### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPIB) # 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}}" "PPIB" "peptidylprolyl isomerase B" "15" "q22.31" "unknown" "LRG_10" "UD_132085314001" "" "https://www.LOVD.nl/PPIB" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "9255" "5479" "123841" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/PPIB_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2022-04-05 13:08:45" "00000" "2025-11-01 13:22:20" ## 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}}" "00016620" "PPIB" "peptidylprolyl isomerase B (cyclophilin B)" "001" "NM_000942.4" "" "NP_000933.1" "" "" "" "-169" "859" "651" "64455354" "64448014" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01988" "OI9" "osteogenesis imperfecta type IX (OI9)" "AR" "259440" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 12:22:38" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPIB" "01988" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00331548" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0810" "00372990" "" "" "" "1" "" "00085" "{PMID:Jiang 2017:28242392}" "" "" "" "China" "" "0" "" "" "" "III-2" "00372991" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 1011" "00372992" "" "" "" "1" "" "00085" "{PMID:Barnes 2010:20089953}" "The RefSeq transcript record NM_000942.4 has a corresponding protein sequence (NP_000933.1) with Met at positions 1 and 9. Met1 is conserved in many higher eukaryotes but full conservation begins at Met9. The authors present Met9 as the start codon, as a homozygous T>G substitution at this position leads to decreased transcripts and absence of protein. ; These issues are further discussed by {PMID:van Dijk et al., 2010:20484404} with a reply by the original authors.; The patient\'s elder sibling is also homozygous for the same variant. A subsequent clinical report of the proband is presented by {PMID:Drefus et al., 2015:25737674}." "F" "" "Senegal" "" "0" "" "" "" "Patient III-4" "00372993" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "" "" "" "" "" "0" "" "" "" "P6" "00372994" "" "" "" "1" "" "03704" "{PMID:Pyott 2011:21282188}" "" "" "" "" "" "0" "" "" "" "P2 (II-4)" "00372995" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00372996" "" "" "" "1" "" "00085" "{PMID:Stephen 2015:25450603}" "The parents are consanguineous and confirmed to be heterozygous for the variant." "" "yes" "India" "" "0" "" "" "" "Patient 1" "00372997" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00372998" "" "" "" "1" "" "03704" "{PMID:Pyott 2011:21282188}" "" "" "" "Viet Nam" "" "0" "" "" "" "P3 (II-3)" "00372999" "" "" "" "1" "" "03704" "{PMID:Pyott 2011:21282188}" "The patient had a very samll chest and died at the age of 4 months form respiratory failure and pneumonia." "" "" "Mexico" "" "0" "" "" "" "P1 (II-3)" "00373000" "" "" "" "1" "" "00085" "{PMID:Van Dijk 2009:19781681}" "" "" "" "Pakistan" "" "0" "" "" "" "Family 2" "00373001" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373002" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Egypt" "" "0" "" "" "" "Family 4" "00373003" "" "" "" "1" "" "00085" "{PMID:van Dijk 2009:19781681}" "This case was subsequently presented in Figure 5A of {PMID22570641:van Dijk et al., 2011}" "" "" "" "" "0" "" "" "Europe-N" "Family 1" "00373004" "" "" "" "1" "" "03863" "{PMID:Barnes 2012:22718341}" "This family had two affected children with lethal OI whose father is Proband 2." "" "" "Palestine" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00331548" "05517" "00372990" "05296" "00372991" "05296" "00372992" "05296" "00372993" "05296" "00372994" "05296" "00372995" "00198" "00372996" "05296" "00372997" "00198" "00372998" "05296" "00372999" "05296" "00373000" "05296" "00373001" "00198" "00373002" "05296" "00373003" "05296" "00373004" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01988, 05296, 05517 ## 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}}" "0000249740" "05517" "00331548" "00000" "Familial, autosomal recessive" "" "Multiple prenatal fractures, Narrow chest, Neonatal respiratory