### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OCRL) # 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}}" "OCRL" "oculocerebrorenal syndrome of Lowe" "X" "q25" "unknown" "NG_008638.1" "UD_132119096100" "" "https://www.LOVD.nl/OCRL" "" "1" "8108" "4952" "300535" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OCRL_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-07-16 17:50:29" "00006" "2025-09-24 08:32:36" ## 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}}" "00000570" "OCRL" "transcript variant a" "001" "NM_000276.3" "" "NP_000267.2" "" "" "" "-165" "4992" "2706" "128674252" "128726533" "00000" "2012-09-13 12:33:16" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00323" "DENT2" "Dent disease, type 2" "XLR" "300555" "" "" "" "00008" "2014-02-03 12:38:51" "00006" "2021-12-10 21:51:32" "00775" "OCRL" "Lowe oculocerebrorenal syndrome (OCRL)" "XLR" "309000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "OCRL" "00139" "OCRL" "00323" "OCRL" "00775" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050662" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00174395" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00235341" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00246689" "" "" "" "1" "" "03360" "" "" "" "" "" "" "0" "" "" "" "00004" "00307959" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "M" "" "" "" "0" "" "" "" "15DG0115" "00374429" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3192" "00374792" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1274" "00403763" "" "" "" "1" "" "00006" "{PMID:Rendu 2017:27790796}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "" "" "France" "" "0" "" "" "" "patient" "00414363" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP30" "00414394" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP61" "00414441" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP108" "00444921" "" "" "" "3" "" "00006" "{PMID:Ma 2016:26694549}" "3-generation family, affected mother/son/daughter" "F" "" "Australia" "" "0" "" "" "" "Fam38PatII2" "00445050" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CCMR00491" "00464361" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00466836" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat123" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050662" "00198" "00174395" "00198" "00235341" "00198" "00246689" "00775" "00307959" "00139" "00374429" "00198" "00374792" "00198" "00403763" "00775" "00414363" "00198" "00414394" "00198" "00414441" "00198" "00444921" "00296" "00445050" "00296" "00464361" "00323" "00466836" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00296, 00323, 00775, 01157, 05296 ## Count = 16 "{{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}}" "0000037274" "00198" "00050662" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development, feeding difficulties in infancy, cryptorchidism, plagiocephaly, pectus carinatum, abnormal facial shape, deeply set eye, high anterior hairline, broad forehead, macrotia, clinodactyly of the 5th finger, abnormality of the palmar creases, skin dimples, intrauterine growth retardation, short stature, delayed gross motor development, joint hypermobility" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000139233" "00198" "00174395" "01807" "Unknown" "" "HP:0001252 (Muscular hypotonia)" "" "" "" "" "" "" "" "" "" "" "" "0000175603" "00198" "00235341" "01807" "Unknown" "" "Seizures (HP:0001250); Cataract (HP:0000518)" "" "" "" "" "" "" "" "" "" "" "" "0000186534" "00775" "00246689" "03360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233382" "00139" "00307959" "00006" "Familial, X-linked" "2y8m" "see paper; ..., Congenital cataract, Nephrocalcinosis, Global developmental delay, Sparse hair, Fair hair, Microphthalmia, Hypotonia, Hyperreflexia" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000269639" "00198" "00374429" "00006" "Familial, X-linked" "" "Global developmental delay, congenital cataract, hypotonia, umbilical hernia, failure to thrive, vitamin D deficiency and seizures" "" "" "" "" "" "" "" "" "" "epilepsy, neuropathy" "" "0000270002" "00198" "00374792" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000296462" "00775" "00403763" "00006" "Familial, X-linked recessive" "05y" "born at term; normal motor milestones; delayed speech and language; 3y-short stature, bilateral cataracts ; 5y-acute and chronic renal failure after 3w episode of vomiting, headaches, weight loss" "" "" "" "" "" "" "" "" "OCRL" "Lowe syndrome" "" "0000306198" "00198" "00414363" "00000" "Familial, autosomal dominant" "5y" "Dent Disease 2; Cystinuria" "" "" "" "" "" "" "" "" "" "" "" "0000306229" "00198" "00414394" "00000" "Familial, X-linked recessive" "3y" "" "" "" "" "" "" "" "" "" "Lowe Syndrome" "" "" "0000306276" "00198" "00414441" "00000" "Unknown" "6y" "Primary Hyperoxaluria Type 1;Dent Disease 2" "" "" "" "" "" "" "" "" "" "" "" "0000334171" "00296" "00444921" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral cataract, aphakic glaucoma, buphthalmos, scleromalacia; mother cataracts, brother cataracts, nonverbal/intellectual disability" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334302" "00296" "00445050" "00006" "Familial, X-linked recessive" "" "bilateral