### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCLO) # 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}}" "PCLO" "piccolo presynaptic cytomatrix protein" "7" "q11.23-q21.3" "unknown" "NG_047145.1" "UD_136019660186" "" "https://www.LOVD.nl/PCLO" "" "1" "13406" "27445" "604918" "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/PCLO_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-07 19:55:07" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025343" "PCLO" "transcript variant 1" "001" "NM_033026.5" "" "NP_149015.2" "" "" "" "-289" "19999" "15429" "82792197" "82383321" "00006" "2018-12-07 19:56:24" "" "" ## 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" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "04608" "PCH3" "hypoplasia, pontocerebellar?, type 3 (PCH-3)" "AR" "608027" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PCLO" "04608" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00207897" "" "" "" "2" "" "03121" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "MZ twins, Asian, age unknown.\r\nProband diagnosed with schizophrenia, MZ twin diagnosed with schizotypal personality disorder." "M" "" "" "" "0" "" "" "" "RIKEN twins" "00271468" "" "" "" "1" "" "02061" "" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00433380" "" "" "" "1" "" "04480" "" "" "M" "no" "? (unknown)" "" "" "" "" "" "" "00448221" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat119" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00207897" "00212" "00271468" "00291" "00433380" "00198" "00448221" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00212, 00291, 04608 ## Count = 3 "{{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}}" "0000155681" "00212" "00207897" "03121" "Unknown" "" "Proband was diagnosed with schizophrenia. MZ twin was diagnosed with schizotypal personality disorder." "" "" "" "" "" "" "" "" "" "" "" "0000323900" "00198" "00433380" "04480" "Unknown" "03y05m" "congenital microcephaly, stenosis of the external auditory canal, epicanthus, long palpebral fissures, long philtrum, thin upper lip vermilion, delayed speech and language development, global developmental delay, muscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000337431" "00198" "00448221" "00006" "Familial, autosomal recessive" "1m" "microcephaly; cerebellar hypoplasia; optic nerve hypoplasia; supernumerary nipple; wolff-parkinson-white syndrome; ventricular septal defects; dysmorphic facial features" "" "" "" "" "" "" "" "" "" "rare disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208941" "00207897" "1" "03121" "03121" "2018-12-02 21:05:24" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000272622" "00271468" "1" "02061" "02061" "2019-12-19 16:52:16" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000434834" "00433380" "1" "04480" "04480" "2023-03-07 17:21:36" "" "" "SEQ-NG-I" "RNA" "" "trio-WES" "0000449796" "00448221" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 118 "{{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}}" "0000246585" "0" "10" "7" "82544987" "82544987" "subst" "0.30367" "02330" "PCLO_000015" "g.82544987A>G" "" "" "" "PCLO(NM_033026.6):c.12315T>C (p.H4105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82915671A>G" "" "benign" "" "0000246601" "0" "10" "7" "82453708" "82453708" "subst" "0.452129" "02330" "PCLO_000013" "g.82453708A>C" "" "" "" "PCLO(NM_033026.6):c.14440T>G (p.S4814A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82824392A>C" "" "benign" "" "0000246623" "0" "10" "7" "82455895" "82455895" "subst" "0.448837" "02330" "PCLO_000014" "g.82455895A>G" "" "" "" "PCLO(NM_033026.6):c.14415+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82826579A>G" "" "benign" "" "0000254308" "0" "30" "7" "82582834" "82582834" "subst" "1.62656E-5" "01943" "PCLO_000002" "g.82582834A>G" "" "" "" "PCLO(NM_033026.5):c.7435T>C (p.C2479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82953518A>G" "" "likely benign" "" "0000254973" "0" "30" "7" "82785509" "82785509" "subst" "0" "01943" "PCLO_000011" "g.82785509A>T" "" "" "" "PCLO(NM_033026.5):c.448T>A (p.S150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83156193A>T" "" "likely benign" "" "0000254982" "0" "30" "7" "82584704" "82584704" "subst" "0.000899024" "01943" "PCLO_000004" "g.82584704A>G" "" "" "" "PCLO(NM_033026.5):c.5565T>C (p.S1855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82955388A>G" "" "likely benign" "" "0000255170" "0" "30" "7" "82545368" "82545368" "subst" "5.2957E-5" "01943" "PCLO_000016" "g.82545368A>G" "" "" "" "PCLO(NM_033026.5):c.11934T>C (p.Y3978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82916052A>G" "" "likely benign" "" "0000293484" "0" "10" "7" "82435033" "82435033" "subst" "0.154824" "02330" "PCLO_000022" "g.82435033C>T" "" "" "" "PCLO(NM_033026.6):c.14904G>A (p.G4968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82805717C>T" "" "benign" "" "0000293485" "0" "10" "7" "82764425" "82764425" "subst" "0.755237" "02330" "PCLO_000008" "g.82764425C>G" "" "" "" "PCLO(NM_033026.6):c.2441G>C (p.S814T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83135109C>G" "" "benign" "" "0000293486" "0" "10" "7" "82584095" "82584095" "subst" "0.00530411" "02330" "PCLO_000018" "g.82584095T>C" "" "" "" "PCLO(NM_033026.6):c.6174A>G (p.L2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82954779T>C" "" "benign" "" "0000293487" "0" "10" "7" "82785097" "82785097" "subst" "0.187538" "02330" "PCLO_000010" "g.82785097T>C" "" "" "" "PCLO(NM_033026.6):c.860A>G (p.D287G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83155781T>C" "" "benign" "" "0000305150" "0" "50" "7" "82430842" "82430842" "subst" "0.000464358" "01943" "PCLO_000021" "g.82430842T>C" "" "" "" "PCLO(NM_033026.5):c.14999A>G (p.D5000G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82801526T>C" "" "VUS" "" "0000305151" "0" "30" "7" "82764006" "82764006" "subst" "2.8539E-5" "01943" "PCLO_000007" "g.82764006G>T" "" "" "" "PCLO(NM_033026.5):c.2860C>A (p.P954T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83134690G>T" "" "likely benign" "" "0000305152" "0" "30" "7" "82785646" "82785646" "subst" "0.000337305" "01943" "PCLO_000012" "g.82785646C>T" "" "" "" "PCLO(NM_033026.5):c.311G>A (p.R104H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83156330C>T" "" "likely benign" "" "0000305153" "0" "30" "7" "82595672" "82595672" "subst" "0.000211389" "01943" "PCLO_000006" "g.82595672T>C" "" "" "" "PCLO(NM_033026.5):c.3432A>G (p.S1144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82966356T>C" "" "likely benign" "" "0000305154" "0" "30" "7" "82585454" "82585454" "subst" "1.64654E-5" "01943" "PCLO_000005" "g.82585454T>A" "" "" "" "PCLO(NM_033026.5):c.4815A>T (p.A1605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82956138T>A" "" "likely benign" "" "0000305155" "0" "50" "7" "82584762" "82584762" "subst" "0" "01943" "PCLO_000019" "g.82584762G>T" "" "" "" "PCLO(NM_033026.5):c.5507C>A (p.A1836E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82955446G>T" "" "VUS" "" "0000305156" "0" "30" "7" "82584015" "82584015" "subst" "0.000199681" "01943" "PCLO_000003" "g.82584015G>T" "" "" "" "PCLO(NM_033026.5):c.6254C>A (p.A2085D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82954699G>T" "" "likely benign" "" "0000305157" "0" "50" "7" "82785003" "82785003" "subst" "4.06875E-6" "01943" "PCLO_000009" "g.82785003C>A" "" "" "" "PCLO(NM_033026.5):c.954G>T (p.Q318H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83155687C>A" "" "VUS" "" "0000331664" "0" "50" "7" "82581488" "82581490" "dup" "0" "01804" "PCLO_000001" "g.82581488_82581490dup" "" "" "" "PCLO(NM_014510.2):c.8781_8782insGAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82952172_82952174dup" "" "VUS" "" "0000331666" "0" "50" "7" "82583912" "82583912" "del" "0" "01804" "PCLO_000023" "g.82583912del" "" "" "" "PCLO(NM_014510.2):c.6357del (p.(Thr2120ProfsTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82954596del" "" "VUS" "" "0000438978" "0" "70" "7" "82784834" "82784835" "ins" "0" "03121" "PCLO_000020" "g.82784834_82784835insAGCTGGAGGCTTAGCAGGACCAAGAGG" "" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "" "" "Unknown" "" "" "0" "" "" "g.83155518_83155519insAGCTGGAGGCTTAGCAGGACCAAGAGG" "" "likely pathogenic" "" "0000532787" "0" "50" "7" "82389978" "82389978" "subst" "9.56182E-5" "02325" "PCLO_000025" "g.82389978T>A" "" "" "" "PCLO(NM_033026.5):c.15265A>T (p.S5089C), PCLO(NM_033026.6):c.15265A>T (p.S5089C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82760662T>A" "" "VUS" "" "0000532788" "0" "50" "7" "82390065" "82390065" "subst" "6.33944E-5" "01943" "PCLO_000026" "g.82390065T>C" "" "" "" "PCLO(NM_033026.5):c.15178A>G (p.T5060A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82760749T>C" "" "VUS" "" "0000532789" "0" "10" "7" "82435033" "82435033" "subst" "0.154824" "02325" "PCLO_000022" "g.82435033C>T" "" "" "" "PCLO(NM_033026.6):c.14904G>A (p.G4968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82805717C>T" "" "benign" "" "0000532790" "0" "30" "7" "82435066" "82435066" "subst" "0.00246931" "01943" "PCLO_000027" "g.82435066G>A" "" "" "" "PCLO(NM_033026.5):c.14871C>T (p.S4957=), PCLO(NM_033026.6):c.14871C>T (p.S4957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82805750G>A" "" "likely benign" "" "0000532791" "0" "30" "7" "82435066" "82435066" "subst" "0.00246931" "02325" "PCLO_000027" "g.82435066G>A" "" "" "" "PCLO(NM_033026.5):c.14871C>T (p.S4957=), PCLO(NM_033026.6):c.14871C>T (p.S4957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82805750G>A" "" "likely benign" "" "0000532792" "0" "50" "7" "82451900" "82451900" "subst" "0.00144351" "01943" "PCLO_000028" "g.82451900T>C" "" "" "" "PCLO(NM_033026.5):c.14702A>G (p.K4901R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82822584T>C" "" "VUS" "" "0000532793" "0" "10" "7" "82453708" "82453708" "subst" "0.452129" "02325" "PCLO_000013" "g.82453708A>C" "" "" "" "PCLO(NM_033026.6):c.14440T>G (p.S4814A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82824392A>C" "" "benign" "" "0000532794" "0" "10" "7" "82455895" "82455895" "subst" "0.448837" "02325" "PCLO_000014" "g.82455895A>G" "" "" "" "PCLO(NM_033026.6):c.14415+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82826579A>G" "" "benign" "" "0000532795" "0" "30" "7" "82457210" "82457210" "subst" "0.00028425" "01943" "PCLO_000029" "g.82457210A>G" "" "" "" "PCLO(NM_033026.5):c.14322T>C (p.Y4774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82827894A>G" "" "likely benign" "" "0000532796" "0" "50" "7" "82578925" "82578925" "subst" "0" "01943" "PCLO_000030" "g.82578925T>C" "" "" "" "PCLO(NM_033026.5):c.10979A>G (p.D3660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82949609T>C" "" "VUS" "" "0000532797" "0" "10" "7" "82579758" "82579758" "subst" "0.000874154" "01943" "PCLO_000031" "g.82579758A>C" "" "" "" "PCLO(NM_033026.5):c.10146T>G (p.T3382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82950442A>C" "" "benign" "" "0000532798" "0" "50" "7" "82580339" "82580339" "subst" "4.48007E-5" "01943" "PCLO_000032" "g.82580339C>T" "" "" "" "PCLO(NM_033026.5):c.9565G>A (p.E3189K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82951023C>T" "" "VUS" "" "0000532799" "0" "30" "7" "82580503" "82580503" "subst" "4.07525E-6" "01943" "PCLO_000033" "g.82580503T>C" "" "" "" "PCLO(NM_033026.5):c.9401A>G (p.H3134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82951187T>C" "" "likely benign" "" "0000532800" "0" "10" "7" "82580813" "82580813" "subst" "0.00222892" "01943" "PCLO_000034" "g.82580813T>C" "" "" "" "PCLO(NM_033026.5):c.9098-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82951497T>C" "" "benign" "" "0000532802" "0" "10" "7" "82581491" "82581493" "dup" "0" "02330" "PCLO_000036" "g.82581491_82581493dup" "" "" "" "PCLO(NM_033026.6):c.8778_8780dupTGA (p.D2926dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82952175_82952177dup" "" "benign" "" "0000532803" "0" "10" "7" "82581491" "82581493" "dup" "0" "02325" "PCLO_000036" "g.82581491_82581493dup" "" "" "" "PCLO(NM_033026.6):c.8778_8780dupTGA (p.D2926dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82952175_82952177dup" "" "benign" "" "0000532804" "0" "30" "7" "82581768" "82581768" "subst" "0.000618238" "01943" "PCLO_000037" "g.82581768G>A" "" "" "" "PCLO(NM_033026.5):c.8501C>T (p.P2834L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82952452G>A" "" "likely benign" "" "0000532805" "0" "10" "7" "82582664" "82582664" "subst" "0.00119407" "01943" "PCLO_000038" "g.82582664G>A" "" "" "" "PCLO(NM_033026.5):c.7605C>T (p.G2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82953348G>A" "" "benign" "" "0000532807" "0" "50" "7" "82584895" "82584895" "subst" "3.66417E-5" "01943" "PCLO_000039" "g.82584895G>C" "" "" "" "PCLO(NM_033026.5):c.5374C>G (p.Q1792E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82955579G>C" "" "VUS" "" "0000532808" "0" "50" "7" "82585303" "82585303" "subst" "8.13994E-5" "02325" "PCLO_000040" "g.82585303G>T" "" "" "" "PCLO(NM_033026.5):c.4966C>A (p.L1656I), PCLO(NM_033026.6):c.4966C>A (p.L1656I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82955987G>T" "" "VUS" "" "0000532809" "0" "10" "7" "82585664" "82585664" "subst" "0.00207115" "01943" "PCLO_000041" "g.82585664T>A" "" "" "" "PCLO(NM_033026.5):c.4605A>T (p.S1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82956348T>A" "" "benign" "" "0000532810" "0" "10" "7" "82585803" "82585803" "subst" "0.00103049" "01943" "PCLO_000042" "g.82585803G>C" "" "" "" "PCLO(NM_033026.5):c.4466C>G (p.S1489C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82956487G>C" "" "benign" "" "0000532811" "0" "50" "7" "82586165" "82586165" "subst" "0" "01943" "PCLO_000043" "g.82586165A>T" "" "" "" "PCLO(NM_033026.5):c.4104T>A (p.D1368E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82956849A>T" "" "VUS" "" "0000532812" "0" "30" "7" "82595130" "82595130" "subst" "4.48317E-5" "01943" "PCLO_000044" "g.82595130C>A" "" "" "" "PCLO(NM_033026.5):c.3974G>T (p.C1325F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82965814C>A" "" "likely benign" "" "0000532813" "0" "50" "7" "82763802" "82763803" "del" "0" "02329" "PCLO_000045" "g.82763802_82763803del" "" "" "" "PCLO(NM_033026.6):c.3064_3065delGA (p.E1022Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83134486_83134487del" "" "VUS" "" "0000532814" "0" "50" "7" "82764021" "82764021" "subst" "6.52177E-5" "01943" "PCLO_000046" "g.82764021C>A" "" "" "" "PCLO(NM_033026.5):c.2845G>T (p.A949S, p.