distress, Osteopenia, WorYes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000268266" "05296" "00372990" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IX" "" "0000268267" "05296" "00372991" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268268" "05296" "00372992" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268269" "05296" "00372993" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI I" "" "0000268270" "05296" "00372994" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268271" "00198" "00372995" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268272" "05296" "00372996" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268273" "00198" "00372997" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268274" "05296" "00372998" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III/IV" "" "0000268275" "05296" "00372999" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268276" "05296" "00373000" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268277" "00198" "00373001" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268278" "05296" "00373002" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268279" "05296" "00373003" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IIB" "" "0000268280" "05296" "00373004" "03863" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IX" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000332767" "00331548" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374224" "00372990" "1" "00085" "00085" "2017-03-01 11:37:07" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374225" "00372991" "1" "00085" "00085" "2017-03-17 10:42:50" "" "" "PCR;SEQ" "DNA" "" "" "0000374226" "00372992" "1" "00085" "00085" "2010-01-22 13:28:04" "00085" "2015-03-09 10:11:10" "PCR;SEQ" "DNA" "" "" "0000374227" "00372993" "1" "00085" "00085" "2015-12-08 11:22:34" "00085" "2015-12-08 11:24:31" "PCR;SEQ;SSCA" "DNA" "" "" "0000374228" "00372994" "1" "03704" "00085" "2009-11-23 12:55:19" "00085" "2011-02-16 13:51:42" "PCR;SEQ" "DNA" "" "" "0000374229" "00372995" "1" "00085" "00085" "2009-11-30 12:17:50" "" "" "?" "?" "" "" "0000374230" "00372996" "1" "00085" "00085" "2015-04-14 15:04:46" "" "" "PCR;SEQ" "DNA" "" "" "0000374231" "00372997" "1" "00085" "00085" "2009-11-30 12:16:11" "" "" "?" "?" "" "" "0000374232" "00372998" "1" "03704" "00085" "2009-11-23 13:02:47" "00085" "2011-02-17 13:39:18" "PCR;SEQ" "DNA" "" "" "0000374233" "00372999" "1" "03704" "00085" "2009-11-23 12:49:45" "00085" "2011-02-16 13:52:32" "PCR;SEQ" "DNA" "" "" "0000374234" "00373000" "1" "00085" "00085" "2009-09-29 15:12:33" "00085" "2011-02-16 13:39:39" "PCR;SEQ" "DNA" "" "" "0000374235" "00373001" "1" "00085" "00085" "2009-11-30 12:14:33" "" "" "?" "?" "" "" "0000374236" "00373002" "1" "03864" "03864" "2012-12-31 12:43:43" "00085" "2013-04-26 11:43:57" "SEQ" "DNA" "" "" "0000374237" "00373003" "1" "00085" "00085" "2009-09-29 15:16:14" "00085" "2017-04-24 14:41:49" "PCR;SEQ" "DNA" "" "" "0000374238" "00373004" "1" "03863" "03863" "2012-02-02 16:47:56" "00085" "2012-10-29 13:32:21" "PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000332767" "PPIB" "0000374224" "PPIB" "0000374225" "PPIB" "0000374226" "PPIB" "0000374227" "PPIB" "0000374228" "PPIB" "0000374229" "PPIB" "0000374230" "PPIB" "0000374231" "PPIB" "0000374232" "PPIB" "0000374233" "PPIB" "0000374234" "PPIB" "0000374235" "PPIB" "0000374236" "PPIB" "0000374237" "PPIB" "0000374238" "PPIB" ## 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 = 28 "{{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}}" "0000299066" "0" "10" "15" "64452322" "64452322" "subst" "0.01433" "02329" "PPIB_000008" "g.64452322G>A" "" "" "" "PPIB(NM_000942.5):c.324C>T (p.T108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64160123G>A" "" "benign" "" "0000299067" "0" "10" "15" "64455123" "64455123" "subst" "0.0523946" "02329" "PPIB_000010" "g.64455123G>T" "" "" "" "PPIB(NM_000942.5):c.63C>A (p.S21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64162924G>T" "" "benign" "" "0000555129" "0" "30" "15" "64455101" "64455101" "subst" "0.00057062" "02329" "PPIB_000019" "g.64455101C>T" "" "" "" "PPIB(NM_000942.5):c.85G>A (p.G29R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64162902C>T" "" "likely benign" "" "0000623282" "0" "30" "15" "64458294" "64458294" "del" "0" "02330" "CSNK1G1_000004" "g.64458294del" "" "" "" "CSNK1G1(NM_022048.4):c.