099Thr)" "" "0000258885" "00024162" "10" "6423" "0" "6423" "0" "c.6423T>C" "r.(?)" "p.(Leu2141=)" "" "0000258886" "00024162" "10" "6780" "0" "6780" "0" "c.6780T>G" "r.(?)" "p.(Ala2260=)" "" "0000258887" "00024162" "10" "7119" "0" "7119" "0" "c.7119C>G" "r.(?)" "p.(Asp2373Glu)" "" "0000258888" "00024162" "10" "7517" "-7" "7517" "-7" "c.7517-7G>A" "r.(=)" "p.(=)" "" "0000261763" "00024162" "30" "1187" "0" "1187" "0" "c.1187G>C" "r.(?)" "p.(Ser396Thr)" "" "0000261764" "00024162" "10" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Phe456Leu)" "" "0000261765" "00024162" "10" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Ser490Leu)" "" "0000261766" "00024162" "30" "1611" "0" "1611" "0" "c.1611C>T" "r.(?)" "p.(Pro537=)" "" "0000261767" "00024162" "30" "2351" "0" "2351" "0" "c.2351C>T" "r.(?)" "p.(Ser784Leu)" "" "0000261768" "00024162" "30" "4120" "0" "4120" "0" "c.4120G>A" "r.(?)" "p.(Gly1374Arg)" "" "0000261769" "00024162" "30" "4224" "0" "4224" "0" "c.4224G>T" "r.(?)" "p.(Glu1408Asp)" "" "0000324253" "00024162" "30" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Pro38Leu)" "" "0000324254" "00024162" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236Ter)" "" "0000324255" "00024162" "50" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Tyr287Cys)" "" "0000324256" "00024162" "50" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "" "0000324257" "00024162" "30" "1490" "0" "1490" "0" "c.1490A>T" "r.(?)" "p.(Gln497Leu)" "" "0000324258" "00024162" "50" "1708" "0" "1708" "0" "c.1708T>C" "r.(?)" "p.(Tyr570His)" "" "0000324259" "00024162" "50" "2842" "0" "2842" "0" "c.2842G>C" "r.(?)" "p.(Ala948Pro)" "" "0000324260" "00024162" "50" "5005" "0" "5005" "0" "c.5005G>A" "r.(?)" "p.(Val1669Met)" "" "0000324261" "00024162" "30" "5147" "0" "5147" "0" "c.5147G>T" "r.(?)" "p.(Ser1716Ile)" "" "0000324262" "00024162" "90" "6673" "0" "6673" "0" "c.6673C>T" "r.(?)" "p.(Gln2225Ter)" "" "0000324263" "00024162" "50" "6688" "0" "6688" "0" "c.6688G>T" "r.(?)" "p.(Ala2230Ser)" "" "0000340530" "00024162" "10" "204" "0" "204" "0" "c.204A>C" "r.(?)" "p.(Pro68=)" "" "0000340532" "00024162" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Asp194=)" "" "0000340533" "00024162" "10" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Val407=)" "" "0000340534" "00024162" "10" "1575" "0" "1575" "0" "c.1575C>T" "r.(?)" "p.(Asp525=)" "" "0000340535" "00024162" "10" "7083" "0" "7083" "0" "c.7083C>T" "r.(?)" "p.(Pro2361=)" "" "0000340536" "00024162" "30" "7410" "0" "7410" "0" "c.7410C>T" "r.(?)" "p.(Ser2470=)" "" "0000341532" "00024162" "30" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Ala628Thr)" "" "0000341548" "00024162" "30" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Ala67Thr)" "" "0000342509" "00024162" "10" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" "" "0000343136" "00024162" "30" "1753" "0" "1753" "0" "c.1753C>A" "r.(?)" "p.(Arg585Ser)" "" "0000343811" "00024162" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "" "0000343866" "00024162" "10" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Asp102Glu)" "" "0000344008" "00024162" "10" "7119" "0" "7119" "0" "c.7119C>G" "r.(?)" "p.(Asp2373Glu)" "" "0000344049" "00024162" "70" "912" "0" "912" "0" "c.912C>A" "r.(?)" "p.(Asp304Glu)" "" "0000344684" "00024162" "90" "7090" "0" "7090" "0" "c.7090C>T" "r.(?)" "p.(Gln2364Ter)" "" "0000344700" "00024162" "10" "7499" "0" "7499" "0" "c.7499A>G" "r.(?)" "p.(Gln2500Arg)" "" "0000345806" "00024162" "50" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Gly1807Arg)" "" "0000346717" "00024162" "10" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Ile404Val)" "" "0000348051" "00024162" "10" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Phe456Leu)" "" "0000348466" "00024162" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Pro472Leu)" "" "0000348614" "00024162" "10" "2737" "0" "2737" "0" "c.2737C>A" "r.(?)" "p.(Pro913Thr)" "" "0000348776" "00024162" "30" "5147" "0" "5147" "0" "c.5147G>T" "r.(?)" "p.(Ser1716Ile)" "" "0000349052" "00024162" "10" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Ser490Leu)" "" "0000349214" "00024162" "10" "2815" "0" "2815" "0" "c.2815T>A" "r.(?)" "p.(Ser939Thr)" "" "0000349306" "00024162" "10" "4864" "0" "4864" "0" "c.4864A>G" "r.(?)" "p.(Thr1622Ala)" "" "0000350130" "00024162" "90" "1608" "0" "1608" "0" "c.1608C>A" "r.(?)" "p.(Tyr536Ter)" "" "0000350374" "00024162" "10" "5800" "0" "5800" "0" "c.5800G>C" "r.(?)" "p.(Val1934Leu)" "" "0000351418" "00024162" "30" "7516" "1" "7516" "1" "c.7516+1G>A" "r.spl?" "p.?" "" "0000555810" "00024162" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Thr2Ile)" "" "0000555811" "00024162" "30" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(Ser28=)" "" "0000555812" "00024162" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Thr62=)" "" "0000555813" "00024162" "50" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Ala67Thr)" "" "0000555814" "00024162" "30" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Ala67Thr)" "" "0000555815" "00024162" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Cys)" "" "0000555816" "00024162" "30" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77His)" "" "0000555817" "00024162" "10" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77His)" "" "0000555818" "00024162" "30" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Asp102Glu)" "" "0000555819" "00024162" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" "0000555820" "00024162" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "" "0000555821" "00024162" "10" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(Leu146=)" "" "0000555822" "00024162" "30" "454" "12" "454" "12" "c.454+12C>G" "r.(=)" "p.(=)" "" "0000555823" "00024162" "50" "455" "-17" "455" "-17" "c.455-17G>A" "r.(=)" "p.(=)" "" "0000555824" "00024162" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Gly152=)" "" "0000555825" "00024162" "70" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Thr232Met)" "" "0000555827" "00024162" "70" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Ala248Thr)" "" "0000555828" "00024162" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" "0000555829" "00024162" "30" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Ala299Thr)" "" "0000555830" "00024162" "50" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Arg305Cys)" "" "0000555831" "00024162" "50" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Pro338Leu)" "" "0000555832" "00024162" "50" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Ser342Pro)" "" "0000555833" "00024162" "10" "1051" "9" "1051" "9" "c.1051+9C>T" "r.(=)" "p.(=)" "" "0000555834" "00024162" "10" "1051" "9" "1051" "9" "c.1051+9C>T" "r.(=)" "p.