### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLCZ1) # 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}}" "PLCZ1" "phospholipase C, zeta 1" "12" "p13.31" "unknown" "NG_052826.1" "UD_136018715945" "" "https://www.LOVD.nl/PLCZ1" "" "1" "19218" "89869" "608075" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PLCZ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-13 10:43:23" "00006" "2025-04-11 09:32:47" ## 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}}" "00016313" "PLCZ1" "transcript variant 1" "001" "NM_033123.3" "" "NP_149114.2" "" "" "" "-266" "1890" "1827" "18890993" "18836110" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "05472" "HYDM" "mole, hydatidiform, recurrent (HYDM)" "" "" "" "" "" "00006" "2018-09-29 23:17:06" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05651" "SPGF17" "spermatogenic failure, type 17 (SPGF-17)" "AR" "617214" "" "" "autosomal recessive" "00006" "2019-09-13 10:35:38" "00006" "2021-12-10 21:51:32" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PLCZ1" "05562" "PLCZ1" "05651" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00264149" "" "" "" "1" "" "03422" "" "" "M" "?" "" "" "0" "" "" "" "" "00264151" "" "" "" "1" "" "03422" "" "" "M" "?" "" "" "0" "" "" "" "" "00264152" "" "" "" "1" "" "03422" "" "" "M" "?" "" "" "0" "" "" "" "" "00264159" "" "" "" "1" "" "00006" "{PMID:Escoffier 2016:26721930}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents (first-cousin)/relatives" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam" "00414835" "" "" "" "1" "" "00006" "{PMID:Dai 2020:31463947}" "3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "Pat1" "00414836" "" "" "" "1" "" "00006" "{PMID:Dai 2020:31463947}" "3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "Pat2" "00414837" "" "" "" "2" "" "00006" "{PMID:Dai 2020:31463947}" "2 generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "Pat3" "00414838" "" "" "" "1" "" "00006" "{PMID:Heytens 2009:19584136}, {PMID:Kashir 2012:22095789}" "3 generation family, 1 affected, unaffected heterozygous carrier parents (patient has daughter)" "M" "" "" "" "0" "" "" "" "PatF" "00414842" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P30" "00414843" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P5" "00414844" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P26" "00414845" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P8" "00414846" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P12" "00414847" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P22" "00414848" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P24" "00414849" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P27" "00414850" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P28" "00414851" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P29" "00414852" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P32" "00414853" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P36" "00414854" "" "" "" "1" "" "00006" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Spain" "" "0" "" "" "" "P37" "00464700" "" "" "" "1" "" "00764" "" "" "M" "yes" "Egypt" "" "" "" "" "" "2103_Case8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00264149" "05472" "00264151" "05472" "00264152" "05472" "00264159" "05562" "00414835" "05562" "00414836" "05562" "00414837" "05562" "00414838" "00201" "00414842" "00201" "00414843" "00201" "00414844" "00201" "00414845" "00201" "00414846" "00201" "00414847" "00201" "00414848" "00201" "00414849" "00201" "00414850" "00201" "00414851" "00201" "00414852" "00201" "00414853" "00201" "00414854" "00201" "00464700" "05895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 05472, 05562, 05651, 05895 ## Count = 21 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000201993" "05472" "00264149" "03422" "Unknown" "" "INFM, HYDM with his partner" "" "" "" "" "" "" "" "" "" "0000201994" "05472" "00264152" "03422" "Unknown" "" "INFM, HYDM with his partner" "" "" "" "" "" "" "" "" "" "0000202001" "05562" "00264159" "00006" "Familial, autosomal recessive" "" "see paper; ..., infertile due to failure of oocyte activation, Western Blot no PLCZ1" "" "" "" "" "" "" "" "SPGF17" "male infertility" "0000306634" "05562" "00414835" "00006" "Familial, autosomal recessive" "44y" "see paper; ..., nonglobozoospermic" "" "" "" "" "" "" "" "SPGF17" "nonglobozoospermic" "0000306635" "05562" "00414836" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., nonglobozoospermic" "" "" "" "" "" "" "" "SPGF17" "nonglobozoospermic" "0000306636" "05562" "00414837" "00006" "Familial, autosomal recessive" "44y" "see paper; ..., nonglobozoospermic" "" "" "" "" "" "" "" "SPGF17" "nonglobozoospermic" "0000306637" "00201" "00414838" "00006" "Unknown" "" "see