(Ala949Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83134705C>A" "" "VUS" "" "0000532815" "0" "10" "7" "82764425" "82764425" "subst" "0.755237" "02325" "PCLO_000008" "g.82764425C>G" "" "" "" "PCLO(NM_033026.6):c.2441G>C (p.S814T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83135109C>G" "" "benign" "" "0000532816" "0" "30" "7" "82764800" "82764800" "subst" "0.00200625" "01943" "PCLO_000047" "g.82764800G>A" "" "" "" "PCLO(NM_033026.5):c.2066C>T (p.A689V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83135484G>A" "" "likely benign" "" "0000532817" "0" "30" "7" "82784106" "82784106" "subst" "0.000284285" "01943" "PCLO_000048" "g.82784106G>A" "" "" "" "PCLO(NM_033026.5):c.1851C>T (p.V617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83154790G>A" "" "likely benign" "" "0000532818" "0" "30" "7" "82784660" "82784660" "subst" "0.000406438" "01943" "PCLO_000049" "g.82784660C>T" "" "" "" "PCLO(NM_033026.5):c.1297G>A (p.A433T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83155344C>T" "" "likely benign" "" "0000532822" "0" "30" "7" "82784872" "82784872" "subst" "4.07897E-6" "01943" "PCLO_000053" "g.82784872G>A" "" "" "" "PCLO(NM_033026.5):c.1085C>T (p.P362L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83155556G>A" "" "likely benign" "" "0000532823" "0" "10" "7" "82785497" "82785497" "subst" "0.00297713" "01943" "PCLO_000054" "g.82785497G>T" "" "" "" "PCLO(NM_033026.5):c.460C>A (p.P154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83156181G>T" "" "benign" "" "0000532824" "0" "10" "7" "82785736" "82785736" "del" "0" "02325" "PCLO_000055" "g.82785736del" "" "" "" "PCLO(NM_033026.6):c.249-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83156420del" "" "benign" "" "0000611233" "0" "30" "7" "82582956" "82582956" "subst" "0.000771625" "01943" "PCLO_000056" "g.82582956A>G" "" "" "" "PCLO(NM_033026.5):c.7313T>C (p.L2438P, p.(Leu2438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82953640A>G" "" "likely benign" "" "0000621929" "0" "90" "7" "82764399" "82764399" "subst" "0" "02325" "PCLO_000057" "g.82764399G>A" "" "" "" "PCLO(NM_033026.6):c.2467C>T (p.R823*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83135083G>A" "" "pathogenic" "" "0000626556" "3" "50" "7" "82578986" "82578986" "subst" "0" "02061" "PCLO_000059" "g.82578986A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82949670A>G" "" "VUS" "" "0000655892" "0" "30" "7" "82580385" "82580385" "subst" "0.0015514" "01943" "PCLO_000060" "g.82580385A>G" "" "" "" "PCLO(NM_033026.5):c.9519T>C (p.L3173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82951069A>G" "" "likely benign" "" "0000655893" "0" "30" "7" "82785271" "82785271" "subst" "0.00203158" "01943" "PCLO_000061" "g.82785271G>A" "" "" "" "PCLO(NM_033026.5):c.686C>T (p.P229L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83155955G>A" "" "likely benign" "" "0000678181" "0" "50" "7" "82474616" "82474616" "subst" "0.000431772" "02327" "PCLO_000062" "g.82474616C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678182" "0" "50" "7" "82508736" "82508736" "subst" "0.00020625" "01943" "PCLO_000063" "g.82508736G>A" "" "" "" "PCLO(NM_033026.5):c.13571C>T (p.P4524L), PCLO(NM_033026.6):c.13571C>T (p.P4524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678183" "0" "30" "7" "82545246" "82545246" "subst" "4.0826E-6" "01943" "PCLO_000064" "g.82545246C>G" "" "" "" "PCLO(NM_033026.5):c.12056G>C (p.S4019T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678184" "0" "50" "7" "82545687" "82545687" "subst" "0" "01943" "PCLO_000065" "g.82545687G>T" "" "" "" "PCLO(NM_033026.5):c.11615C>A (p.T3872N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678185" "0" "30" "7" "82579755" "82579755" "subst" "5.693E-5" "01943" "PCLO_000066" "g.82579755C>T" "" "" "" "PCLO(NM_033026.5):c.10149G>A (p.Q3383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678186" "0" "50" "7" "82580708" "82580708" "subst" "0" "01943" "PCLO_000067" "g.82580708C>T" "" "" "" "PCLO(NM_033026.5):c.9196G>A (p.A3066T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678187" "0" "50" "7" "82582699" "82582699" "subst" "0" "01943" "PCLO_000068" "g.82582699G>A" "" "" "" "PCLO(NM_033026.5):c.7570C>T (p.Q2524*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678188" "0" "50" "7" "82584143" "82584143" "subst" "8.1471E-6" "02327" "PCLO_000069" "g.82584143T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678189" "0" "30" "7" "82784275" "82784275" "subst" "8.12275E-6" "01943" "PCLO_000070" "g.82784275G>A" "" "" "" "PCLO(NM_033026.5):c.1682C>T (p.T561I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678190" "0" "30" "7" "82784429" "82784429" "subst" "8.55084E-5" "01943" "PCLO_000071" "g.82784429G>A" "" "" "" "PCLO(NM_033026.5):c.1528C>T (p.P510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690081" "0" "30" "7" "82390006" "82390006" "subst" "9.14487E-5" "02325" "PCLO_000072" "g.82390006C>T" "" "" "" "PCLO(NM_033026.6):c.15237G>A (p.S5079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690082" "0" "50" "7" "82579504" "82579504" "subst" "4.06749E-6" "02325" "PCLO_000073" "g.82579504C>T" "" "" "" "PCLO(NM_033026.6):c.10400G>A (p.S3467N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690083" "0" "50" "7" "82585871" "82585873" "del" "0" "02325" "PCLO_000074" "g.82585871_82585873del" "" "" "" "PCLO(NM_033026.6):c.4399_4401delGAG (p.E1467del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721564" "0" "50" "7" "82470811" "82470811" "del" "0" "01943" "PCLO_000075" "g.82470811del" "" "" "" "PCLO(NM_033026.5):c.14063delA (p.K4688Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721565" "0" "30" "7" "82544945" "82544945" "subst" "0.000835126" "01943" "PCLO_000076" "g.82544945G>A" "" "" "" "PCLO(NM_033026.5):c.12357C>T (p.Y4119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721566" "0" "30" "7" "82595675" "82595675" "subst" "0.000199182" "01943" "PCLO_000077" "g.82595675T>C" "" "" "" "PCLO(NM_033026.5):c.3429A>G (p.S1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803259" "0" "50" "7" "82389978" "82389978" "subst" "9.56182E-5" "01943" "PCLO_000025" "g.82389978T>A" "" "" "" "PCLO(NM_033026.5):c.15265A>T (p.S5089C), PCLO(NM_033026.6):c.15265A>T (p.S5089C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803260" "0" "30" "7" "82580313" "82580313" "subst" "0.00266726" "01943" "PCLO_000078" "g.82580313A>T" "" "" "" "PCLO(NM_033026.5):c.9591T>A (p.D3197E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803261" "0" "50" "7" "82583160" "82583160" "del" "0" "01943" "PCLO_000079" "g.82583160del" "" "" "" "PCLO(NM_033026.5):c.7113delA (p.K2371Nfs*73)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803262" "0" "30" "7" "82583852" "82583852" "subst" "4.07329E-6" "01943" "PCLO_000080" "g.82583852T>C" "" "" "" "PCLO(NM_033026.5):c.6417A>G (p.E2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803263" "0" "30" "7" "82585303" "82585303" "subst" "8.13994E-5" "01943" "PCLO_000040" "g.82585303G>T" "" "" "" "PCLO(NM_033026.5):c.4966C>A (p.L1656I), PCLO(NM_033026.6):c.4966C>A (p.L1656I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851674" "0" "30" "7" "82581910" "82581910" "subst" "0.000109806" "01943" "PCLO_000084" "g.82581910G>A" "" "" "" "PCLO(NM_033026.5):c.8359C>T (p.P2787S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851675" "0" "30" "7" "82584314" "82584314" "subst" "9.76412E-5" "01943" "PCLO_000085" "g.82584314C>T" "" "" "" "PCLO(NM_033026.5):c.5955G>A (p.Q1985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860918" "0" "30" "7" "82508669" "82508669" "subst" "0.000269888" "01943" "PCLO_000081" "g.82508669C>T" "" "" "" "PCLO(NM_033026.5):c.13638G>A (p.T4546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860919" "0" "30" "7" "82544057" "82544057" "subst" "0" "01943" "PCLO_000082" "g.82544057G>A" "" "" "" "PCLO(NM_033026.5):c.13245C>T (p.D4415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860920" "0" "50" "7" "82578811" "82578811" "subst" "0" "01943" "PCLO_000083" "g.82578811T>G" "" "" "" "PCLO(NM_033026.5):c.11093A>C (p.Q3698P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860921" "0" "30" "7" "82595361" "82595361" "subst" "0.000175084" "01943" "PCLO_000086" "g.82595361A>G" "" "" "" "PCLO(NM_033026.5):c.3743T>C (p.L1248P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860922" "0" "30" "7" "82763683" "82763683" "subst" "0" "01943" "PCLO_000087" "g.82763683G>A" "" "" "" "PCLO(NM_033026.5):c.3183C>T (p.L1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860923" "0" "30" "7" "82763904" "82763904" "subst" "1.21883E-5" "01943" "PCLO_000088" "g.82763904G>A" "" "" "" "PCLO(NM_033026.5):c.2962C>T (p.P988S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860924" "0" "30" "7" "82763982" "82763982" "subst" "0.000342245" "01943" "PCLO_000089" "g.82763982C>T" "" "" "" "PCLO(NM_033026.5):c.2884G>A (p.A962T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860925" "0" "30" "7" "82764393" "82764393" "subst" "0.00604318" "01943" "PCLO_000090" "g.82764393C>T" "" "" "" "PCLO(NM_033026.5):c.2473G>A (p.A825T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860926" "0" "50" "7" "82784798" "82784798" "subst" "8.14352E-6" "01943" "PCLO_000091" "g.82784798C>A" "" "" "" "PCLO(NM_033026.5):c.1159G>T (p.G387W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887987" "0" "50" "7" "82545765" "82545765" "subst" "4.8773E-5" "02325" "PCLO_000092" "g.82545765C>T" "" "" "" "PCLO(NM_033026.6):c.11537G>A (p.R3846Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887988" "0" "50" "7" "82582570" "82582570" "subst" "8.94425E-5" "02325" "PCLO_000093" "g.82582570T>G" "" "" "" "PCLO(NM_033026.6):c.7699A>C (p.K2567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920727" "0" "70" "7" "82764675" "82764675" "subst" "0" "04480" "PCLO_000094" "g.82764675T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83135359T>A" "" "VUS" "" "0000960279" "11" "50" "7" "82544488" "82544488" "subst" "7.14247E-5" "00006" "PCLO_000095" "g.82544488G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.82915172G>A" "1378579" "VUS" "" "0000960287" "21" "50" "7" "82784301" "82784301" "subst" "0" "00006" "PCLO_000096" "g.82784301C>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.83154985C>A" "" "VUS" "" "0000977865" "0" "50" "7" "82583737" "82583737" "subst" "2.84662E-5" "02325" "PCLO_000097" "g.82583737G>C" "" "" "" "PCLO(NM_033026.6):c.6532C>G (p.P2178A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977866" "0" "50" "7" "82585453" "82585453" "subst" "1.23487E-5" "02325" "PCLO_000098" "g.82585453C>T" "" "" "" "PCLO(NM_033026.6):c.4816G>A (p.G1606R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996673" "0" "30" "7" "82581276" "82581276" "subst" "3.25169E-5" "01804" "PCLO_000099" "g.82581276T>C" "" "" "" "PCLO(NM_033026.5):c.8993A>G (p.