(=)" "" "0000555835" "00024162" "10" "1051" "10" "1051" "10" "c.1051+10G>A" "r.(=)" "p.(=)" "" "0000555836" "00024162" "30" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Ile404Val)" "" "0000555837" "00024162" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Val407=)" "" "0000555838" "00024162" "30" "1236" "0" "1236" "0" "c.1236G>A" "r.(?)" "p.(Leu412=)" "" "0000555839" "00024162" "30" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Phe456Leu)" "" "0000555840" "00024162" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Thr466=)" "" "0000555841" "00024162" "30" "1430" "-3" "1430" "-3" "c.1430-3C>T" "r.spl?" "p.?" "" "0000555842" "00024162" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Val479Ile)" "" "0000555843" "00024162" "30" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Arg483Cys)" "" "0000555844" "00024162" "50" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000555845" "00024162" "30" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Ser490Leu)" "" "0000555846" "00024162" "30" "1476" "0" "1476" "0" "c.1476C>G" "r.(?)" "p.(Thr492=)" "" "0000555847" "00024162" "30" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Cys)" "" "0000555848" "00024162" "50" "1507" "0" "1507" "0" "c.1507A>T" "r.(?)" "p.(Thr503Ser)" "" "0000555849" "00024162" "30" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Ala505=)" "" "0000555850" "00024162" "30" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Pro510=)" "" "0000555851" "00024162" "90" "1608" "0" "1608" "0" "c.1608C>A" "r.(?)" "p.(Tyr536Ter)" "" "0000555852" "00024162" "50" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Asp568Asn)" "" "0000555853" "00024162" "30" "1719" "0" "1719" "0" "c.1719A>G" "r.(?)" "p.(Val573=)" "" "0000555854" "00024162" "30" "1753" "0" "1753" "0" "c.1753C>A" "r.(?)" "p.(Arg585Ser)" "" "0000555855" "00024162" "50" "1823" "0" "1823" "0" "c.1823C>T" "r.(?)" "p.(Thr608Met)" "" "0000555856" "00024162" "30" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617His)" "" "0000555857" "00024162" "30" "1866" "0" "1866" "0" "c.1866C>T" "r.(?)" "p.(Cys622=)" "" "0000555858" "00024162" "30" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Ala628Thr)" "" "0000555859" "00024162" "50" "1947" "0" "1947" "0" "c.1947C>T" "r.(?)" "p.(Gly649=)" "" "0000555860" "00024162" "30" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Tyr656=)" "" "0000555861" "00024162" "30" "1971" "0" "1971" "0" "c.1971T>C" "r.(?)" "p.(Pro657=)" "" "0000555862" "00024162" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "" "0000555863" "00024162" "50" "1975" "0" "1975" "0" "c.1975C>G" "r.(?)" "p.(Gln659Glu)" "" "0000555864" "00024162" "50" "1978" "0" "1978" "0" "c.1978A>G" "r.(?)" "p.(Thr660Ala)" "" "0000555865" "00024162" "10" "2003" "0" "2003" "0" "c.2003G>A" "r.(?)" "p.(Arg668Gln)" "" "0000555866" "00024162" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000555867" "00024162" "30" "2026" "8" "2026" "8" "c.2026+8G>C" "r.(=)" "p.(=)" "" "0000555868" "00024162" "30" "2037" "0" "2037" "0" "c.2037G>A" "r.(?)" "p.(Ala679=)" "" "0000555869" "00024162" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Thr703=)" "" "0000555870" "00024162" "30" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Gly708Ser)" "" "0000555871" "00024162" "50" "2203" "0" "2203" "0" "c.2203G>A" "r.(?)" "p.(Glu735Lys)" "" "0000555872" "00024162" "30" "2247" "0" "2247" "0" "c.2247G>A" "r.(?)" "p.(Val749=)" "" "0000555873" "00024162" "30" "2390" "0" "2390" "0" "c.2390A>G" "r.(?)" "p.(Glu797Gly)" "" "0000555874" "00024162" "50" "2420" "0" "2420" "0" "c.2420C>G" "r.(?)" "p.(Pro807Arg)" "" "0000555875" "00024162" "30" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Leu817Pro)" "" "0000555877" "00024162" "30" "2541" "0" "2541" "0" "c.2541C>T" "r.(?)" "p.(Pro847=)" "" "0000555878" "00024162" "30" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Val848Met)" "" "0000555879" "00024162" "90" "2770" "0" "2770" "0" "c.2770G>T" "r.(?)" "p.(Glu924Ter)" "" "0000555880" "00024162" "50" "2777" "0" "2777" "0" "c.2777T>A" "r.(?)" "p.(Ile926Asn)" "" "0000555881" "00024162" "30" "2836" "0" "2836" "0" "c.2836G>A" "r.(?)" "p.(Gly946Ser)" "" "0000555882" "00024162" "10" "2836" "0" "2892" "0" "c.2836_2892del" "r.(?)" "p.(Gly946_Glu964del)" "" "0000555883" "00024162" "30" "2837" "0" "2837" "0" "c.2837G>C" "r.(?)" "p.(Gly946Ala)" "" "0000555885" "00024162" "30" "2896" "0" "2896" "0" "c.2896T>A" "r.(?)" "p.(Ser966Thr)" "" "0000555886" "00024162" "30" "2922" "0" "2922" "0" "c.2922T>C" "r.(?)" "p.(Ser974=)" "" "0000555887" "00024162" "30" "3009" "0" "3009" "0" "c.3009C>A" "r.(?)" "p.(Thr1003=)" "" "0000555888" "00024162" "10" "3010" "0" "3010" "0" "c.3010A>G" "r.(?)" "p.(Thr1004Ala)" "" "0000555889" "00024162" "30" "3015" "0" "3015" "0" "c.3015C>T" "r.(?)" "p.(Ala1005=)" "" "0000555891" "00024162" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Thr1098=)" "" "0000555892" "00024162" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Thr1098=)" "" "0000555893" "00024162" "50" "4093" "0" "4093" "0" "c.4093G>A" "r.(?)" "p.(Ala1365Thr)" "" "0000555894" "00024162" "50" "4111" "0" "4111" "0" "c.4111G>C" "r.(?)" "p.(Asp1371His)" "" "0000555895" "00024162" "50" "4113" "0" "4113" "0" "c.4113C>G" "r.(?)" "p.(Asp1371Glu)" "" "0000555896" "00024162" "30" "4120" "0" "4120" "0" "c.4120G>A" "r.(?)" "p.(Gly1374Arg)" "" "0000555898" "00024162" "30" "4168" "0" "4168" "0" "c.4168G>A" "r.(?)" "p.(Asp1390Asn)" "" "0000555899" "00024162" "30" "4170" "0" "4170" "0" "c.4170C>G" "r.(?)" "p.(Asp1390Glu)" "" "0000555900" "00024162" "30" "4170" "0" "4226" "0" "c.4170_4226del" "r.(?)" "p.(Asp1390_Glu1408del)" "" "0000555901" "00024162" "10" "4207" "0" "4207" "0" "c.4207A>G" "r.(?)" "p.(Thr1403Ala)" "" "0000555902" "00024162" "30" "4207" "0" "4207" "0" "c.4207A>T" "r.(?)" "p.(Thr1403Ser)" "" "0000555903" "00024162" "30" "4207" "0" "4207" "0" "c.4207A>T" "r.(?)" "p.(Thr1403Ser)" "" "0000555904" "00024162" "50" "4227" "0" "4227" "0" "c.4227G>C" "r.(?)" "p.(Glu1409Asp)" "" "0000555905" "00024162" "30" "4264" "0" "4264" "0" "c.4264A>G" "r.(?)" "p.(Thr1422Ala)" "" "0000555906" "00024162" "30" "4281" "0" "4281" "0" "c.4281T>G" "r.(?)" "p.(Asp1427Glu)" "" "0000555907" "00024162" "10" "4290" "0" "4290" "0" "c.4290T>C" "r.(?)" "p.(Ser1430=)" "" "0000555909" "00024162" "30" "4429" "0" "4429" "0" "c.4429C>G" "r.(?)" "p.(Leu1477Val)" "" "0000555911" "00024162" "30" "4525" "0" "4525" "0" "c.4525C>T" "r.(?)" "p.(Leu1509Phe)" "" "0000555912" "00024162" "30" "4546" "0" "4546" "0" "c.4546G>C" "r.(?)" "p.(Glu1516Gln)" "" "0000555913" "00024162" "90" "4700" "0" "4700" "0" "c.4700del" "r.(?)" "p.(Ser1567MetfsTer10)" "" "0000555914" "00024162" "10" "4864" "0" "4864" "0" "c.4864A>G" "r.(?)" "p.