cataract, Lowe syndrome" "" "" "" "" "" "" "" "" "OCRL" "cataract" "" "0000352199" "05296" "00466836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050607" "00050662" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000175286" "00174395" "1" "01807" "01807" "2018-08-08 12:36:32" "" "" "SEQ" "DNA" "" "" "0000236446" "00235341" "1" "01807" "01807" "2019-05-22 21:18:05" "" "" "SEQ" "DNA" "" "" "0000247800" "00246689" "1" "03360" "03360" "2019-07-16 11:53:00" "00006" "2019-07-16 17:57:53" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000309103" "00307959" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000375623" "00374429" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375986" "00374792" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000405002" "00403763" "1" "00006" "00006" "2022-02-21 19:20:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000415643" "00414363" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415674" "00414394" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415721" "00414441" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000446490" "00444921" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446620" "00445050" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000465991" "00464361" "1" "04459" "04459" "2025-03-06 08:27:12" "" "" "SEQ-NG" "DNA" "" "" "0000468500" "00466836" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000050607" "OCRL" "0000247800" "OCRL" "0000309103" "OCRL" "0000375623" "OCRL" "0000375986" "NIPBL" "0000405002" "OCRL" "0000415643" "OCRL" "0000415674" "OCRL" "0000415721" "AGXT" "0000465991" "OCRL" ## 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 = 111 "{{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}}" "0000007611" "0" "50" "X" "128678907" "128678907" "subst" "0.0063059" "00037" "OCRL_000002" "g.128678907T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.129544930T>G" "" "VUS" "" "0000007612" "20" "50" "X" "128708910" "128708910" "subst" "0" "00037" "OCRL_000003" "g.128708910G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.129574933G>T" "" "VUS" "" "0000007613" "20" "50" "X" "128724525" "128724525" "subst" "0" "00037" "OCRL_000005" "g.128724525G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.129590548G>A" "" "VUS" "" "0000009745" "20" "50" "X" "128724525" "128724525" "subst" "0" "00037" "OCRL_000005" "g.128724525G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.129590548G>A" "" "VUS" "" "0000011202" "0" "50" "X" "128674631" "128674631" "del" "0" "00037" "OCRL_000008" "g.128674631del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.129540654del" "" "VUS" "" "0000015581" "20" "50" "X" "128708910" "128708910" "subst" "0" "00037" "OCRL_000003" "g.128708910G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.129574933G>T" "" "VUS" "" "0000079587" "0" "90" "X" "128699758" "128699758" "subst" "0" "00006" "OCRL_000009" "g.128699758T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.129565781T>G" "" "pathogenic" "" "0000254466" "0" "30" "X" "128678967" "128678967" "subst" "0.000201836" "01943" "OCRL_000012" "g.128678967A>G" "" "" "" "OCRL(NM_000276.3):c.152A>G (p.H51R), OCRL(NM_000276.4):c.152A>G (p.H51R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129544990A>G" "" "likely benign" "" "0000255779" "0" "90" "X" "128722154" "128722154" "subst" "0" "01943" "OCRL_000040" "g.128722154A>G" "" "" "" "OCRL(NM_000276.3):c.2257-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129588177A>G" "" "pathogenic" "" "0000255780" "0" "90" "X" "128723820" "128723820" "subst" "0" "01943" "OCRL_000055" "g.128723820A>G" "" "" "" "OCRL(NM_000276.3):c.2470-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589843A>G" "" "pathogenic" "" "0000256169" "0" "50" "X" "128696582" "128696582" "subst" "5.59606E-6" "01943" "OCRL_000053" "g.128696582A>G" "" "" "" "OCRL(NM_000276.3):c.1063A>G (p.K355E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129562605A>G" "" "VUS" "" "0000256741" "0" "50" "X" "128722243" "128722243" "subst" "0" "01943" "OCRL_000054" "g.128722243A>G" "" "" "" "OCRL(NM_000276.3):c.2341+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129588266A>G" "" "VUS" "" "0000296672" "0" "30" "X" "128674722" "128674722" "subst" "0.00574925" "02325" "OCRL_000011" "g.128674722C>T" "" "" "" "OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129540745C>T" "" "likely benign" "" "0000300507" "0" "50" "X" "128699855" "128699855" "subst" "0" "02326" "OCRL_000026" "g.128699855G>A" "" "" "" "OCRL(NM_000276.4):c.1351G>A (p.D451N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129565878G>A" "" "VUS" "" "0000300508" "0" "50" "X" "128710431" "128710431" "subst" "0" "02326" "OCRL_000038" "g.128710431G>A" "" "" "" "OCRL(NM_000276.4):c.2017G>A (p.G673R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129576454G>A" "" "VUS" "" "0000300509" "0" "10" "X" "128723046" "128723046" "subst" "0" "02326" "OCRL_000045" "g.128723046G>A" "" "" "" "OCRL(NM_000276.4):c.2469+56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589069G>A" "" "benign" "" "0000300510" "0" "10" "X" "128674722" "128674722" "subst" "0.00574925" "02326" "OCRL_000011" "g.128674722C>T" "" "" "" "OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129540745C>T" "" "benign" "" "0000304737" "0" "90" "X" "128701305" "128701305" "subst" "0" "01943" "OCRL_000027" "g.128701305T>G" "" "" "" "OCRL(NM_000276.3):c.1431T>G (p.Y477*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129567328T>G" "" "pathogenic" "" "0000304738" "0" "90" "X" "128701306" "128701311" "del" "0" "01943" "OCRL_000028" "g.128701306_128701311del" "" "" "" "OCRL(NM_000276.3):c.1432_1437delAAGTAT (p.K478_Y479del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129567329_129567334del" "" "pathogenic" "" "0000304739" "0" "90" "X" "128701341" "128701341" "subst" "0" "01943" "OCRL_000029" "g.128701341G>A" "" "" "" "OCRL(NM_000276.3):c.1466+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129567364G>A" "" "pathogenic" "" "0000304740" "0" "90" "X" "128703272" "128703272" "subst" "5.59275E-6" "01943" "OCRL_000031" "g.128703272C>T" "" "" "" "OCRL(NM_000276.3):c.1498C>T (p.R500*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129569295C>T" "" "pathogenic" "" "0000304741" "0" "50" "X" "128703288" "128703288" "subst" "0" "01943" "OCRL_000032" "g.128703288G>T" "" "" "" "OCRL(NM_000276.3):c.1514G>T (p.G505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129569311G>T" "" "VUS" "" "0000304742" "0" "90" "X" "128709135" "128709135" "subst" "0" "01943" "OCRL_000033" "g.128709135C>T" "" "" "" "OCRL(NM_000276.3):c.1621C>T (p.R541*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129575158C>T" "" "pathogenic" "" "0000304744" "0" "90" "X" "128709897" "128709897" "del" "0" "01943" "OCRL_000035" "g.128709897del" "" "" "" "OCRL(NM_000276.3):c.1737delT (p.R580Gfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129575920del" "" "pathogenic" "" "0000304745" "0" "90" "X" "128710002" "128710002" "subst" "0" "01943" "OCRL_000036" "g.128710002G>A" "" "" "" "OCRL(NM_000276.3):c.1842G>A (p.W614*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129576025G>A" "" "pathogenic" "" "0000304746" "0" "30" "X" "128710358" "128710358" "subst" "1.12003E-5" "01943" "OCRL_000037" "g.128710358G>A" "" "" "" "OCRL(NM_000276.3):c.1944G>A (p.S648=), OCRL(NM_000276.4):c.1944G>A (p.S648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129576381G>A" "" "likely benign" "" "0000304747" "0" "10" "X" "128679030" "128679030" "subst" "0.166839" "01943" "OCRL_000013" "g.128679030C>G" "" "" "" "OCRL(NM_000276.3):c.199+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129545053C>G" "" "benign" "" "0000304748" "0" "90" "X" "128721039" "128721039" "del" "0" "01943" "OCRL_000039" "g.128721039del" "" "" "" "OCRL(NM_000276.3):c.2200delG (p.V734Ffs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129587062del" "" "pathogenic" "" "0000304749" "0" "90" "X" "128722212" "128722215" "del" "0" "01943" "OCRL_000041" "g.128722212_128722215del" "" "" "" "OCRL(NM_000276.3):c.2313_2316delTCTG (p.C771Wfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129588235_129588238del" "" "pathogenic" "" "0000304751" "0" "10" "X" "128682589" "128682589" "subst" "0" "01943" "OCRL_000014" "g.128682589T>C" "" "" "" "OCRL(NM_000276.3):c.238+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129548612T>C" "" "benign" "" "0000304752" "0" "90" "X" "128722985" "128722985" "subst" "0" "01943" "OCRL_000043" "g.128722985C>T" "" "" "" "OCRL(NM_000276.3):c.2464C>T (p.R822*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589008C>T" "" "pathogenic" "" "0000304753" "0" "50" "X" "128723809" "128723809" "subst" "0" "01943" "OCRL_000046" "g.128723809T>G" "" "" "" "OCRL(NM_000276.3):c.2470-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589832T>G" "" "VUS" "" "0000304754" "0" "50" "X" "128723933" "128723933" "subst" "0" "01943" "OCRL_000048" "g.128723933G>A" "" "" "" "OCRL(NM_000276.3):c.2581G>A (p.A861T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589956G>A" "" "VUS" "" "0000304755" "0" "90" "X" "128724133" "128724137" "del" "0" "01943" "OCRL_000049" "g.128724133_128724137del" "" "" "" "OCRL(NM_000276.3):c.2592_2596delCACTA (p.F864Lfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129590156_129590160del" "" "pathogenic" "" "0000304756" "0" "10" "X" "128691426" "128691426" "subst" "5.7464E-6" "01943" "OCRL_000015" "g.128691426C>T" "" "" "" "OCRL(NM_000276.3):c.349+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129557449C>T" "" "benign" "" "0000304757" "0" "10" "X" "128691863" "128691863" "subst" "0.000917837" "01943" "OCRL_000016" "g.128691863G>T" "" "" "" "OCRL(NM_000276.3):c.375G>T (p.E125D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129557886G>T" "" "benign" "" "0000304758" "0" "30" "X" "128692651" "128692651" "subst" "4.48129E-5" "01943" "OCRL_000017" "g.128692651G>A" "" "" "" "OCRL(NM_000276.3):c.481G>A (p.D161N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129558674G>A" "" "likely benign" "" "0000304759" "0" "90" "X" "128692944" "128692944" "subst" "0" "01943" "OCRL_000018" "g.128692944C>T" "" "" "" "OCRL(NM_000276.3):c.688C>T (p.R230*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129558967C>T" "" "pathogenic" "" "0000304760" "0" "90" "X" "128694625" "128694625" "subst" "0" "01943" "OCRL_000019" "g.128694625T>C" "" "" "" "OCRL(NM_000276.3):c.821T>C (p.I274T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129560648T>C" "" "pathogenic" "" "0000304761" "0" "90" "X" "128695222" "128695222" "subst" "0" "01943" "OCRL_000020" "g.128695222G>A" "" "" "" "OCRL(NM_000276.3):c.891G>A (p.W297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129561245G>A" "" "pathogenic" "" "0000304762" "0" "90" "X" "128696350" "128696350" "subst" "0" "01943" "OCRL_000022" "g.128696350G>A" "" "" "" "OCRL(NM_000276.3):c.940-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129562373G>A" "" "pathogenic" "" "0000304763" "0" "50" "X" "128696377" "128696377" "subst" "0" "01943" "OCRL_000023" "g.128696377T>C" "" "" "" "OCRL(NM_000276.3):c.956T>C (p.L319P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129562400T>C" "" "VUS" "" "0000304764" "0" "50" "X" "128696382" "128696382" "subst" "0" "01943" "OCRL_000024" "g.128696382G>T" "" "" "" "OCRL(NM_000276.3):c.961G>T (p.G321W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129562405G>T" "" "VUS" "" "0000335469" "0" "50" "X" "128703237" "128703237" "dup" "0" "01804" "OCRL_000030" "g.128703237dup" "" "" "" "OCRL(NM_000276.3):c.1467-5_1467-4insA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129569260dup" "" "VUS" "" "0000335470" "0" "50" "X" "128722992" "128722992" "subst" "0" "01804" "OCRL_000044" "g.128722992T>G" "" "" "" "OCRL(NM_000276.3):c.2469+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589015T>G" "" "VUS" "" "0000335471" "0" "30" "X" "128723915" "128723915" "subst" "2.7985E-5" "01804" "OCRL_000047" "g.128723915G>A" "" "" "" "OCRL(NM_000276.3):c.2563G>A (p.(Val855Ile)), OCRL(NM_001318784.1):c.2566G>A (p.V856I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129589938G>A" "" "likely benign" "" "0000337111" "0" "10" "X" "128679030" "128679030" "subst" "0.166839" "02327" "OCRL_000013" "g.128679030C>G" "" "" "" "OCRL(NM_000276.3):c.199+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129545053C>G" "" "benign" "" "0000342655" "0" "90" "X" "128696421" "128696421" "subst" "0" "02327" "OCRL_000051" "g.128696421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129562444C>T" "" "pathogenic" "" "0000344998" "0" "90" "X" "128691323" "128691324" "del" "0" "02327" "OCRL_000050" "g.128691323_128691324del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129557346_129557347del" "" "pathogenic" "" "0000350872" "0" "30" "X" "128703383" "128703383" "subst" "5.5987E-6" "02327" "OCRL_000052" "g.128703383A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129569406A>G" "" "likely benign" "" "0000395157" "3" "70" "X" "128703342" "128703342" "subst" "0" "01807" "OCRL_000056" "g.128703342A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.129569365A>C" "" "likely pathogenic" "" "0000480155" "3" "90" "X" "128722935" "128722935" "dup" "0" "01807" "OCRL_000057" "g.128722935dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.129588958dup" "" "pathogenic" "" "0000500684" "21" "90" "X" "128694525" "128694525" "subst" "0" "03360" "OCRL_000058" "g.128694525A>C" "" "" "" "g.25274A>G" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.129560548A>C" "" "pathogenic" "" "0000573413" "0" "30" "X" "128674722" "128674722" "subst" "0.00574925" "01804" "OCRL_000011" "g.128674722C>T" "" "" "" "OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129540745C>T" "" "likely benign" "" "0000573414" "0" "10" "X" "128678967" "128678967" "subst" "0.000201836" "02326" "OCRL_000012" "g.128678967A>G" "" "" "" "OCRL(NM_000276.3):c.152A>G (p.H51R), OCRL(NM_000276.4):c.152A>G (p.H51R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129544990A>G" "" "benign" "" "0000573415" "0" "30" "X" "128691426" "128691426" "subst" "5.7464E-6" "02327" "OCRL_000015" "g.128691426C>T" "" "" "" "OCRL(NM_000276.3):c.349+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557449C>T" "" "likely benign" "" "0000573416" "0" "10" "X" "128691930" "128691930" "subst" "0.00237366" "01943" "OCRL_000059" "g.128691930A>G" "" "" "" "OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557953A>G" "" "benign" "" "0000573417" "0" "30" "X" "128691930" "128691930" "subst" "0.00237366" "01804" "OCRL_000059" "g.128691930A>G" "" "" "" "OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557953A>G" "" "likely benign" "" "0000573418" "0" "30" "X" "128691930" "128691930" "subst" "0.00237366" "02325" "OCRL_000059" "g.128691930A>G" "" "" "" "OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557953A>G" "" "likely benign" "" "0000573419" "0" "30" "X" "128691930" "128691930" "subst" "0.00237366" "02326" "OCRL_000059" "g.128691930A>G" "" "" "" "OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557953A>G" "" "likely benign" "" "0000573420" "0" "30" "X" "128692611" "128692611" "subst" "0" "01943" "OCRL_000060" "g.128692611G>A" "" "" "" "OCRL(NM_001318784.1):c.444G>A (p.G148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129558634G>A" "" "likely benign" "" "0000573421" "0" "10" "X" "128696349" "128696349" "subst" "0.00289909" "02326" "OCRL_000061" "g.128696349C>T" "" "" "" "OCRL(NM_000276.4):c.940-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129562372C>T" "" "benign" "" "0000573422" "0" "30" "X" "128699779" "128699779" "subst" "1.12023E-5" "01943" "OCRL_000062" "g.128699779T>C" "" "" "" "OCRL(NM_001318784.1):c.1278T>C (p.Y426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129565802T>C" "" "likely