papr; ..., non-globozoospermic" "" "" "" "" "" "" "" "" "non-globozoospermic" "0000306641" "00201" "00414842" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306642" "00201" "00414843" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306643" "00201" "00414844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306644" "00201" "00414845" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306645" "00201" "00414846" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306646" "00201" "00414847" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306647" "00201" "00414848" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306648" "00201" "00414849" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306649" "00201" "00414850" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306650" "00201" "00414851" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306651" "00201" "00414852" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306652" "00201" "00414853" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000306653" "00201" "00414854" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intracytoplasmic sperm injection fertilisation failure" "0000350685" "05895" "00464700" "00764" "Familial, autosomal recessive" "" "Infertility (HP:0000789)" "" "" "" "" "" "" "" "Spermatogenic failure 17 (MIM: 617214)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000265270" "00264149" "1" "03422" "03422" "2019-09-12 15:16:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000265271" "00264151" "1" "03422" "03422" "2019-09-12 15:44:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000265272" "00264152" "1" "03422" "03422" "2019-09-12 16:05:27" "" "" "SEQ" "DNA" "" "" "0000265279" "00264159" "1" "00006" "00006" "2019-09-13 10:45:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416116" "00414835" "1" "00006" "00006" "2022-08-05 12:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416117" "00414836" "1" "00006" "00006" "2022-08-05 12:09:43" "" "" "SEQ-NG" "DNA" "" "WES" "0000416118" "00414837" "1" "00006" "00006" "2022-08-05 12:12:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000416119" "00414838" "1" "00006" "00006" "2022-08-05 12:23:37" "" "" "SEQ" "DNA" "" "" "0000416123" "00414842" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416124" "00414843" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416125" "00414844" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416126" "00414845" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416127" "00414846" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416128" "00414847" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416129" "00414848" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416130" "00414849" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416131" "00414850" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416132" "00414851" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416133" "00414852" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416134" "00414853" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000416135" "00414854" "1" "00006" "00006" "2022-08-05 13:38:47" "" "" "SEQ" "DNA" "" "" "0000466347" "00464700" "1" "00764" "00764" "2025-04-10 19:22:33" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000265270" "PLCZ1" "0000265271" "PLCZ1" "0000265272" "PLCZ1" "0000265279" "PLCZ1" "0000416119" "PLCZ1" "0000416123" "PLCZ1" "0000416124" "PLCZ1" "0000416125" "PLCZ1" "0000416126" "PLCZ1" "0000416127" "PLCZ1" "0000416128" "PLCZ1" "0000416129" "PLCZ1" "0000416130" "PLCZ1" "0000416131" "PLCZ1" "0000416132" "PLCZ1" "0000416133" "PLCZ1" "0000416134" "PLCZ1" "0000416135" "PLCZ1" "0000466347" "PLCZ1" ## 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 = 25 "{{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}}" "0000595881" "0" "90" "12" "18876476" "18876476" "subst" "2.87782E-5" "03422" "PLCZ1_000003" "g.18876476C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18723542C>T" "" "pathogenic (dominant)" "" "0000595882" "0" "50" "12" "18841115" "18841115" "subst" "0.0313805" "03422" "PLCZ1_000002" "g.18841115G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000595883" "0" "90" "12" "18876477" "18876477" "subst" "4.11289E-6" "03422" "PLCZ1_000004" "g.18876477C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18723543C>G" "" "pathogenic (dominant)" "" "0000595884" "0" "70" "12" "18865792" "18865792" "subst" "0.000589268" "03422" "PLCZ1_000005" "g.18865792T>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.18712858T>A" "" "pathogenic (dominant)" "" "0000595891" "3" "90" "12" "18841149" "18841149" "subst" "4.11343E-6" "00006" "PLCZ1_000001" "g.18841149T>A" "" "{PMID:Escoffier 2016:26721930}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18688215T>A" "" "pathogenic (recessive)" "" "0000874149" "3" "90" "12" "18865902" "18865902" "subst" "1.62518E-5" "00006" "PLCZ1_000006" "g.18865902G>T" "" "{PMID:Dai 2020:31463947}" "" "C588A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874151" "3" "90" "12" "18852854" "18852854" "subst" "0" "00006" "PLCZ1_000007" "g.18852854A>G" "" "{PMID:Dai 2020:31463947}" "" "T1048C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874152" "3" "90" "12" "18858228" "18858228" "subst" "0" "00006" "PLCZ1_000008" "g.18858228G>A" "" "{PMID:Dai 2020:31463947}" "" "C736T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874153" "11" "90" "12" "18849182" "18849182" "subst" "4.20953E-6" "00006" "PLCZ1_000009" "g.18849182T>G" "" "{PMID:Heytens 2009:19584136}, {PMID:Kashir 2011:22010140}, {PMID:Kashir 