(Thr1622Ala)" "" "0000555915" "00024162" "30" "5353" "0" "5353" "0" "c.5353C>G" "r.(?)" "p.(Leu1785Val)" "" "0000555916" "00024162" "30" "5368" "0" "5368" "0" "c.5368T>A" "r.(?)" "p.(Ser1790Thr)" "" "0000555917" "00024162" "30" "5368" "0" "5368" "0" "c.5368T>A" "r.(?)" "p.(Ser1790Thr)" "" "0000555918" "00024162" "30" "5382" "0" "5382" "0" "c.5382T>C" "r.(?)" "p.(Asp1794=)" "" "0000555920" "00024162" "50" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Gly1807Arg)" "" "0000555921" "00024162" "30" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(Thr1820=)" "" "0000555922" "00024162" "30" "5546" "0" "5546" "0" "c.5546G>T" "r.(?)" "p.(Gly1849Val)" "" "0000555923" "00024162" "30" "5563" "0" "5563" "0" "c.5563C>T" "r.(?)" "p.(Leu1855Phe)" "" "0000555924" "00024162" "50" "5567" "0" "5567" "0" "c.5567G>A" "r.(?)" "p.(Ser1856Asn)" "" "0000555925" "00024162" "10" "5799" "0" "5799" "0" "c.5799T>G" "r.(?)" "p.(Thr1933=)" "" "0000555926" "00024162" "30" "5800" "0" "5800" "0" "c.5800G>C" "r.(?)" "p.(Val1934Leu)" "" "0000555927" "00024162" "30" "5967" "0" "5967" "0" "c.5967C>T" "r.(?)" "p.(Ser1989=)" "" "0000555928" "00024162" "30" "5998" "0" "5998" "0" "c.5998G>A" "r.(?)" "p.(Gly2000Ser)" "" "0000555929" "00024162" "30" "6009" "0" "6009" "0" "c.6009T>C" "r.(?)" "p.(Tyr2003=)" "" "0000555930" "00024162" "10" "6009" "0" "6009" "0" "c.6009T>C" "r.(?)" "p.(Tyr2003=)" "" "0000555931" "00024162" "50" "6113" "0" "6113" "0" "c.6113C>T" "r.(?)" "p.(Thr2038Ile)" "" "0000555932" "00024162" "50" "6113" "0" "6113" "0" "c.6113C>T" "r.(?)" "p.(Thr2038Ile)" "" "0000555933" "00024162" "50" "6142" "0" "6142" "0" "c.6142C>G" "r.(?)" "p.(Pro2048Ala)" "" "0000555934" "00024162" "30" "6173" "0" "6173" "0" "c.6173C>T" "r.(?)" "p.(Pro2058Leu)" "" "0000555935" "00024162" "30" "6279" "0" "6279" "0" "c.6279A>G" "r.(?)" "p.(Val2093=)" "" "0000555936" "00024162" "10" "6360" "0" "6360" "0" "c.6360C>G" "r.(?)" "p.(Ser2120Arg)" "" "0000555937" "00024162" "30" "6411" "0" "6411" "0" "c.6411C>T" "r.(?)" "p.(His2137=)" "" "0000555938" "00024162" "30" "6412" "0" "6412" "0" "c.6412G>A" "r.(?)" "p.(Glu2138Lys)" "" "0000555939" "00024162" "50" "6424" "0" "6424" "0" "c.6424G>A" "r.(?)" "p.(Glu2142Lys)" "" "0000555940" "00024162" "30" "6450" "0" "6450" "0" "c.6450C>T" "r.(?)" "p.(Ser2150=)" "" "0000555941" "00024162" "10" "6506" "0" "6506" "0" "c.6506G>A" "r.(?)" "p.(Gly2169Glu)" "" "0000555942" "00024162" "30" "6530" "0" "6530" "0" "c.6530T>C" "r.(?)" "p.(Val2177Ala)" "" "0000555943" "00024162" "30" "6570" "0" "6570" "0" "c.6570G>T" "r.(?)" "p.(Thr2190=)" "" "0000555944" "00024162" "30" "6571" "0" "6571" "0" "c.6571G>T" "r.(?)" "p.(Ala2191Ser)" "" "0000555945" "00024162" "30" "6577" "0" "6577" "0" "c.6577G>A" "r.(?)" "p.(Gly2193Arg)" "" "0000555946" "00024162" "30" "6838" "0" "6838" "0" "c.6838G>A" "r.(?)" "p.(Ala2280Thr)" "" "0000555947" "00024162" "30" "6946" "18" "6946" "18" "c.6946+18C>T" "r.(=)" "p.(=)" "" "0000555948" "00024162" "50" "6970" "0" "6970" "0" "c.6970T>C" "r.(?)" "p.(Trp2324Arg)" "" "0000555949" "00024162" "30" "6978" "0" "6978" "0" "c.6978G>A" "r.(?)" "p.(Lys2326=)" "" "0000555950" "00024162" "90" "6982" "0" "6982" "0" "c.6982C>T" "r.(?)" "p.(Gln2328Ter)" "" "0000555951" "00024162" "50" "7009" "0" "7009" "0" "c.7009G>C" "r.(?)" "p.(Asp2337His)" "" "0000555952" "00024162" "30" "7012" "0" "7012" "0" "c.7012C>T" "r.(?)" "p.(Arg2338Cys)" "" "0000555953" "00024162" "30" "7014" "0" "7014" "0" "c.7014C>T" "r.(?)" "p.(Arg2338=)" "" "0000555954" "00024162" "30" "7040" "0" "7040" "0" "c.7040G>A" "r.(?)" "p.(Arg2347Gln)" "" "0000555955" "00024162" "50" "7083" "0" "7083" "0" "c.7083C>A" "r.(?)" "p.(Pro2361=)" "" "0000555956" "00024162" "10" "7083" "0" "7083" "0" "c.7083C>T" "r.(?)" "p.(Pro2361=)" "" "0000555957" "00024162" "30" "7266" "0" "7266" "0" "c.7266C>T" "r.(?)" "p.(His2422=)" "" "0000555958" "00024162" "50" "7275" "0" "7275" "0" "c.7275C>T" "r.(?)" "p.(Gly2425=)" "" "0000555959" "00024162" "30" "7341" "0" "7341" "0" "c.7341C>T" "r.(?)" "p.(Cys2447=)" "" "0000555960" "00024162" "50" "7394" "0" "7394" "0" "c.7394G>A" "r.(?)" "p.(Arg2465Gln)" "" "0000555961" "00024162" "30" "7410" "0" "7410" "0" "c.7410C>T" "r.(?)" "p.(Ser2470=)" "" "0000555962" "00024162" "70" "7488" "0" "7488" "0" "c.7488G>A" "r.(?)" "p.(Trp2496Ter)" "" "0000555963" "00024162" "30" "7516" "0" "7516" "0" "c.7516C>T" "r.(?)" "p.(Pro2506Ser)" "" "0000555964" "00024162" "50" "12201" "0" "12201" "0" "c.*4608G>A" "r.(=)" "p.(=)" "" "0000555965" "00024162" "30" "12267" "0" "12267" "0" "c.*4674C>T" "r.(=)" "p.(=)" "" "0000592079" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592093" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592590" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592591" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592592" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592593" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592594" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592595" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000592596" "00024162" "90" "7007" "0" "7007" "0" "c.7007dup" "r.(?)" "p.(Asp2337Glyfs*9)" "14" "0000615602" "00024162" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Cys)" "" "0000615603" "00024162" "70" "454" "1" "454" "1" "c.454+1G>A" "r.spl?" "p.?" "" "0000615604" "00024162" "90" "1526" "0" "1526" "0" "c.1526C>A" "r.(?)" "p.(Ser509Ter)" "" "0000615605" "00024162" "30" "4170" "0" "4226" "0" "c.4170_4226dup" "r.(?)" "p.(Asp1390_Glu1408dup)" "" "0000615606" "00024162" "50" "5717" "0" "5717" "0" "c.5717G>C" "r.(?)" "p.(Gly1906Ala)" "" "0000615607" "00024162" "50" "6959" "0" "6959" "0" "c.6959G>A" "r.(?)" "p.(Cys2320Tyr)" "" "0000615608" "00024162" "50" "7294" "0" "7294" "0" "c.7294T>G" "r.(?)" "p.(Cys2432Gly)" "" "0000657687" "00024162" "30" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Leu2209=)" "" "0000680327" "00024162" "50" "1708" "0" "1708" "0" "c.1708T>C" "r.(?)" "p.(Tyr570His)" "" "0000680328" "00024162" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Ile)" "" "0000680329" "00024162" "30" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(Thr1820=)" "" "0000680330" "00024162" "30" "6946" "18" "6946" "18" "c.6946+18C>A" "r.(=)" "p.(=)" "" "0000691894" "00024162" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "" "0000691895" "00024162" "30" "6621" "0" "6621" "0" "c.6621G>A" "r.(?)" "p.(Ser2207=)" "" "0000704147" "00024162" "90" "6534" "0" "6534" "0" "c.6534del" "r.(?)" "p.(Thr2179Glnfs*56)" "" "0000725349" "00024162" "70" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Ala183Thr)" "" "0000725350" "00024162" "50" "905" "0" "905" "0" "c.905T>C" "r.(?)" "p.(Leu302Pro)" "" "0000725351" "00024162" "30" "4405" "0" "4405" "0" "c.4405G>C" "r.(?)" "p.