benign" "" "0000573424" "0" "30" "X" "128699795" "128699795" "subst" "0.000436977" "01943" "OCRL_000063" "g.128699795G>A" "" "" "" "OCRL(NM_001318784.1):c.1294G>A (p.D432N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129565818G>A" "" "likely benign" "" "0000573426" "0" "50" "X" "128701328" "128701328" "subst" "0" "01943" "OCRL_000064" "g.128701328G>A" "" "" "" "OCRL(NM_001318784.1):c.1457G>A (p.R486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129567351G>A" "" "VUS" "" "0000573427" "0" "90" "X" "128709205" "128709208" "dup" "0" "01943" "OCRL_000065" "g.128709205_128709208dup" "" "" "" "OCRL(NM_000276.3):c.1691_1694dupCCTT (p.L565Ffs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129575228_129575231dup" "" "pathogenic" "" "0000573428" "0" "30" "X" "128710402" "128710402" "subst" "1.67967E-5" "01943" "OCRL_000066" "g.128710402G>A" "" "" "" "OCRL(NM_001318784.1):c.1991G>A (p.R664Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129576425G>A" "" "likely benign" "" "0000573429" "0" "90" "X" "128710512" "128710512" "dup" "0" "01943" "OCRL_000067" "g.128710512dup" "" "" "" "OCRL(NM_000276.3):c.2098dupA (p.T700Nfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129576535dup" "" "pathogenic" "" "0000573430" "0" "30" "X" "128718312" "128718312" "subst" "0.000414652" "01943" "OCRL_000068" "g.128718312C>T" "" "" "" "OCRL(NM_001318784.1):c.2119-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129584335C>T" "" "likely benign" "" "0000573431" "0" "50" "X" "128722889" "128722891" "dup" "0" "01943" "OCRL_000069" "g.128722889_128722891dup" "" "" "" "OCRL(NM_000276.3):c.2368_2370dupGCA (p.A790dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129588912_129588914dup" "" "VUS" "" "0000573432" "0" "50" "X" "128723823" "128723823" "subst" "0" "01943" "OCRL_000070" "g.128723823T>C" "" "" "" "OCRL(NM_001318784.1):c.2474T>C (p.V825A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129589846T>C" "" "VUS" "" "0000573433" "0" "30" "X" "128723915" "128723915" "subst" "2.7985E-5" "01943" "OCRL_000047" "g.128723915G>A" "" "" "" "OCRL(NM_000276.3):c.2563G>A (p.(Val855Ile)), OCRL(NM_001318784.1):c.2566G>A (p.V856I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129589938G>A" "" "likely benign" "" "0000618982" "0" "30" "X" "128682533" "128682533" "dup" "0" "01943" "OCRL_000072" "g.128682533dup" "" "" "" "OCRL(NM_001318784.1):c.203-7dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129548556dup" "" "likely benign" "" "0000618983" "0" "90" "X" "128691333" "128691333" "subst" "0" "02327" "OCRL_000073" "g.128691333G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557356G>A" "" "pathogenic" "" "0000618984" "0" "50" "X" "128692855" "128692855" "subst" "0" "02327" "OCRL_000074" "g.128692855C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129558878C>G" "" "VUS" "" "0000618985" "0" "30" "X" "128692889" "128692889" "subst" "0" "01943" "OCRL_000075" "g.128692889A>G" "" "" "" "OCRL(NM_001318784.1):c.636A>G (p.V212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129558912A>G" "" "likely benign" "" "0000618986" "0" "30" "X" "128696629" "128696629" "subst" "1.11929E-5" "01943" "OCRL_000076" "g.128696629C>T" "" "" "" "OCRL(NM_001318784.1):c.1113C>T (p.C371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129562652C>T" "" "likely benign" "" "0000624411" "0" "50" "X" "128678991" "128678991" "subst" "0" "01943" "OCRL_000071" "g.128678991A>G" "" "" "" "OCRL(NM_001318784.1):c.179A>G (p.N60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129545014A>G" "" "VUS" "" "0000659076" "0" "50" "X" "128691838" "128691838" "subst" "1.67915E-5" "01943" "OCRL_000077" "g.128691838C>T" "" "" "" "OCRL(NM_001318784.1):c.353C>T (p.A118V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129557861C>T" "" "VUS" "" "0000682076" "0" "30" "X" "128674721" "128674721" "subst" "1.11959E-5" "01943" "OCRL_000078" "g.128674721A>G" "" "" "" "OCRL(NM_000276.3):c.40A>G (p.(Thr14Ala)), OCRL(NM_001318784.1):c.43A>G (p.T15A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682077" "0" "50" "X" "128691316" "128691316" "subst" "0" "01943" "OCRL_000079" "g.128691316C>T" "" "" "" "OCRL(NM_001318784.1):c.256C>T (p.R86W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682078" "0" "50" "X" "128709898" "128709898" "subst" "5.59522E-6" "02325" "OCRL_000080" "g.128709898C>T" "" "" "" "OCRL(NM_001318784.2):c.1741C>T (p.R581W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683566" "0" "70" "X" "128723831" "128723831" "subst" "0" "00006" "OCRL_000081" "g.128723831C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.129589854C>T" "" "likely pathogenic" "ACMG" "0000728402" "0" "30" "X" "128696647" "128696647" "subst" "7.83436E-5" "01943" "OCRL_000082" "g.128696647G>T" "" "" "" "OCRL(NM_001318784.1):c.1131G>T (p.L377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728403" "0" "30" "X" "128701290" "128701290" "subst" "5.60475E-5" "01943" "OCRL_000083" "g.128701290G>A" "" "" "" "OCRL(NM_001318784.1):c.1419G>A (p.K473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728404" "0" "30" "X" "128722241" "128722241" "subst" "0" "02327" "OCRL_000084" "g.128722241G>A" "" "" "" "OCRL(NM_000276.4):c.2341+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786974" "0" "70" "X" "128695158" "128695158" "subst" "0" "00006" "OCRL_000085" "g.128695158T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.129561181T>C" "" "likely