(Asn2998Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996674" "0" "30" "7" "82581523" "82581523" "subst" "1.21999E-5" "01804" "PCLO_000100" "g.82581523T>G" "" "" "" "PCLO(NM_033026.5):c.8746A>C (p.(Thr2916Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996675" "0" "30" "7" "82581525" "82581525" "subst" "0" "01804" "PCLO_000101" "g.82581525G>C" "" "" "" "PCLO(NM_033026.5):c.8744C>G (p.(Ser2915Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996676" "0" "50" "7" "82582078" "82582078" "subst" "9.01255E-5" "01804" "PCLO_000102" "g.82582078G>A" "" "" "" "PCLO(NM_033026.5):c.8191C>T (p.(Arg2731Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996677" "0" "30" "7" "82582546" "82582546" "subst" "9.34747E-5" "01804" "PCLO_000103" "g.82582546A>G" "" "" "" "PCLO(NM_033026.5):c.7723T>C (p.(Ser2575Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996678" "0" "30" "7" "82582956" "82582956" "subst" "0.000771625" "01804" "PCLO_000056" "g.82582956A>G" "" "" "" "PCLO(NM_033026.5):c.7313T>C (p.L2438P, p.(Leu2438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996679" "0" "50" "7" "82583052" "82583052" "subst" "0" "01804" "PCLO_000104" "g.82583052G>A" "" "" "" "PCLO(NM_033026.5):c.7217C>T (p.(Pro2406Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996680" "0" "30" "7" "82585825" "82585825" "subst" "0" "01804" "PCLO_000105" "g.82585825C>A" "" "" "" "PCLO(NM_033026.5):c.4444G>T (p.(Asp1482Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996681" "0" "50" "7" "82586186" "82586186" "subst" "0" "01804" "PCLO_000106" "g.82586186G>T" "" "" "" "PCLO(NM_033026.5):c.4083C>A (p.(Ser1361Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996682" "0" "30" "7" "82595653" "82595653" "subst" "0.000142306" "01804" "PCLO_000107" "g.82595653G>C" "" "" "" "PCLO(NM_033026.5):c.3451C>G (p.(Pro1151Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996683" "0" "30" "7" "82764021" "82764021" "subst" "6.52177E-5" "01804" "PCLO_000046" "g.82764021C>A" "" "" "" "PCLO(NM_033026.5):c.2845G>T (p.A949S, p.(Ala949Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025431" "0" "30" "7" "82508736" "82508736" "subst" "0.00020625" "02325" "PCLO_000063" "g.82508736G>A" "" "" "" "PCLO(NM_033026.5):c.13571C>T (p.P4524L), PCLO(NM_033026.6):c.13571C>T (p.P4524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025432" "0" "30" "7" "82545244" "82545244" "subst" "0.000163264" "02325" "PCLO_000108" "g.82545244T>C" "" "" "" "PCLO(NM_033026.6):c.12058A>G (p.S4020G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025433" "0" "50" "7" "82545307" "82545307" "subst" "2.04087E-5" "02325" "PCLO_000109" "g.82545307C>G" "" "" "" "PCLO(NM_033026.6):c.11995G>C (p.V3999L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036544" "0" "50" "7" "82545069" "82545069" "subst" "2.89443E-5" "01804" "PCLO_000110" "g.82545069C>T" "" "" "" "PCLO(NM_033026.6):c.12233G>A (p.(Arg4078His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036545" "0" "30" "7" "82580293" "82580293" "subst" "0.0026121" "01804" "PCLO_000111" "g.82580293A>T" "" "" "" "PCLO(NM_033026.6):c.9611T>A (p.(Val3204Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036546" "0" "50" "7" "82585140" "82585140" "subst" "0" "01804" "PCLO_000112" "g.82585140T>C" "" "" "" "PCLO(NM_033026.6):c.5129A>G (p.(Asp1710Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036547" "0" "30" "7" "82763559" "82763560" "ins" "0" "01804" "PCLO_000113" "g.82763559_82763560insTATATATAAA" "" "" "" "PCLO(NM_033026.6):c.3300+7_3300+8insTTATATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036548" "0" "50" "7" "82784509" "82784538" "dup" "0" "01804" "PCLO_000114" "g.82784509_82784538dup" "" "" "" "PCLO(NM_033026.6):c.1456_1485dup (p.(Pro486_Gly495dup))" "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 PCLO ## Count = 118 "{{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}}" "0000246585" "00025343" "10" "12315" "0" "12315" "0" "c.12315T>C" "r.(?)" "p.(His4105=)" "" "0000246601" "00025343" "10" "14440" "0" "14440" "0" "c.14440T>G" "r.(?)" "p.(Ser4814Ala)" "" "0000246623" "00025343" "10" "14415" "10" "14415" "10" "c.14415+10T>C" "r.(=)" "p.(=)" "" "0000254308" "00025343" "30" "7435" "0" "7435" "0" "c.7435T>C" "r.(?)" "p.(Cys2479Arg)" "" "0000254973" "00025343" "30" "448" "0" "448" "0" "c.448T>A" "r.(?)" "p.(Ser150Thr)" "" "0000254982" "00025343" "30" "5565" "0" "5565" "0" "c.5565T>C" "r.(?)" "p.(Ser1855=)" "" "0000255170" "00025343" "30" "11934" "0" "11934" "0" "c.11934T>C" "r.(?)" "p.(Tyr3978=)" "" "0000293484" "00025343" "10" "14904" "0" "14904" "0" "c.14904G>A" "r.(?)" "p.(Gly4968=)" "" "0000293485" "00025343" "10" "2441" "0" "2441" "0" "c.2441G>C" "r.(?)" "p.(Ser814Thr)" "" "0000293486" "00025343" "10" "6174" "0" "6174" "0" "c.6174A>G" "r.(?)" "p.(Leu2058=)" "" "0000293487" "00025343" "10" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Asp287Gly)" "" "0000305150" "00025343" "50" "14999" "0" "14999" "0" "c.14999A>G" "r.