(Gly1469Arg)" "" "0000725352" "00024162" "30" "6796" "0" "6796" "0" "c.6796C>T" "r.(?)" "p.(Pro2266Ser)" "" "0000725353" "00024162" "50" "6959" "0" "6959" "0" "c.6959G>A" "r.(?)" "p.(Cys2320Tyr)" "" "0000725354" "00024162" "50" "7573" "0" "7573" "0" "c.7573C>T" "r.(?)" "p.(Arg2525Cys)" "" "0000787988" "00024162" "90" "1090" "0" "1090" "0" "c.1090dup" "r.(?)" "p.(Val364Glyfs*4)" "" "0000787989" "00024162" "90" "7168" "0" "7168" "0" "c.7168T>G" "r.(?)" "p.(Trp2390Gly)" "" "0000787990" "00024162" "70" "2947" "0" "2947" "0" "c.2947G>C" "r.(?)" "p.(Glu983Gln)" "" "0000806982" "00024162" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236Gln)" "" "0000806983" "00024162" "50" "1507" "0" "1507" "0" "c.1507A>T" "r.(?)" "p.(Thr503Ser)" "" "0000806984" "00024162" "50" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Cys)" "" "0000806985" "00024162" "50" "1971" "0" "1971" "0" "c.1971T>C" "r.(?)" "p.(Pro657=)" "" "0000806986" "00024162" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "" "0000806987" "00024162" "90" "2882" "0" "2885" "0" "c.2882_2885del" "r.(?)" "p.(Glu961Valfs*2)" "" "0000806988" "00024162" "50" "2989" "0" "2989" "0" "c.2989T>G" "r.(?)" "p.(Ser997Ala)" "" "0000806989" "00024162" "30" "4600" "0" "4600" "0" "c.4600G>C" "r.(?)" "p.(Val1534Leu)" "" "0000806990" "00024162" "90" "5539" "0" "5539" "0" "c.5539G>T" "r.(?)" "p.(Glu1847*)" "" "0000806991" "00024162" "70" "6381" "0" "6381" "0" "c.6381del" "r.(?)" "p.(Asp2128Ilefs*2)" "" "0000854226" "00024162" "90" "986" "0" "986" "0" "c.986dup" "r.(?)" "p.(Tyr329*)" "" "0000854227" "00024162" "30" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Leu817Pro)" "" "0000854228" "00024162" "50" "4525" "0" "4525" "0" "c.4525C>T" "r.(?)" "p.(Leu1509Phe)" "" "0000854229" "00024162" "30" "5931" "0" "5931" "0" "c.5931G>T" "r.(?)" "p.(Glu1977Asp)" "" "0000863994" "00024162" "50" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Val9Met)" "" "0000863995" "00024162" "30" "70" "13" "70" "13" "c.70+13C>T" "r.(=)" "p.(=)" "" "0000863996" "00024162" "30" "75" "0" "75" "0" "c.75T>A" "r.(?)" "p.(His25Gln)" "" "0000863997" "00024162" "50" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Gly44Arg)" "" "0000863998" "00024162" "50" "185" "0" "185" "0" "c.185C>A" "r.(?)" "p.(Thr62Asn)" "" "0000863999" "00024162" "30" "204" "0" "204" "0" "c.204A>C" "r.(?)" "p.(Pro68=)" "" "0000864000" "00024162" "50" "205" "0" "205" "0" "c.205C>A" "r.(?)" "p.(Leu69Met)" "" "0000864001" "00024162" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Met)" "" "0000864002" "00024162" "50" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Pro110=)" "" "0000864003" "00024162" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "" "0000864004" "00024162" "30" "444" "0" "444" "0" "c.444C>A" "r.(?)" "p.(Val148=)" "" "0000864005" "00024162" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Val148=)" "" "0000864006" "00024162" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163His)" "" "0000864007" "00024162" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Tyr164=)" "" "0000864008" "00024162" "30" "519" "0" "519" "0" "c.519G>T" "r.(?)" "p.(Arg173=)" "" "0000864009" "00024162" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Ala180Val)" "" "0000864010" "00024162" "30" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Thr184=)" "" "0000864011" "00024162" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Asp194=)" "" "0000864012" "00024162" "50" "634" "0" "634" "0" "c.634C>G" "r.(?)" "p.(Pro212Ala)" "" "0000864013" "00024162" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "" "0000864014" "00024162" "30" "703" "0" "703" "0" "c.703A>T" "r.(?)" "p.(Ile235Phe)" "" "0000864015" "00024162" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Ala248=)" "" "0000864016" "00024162" "30" "757" "17" "757" "17" "c.757+17A>G" "r.(=)" "p.(=)" "" "0000864017" "00024162" "30" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "" "0000864018" "00024162" "30" "825" "0" "825" "0" "c.825G>A" "r.(?)" "p.(Arg275=)" "" "0000864019" "00024162" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Ala289=)" "" "0000864020" "00024162" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Gly300Ser)" "" "0000864021" "00024162" "50" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Trp)" "" "0000864022" "00024162" "50" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Val328Ile)" "" "0000864023" "00024162" "30" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Thr335=)" "" "0000864024" "00024162" "50" "1051" "2" "1051" "2" "c.1051+2T>C" "r.spl?" "p.?" "" "0000864025" "00024162" "50" "1051" "19" "1051" "19" "c.1051+19T>G" "r.(=)" "p.(=)" "" "0000864026" "00024162" "30" "1113" "0" "1113" "0" "c.1113C>G" "r.(?)" "p.(Thr371=)" "" "0000864027" "00024162" "30" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Ile)" "" "0000864028" "00024162" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Ser396=)" "" "0000864029" "00024162" "30" "1235" "0" "1235" "0" "c.1235T>A" "r.(?)" "p.(Leu412Gln)" "" "0000864030" "00024162" "30" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(Phe429=)" "" "0000864031" "00024162" "30" "1295" "0" "1295" "0" "c.1295T>C" "r.(?)" "p.(Val432Ala)" "" "0000864032" "00024162" "30" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Thr454Met)" "" "0000864033" "00024162" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Pro472Leu)" "" "0000864034" "00024162" "30" "1430" "-20" "1430" "-20" "c.1430-20G>A" "r.(=)" "p.(=)" "" "0000864035" "00024162" "30" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Val478Phe)" "" "0000864036" "00024162" "50" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Pro484Leu)" "" "0000864037" "00024162" "30" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Pro486Ser)" "" "0000864038" "00024162" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000864039" "00024162" "50" "1505" "0" "1505" "0" "c.1505G>C" "r.(?)" "p.(Arg502Pro)" "" "0000864040" "00024162" "50" "1507" "0" "1507" "0" "c.1507A>T" "r.(?)" "p.(Thr503Ser)" "" "0000864041" "00024162" "50" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Ser509Leu)" "" "0000864042" "00024162" "50" "1562" "0" "1562" "0" "c.1562A>G" "r.(?)" "p.(Tyr521Cys)" "" "0000864043" "00024162" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Glu522Lys)" "" "0000864044" "00024162" "30" "1575" "0" "1575" "0" "c.1575C>T" "r.(?)" "p.(Asp525=)" "" "0000864045" "00024162" "30" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ala526=)" "" "0000864046" "00024162" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Ile)" "" "0000864047" "00024162" "50" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Asp548Asn)" "" "0000864048" "00024162" "30" "1916" "0" "1916" "0" "c.1916C>T" "r.(?)" "p.(Pro639Leu)" "" "0000864049" "00024162" "30" "1929" "0" "1929" "0" "c.1929C>T" "r.