pathogenic" "" "0000787601" "0" "50" "X" "128691930" "128691930" "subst" "0.00237366" "00000" "OCRL_000059" "g.128691930A>G" "" "0" "" "" "" "Germline" "" "rs61752971" "0" "" "" "g.129557953A>G" "{CV-RCV:000632787.1}" "VUS" "" "0000809864" "0" "30" "X" "128674716" "128674716" "subst" "0.000195986" "02325" "OCRL_000089" "g.128674716C>T" "" "" "" "OCRL(NM_000276.4):c.40-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809865" "0" "30" "X" "128674716" "128674716" "subst" "0.000195986" "02326" "OCRL_000089" "g.128674716C>T" "" "" "" "OCRL(NM_000276.4):c.40-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809866" "0" "30" "X" "128674722" "128674722" "subst" "0.00574925" "01943" "OCRL_000011" "g.128674722C>T" "" "" "" "OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809867" "0" "30" "X" "128710290" "128710290" "subst" "0" "01943" "OCRL_000090" "g.128710290T>C" "" "" "" "OCRL(NM_001318784.1):c.1883-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000840985" "21" "90" "X" "128687279" "128687279" "subst" "0" "00006" "OCRL_000091" "g.128687279A>G" "" "{PMID:Rendu 2017:27790796}" "" "238+4701A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000856332" "0" "50" "X" "128691839" "128691839" "subst" "3.91784E-5" "01943" "OCRL_000093" "g.128691839T>G" "" "" "" "OCRL(NM_001318784.1):c.354T>G (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856333" "0" "30" "X" "128710358" "128710358" "subst" "1.12003E-5" "02326" "OCRL_000037" "g.128710358G>A" "" "" "" "OCRL(NM_000276.3):c.1944G>A (p.S648=), OCRL(NM_000276.4):c.1944G>A (p.S648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867027" "0" "50" "X" "128674432" "128674432" "subst" "0" "01943" "OCRL_000092" "g.128674432C>G" "" "" "" "OCRL(NM_001318784.1):c.16C>G (p.P6A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873481" "0" "70" "X" "128696461" "128696461" "subst" "0" "00000" "OCRL_000095" "g.128696461G>A" "130" "{PMID:Sun 2018:30076350}" "" "OCRL(NM_000276.3):c.1040G>A(p.G347E); SLC7A9(NM_001243036.1):c.829G>A(p.V277M)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.129562484G>A" "" "likely pathogenic" "" "0000873524" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "161" "{PMID:Sun 2018:30076350}" "" "OCRL(NM_000276.3):CDS20-23 deletion" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873596" "0" "70" "X" "128694612" "128694612" "subst" "0" "00000" "OCRL_000094" "g.128694612G>A" "208" "{PMID:Sun 2018:30076350}" "" "AGXT (NM_000030.2):c.557C>T (p.A186V)/c.590G>A(p.R197Q); OCRL(NM_000276.3):c.808G>A(p.D270N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.129560635G>A" "" "likely pathogenic" "" "0000895919" "0" "30" "X" "128691282" "128691282" "subst" "0.000640503" "02326" "OCRL_000096" "g.128691282T>C" "" "" "" "OCRL(NM_000276.4):c.239-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895920" "0" "90" "X" "128709135" "128709135" "subst" "0" "02327" "OCRL_000033" "g.128709135C>T" "" "" "" "OCRL(NM_000276.3):c.1621C>T (p.R541*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951675" "0" "50" "X" "128674721" "128674721" "subst" "1.11959E-5" "01804" "OCRL_000078" "g.128674721A>G" "" "" "" "OCRL(NM_000276.3):c.40A>G (p.(Thr14Ala)), OCRL(NM_001318784.1):c.43A>G (p.T15A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951676" "0" "90" "X" "128674793" "128674793" "subst" "0" "02326" "OCRL_000097" "g.128674793C>T" "" "" "" "OCRL(NM_000276.4):c.112C>T (p.Q38*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951677" "0" "50" "X" "128696703" "128696703" "subst" "7.83226E-5" "02325" "OCRL_000098" "g.128696703C>T" "" "" "" "OCRL(NM_000276.4):c.1184C>T (p.A395V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954830" "0" "50" "X" "128691930" "128691930" "subst" "0.00237366" "00006" "OCRL_000059" "g.128691930A>G" "" "{PMID:Ma 2016:26694549}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.129557953A>G" "" "VUS" "" "0000954973" "1" "70" "X" "128710333" "128710334" "del" "0" "00006" "OCRL_000099" "g.128710333_128710334del" "" "{PMID:Kessel 2021:34169787}" "" "1919_1920delAA" "ACMG PSV1, PM2" "Germline" "" "" "0" "" "" "g.129576356_129576357del" "" "likely pathogenic (recessive)" "" "0000970716" "0" "50" "X" "128710028" "128710028" "subst" "0" "02327" "OCRL_000100" "g.128710028A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006413" "0" "50" "X" "128703315" "128703315" "subst" "5.59322E-6" "01804" "OCRL_000101" "g.128703315G>A" "" "" "" "OCRL(NM_000276.3):c.1541G>A (p.(Arg514Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006414" "0" "30" "X" "128720983" "128720983" "subst" "0" "01804" "OCRL_000102" "g.128720983A>T" "" "" "" "OCRL(NM_000276.3):c.2144A>T (p.(Lys715Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029803" "1" "90" "X" "128696350" "128696350" "subst" "0" "04459" "OCRL_000022" "g.128696350G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.129562373G>A" "" "pathogenic" "" "0001048334" "3" "10" "X" "128699681" "128699681" "subst" "0" "00006" "OCRL_000103" "g.128699681C>T" "" "{PMID:Tuysuz 2022:34902613}" "" "NM_001318784:c.1248-68C>T" "ACMG" "Germline" "" "" "0" "" "" "g.129565704C>T" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes OCRL ## Count = 111 "{{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}}" "0000007611" "00000570" "50" "120" "-28" "120" "-28" "c.120-28T>G" "r.