*5848delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64166095del" "" "likely benign" "" "0000680256" "0" "50" "15" "64448228" "64448228" "del" "0" "01943" "PPIB_000018" "g.64448228del" "" "" "" "PPIB(NM_000942.4):c.646delG (p.E216Sfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730049" "3" "90" "15" "64449001" "64449001" "subst" "0" "00000" "PPIB_000001" "g.64449001G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000942.4:c.451C>T:p.(Gln151*)" "" "Germline" "" "" "0" "" "" "g.64156802G>A" "" "pathogenic (recessive)" "" "0000784957" "11" "99" "15" "64455161" "64455161" "subst" "0" "00085" "PPIB_000016" "g.64455161T>C" "" "{PMID:Jiang 2017:28242392}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784958" "3" "99" "15" "64455161" "64455161" "subst" "0" "00085" "PPIB_000016" "g.64455161T>C" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784959" "3" "99" "15" "64455160" "64455160" "subst" "0" "00085" "PPIB_000011" "g.64455160A>C" "" "{PMID:Barnes 2010:20089953}" "NlaIII-" "c.2T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784960" "0" "11" "15" "64455123" "64455123" "subst" "0.0523946" "00085" "PPIB_000010" "g.64455123G>T" "" "{PMID:Barbirato 2015:26634552}" "" "" "variant has been found in OI patients and in normal controls" "Germline" "" "rs4904" "0" "" "" "" "" "benign" "" "0000784961" "21" "99" "15" "64455066" "64455066" "del" "0" "03704" "PPIB_000004" "g.64455066del" "" "{PMID:Pyott 2011:21282188}" "" "c.120delC" "The deletion (maternal allele) leads to NMD of the mRNA and the substitution (paternal allele) destabilises the protein." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784962" "0" "51" "15" "64454311" "64454311" "subst" "0" "00085" "PPIB_000009" "g.64454311C>A" "" "" "" "" "" "Germline" "" "rs11558595" "0" "" "" "" "" "VUS" "" "0000784963" "11" "99" "15" "64452333" "64452333" "subst" "2.03028E-5" "03704" "PPIB_000005" "g.64452333C>T" "" "{PMID:Pyott 2011:21282188}" "" "" "The deletion (maternal allele) leads to NMD of the mRNA and the substitution (paternal allele) destabilises the protein." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784964" "3" "99" "15" "64452344" "64452344" "subst" "0" "00085" "PPIB_000014" "g.64452344A>T" "" "{PMID:Stephen 2015:25450603}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784965" "0" "51" "15" "64452322" "64452322" "subst" "0.01433" "00085" "PPIB_000008" "g.64452322G>A" "" "" "" "" "" "Germline" "" "rs2307247" "0" "" "" "" "" "VUS" "" "0000784966" "3" "99" "15" "64452302" "64452302" "subst" "1.21821E-5" "03704" "PPIB_000006" "g.64452302C>T" "" "{PMID:Pyott 2011:21282188}" "" "" "The variant leads to retention of 27 bases of intron 3 in the stable RNA and also to exon 3 skipping (unstable)." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784967" "0" "31" "15" "64449135" "64449135" "subst" "0.00207219" "00085" "PPIB_000015" "g.64449135G>A" "" "{PMID:Barbirato 2015:26634552}" "" "" "absent in 100 control samples" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000784968" "3" "99" "15" "64449029" "64449038" "del" "8.1211E-6" "03704" "PPIB_000003" "g.64449029_64449038del" "" "{PMID:Pyott 2011:21282188}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784969" "3" "99" "15" "64449001" "64449001" "subst" "0" "00085" "PPIB_000001" "g.64449001G>A" "" "{PMID:Van Dijk 2009:19781681}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784970" "0" "51" "15" "64448960" "64448960" "subst" "0" "00085" "PPIB_000007" "g.64448960G>C" "" "" "" "" "" "Germline" "" "rs28720193" "0" "" "" "" "" "VUS" "" "0000784971" "3" "99" "15" "64448955" "64448955" "subst" "0" "03864" "PPIB_000013" "g.64448955T>G" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784972" "21" "99" "15" "64448943" "64448943" "subst" "5.68482E-5" "00085" "PPIB_000017" "g.64448943C>T" "" "{PMID:Jiang 2017:28242392}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784973" "3" "99" "15" "64448314" "64448317" "del" "0" "00085" "PPIB_000002" "g.64448314_64448317del" "" "{PMID:van