(?)" "p.(Cys643=)" "" "0000864050" "00024162" "30" "1956" "0" "1956" "0" "c.1956G>A" "r.(?)" "p.(Thr652=)" "" "0000864051" "00024162" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Ter)" "" "0000864052" "00024162" "30" "2026" "18" "2026" "18" "c.2026+18G>A" "r.(=)" "p.(=)" "" "0000864053" "00024162" "70" "2218" "0" "2218" "0" "c.2218A>T" "r.(?)" "p.(Thr740Ser)" "" "0000864054" "00024162" "30" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "" "0000864055" "00024162" "50" "2416" "0" "2416" "0" "c.2416T>C" "r.(?)" "p.(Phe806Leu)" "" "0000864056" "00024162" "50" "2439" "0" "2439" "0" "c.2439C>A" "r.(?)" "p.(Pro813=)" "" "0000864057" "00024162" "30" "2523" "0" "2523" "0" "c.2523G>A" "r.(?)" "p.(Pro841=)" "" "0000864058" "00024162" "30" "2541" "0" "2541" "0" "c.2541C>T" "r.(?)" "p.(Pro847=)" "" "0000864059" "00024162" "30" "2548" "0" "2548" "0" "c.2548A>G" "r.(?)" "p.(Ser850Gly)" "" "0000864060" "00024162" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Gly858Arg)" "" "0000864061" "00024162" "70" "2638" "0" "2638" "0" "c.2638del" "r.(?)" "p.(Asp881Thrfs*64)" "" "0000864062" "00024162" "30" "2709" "0" "2709" "0" "c.2709T>A" "r.(?)" "p.(Gly903=)" "" "0000864063" "00024162" "30" "2727" "0" "2727" "0" "c.2727C>T" "r.(?)" "p.(Gly909=)" "" "0000864064" "00024162" "50" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Pro929Leu)" "" "0000864065" "00024162" "30" "2842" "0" "2842" "0" "c.2842G>T" "r.(?)" "p.(Ala948Ser)" "" "0000864066" "00024162" "30" "2843" "0" "2843" "0" "c.2843C>T" "r.(?)" "p.(Ala948Val)" "" "0000864067" "00024162" "50" "2952" "0" "2952" "0" "c.2952C>T" "r.(?)" "p.(Thr984=)" "" "0000864068" "00024162" "30" "2953" "0" "2953" "0" "c.2953A>G" "r.(?)" "p.(Thr985Ala)" "" "0000864069" "00024162" "50" "2979" "0" "2979" "0" "c.2979C>A" "r.(?)" "p.(Ser993Arg)" "" "0000864070" "00024162" "50" "2997" "0" "2997" "0" "c.2997A>T" "r.(?)" "p.(Glu999Asp)" "" "0000864071" "00024162" "30" "2999" "0" "2999" "0" "c.2999T>C" "r.(?)" "p.(Val1000Ala)" "" "0000864072" "00024162" "50" "3003" "0" "3003" "0" "c.3003A>C" "r.(?)" "p.(Leu1001=)" "" "0000864073" "00024162" "50" "3008" "0" "3008" "0" "c.3008C>T" "r.(?)" "p.(Thr1003Ile)" "" "0000864074" "00024162" "50" "3010" "0" "3010" "0" "c.3010A>C" "r.(?)" "p.(Thr1004Pro)" "" "0000864075" "00024162" "50" "3023" "0" "3023" "0" "c.3023T>C" "r.(?)" "p.(Val1008Ala)" "" "0000864076" "00024162" "50" "3066" "0" "3066" "0" "c.3066C>T" "r.(?)" "p.(Thr1022=)" "" "0000864077" "00024162" "30" "3180" "0" "3180" "0" "c.3180C>T" "r.(?)" "p.(Thr1060=)" "" "0000864078" "00024162" "30" "3237" "0" "3237" "0" "c.3237C>T" "r.(?)" "p.(Thr1079=)" "" "0000864079" "00024162" "30" "4150" "0" "4150" "0" "c.4150G>A" "r.(?)" "p.(Ala1384Thr)" "" "0000864080" "00024162" "50" "4207" "0" "4377" "0" "c.4207_4377del" "r.(?)" "p.(Thr1403_Thr1459del)" "" "0000864081" "00024162" "50" "4224" "0" "4224" "0" "c.4224G>T" "r.(?)" "p.(Glu1408Asp)" "" "0000864082" "00024162" "30" "4224" "0" "4280" "0" "c.4224_4280del" "r.(?)" "p.(Glu1408_Val1426del)" "" "0000864083" "00024162" "50" "4264" "0" "4377" "0" "c.4264_4377del" "r.(?)" "p.(Thr1422_Thr1459del)" "" "0000864084" "00024162" "30" "4321" "0" "4321" "0" "c.4321A>G" "r.(?)" "p.(Thr1441Ala)" "" "0000864085" "00024162" "30" "4321" "0" "4321" "0" "c.4321A>G" "r.(?)" "p.(Thr1441Ala)" "" "0000864086" "00024162" "50" "4325" "0" "4329" "0" "c.4325_4329del" "r.(?)" "p.(Ala1442Glyfs*65)" "" "0000864087" "00024162" "30" "4383" "0" "4383" "0" "c.4383C>T" "r.(?)" "p.(Thr1461=)" "" "0000864088" "00024162" "70" "4573" "0" "4573" "0" "c.4573del" "r.(?)" "p.(Leu1525Serfs*11)" "" "0000864089" "00024162" "30" "4639" "0" "4639" "0" "c.4639G>A" "r.(?)" "p.(Gly1547Arg)" "" "0000864090" "00024162" "30" "4694" "0" "4714" "0" "c.4694_4714del" "r.(?)" "p.(Asp1565_Ser1571del)" "" "0000864091" "00024162" "30" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Asp1585=)" "" "0000864092" "00024162" "30" "4974" "0" "4974" "0" "c.4974T>C" "r.(?)" "p.(Thr1658=)" "" "0000864093" "00024162" "30" "5165" "0" "5165" "0" "c.5165C>G" "r.(?)" "p.(Ser1722Cys)" "" "0000864094" "00024162" "70" "5219" "0" "5219" "0" "c.5219C>A" "r.(?)" "p.(Ser1740*)" "" "0000864095" "00024162" "50" "5269" "0" "5269" "0" "c.5269G>A" "r.(?)" "p.(Gly1757Arg)" "" "0000864096" "00024162" "30" "5317" "0" "5317" "0" "c.5317C>A" "r.(?)" "p.(Leu1773Ile)" "" "0000864097" "00024162" "30" "5318" "0" "5318" "0" "c.5318T>C" "r.(?)" "p.(Leu1773Pro)" "" "0000864098" "00024162" "70" "5344" "0" "5344" "0" "c.5344dup" "r.(?)" "p.(Ile1782Asnfs*3)" "" "0000864099" "00024162" "50" "5494" "0" "5494" "0" "c.5494G>A" "r.(?)" "p.(Val1832Met)" "" "0000864100" "00024162" "70" "5518" "0" "5519" "0" "c.5518_5519del" "r.(?)" "p.(Ala1840Profs*5)" "" "0000864101" "00024162" "50" "5520" "0" "5520" "0" "c.5520C>T" "r.(?)" "p.(Ala1840=)" "" "0000864102" "00024162" "70" "5539" "0" "5539" "0" "c.5539G>T" "r.(?)" "p.(Glu1847*)" "" "0000864103" "00024162" "50" "5744" "0" "5744" "0" "c.5744G>C" "r.(?)" "p.(Ser1915Thr)" "" "0000864104" "00024162" "30" "5745" "0" "5745" "0" "c.5745C>T" "r.(?)" "p.(Ser1915=)" "" "0000864105" "00024162" "50" "5756" "0" "5756" "0" "c.5756C>T" "r.(?)" "p.(Ser1919Leu)" "" "0000864106" "00024162" "30" "5778" "0" "5778" "0" "c.5778A>G" "r.(?)" "p.(Gly1926=)" "" "0000864107" "00024162" "50" "5849" "0" "5849" "0" "c.5849C>G" "r.(?)" "p.(Thr1950Arg)" "" "0000864108" "00024162" "30" "5921" "0" "5921" "0" "c.5921T>C" "r.(?)" "p.(Met1974Thr)" "" "0000864109" "00024162" "30" "5931" "0" "5931" "0" "c.5931G>T" "r.(?)" "p.(Glu1977Asp)" "" "0000864110" "00024162" "30" "5958" "0" "5958" "0" "c.5958G>T" "r.(?)" "p.(Gly1986=)" "" "0000864111" "00024162" "50" "6019" "0" "6019" "0" "c.6019G>A" "r.(?)" "p.(Asp2007Asn)" "" "0000864112" "00024162" "50" "6096" "0" "6096" "0" "c.6096A>G" "r.(?)" "p.(Pro2032=)" "" "0000864113" "00024162" "30" "6124" "0" "6124" "0" "c.6124G>A" "r.(?)" "p.(Val2042Met)" "" "0000864114" "00024162" "30" "6214" "0" "6214" "0" "c.6214A>G" "r.(?)" "p.(Lys2072Glu)" "" "0000864115" "00024162" "30" "6230" "0" "6230" "0" "c.6230G>C" "r.(?)" "p.(Gly2077Ala)" "" "0000864116" "00024162" "30" "6308" "0" "6308" "0" "c.6308C>T" "r.(?)" "p.(Thr2103Met)" "" "0000864117" "00024162" "30" "6312" "0" "6312" "0" "c.6312C>T" "r.(?)" "p.(Ser2104=)" "" "0000864118" "00024162" "30" "6330" "0" "6330" "0" "c.6330G>A" "r.(?)" "p.(Gly2110=)" "" "0000864119" "00024162" "30" "6477" "0" "6477" "0" "c.6477C>T" "r.(?)" "p.(Gly2159=)" "" "0000864120" "00024162" "50" "6589" "0" "6589" "0" "c.6589G>A" "r.(?)" "p.(Glu2197Lys)" "" "0000864121" "00024162" "50" "6649" "0" "6649" "0" "c.6649A>T" "r.(?)" "p.(Ile2217Phe)" "" "0000864122" "00024162" "30" "6693" "0" "6693" "0" "c.6693G>A" "r.(?)" "p.