(?)" "p.(Asp5000Gly)" "" "0000305151" "00025343" "30" "2860" "0" "2860" "0" "c.2860C>A" "r.(?)" "p.(Pro954Thr)" "" "0000305152" "00025343" "30" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104His)" "" "0000305153" "00025343" "30" "3432" "0" "3432" "0" "c.3432A>G" "r.(?)" "p.(Ser1144=)" "" "0000305154" "00025343" "30" "4815" "0" "4815" "0" "c.4815A>T" "r.(?)" "p.(Ala1605=)" "" "0000305155" "00025343" "50" "5507" "0" "5507" "0" "c.5507C>A" "r.(?)" "p.(Ala1836Glu)" "" "0000305156" "00025343" "30" "6254" "0" "6254" "0" "c.6254C>A" "r.(?)" "p.(Ala2085Asp)" "" "0000305157" "00025343" "50" "954" "0" "954" "0" "c.954G>T" "r.(?)" "p.(Gln318His)" "" "0000331664" "00025343" "50" "8779" "0" "8781" "0" "c.8779_8781dup" "r.(?)" "p.(Glu2927dup)" "" "0000331666" "00025343" "50" "6357" "0" "6357" "0" "c.6357del" "r.(?)" "p.(Thr2120ProfsTer13)" "" "0000438978" "00025343" "70" "1123" "0" "1124" "0" "c.1123_1124insCTCTTGGTCCTGCTAAGCCTCCAGCTC" "r.(?)" "p.(Gln374_Gln375insProLeuGlyProAlaLysProProAla)" "" "0000532787" "00025343" "50" "15265" "0" "15265" "0" "c.15265A>T" "r.(?)" "p.(Ser5089Cys)" "" "0000532788" "00025343" "50" "15178" "0" "15178" "0" "c.15178A>G" "r.(?)" "p.(Thr5060Ala)" "" "0000532789" "00025343" "10" "14904" "0" "14904" "0" "c.14904G>A" "r.(?)" "p.(Gly4968=)" "" "0000532790" "00025343" "30" "14871" "0" "14871" "0" "c.14871C>T" "r.(?)" "p.(Ser4957=)" "" "0000532791" "00025343" "30" "14871" "0" "14871" "0" "c.14871C>T" "r.(?)" "p.(Ser4957=)" "" "0000532792" "00025343" "50" "14702" "0" "14702" "0" "c.14702A>G" "r.(?)" "p.(Lys4901Arg)" "" "0000532793" "00025343" "10" "14440" "0" "14440" "0" "c.14440T>G" "r.(?)" "p.(Ser4814Ala)" "" "0000532794" "00025343" "10" "14415" "10" "14415" "10" "c.14415+10T>C" "r.(=)" "p.(=)" "" "0000532795" "00025343" "30" "14322" "0" "14322" "0" "c.14322T>C" "r.(?)" "p.(Tyr4774=)" "" "0000532796" "00025343" "50" "10979" "0" "10979" "0" "c.10979A>G" "r.(?)" "p.(Asp3660Gly)" "" "0000532797" "00025343" "10" "10146" "0" "10146" "0" "c.10146T>G" "r.(?)" "p.(Thr3382=)" "" "0000532798" "00025343" "50" "9565" "0" "9565" "0" "c.9565G>A" "r.(?)" "p.(Glu3189Lys)" "" "0000532799" "00025343" "30" "9401" "0" "9401" "0" "c.9401A>G" "r.(?)" "p.(His3134Arg)" "" "0000532800" "00025343" "10" "9098" "-7" "9098" "-7" "c.9098-7A>G" "r.(=)" "p.(=)" "" "0000532802" "00025343" "10" "8778" "0" "8780" "0" "c.8778_8780dup" "r.(?)" "p.(Asp2926dup)" "" "0000532803" "00025343" "10" "8778" "0" "8780" "0" "c.8778_8780dup" "r.(?)" "p.(Asp2926dup)" "" "0000532804" "00025343" "30" "8501" "0" "8501" "0" "c.8501C>T" "r.(?)" "p.(Pro2834Leu)" "" "0000532805" "00025343" "10" "7605" "0" "7605" "0" "c.7605C>T" "r.(?)" "p.(Gly2535=)" "" "0000532807" "00025343" "50" "5374" "0" "5374" "0" "c.5374C>G" "r.(?)" "p.(Gln1792Glu)" "" "0000532808" "00025343" "50" "4966" "0" "4966" "0" "c.4966C>A" "r.(?)" "p.(Leu1656Ile)" "" "0000532809" "00025343" "10" "4605" "0" "4605" "0" "c.4605A>T" "r.(?)" "p.(Ser1535=)" "" "0000532810" "00025343" "10" "4466" "0" "4466" "0" "c.4466C>G" "r.(?)" "p.(Ser1489Cys)" "" "0000532811" "00025343" "50" "4104" "0" "4104" "0" "c.4104T>A" "r.(?)" "p.(Asp1368Glu)" "" "0000532812" "00025343" "30" "3974" "0" "3974" "0" "c.3974G>T" "r.(?)" "p.(Cys1325Phe)" "" "0000532813" "00025343" "50" "3064" "0" "3065" "0" "c.3064_3065del" "r.(?)" "p.(Glu1022AsnfsTer9)" "" "0000532814" "00025343" "50" "2845" "0" "2845" "0" "c.2845G>T" "r.(?)" "p.(Ala949Ser)" "" "0000532815" "00025343" "10" "2441" "0" "2441" "0" "c.2441G>C" "r.(?)" "p.(Ser814Thr)" "" "0000532816" "00025343" "30" "2066" "0" "2066" "0" "c.2066C>T" "r.(?)" "p.(Ala689Val)" "" "0000532817" "00025343" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Val617=)" "" "0000532818" "00025343" "30" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Ala433Thr)" "" "0000532822" "00025343" "30" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Pro362Leu)" "" "0000532823" "00025343" "10" "460" "0" "460" "0" "c.460C>A" "r.(?)" "p.(Pro154Thr)" "" "0000532824" "00025343" "10" "249" "-12" "249" "-12" "c.249-12del" "r.(=)" "p.(=)" "" "0000611233" "00025343" "30" "7313" "0" "7313" "0" "c.7313T>C" "r.(?)" "p.(Leu2438Pro)" "" "0000621929" "00025343" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Ter)" "" "0000626556" "00025343" "50" "10918" "0" "10918" "0" "c.10918T>C" "r.(?)" "p.(Phe3640Leu)" "" "0000655892" "00025343" "30" "9519" "0" "9519" "0" "c.9519T>C" "r.(?)" "p.(Leu3173=)" "" "0000655893" "00025343" "30" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Pro229Leu)" "" "0000678181" "00025343" "50" "14017" "0" "14017" "0" "c.14017G>A" "r.(?)" "p.(Val4673Met)" "" "0000678182" "00025343" "50" "13571" "0" "13571" "0" "c.13571C>T" "r.(?)" "p.(Pro4524Leu)" "" "0000678183" "00025343" "30" "12056" "0" "12056" "0" "c.12056G>C" "r.(?)" "p.(Ser4019Thr)" "" "0000678184" "00025343" "50" "11615" "0" "11615" "0" "c.11615C>A" "r.(?)" "p.(Thr3872Asn)" "" "0000678185" "00025343" "30" "10149" "0" "10149" "0" "c.10149G>A" "r.(?)" "p.(Gln3383=)" "" "0000678186" "00025343" "50" "9196" "0" "9196" "0" "c.9196G>A" "r.