Dijk 2009:19781681}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784974" "3" "79" "15" "64448307" "64448310" "del" "8.14923E-6" "03863" "PPIB_000012" "g.64448307_64448310del" "" "{PMID:Barnes 2012:22718341}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000930414" "0" "30" "15" "64454228" "64454228" "subst" "0.00059286" "02329" "CSNK1G1_000006" "g.64454228C>T" "" "" "" "PPIB(NM_000942.5):c.249+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967884" "0" "30" "15" "64458294" "64458294" "del" "0" "02329" "CSNK1G1_000004" "g.64458294del" "" "" "" "CSNK1G1(NM_022048.5):c.*5848delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026480" "0" "10" "15" "64454221" "64454221" "subst" "0.00110862" "02329" "CSNK1G1_000011" "g.64454221C>A" "" "" "" "PPIB(NM_000942.5):c.249+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055159" "0" "50" "15" "64454314" "64454314" "subst" "0" "01804" "CSNK1G1_000014" "g.64454314G>A" "" "" "" "PPIB(NM_000942.5):c.175C>T (p.(Arg59Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PPIB ## Count = 28 "{{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}}" "0000299066" "00016620" "10" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Thr108=)" "" "0000299067" "00016620" "10" "63" "0" "63" "0" "c.63C>A" "r.(?)" "p.(Ser21=)" "" "0000555129" "00016620" "30" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Gly29Arg)" "" "0000623282" "00016620" "30" "-3097" "0" "-3097" "0" "c.-3097del" "r.(?)" "p.(=)" "" "0000680256" "00016620" "50" "646" "0" "646" "0" "c.646del" "r.(?)" "p.(Glu216SerfsTer58)" "" "0000730049" "00016620" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Gln151*)" "" "0000784957" "00016620" "99" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Met9Val)" "1" "0000784958" "00016620" "99" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Met9Val)" "1" "0000784959" "00016620" "99" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Met9Arg)" "1" "0000784960" "00016620" "11" "63" "0" "63" "0" "c.63C>A" "r.(?)" "p.(Ser21=)" "1" "0000784961" "00016620" "99" "120" "0" "120" "0" "c.120del" "r.(?)" "p.(Val42Serfs*16)" "1" "0000784962" "00016620" "51" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "2" "0000784963" "00016620" "99" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Arg)" "2" "0000784964" "00016620" "99" "302" "0" "302" "0" "c.302T>A" "r.(?)" "p.(Met101Lys)" "3" "0000784965" "00016620" "51" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(=)" "3" "0000784966" "00016620" "99" "343" "1" "343" "1" "c.343+1G>A" "r.spl" "p.?" "3i" "0000784967" "00016620" "31" "344" "-27" "344" "-27" "c.344-27C>T" "r.(?)" "p.(=)" "3i" "0000784968" "00016620" "99" "414" "0" "423" "0" "c.414_423del" "r.(?)" "p.(Ser139Thrfs*21)" "4" "0000784969" "00016620" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Gln151*)" "4" "0000784970" "00016620" "51" "492" "0" "492" "0" "c.492C>G" "r.(?)" "p.(=)" "4" "0000784971" "00016620" "99" "497" "0" "497" "0" "c.497A>C" "r.(?)" "p.(His166Pro)" "4" "0000784972" "00016620" "99" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Gly170Asp)" "4" "0000784973" "00016620" "99" "556" "0" "559" "0" "c.556_559del" "r.(?)" "p.(Lys186Glnfs*8)" "5" "0000784974" "00016620" "79" "563" "0" "566" "0" "c.563_566del" "r.(?)" "p.(Asp188Alafs*6)" "5" "0000930414" "00016620" "30" "249" "12" "249" "12" "c.249+12G>A" "r.(=)" "p.(=)" "" "0000967884" "00016620" "30" "-3097" "0" "-3097" "0" "c.-3097del" "r.(?)" "p.(=)" "" "0001026480" "00016620" "10" "249" "19" "249" "19" "c.249+19G>T" "r.(=)" "p.(=)" "" "0001055159" "00016620" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000332767" "0000730049" "0000374224" "0000784957" "0000374224" "0000784972" "0000374225" "0000784958" "0000374226" "0000784959" "0000374227" "0000784960" "0000374227" "0000784967" "0000374228" "0000784961" "0000374228" "0000784963" "0000374229" "0000784962" "0000374230" "0000784964" "0000374231" "0000784965" "0000374232" "0000784966" "0000374233" "0000784968" "0000374234" "0000784969" "0000374235" "0000784970" "0000374236" "0000784971" "0000374237" "0000784973" "0000374238" "0000784974"