(Glu2231=)" "" "0000864123" "00024162" "30" "6723" "0" "6723" "0" "c.6723C>T" "r.(?)" "p.(Leu2241=)" "" "0000864124" "00024162" "30" "6780" "0" "6780" "0" "c.6780T>A" "r.(?)" "p.(Ala2260=)" "" "0000864125" "00024162" "30" "6832" "15" "6832" "15" "c.6832+15dup" "r.(=)" "p.(=)" "" "0000864126" "00024162" "30" "6833" "0" "6833" "0" "c.6833C>T" "r.(?)" "p.(Ala2278Val)" "" "0000864127" "00024162" "30" "6837" "0" "6837" "0" "c.6837C>T" "r.(?)" "p.(Pro2279=)" "" "0000864128" "00024162" "30" "6931" "0" "6931" "0" "c.6931G>A" "r.(?)" "p.(Glu2311Lys)" "" "0000864129" "00024162" "50" "6958" "0" "6958" "0" "c.6958T>C" "r.(?)" "p.(Cys2320Arg)" "" "0000864130" "00024162" "50" "7008" "0" "7008" "0" "c.7008G>A" "r.(?)" "p.(Pro2336=)" "" "0000864131" "00024162" "30" "7037" "0" "7037" "0" "c.7037G>A" "r.(?)" "p.(Arg2346His)" "" "0000864132" "00024162" "50" "7042" "0" "7047" "0" "c.7042_7047dup" "r.(?)" "p.(Cys2348_Arg2349dup)" "" "0000864133" "00024162" "30" "7075" "0" "7075" "0" "c.7075G>A" "r.(?)" "p.(Val2359Ile)" "" "0000864134" "00024162" "50" "7141" "0" "7141" "0" "c.7141G>C" "r.(?)" "p.(Asp2381His)" "" "0000864135" "00024162" "50" "7155" "0" "7155" "0" "c.7155A>C" "r.(?)" "p.(Glu2385Asp)" "" "0000864136" "00024162" "30" "7233" "0" "7233" "0" "c.7233C>T" "r.(?)" "p.(Ala2411=)" "" "0000864137" "00024162" "70" "7265" "0" "7275" "0" "c.7265_7275del" "r.(?)" "p.(His2422Argfs*4)" "" "0000864138" "00024162" "50" "7275" "0" "7275" "0" "c.7275C>T" "r.(?)" "p.(Gly2425=)" "" "0000864139" "00024162" "30" "7276" "0" "7276" "0" "c.7276G>A" "r.(?)" "p.(Glu2426Lys)" "" "0000864140" "00024162" "30" "7333" "11" "7333" "11" "c.7333+11G>A" "r.(=)" "p.(=)" "" "0000864141" "00024162" "30" "7334" "-8" "7334" "-8" "c.7334-8C>T" "r.(=)" "p.(=)" "" "0000864142" "00024162" "50" "7342" "0" "7342" "0" "c.7342G>A" "r.(?)" "p.(Gly2448Arg)" "" "0000864143" "00024162" "50" "7378" "0" "7378" "0" "c.7378G>A" "r.(?)" "p.(Gly2460Arg)" "" "0000864144" "00024162" "50" "7540" "0" "7540" "0" "c.7540C>G" "r.(?)" "p.(Gln2514Glu)" "" "0000864145" "00024162" "30" "7574" "0" "7574" "0" "c.7574G>A" "r.(?)" "p.(Arg2525His)" "" "0000892370" "00024162" "30" "72" "0" "72" "0" "c.72C>A" "r.(?)" "p.(Asp24Glu)" "" "0000892371" "00024162" "50" "75" "0" "75" "0" "c.75T>A" "r.(?)" "p.(His25Gln)" "" "0000892372" "00024162" "30" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Asp55Gly)" "" "0000892373" "00024162" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Pro56=)" "" "0000892374" "00024162" "50" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124His)" "" "0000892375" "00024162" "50" "542" "0" "542" "0" "c.542T>A" "r.(?)" "p.(Ile181Asn)" "" "0000892376" "00024162" "50" "630" "-1" "630" "-1" "c.630-1G>A" "r.spl?" "p.?" "" "0000892377" "00024162" "50" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Val307Met)" "" "0000892378" "00024162" "30" "924" "0" "924" "0" "c.924C>G" "r.(?)" "p.(Arg308=)" "" "0000892379" "00024162" "50" "1129" "0" "1129" "0" "c.1129T>C" "r.(?)" "p.(Trp377Arg)" "" "0000892380" "00024162" "50" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Gly395=)" "" "0000892381" "00024162" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Asp629=)" "" "0000892382" "00024162" "30" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Arg675Gln)" "" "0000892383" "00024162" "70" "2319" "0" "2319" "0" "c.2319del" "r.(?)" "p.(Gly774Alafs*36)" "" "0000892384" "00024162" "30" "2351" "0" "2351" "0" "c.2351C>T" "r.(?)" "p.(Ser784Leu)" "" "0000892385" "00024162" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Trp851*)" "" "0000892386" "00024162" "50" "2836" "0" "2892" "0" "c.2836_2892del" "r.(?)" "p.(Gly946_Glu964del)" "" "0000892387" "00024162" "30" "2974" "0" "2974" "0" "c.2974A>C" "r.(?)" "p.(Ile992Leu)" "" "0000892388" "00024162" "30" "4233" "0" "4233" "0" "c.4233C>T" "r.(?)" "p.(Ser1411=)" "" "0000892389" "00024162" "30" "4525" "0" "4525" "0" "c.4525C>T" "r.(?)" "p.(Leu1509Phe)" "" "0000892390" "00024162" "30" "4981" "0" "4981" "0" "c.4981C>T" "r.(?)" "p.(Leu1661=)" "" "0000892391" "00024162" "50" "5015" "0" "5015" "0" "c.5015C>T" "r.(?)" "p.(Ala1672Val)" "" "0000892392" "00024162" "50" "5486" "0" "5486" "0" "c.5486T>A" "r.(?)" "p.(Ile1829Asn)" "" "0000892393" "00024162" "50" "5540" "0" "5540" "0" "c.5540A>T" "r.(?)" "p.(Glu1847Val)" "" "0000892394" "00024162" "50" "5581" "0" "5581" "0" "c.5581G>A" "r.(?)" "p.(Gly1861Arg)" "" "0000892395" "00024162" "50" "5914" "0" "5914" "0" "c.5914C>T" "r.(?)" "p.(Pro1972Ser)" "" "0000892396" "00024162" "70" "6107" "0" "6107" "0" "c.6107T>G" "r.(?)" "p.(Leu2036*)" "" "0000892397" "00024162" "50" "6472" "0" "6472" "0" "c.6472G>A" "r.(?)" "p.(Glu2158Lys)" "" "0000892398" "00024162" "50" "6577" "0" "6577" "0" "c.6577G>A" "r.(?)" "p.(Gly2193Arg)" "" "0000892399" "00024162" "70" "6746" "0" "6767" "0" "c.6746_6767del" "r.(?)" "p.(His2249Profs*60)" "" "0000914396" "00024162" "50" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Asp55Asn)" "" "0000914397" "00024162" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Ile139=)" "" "0000914398" "00024162" "30" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000914399" "00024162" "50" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.(Ala289Asp)" "" "0000914400" "00024162" "70" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394*)" "" "0000914401" "00024162" "30" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Gly395Ser)" "" "0000914402" "00024162" "70" "1395" "0" "1411" "0" "c.1395_1411del" "r.(?)" "p.(Thr466Alafs*23)" "" "0000914403" "00024162" "50" "1567" "0" "1567" "0" "c.1567C>G" "r.(?)" "p.(Gln523Glu)" "" "0000914404" "00024162" "50" "4639" "0" "4639" "0" "c.4639G>A" "r.(?)" "p.(Gly1547Arg)" "" "0000914405" "00024162" "50" "4768" "0" "4768" "0" "c.4768C>T" "r.(?)" "p.(Pro1590Ser)" "" "0000914406" "00024162" "50" "4876" "0" "4876" "0" "c.4876C>T" "r.(?)" "p.(Pro1626Ser)" "" "0000914407" "00024162" "50" "5227" "0" "5227" "0" "c.5227C>T" "r.(?)" "p.(Pro1743Ser)" "" "0000914408" "00024162" "30" "6461" "0" "6461" "0" "c.6461T>C" "r.(?)" "p.(Leu2154Ser)" "" "0000914409" "00024162" "70" "6543" "0" "6549" "0" "c.6543_6549del" "r.(?)" "p.(Pro2182Cysfs*51)" "" "0000926065" "00024162" "30" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(His58Leu)" "" "0000926066" "00024162" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000926067" "00024162" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Asp200=)" "" "0000926068" "00024162" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Val325Met)" "" "0000926069" "00024162" "30" "1384" "0" "1384" "0" "c.1384G>T" "r.(?)" "p.(Val462Phe)" "" "0000926070" "00024162" "50" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Thr652Met)" "" "0000926071" "00024162" "30" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Ala728Thr)" "" "0000926072" "00024162" "30" "2280" "0" "2280" "0" "c.2280T>A" "r.