(=)" "p.(=)" "" "0000007612" "00000570" "50" "1603" "-207" "1603" "-207" "c.1603-207G>T" "r.(=)" "p.(=)" "" "0000007613" "00000570" "50" "2984" "0" "2984" "0" "c.*278G>A" "r.(=)" "p.(=)" "" "0000009745" "00000570" "50" "2984" "0" "2984" "0" "c.*278G>A" "r.(=)" "p.(=)" "" "0000011202" "00000570" "50" "40" "-90" "40" "-90" "c.40-90del" "r.(=)" "p.(=)" "" "0000015581" "00000570" "50" "1603" "-207" "1603" "-207" "c.1603-207G>T" "r.(=)" "p.(=)" "" "0000079587" "00000570" "00" "1254" "0" "1254" "0" "c.1254T>G" "r.(?)" "p.(Ile418Met)" "" "0000254466" "00000570" "30" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(His51Arg)" "" "0000255779" "00000570" "90" "2257" "-2" "2257" "-2" "c.2257-2A>G" "r.spl?" "p.?" "" "0000255780" "00000570" "90" "2470" "-2" "2470" "-2" "c.2470-2A>G" "r.spl?" "p.?" "" "0000256169" "00000570" "50" "1063" "0" "1063" "0" "c.1063A>G" "r.(?)" "p.(Lys355Glu)" "" "0000256741" "00000570" "50" "2341" "3" "2341" "3" "c.2341+3A>G" "r.spl?" "p.?" "" "0000296672" "00000570" "30" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Thr14Ile)" "" "0000300507" "00000570" "50" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Asp451Asn)" "" "0000300508" "00000570" "50" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Gly673Arg)" "" "0000300509" "00000570" "10" "2469" "56" "2469" "56" "c.2469+56G>A" "r.(=)" "p.(=)" "" "0000300510" "00000570" "10" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Thr14Ile)" "" "0000304737" "00000570" "90" "1431" "0" "1431" "0" "c.1431T>G" "r.(?)" "p.(Tyr477Ter)" "" "0000304738" "00000570" "90" "1432" "0" "1437" "0" "c.1432_1437del" "r.(?)" "p.(Lys478_Tyr479del)" "" "0000304739" "00000570" "90" "1466" "1" "1466" "1" "c.1466+1G>A" "r.spl?" "p.?" "" "0000304740" "00000570" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500Ter)" "" "0000304741" "00000570" "50" "1514" "0" "1514" "0" "c.1514G>T" "r.(?)" "p.(Gly505Val)" "" "0000304742" "00000570" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Ter)" "" "0000304744" "00000570" "90" "1737" "0" "1737" "0" "c.1737del" "r.(?)" "p.(Arg580GlyfsTer64)" "" "0000304745" "00000570" "90" "1842" "0" "1842" "0" "c.1842G>A" "r.(?)" "p.(Trp614Ter)" "" "0000304746" "00000570" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Ser648=)" "" "0000304747" "00000570" "10" "199" "16" "199" "16" "c.199+16C>G" "r.(=)" "p.(=)" "" "0000304748" "00000570" "90" "2200" "0" "2200" "0" "c.2200del" "r.(?)" "p.(Val734PhefsTer8)" "" "0000304749" "00000570" "90" "2313" "0" "2316" "0" "c.2313_2316del" "r.(?)" "p.(Cys771TrpfsTer53)" "" "0000304751" "00000570" "10" "238" "11" "238" "11" "c.238+11T>C" "r.(=)" "p.(=)" "" "0000304752" "00000570" "90" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Ter)" "" "0000304753" "00000570" "50" "2470" "-13" "2470" "-13" "c.2470-13T>G" "r.(=)" "p.(=)" "" "0000304754" "00000570" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Ala861Thr)" "" "0000304755" "00000570" "90" "2592" "0" "2596" "0" "c.2592_2596del" "r.(?)" "p.(Phe864LeufsTer18)" "" "0000304756" "00000570" "10" "349" "14" "349" "14" "c.349+14C>T" "r.(=)" "p.(=)" "" "0000304757" "00000570" "10" "375" "0" "375" "0" "c.375G>T" "r.(?)" "p.(Glu125Asp)" "" "0000304758" "00000570" "30" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Asp161Asn)" "" "0000304759" "00000570" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Ter)" "" "0000304760" "00000570" "90" "821" "0" "821" "0" "c.821T>C" "r.(?)" "p.(Ile274Thr)" "" "0000304761" "00000570" "90" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Trp297Ter)" "" "0000304762" "00000570" "90" "940" "-11" "940" "-11" "c.940-11G>A" "r.(=)" "p.(=)" "" "0000304763" "00000570" "50" "956" "0" "956" "0" "c.956T>C" "r.(?)" "p.(Leu319Pro)" "" "0000304764" "00000570" "50" "961" "0" "961" "0" "c.961G>T" "r.(?)" "p.(Gly321Trp)" "" "0000335469" "00000570" "50" "1467" "-4" "1467" "-4" "c.1467-4dup" "r.spl?" "p.?" "" "0000335470" "00000570" "50" "2469" "2" "2469" "2" "c.2469+2T>G" "r.spl?" "p.?" "" "0000335471" "00000570" "30" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Val855Ile)" "" "0000337111" "00000570" "10" "199" "16" "199" "16" "c.199+16C>G" "r.(=)" "p.(=)" "" "0000342655" "00000570" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Ter)" "" "0000344998" "00000570" "90" "260" "0" "261" "0" "c.260_261del" "r.(?)" "p.(Gln87ArgfsTer10)" "" "0000350872" "00000570" "30" "1602" "7" "1602" "7" "c.1602+7A>G" "r.(=)" "p.(=)" "" "0000395157" "00000570" "70" "1568" "0" "1568" "0" "c.1568A>C" "r.(?)" "p.(Asp523Ala)" "" "0000480155" "00000570" "90" "2414" "0" "2414" "0" "c.2414dup" "r.(?)" "p.(Tyr805*)" "" "0000500684" "00000570" "90" "723" "-2" "723" "-2" "c.723-2A>C" "r.723_824del" "p.Phe243_Phe276del" "" "0000573413" "00000570" "30" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Thr14Ile)" "" "0000573414" "00000570" "10" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(His51Arg)" "" "0000573415" "00000570" "30" "349" "14" "349" "14" "c.349+14C>T" "r.(=)" "p.