(?)" "p.(Ala3066Thr)" "" "0000678187" "00025343" "50" "7570" "0" "7570" "0" "c.7570C>T" "r.(?)" "p.(Gln2524Ter)" "" "0000678188" "00025343" "50" "6126" "0" "6126" "0" "c.6126A>G" "r.(?)" "p.(Ile2042Met)" "" "0000678189" "00025343" "30" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Ile)" "" "0000678190" "00025343" "30" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Pro510Ser)" "" "0000690081" "00025343" "30" "15237" "0" "15237" "0" "c.15237G>A" "r.(?)" "p.(Ser5079=)" "" "0000690082" "00025343" "50" "10400" "0" "10400" "0" "c.10400G>A" "r.(?)" "p.(Ser3467Asn)" "" "0000690083" "00025343" "50" "4399" "0" "4401" "0" "c.4399_4401del" "r.(?)" "p.(Glu1467del)" "" "0000721564" "00025343" "50" "14063" "0" "14063" "0" "c.14063del" "r.(?)" "p.(Lys4688Argfs*23)" "" "0000721565" "00025343" "30" "12357" "0" "12357" "0" "c.12357C>T" "r.(?)" "p.(Tyr4119=)" "" "0000721566" "00025343" "30" "3429" "0" "3429" "0" "c.3429A>G" "r.(?)" "p.(Ser1143=)" "" "0000803259" "00025343" "50" "15265" "0" "15265" "0" "c.15265A>T" "r.(?)" "p.(Ser5089Cys)" "" "0000803260" "00025343" "30" "9591" "0" "9591" "0" "c.9591T>A" "r.(?)" "p.(Asp3197Glu)" "" "0000803261" "00025343" "50" "7113" "0" "7113" "0" "c.7113del" "r.(?)" "p.(Lys2371Asnfs*73)" "" "0000803262" "00025343" "30" "6417" "0" "6417" "0" "c.6417A>G" "r.(?)" "p.(Glu2139=)" "" "0000803263" "00025343" "30" "4966" "0" "4966" "0" "c.4966C>A" "r.(?)" "p.(Leu1656Ile)" "" "0000851674" "00025343" "30" "8359" "0" "8359" "0" "c.8359C>T" "r.(?)" "p.(Pro2787Ser)" "" "0000851675" "00025343" "30" "5955" "0" "5955" "0" "c.5955G>A" "r.(?)" "p.(Gln1985=)" "" "0000860918" "00025343" "30" "13638" "0" "13638" "0" "c.13638G>A" "r.(?)" "p.(Thr4546=)" "" "0000860919" "00025343" "30" "13245" "0" "13245" "0" "c.13245C>T" "r.(?)" "p.(Asp4415=)" "" "0000860920" "00025343" "50" "11093" "0" "11093" "0" "c.11093A>C" "r.(?)" "p.(Gln3698Pro)" "" "0000860921" "00025343" "30" "3743" "0" "3743" "0" "c.3743T>C" "r.(?)" "p.(Leu1248Pro)" "" "0000860922" "00025343" "30" "3183" "0" "3183" "0" "c.3183C>T" "r.(?)" "p.(Leu1061=)" "" "0000860923" "00025343" "30" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Pro988Ser)" "" "0000860924" "00025343" "30" "2884" "0" "2884" "0" "c.2884G>A" "r.(?)" "p.(Ala962Thr)" "" "0000860925" "00025343" "30" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Ala825Thr)" "" "0000860926" "00025343" "50" "1159" "0" "1159" "0" "c.1159G>T" "r.(?)" "p.(Gly387Trp)" "" "0000887987" "00025343" "50" "11537" "0" "11537" "0" "c.11537G>A" "r.(?)" "p.(Arg3846Gln)" "" "0000887988" "00025343" "50" "7699" "0" "7699" "0" "c.7699A>C" "r.(?)" "p.(Lys2567Gln)" "" "0000920727" "00025343" "70" "2191" "0" "2191" "0" "c.2191A>T" "r.(?)" "p.(Lys731*)" "" "0000960279" "00025343" "50" "12814" "0" "12814" "0" "c.12814C>T" "r.(?)" "p.(Arg4272Cys)" "" "0000960287" "00025343" "50" "1656" "0" "1656" "0" "c.1656G>T" "r.(?)" "p.(Gln552His)" "" "0000977865" "00025343" "50" "6532" "0" "6532" "0" "c.6532C>G" "r.(?)" "p.(Pro2178Ala)" "" "0000977866" "00025343" "50" "4816" "0" "4816" "0" "c.4816G>A" "r.(?)" "p.(Gly1606Arg)" "" "0000996673" "00025343" "30" "8993" "0" "8993" "0" "c.8993A>G" "r.(?)" "p.(Asn2998Ser)" "" "0000996674" "00025343" "30" "8746" "0" "8746" "0" "c.8746A>C" "r.(?)" "p.(Thr2916Pro)" "" "0000996675" "00025343" "30" "8744" "0" "8744" "0" "c.8744C>G" "r.(?)" "p.(Ser2915Cys)" "" "0000996676" "00025343" "50" "8191" "0" "8191" "0" "c.8191C>T" "r.(?)" "p.(Arg2731Cys)" "" "0000996677" "00025343" "30" "7723" "0" "7723" "0" "c.7723T>C" "r.(?)" "p.(Ser2575Pro)" "" "0000996678" "00025343" "30" "7313" "0" "7313" "0" "c.7313T>C" "r.(?)" "p.(Leu2438Pro)" "" "0000996679" "00025343" "50" "7217" "0" "7217" "0" "c.7217C>T" "r.(?)" "p.(Pro2406Leu)" "" "0000996680" "00025343" "30" "4444" "0" "4444" "0" "c.4444G>T" "r.(?)" "p.(Asp1482Tyr)" "" "0000996681" "00025343" "50" "4083" "0" "4083" "0" "c.4083C>A" "r.(?)" "p.(Ser1361Arg)" "" "0000996682" "00025343" "30" "3451" "0" "3451" "0" "c.3451C>G" "r.(?)" "p.(Pro1151Ala)" "" "0000996683" "00025343" "30" "2845" "0" "2845" "0" "c.2845G>T" "r.(?)" "p.(Ala949Ser)" "" "0001025431" "00025343" "30" "13571" "0" "13571" "0" "c.13571C>T" "r.(?)" "p.(Pro4524Leu)" "" "0001025432" "00025343" "30" "12058" "0" "12058" "0" "c.12058A>G" "r.(?)" "p.(Ser4020Gly)" "" "0001025433" "00025343" "50" "11995" "0" "11995" "0" "c.11995G>C" "r.(?)" "p.(Val3999Leu)" "" "0001036544" "00025343" "50" "12233" "0" "12233" "0" "c.12233G>A" "r.(?)" "p.(Arg4078His)" "" "0001036545" "00025343" "30" "9611" "0" "9611" "0" "c.9611T>A" "r.(?)" "p.(Val3204Asp)" "" "0001036546" "00025343" "50" "5129" "0" "5129" "0" "c.5129A>G" "r.(?)" "p.(Asp1710Gly)" "" "0001036547" "00025343" "30" "3300" "7" "3300" "8" "c.3300+7_3300+8insTTATATATAT" "r.(=)" "p.(=)" "" "0001036548" "00025343" "50" "1456" "0" "1485" "0" "c.1456_1485dup" "r.(?)" "p.(Pro486_Gly495dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000208941" "0000438978" "0000272622" "0000626556" "0000434834" "0000920727" "0000449796" "0000960279" "0000449796" "0000960287"