(?)" "p.(Thr760=)" "" "0000926073" "00024162" "50" "2999" "0" "2999" "0" "c.2999T>G" "r.(?)" "p.(Val1000Gly)" "" "0000926074" "00024162" "50" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "" "0000926075" "00024162" "30" "5525" "0" "5525" "0" "c.5525C>T" "r.(?)" "p.(Thr1842Ile)" "" "0000926076" "00024162" "30" "6435" "0" "6435" "0" "c.6435T>C" "r.(?)" "p.(Ser2145=)" "" "0000926077" "00024162" "30" "6494" "0" "6494" "0" "c.6494C>T" "r.(?)" "p.(Pro2165Leu)" "" "0000926078" "00024162" "30" "6948" "0" "6948" "0" "c.6948C>T" "r.(?)" "p.(Asp2316=)" "" "0000930460" "00024162" "30" "1684" "0" "1684" "0" "c.1684C>G" "r.(?)" "p.(Pro562Ala)" "" "0000930461" "00024162" "30" "2259" "0" "2259" "0" "c.2259G>A" "r.(?)" "p.(=)" "" "0000930462" "00024162" "50" "2266" "5" "2266" "5" "c.2266+5G>T" "r.spl?" "p.?" "" "0000930463" "00024162" "30" "2512" "0" "2512" "0" "c.2512T>G" "r.(?)" "p.(Ser838Ala)" "" "0000930464" "00024162" "30" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Glu924Lys)" "" "0000930465" "00024162" "50" "4264" "0" "4377" "0" "c.4264_4377del" "r.(?)" "p.(Thr1422_Thr1459del)" "" "0000930466" "00024162" "30" "5646" "0" "5646" "0" "c.5646C>T" "r.(?)" "p.(=)" "" "0000930467" "00024162" "30" "6978" "0" "6978" "0" "c.6978G>A" "r.(?)" "p.(Lys2326=)" "" "0000930468" "00024162" "90" "7249" "0" "7249" "0" "c.7249G>A" "r.(?)" "p.(Val2417Met)" "" "0000950461" "00024162" "90" "754" "0" "754" "0" "c.754G>T" "r.(?)" "p.(Glu252*)" "" "0000950462" "00024162" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Asp304Asn)" "" "0000950463" "00024162" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(=)" "" "0000950464" "00024162" "50" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Asp629Asn)" "" "0000950465" "00024162" "30" "2203" "0" "2203" "0" "c.2203G>A" "r.(?)" "p.(Glu735Lys)" "" "0000950466" "00024162" "30" "2686" "0" "2686" "0" "c.2686T>A" "r.(?)" "p.(Ser896Thr)" "" "0000950467" "00024162" "30" "3124" "0" "3124" "0" "c.3124A>G" "r.(?)" "p.(Thr1042Ala)" "" "0000950468" "00024162" "30" "5155" "0" "5155" "0" "c.5155G>T" "r.(?)" "p.(Ala1719Ser)" "" "0000950469" "00024162" "50" "5341" "0" "5341" "0" "c.5341G>A" "r.(?)" "p.(Gly1781Ser)" "" "0000950470" "00024162" "50" "5627" "0" "5627" "0" "c.5627G>A" "r.(?)" "p.(Gly1876Glu)" "" "0000950471" "00024162" "70" "6412" "0" "6412" "0" "c.6412G>T" "r.(?)" "p.(Glu2138*)" "" "0000950472" "00024162" "30" "6613" "0" "6613" "0" "c.6613C>G" "r.(?)" "p.(His2205Asp)" "" "0000950473" "00024162" "50" "7328" "0" "7328" "0" "c.7328G>A" "r.(?)" "p.(Gly2443Asp)" "" "0000950474" "00024162" "50" "7378" "0" "7378" "0" "c.7378G>A" "r.(?)" "p.(Gly2460Arg)" "" "0000968001" "00024162" "50" "8" "0" "8" "0" "c.8C>A" "r.(?)" "p.(Thr3Asn)" "" "0000968002" "00024162" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236Ter)" "" "0000968003" "00024162" "30" "758" "-20" "758" "-20" "c.758-20G>T" "r.(=)" "p.(=)" "" "0000968004" "00024162" "50" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Thr604Met)" "" "0000968005" "00024162" "50" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Thr660Met)" "" "0000968006" "00024162" "30" "1980" "0" "1980" "0" "c.1980G>A" "r.(?)" "p.(=)" "" "0000968007" "00024162" "90" "2026" "1" "2026" "1" "c.2026+1G>A" "r.spl?" "p.?" "" "0000968009" "00024162" "30" "2955" "0" "2955" "0" "c.2955T>C" "r.(?)" "p.(=)" "" "0000968010" "00024162" "30" "2979" "0" "2979" "0" "c.2979C>T" "r.(?)" "p.(=)" "" "0000968011" "00024162" "30" "3067" "0" "3067" "0" "c.3067A>G" "r.(?)" "p.(Thr1023Ala)" "" "0000968012" "00024162" "30" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(=)" "" "0000968013" "00024162" "50" "3579" "0" "3579" "0" "c.3579C>T" "r.(?)" "p.(=)" "" "0000968014" "00024162" "50" "3580" "0" "3580" "0" "c.3580G>T" "r.(?)" "p.(Ala1194Ser)" "" "0000968015" "00024162" "30" "4223" "0" "4224" "0" "c.4223_4224insTGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGA" "r.(?)" "p.(Val1407_Glu1408insAspGluIleSerGlyLeuProSerGlyGluValLeuGluThrThrAlaProGlyVal)" "" "0000968016" "00024162" "70" "5518" "0" "5518" "0" "c.5518del" "r.(?)" "p.(Ala1840Profs*11)" "" "0000968017" "00024162" "30" "6492" "0" "6492" "0" "c.6492C>G" "r.(?)" "p.(=)" "" "0000968018" "00024162" "50" "6804" "0" "6804" "0" "c.6804G>C" "r.(?)" "p.(Trp2268Cys)" "" "0000968020" "00024162" "50" "12133" "0" "12133" "0" "c.*4540G>A" "r.(=)" "p.(=)" "" "0000981473" "00024162" "30" "455" "-9" "455" "-9" "c.455-9G>A" "r.(=)" "p.(=)" "" "0000981474" "00024162" "30" "1430" "-5" "1430" "-5" "c.1430-5C>T" "r.spl?" "p.?" "" "0000981475" "00024162" "50" "1793" "0" "1793" "0" "c.1793G>T" "r.(?)" "p.(Cys598Phe)" "" "0000981476" "00024162" "30" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(=)" "" "0000981477" "00024162" "50" "1834" "0" "1834" "0" "c.1834T>A" "r.(?)" "p.(Tyr612Asn)" "" "0000981478" "00024162" "50" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Thr660Met)" "" "0000981479" "00024162" "70" "2173" "0" "2173" "0" "c.2173G>T" "r.(?)" "p.(Glu725*)" "" "0000981480" "00024162" "30" "3124" "0" "3124" "0" "c.3124A>T" "r.(?)" "p.(Thr1042Ser)" "" "0000981481" "00024162" "30" "3865" "0" "3865" "0" "c.3865G>A" "r.(?)" "p.(Ala1289Thr)" "" "0000981483" "00024162" "50" "4715" "0" "4715" "0" "c.4715G>A" "r.(?)" "p.(Gly1572Glu)" "" "0000981484" "00024162" "30" "6210" "0" "6210" "0" "c.6210T>C" "r.(?)" "p.(=)" "" "0000981485" "00024162" "50" "6232" "0" "6232" "0" "c.6232G>T" "r.(?)" "p.(Asp2078Tyr)" "" "0000981486" "00024162" "30" "6617" "0" "6617" "0" "c.6617C>A" "r.(?)" "p.(Thr2206Asn)" "" "0000981487" "00024162" "50" "7378" "0" "7378" "0" "c.7378G>A" "r.(?)" "p.(Gly2460Arg)" "" "0001001737" "00024162" "50" "-7" "-3" "-7" "-3" "c.-7-3C>T" "r.spl?" "p.?" "" "0001001738" "00024162" "30" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Gly195Ser)" "" "0001001739" "00024162" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Ser)" "" "0001001740" "00024162" "50" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Ala467Thr)" "" "0001001741" "00024162" "30" "1812" "0" "1812" "0" "c.1812G>A" "r.(?)" "p.(=)" "" "0001001742" "00024162" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Ile)" "" "0001001743" "00024162" "50" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Thr652Met)" "" "0001001744" "00024162" "50" "2344" "0" "2344" "0" "c.2344T>C" "r.(?)" "p.(Ser782Pro)" "" "0001001745" "00024162" "30" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Gly952Arg)" "" "0001001746" "00024162" "50" "2902" "0" "2902" "0" "c.2902T>C" "r.(?)" "p.(Ser968Pro)" "" "0001001747" "00024162" "30" "2947" "0" "2947" "0" "c.2947G>C" "r.(?)" "p.(Glu983Gln)" "" "0001001748" "00024162" "50" "3000" "0" "3000" "0" "c.3000T>C" "r.