(=)" "" "0000573416" "00000570" "10" "439" "3" "439" "3" "c.439+3A>G" "r.spl?" "p.?" "" "0000573417" "00000570" "30" "439" "3" "439" "3" "c.439+3A>G" "r.spl?" "p.?" "" "0000573418" "00000570" "30" "439" "3" "439" "3" "c.439+3A>G" "r.spl?" "p.?" "" "0000573419" "00000570" "30" "439" "3" "439" "3" "c.439+3A>G" "r.spl?" "p.?" "" "0000573420" "00000570" "30" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Gly147=)" "" "0000573421" "00000570" "10" "940" "-12" "940" "-12" "c.940-12C>T" "r.(=)" "p.(=)" "" "0000573422" "00000570" "30" "1275" "0" "1275" "0" "c.1275T>C" "r.(?)" "p.(Tyr425=)" "" "0000573424" "00000570" "30" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Asp431Asn)" "" "0000573426" "00000570" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Arg485Gln)" "" "0000573427" "00000570" "90" "1691" "0" "1694" "0" "c.1691_1694dup" "r.(?)" "p.(Leu565PhefsTer12)" "" "0000573428" "00000570" "30" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Arg663Gln)" "" "0000573429" "00000570" "90" "2098" "0" "2098" "0" "c.2098dup" "r.(?)" "p.(Thr700AsnfsTer26)" "" "0000573430" "00000570" "30" "2116" "-9" "2116" "-9" "c.2116-9C>T" "r.(=)" "p.(=)" "" "0000573431" "00000570" "50" "2368" "0" "2370" "0" "c.2368_2370dup" "r.(?)" "p.(Ala790dup)" "" "0000573432" "00000570" "50" "2471" "0" "2471" "0" "c.2471T>C" "r.(?)" "p.(Val824Ala)" "" "0000573433" "00000570" "30" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Val855Ile)" "" "0000618982" "00000570" "30" "200" "-7" "200" "-7" "c.200-7dup" "r.(=)" "p.(=)" "" "0000618983" "00000570" "90" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Trp90Ter)" "" "0000618984" "00000570" "50" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Pro200Arg)" "" "0000618985" "00000570" "30" "633" "0" "633" "0" "c.633A>G" "r.(?)" "p.(Val211=)" "" "0000618986" "00000570" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Cys370=)" "" "0000624411" "00000570" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asn59Ser)" "" "0000659076" "00000570" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000682076" "00000570" "30" "40" "0" "40" "0" "c.40A>G" "r.(?)" "p.(Thr14Ala)" "" "0000682077" "00000570" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Trp)" "" "0000682078" "00000570" "50" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "" "0000683566" "00000570" "70" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Gln827*)" "" "0000728402" "00000570" "30" "1128" "0" "1128" "0" "c.1128G>T" "r.(?)" "p.(Leu376=)" "" "0000728403" "00000570" "30" "1416" "0" "1416" "0" "c.1416G>A" "r.(?)" "p.(Lys472=)" "" "0000728404" "00000570" "30" "2341" "1" "2341" "1" "c.2341+1G>A" "r.spl?" "p.?" "" "0000786974" "00000570" "70" "827" "0" "827" "0" "c.827T>C" "r.(?)" "p.(Phe276Ser)" "10" "0000787601" "00000570" "50" "439" "3" "439" "3" "c.439+3A>G" "r.spl" "p.?" "6i" "0000809864" "00000570" "30" "40" "-5" "40" "-5" "c.40-5C>T" "r.spl?" "p.?" "" "0000809865" "00000570" "30" "40" "-5" "40" "-5" "c.40-5C>T" "r.spl?" "p.?" "" "0000809866" "00000570" "30" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Thr14Ile)" "" "0000809867" "00000570" "30" "1880" "-4" "1880" "-4" "c.1880-4T>C" "r.spl?" "p.?" "" "0000840985" "00000570" "90" "239" "-4023" "239" "-4023" "c.239-4023A>G" "r.c.238_239ins[g;239-4022_239-3958]" "p.Gly81Lysfs*2" "4i" "0000856332" "00000570" "50" "351" "0" "351" "0" "c.351T>G" "r.(?)" "p.(Ala117=)" "" "0000856333" "00000570" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Ser648=)" "" "0000867027" "00000570" "50" "16" "0" "16" "0" "c.16C>G" "r.(?)" "p.(Pro6Ala)" "" "0000873481" "00000570" "70" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Gly347Glu)" "" "0000873524" "00000570" "70" "" "0" "" "0" "c.(2139+1_2140-1)_(2581+1_2582-1)" "r.(?)" "p.(?)" "" "0000873596" "00000570" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Asp270Asn)" "" "0000895919" "00000570" "30" "239" "-20" "239" "-20" "c.239-20T>C" "r.(=)" "p.(=)" "" "0000895920" "00000570" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Ter)" "" "0000951675" "00000570" "50" "40" "0" "40" "0" "c.40A>G" "r.(?)" "p.(Thr14Ala)" "" "0000951676" "00000570" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Gln38*)" "" "0000951677" "00000570" "50" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Ala395Val)" "" "0000954830" "00000570" "50" "439" "3" "439" "3" "c.439+3A>G" "r.spl" "p.?" "" "0000954973" "00000570" "70" "1919" "0" "1920" "0" "c.1919_1920del" "r.(?)" "p.(Lys640ArgfsTer12)" "" "0000970716" "00000570" "50" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Tyr623Cys)" "" "0001006413" "00000570" "50" "1541" "0" "1541" "0" "c.1541G>A" "r.(?)" "p.(Arg514Gln)" "" "0001006414" "00000570" "30" "2144" "0" "2144" "0" "c.2144A>T" "r.(?)" "p.(Lys715Ile)" "" "0001029803" "00000570" "90" "940" "-11" "940" "-11" "c.940-11G>A" "r.spl" "p.?" "" "0001048334" "00000570" "10" "1245" "-68" "1245" "-68" "c.1245-68C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007611" "0000000209" "0000007612" "0000000209" "0000007613" "0000000210" "0000009745" "0000000210" "0000011202" "0000000210" "0000015581" "0000050607" "0000079587" "0000175286" "0000395157" "0000236446" "0000480155" "0000247800" "0000500684" "0000309103" "0000683566" "0000375623" "0000786974" "0000375986" "0000787601" "0000405002" "0000840985" "0000415643" "0000873481" "0000415674" "0000873524" "0000415721" "0000873596" "0000446490" "0000954830" "0000446620" "0000954973" "0000465991" "0001029803" "0000468500" "0001048334"