2012:22095789}, {PMID:Kashir 2012:22633260}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874154" "21" "90" "12" "18865792" "18865792" "subst" "0.000589268" "00006" "PLCZ1_000005" "g.18865792T>A" "" "{PMID:Kashir 2012:22095789}, {PMID:Kashir 2012:22633260}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874160" "1" "50" "12" "18876252" "18876252" "subst" "0.001871" "00006" "PLCZ1_000013" "g.18876252G>C" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs79487790" "0" "" "" "g.18723318G>C" "" "VUS" "" "0000874161" "1" "90" "12" "18865900" "18865900" "subst" "1.21876E-5" "00006" "PLCZ1_000012" "g.18865900C>T" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs781075636" "0" "" "" "g.18712966C>T" "" "VUS" "" "0000874162" "1" "50" "12" "18865819" "18865819" "subst" "0.000369729" "00006" "PLCZ1_000011" "g.18865819A>G" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs144902254" "0" "" "" "g.18712885A>G" "" "VUS" "" "0000874163" "1" "90" "12" "18865792" "18865792" "subst" "0.000589268" "00006" "PLCZ1_000005" "g.18865792T>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs200061726" "0" "" "" "g.18712858T>A" "" "VUS" "" "0000874164" "1" "90" "12" "18854479" "18854480" "del" "4.47202E-5" "00006" "PLCZ1_000010" "g.18854479_18854480del" "" "{PMID:Torra-Massana 2019:31347677}" "" "972_973delAG" "" "Germline" "" "rs777169092" "0" "" "" "g.18701545_18701546del" "" "VUS" "" "0000874165" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874166" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874167" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874168" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874169" "3" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874170" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874171" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874172" "1" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0000874173" "2" "50" "12" "18841115" "18841115" "subst" "0.0313805" "00006" "PLCZ1_000002" "g.18841115G>A" "" "{PMID:Torra-Massana 2019:31347677}" "" "" "" "Germline" "" "rs10505830" "0" "" "" "g.18688181G>A" "" "VUS" "" "0001030309" "3" "70" "12" "18852748" "18852748" "subst" "5.6917E-5" "00764" "PLCZ1_000014" "g.18852748C>T" "" "" "" "" "" "Germline" "yes" "rs758890842" "0" "" "" "g.18699814C>T" "" "VUS" "ACMG" ## 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 PLCZ1 ## Count = 25 "{{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}}" "0000595881" "00016313" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "" "0000595882" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "" "0000595883" "00016313" "90" "136" "-1" "136" "-1" "c.136-1G>C" "r.spl" "p.?" "" "0000595884" "00016313" "70" "698" "0" "698" "0" "c.698A>T" "r.(?)" "p.(His233Leu)" "" "0000595891" "00016313" "90" "1465" "0" "1465" "0" "c.1465A>T" "r.(?)" "p.(Ile489Phe)" "" "0000874149" "00016313" "90" "588" "0" "588" "0" "c.588C>A" "r.(?)" "p.(Cys196*)" "" "0000874151" "00016313" "90" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.(Ser350Pro)" "" "0000874152" "00016313" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Leu246Phe)" "" "0000874153" "00016313" "90" "1193" "0" "1193" "0" "c.1193A>C" "r.(?)" "p.(His398Pro)" "" "0000874154" "00016313" "90" "698" "0" "698" "0" "c.698A>T" "r.(?)" "p.(His233Leu)" "" "0000874160" "00016313" "50" "360" "0" "360" "0" "c.360C>G" "r.(?)" "p.(Ile120Met)" "4" "0000874161" "00016313" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197His)" "6" "0000874162" "00016313" "50" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Leu224Pro)" "6" "0000874163" "00016313" "90" "698" "0" "698" "0" "c.698A>T" "r.(?)" "p.(His233Leu)" "6" "0000874164" "00016313" "90" "972" "0" "973" "0" "c.972_973del" "r.(?)" "p.(Val326LysfsTer25)" "9" "0000874165" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874166" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874167" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874168" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874169" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874170" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874171" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874172" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0000874173" "00016313" "50" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Ser500Leu)" "13" "0001030309" "00016313" "70" "1154" "0" "1154" "0" "c.1154G>A" "r.(1154G>A)" "p.(Arg385Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000265270" "0000595881" "0000265270" "0000595882" "0000265271" "0000595883" "0000265272" "0000595884" "0000265279" "0000595891" "0000416116" "0000874149" "0000416117" "0000874151" "0000416118" "0000874152" "0000416119" "0000874153" "0000416119" "0000874154" "0000416123" "0000874160" "0000416124" "0000874161" "0000416124" "0000874173" "0000416125" "0000874162" "0000416126" "0000874163" "0000416127" "0000874164" "0000416128" "0000874165" "0000416129" "0000874166" "0000416130" "0000874167" "0000416131" "0000874168" "0000416132" "0000874169" "0000416133" "0000874170" "0000416134" "0000874171" "0000416135" "0000874172" "0000466347" "0001030309"