(?)" "p.(=)" "" "0001001749" "00024162" "50" "3015" "0" "3015" "0" "c.3015C>T" "r.(?)" "p.(Ala1005=)" "" "0001001750" "00024162" "50" "3181" "0" "3351" "0" "c.3181_3351del" "r.(?)" "p.(Thr1061_Thr1117del)" "" "0001001751" "00024162" "50" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Ala1099Thr)" "" "0001001752" "00024162" "30" "3465" "0" "3465" "0" "c.3465C>T" "r.(?)" "p.(=)" "" "0001001753" "00024162" "30" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Ala1327Thr)" "" "0001001754" "00024162" "50" "4097" "0" "4097" "0" "c.4097C>T" "r.(?)" "p.(Ala1366Val)" "" "0001001755" "00024162" "50" "4111" "0" "4111" "0" "c.4111G>C" "r.(?)" "p.(Asp1371His)" "" "0001001756" "00024162" "70" "5461" "0" "5468" "0" "c.5461_5468del" "r.(?)" "p.(Ser1821Argfs*2)" "" "0001001757" "00024162" "70" "5608" "0" "5635" "0" "c.5608_5635dup" "r.(?)" "p.(Ser1879Trpfs*34)" "" "0001001758" "00024162" "30" "6483" "0" "6483" "0" "c.6483G>A" "r.(?)" "p.(=)" "" "0001001759" "00024162" "70" "6616" "0" "6617" "0" "c.6616_6617del" "r.(?)" "p.(Thr2206Leufs*15)" "" "0001001760" "00024162" "30" "7007" "0" "7007" "0" "c.7007C>T" "r.(?)" "p.(Pro2336Leu)" "" "0001001761" "00024162" "50" "7310" "0" "7310" "0" "c.7310C>T" "r.(?)" "p.(Pro2437Leu)" "" "0001001762" "00024162" "50" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Trp)" "" "0001001763" "00024162" "50" "7573" "0" "7573" "0" "c.7573C>T" "r.(?)" "p.(Arg2525Cys)" "" "0001001764" "00024162" "30" "7649" "0" "7649" "0" "c.*56G>A" "r.(=)" "p.(=)" "" "0001015257" "00024162" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Asp167Asn)" "" "0001015258" "00024162" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(=)" "" "0001015259" "00024162" "30" "897" "0" "897" "0" "c.897C>T" "r.(?)" "p.(=)" "" "0001015260" "00024162" "50" "3150" "0" "3150" "0" "c.3150C>A" "r.(?)" "p.(Ser1050Arg)" "" "0001015261" "00024162" "50" "3922" "0" "3922" "0" "c.3922G>A" "r.(?)" "p.(Ala1308Thr)" "" "0001015262" "00024162" "30" "4929" "0" "4929" "0" "c.4929C>T" "r.(?)" "p.(=)" "" "0001015263" "00024162" "50" "5432" "0" "5432" "0" "c.5432G>A" "r.(?)" "p.(Gly1811Glu)" "" "0001015264" "00024162" "50" "6434" "0" "6434" "0" "c.6434C>T" "r.(?)" "p.(Ser2145Phe)" "" "0001015265" "00024162" "30" "7188" "13" "7188" "13" "c.7188+13G>A" "r.(=)" "p.(=)" "" "0001015266" "00024162" "50" "7498" "0" "7498" "0" "c.7498C>T" "r.(?)" "p.(Gln2500*)" "" "0001026521" "00024162" "70" "70" "1" "70" "1" "c.70+1G>A" "r.spl?" "p.?" "" "0001026522" "00024162" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Thr283Met)" "" "0001026523" "00024162" "50" "1299" "0" "1299" "0" "c.1299G>C" "r.(?)" "p.(Glu433Asp)" "" "0001026524" "00024162" "50" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Glu495Gly)" "" "0001026525" "00024162" "50" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0001026526" "00024162" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Val650Met)" "" "0001026527" "00024162" "10" "2307" "0" "2307" "0" "c.2307G>A" "r.(?)" "p.(=)" "" "0001026528" "00024162" "50" "4347" "0" "4347" "0" "c.4347C>T" "r.(?)" "p.(=)" "" "0001026529" "00024162" "50" "4768" "0" "4768" "0" "c.4768C>T" "r.(?)" "p.(Pro1590Ser)" "" "0001026530" "00024162" "30" "6486" "0" "6486" "0" "c.6486C>A" "r.(?)" "p.(=)" "" "0001026531" "00024162" "30" "6630" "0" "6630" "0" "c.6630C>T" "r.(?)" "p.(Gly2210=)" "" "0001026532" "00024162" "50" "7156" "0" "7156" "0" "c.7156G>A" "r.(?)" "p.(Gly2386Arg)" "" "0001026533" "00024162" "50" "7249" "0" "7249" "0" "c.7249G>A" "r.(?)" "p.(Val2417Met)" "" "0001040642" "00024162" "90" "486" "0" "486" "0" "c.486dup" "r.(?)" "p.(Arg163Thrfs*7)" "" "0001040643" "00024162" "10" "522" "0" "522" "0" "c.522C>G" "r.(?)" "p.(=)" "" "0001040644" "00024162" "50" "758" "-10" "758" "-1" "c.758-10_758-1del" "r.spl?" "p.?" "" "0001040645" "00024162" "50" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Tyr344Cys)" "" "0001040646" "00024162" "50" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Glu416Lys)" "" "0001040647" "00024162" "50" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Pro977Ser)" "" "0001040648" "00024162" "50" "3134" "0" "3134" "0" "c.3134del" "r.(?)" "p.(Gly1045Glufs*2)" "" "0001040649" "00024162" "50" "3264" "0" "3264" "0" "c.3264C>T" "r.(?)" "p.(=)" "" "0001040650" "00024162" "50" "3523" "0" "3523" "0" "c.3523G>A" "r.(?)" "p.(Ala1175Thr)" "" "0001040651" "00024162" "30" "3694" "0" "3694" "0" "c.3694G>A" "r.(?)" "p.(Ala1232Thr)" "" "0001044581" "00024162" "70" "71" "-33" "71" "-14" "c.71-33_71-14del" "r.spl?" "p.(?)" "2i" "0001046507" "00024162" "30" "70" "9" "70" "9" "c.70+9A>T" "r.(=)" "p.(=)" "" "0001046508" "00024162" "30" "432" "0" "432" "0" "c.432C>A" "r.(?)" "p.(=)" "" "0001046509" "00024162" "30" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" "" "0001046510" "00024162" "50" "1575" "0" "1575" "0" "c.1575C>G" "r.(?)" "p.(Asp525Glu)" "" "0001046511" "00024162" "70" "2100" "0" "2104" "0" "c.2100_2104del" "r.(?)" "p.(Trp700Cysfs*78)" "" "0001046512" "00024162" "50" "2112" "0" "2112" "0" "c.2112A>T" "r.(?)" "p.(Gln704His)" "" "0001046513" "00024162" "30" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Val815Met)" "" "0001046514" "00024162" "50" "4210" "0" "4210" "0" "c.4210G>T" "r.(?)" "p.(Ala1404Ser)" "" "0001046515" "00024162" "50" "6142" "0" "6142" "0" "c.6142C>G" "r.(?)" "p.(Pro2048Ala)" "" "0001046516" "00024162" "50" "6346" "0" "6346" "0" "c.6346G>A" "r.(?)" "p.(Ala2116Thr)" "" "0001046517" "00024162" "30" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Leu2209=)" "" "0001046518" "00024162" "50" "6743" "0" "6743" "0" "c.6743C>T" "r.(?)" "p.(Thr2248Ile)" "" "0001046519" "00024162" "50" "6946" "19" "6946" "19" "c.6946+19G>A" "r.(=)" "p.(=)" "" "0001046520" "00024162" "50" "7417" "0" "7417" "0" "c.7417C>T" "r.(?)" "p.(Arg2473Trp)" "" "0001055233" "00024162" "50" "4738" "0" "4738" "0" "c.4738G>T" "r.(?)" "p.(Ala1580Ser)" "" "0001055234" "00024162" "70" "5429" "0" "5429" "0" "c.5429C>G" "r.(?)" "p.(Ser1810*)" "" "0001055235" "00024162" "70" "7141" "0" "7141" "0" "c.7141G>T" "r.(?)" "p.(Asp2381Tyr)" "" "0001055236" "00024162" "50" "7153" "0" "7153" "0" "c.7153G>A" "r.(?)" "p.(Glu2385Lys)" "" "0001059600" "00024162" "70" "1605" "-2" "1605" "-2" "c.1605-2A>C" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000080072" "0000128949" "0000080073" "0000128950" "0000080075" "0000128952" "0000261907" "0000592079" "0000261973" "0000592093" "0000262300" "0000592590" "0000262301" "0000592591" "0000262302" "0000592592" "0000262303" "0000592593" "0000262304" "0000592594" "0000262305" "0000592595" "0000262306" "0000592596" "0000321318" "0000704147" "0000376392" "0000787988" "0000376393" "0000787989" "0000376394" "0000787990" "0000466945" "0001044581" "0000471452" "0001059600"