### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZFPM2) # 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}}" "ZFPM2" "zinc finger protein, FOG family member 2" "8" "q23" "unknown" "NG_011723.2" "UD_132118664868" "" "https://www.LOVD.nl/ZFPM2" "" "1" "16700" "23414" "603693" "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/ZFPM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-03 12:32:50" "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}}" "00023160" "ZFPM2" "zinc finger protein, multitype 2" "001" "NM_012082.3" "" "NP_036214.2" "" "" "" "-23" "4457" "3456" "106331147" "106816767" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00389" "TOF" "tetralogy of Fallot (TOF)" "AD" "187500" "" "" "" "00006" "2014-05-30 08:58:25" "00006" "2021-10-27 15:03:22" "02911" "DIH3" "hernia, diaphragmatic, type 3" "" "610187" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05073" "SRXY9" "sex reversal, 46XY, type 9 (SRXY-9)" "AD" "616067" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05480" "DIH" "hernia, diaphragmatic, congential" "" "" "" "" "" "00006" "2018-10-22 17:14:17" "00006" "2023-10-06 11:50:29" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ZFPM2" "00389" "ZFPM2" "02911" "ZFPM2" "05073" "ZFPM2" "05480" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00231278" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat249" "00231417" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat6" "00231422" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat22" "00231460" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat80" "00231468" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat99" "00231529" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat250" "00231537" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat268" "00231553" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat137" "00231555" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat182" "00231559" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat245" "00294546" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294547" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294548" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294549" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294550" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305175" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305176" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305177" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305178" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00419665" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "rF" "" "Greece" "" "0" "" "" "" "9045" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00231278" "05597" "00231417" "05597" "00231422" "05597" "00231460" "05597" "00231468" "05597" "00231529" "05597" "00231537" "05597" "00231553" "05597" "00231555" "05597" "00231559" "05597" "00294546" "00198" "00294547" "00198" "00294548" "00198" "00294549" "00198" "00294550" "00198" "00305175" "00198" "00305176" "00198" "00305177" "00198" "00305178" "00198" "00419665" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00389, 02911, 05073, 05480, 05597 ## Count = 11 "{{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}}" "0000173716" "05597" "00231278" "00006" "Isolated (sporadic)" "" "see paper; … 46,XY, hypospadias" "" "" "" "" "" "" "" "" "" "disorder of sex development" "" "0000173808" "05597" "00231417" "00006" "Unknown" "" "complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173813" "05597" "00231422" "00006" "Unknown" "" "complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173851" "05597" "00231460" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173859" "05597" "00231468" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173920" "05597" "00231529" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173928" "05597" "00231537" "00006" "Unknown" "" "ovotesticular" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173944" "05597" "00231553" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173946" "05597" "00231555" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173950" "05597" "00231559" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000310946" "00198" "00419665" "02300" "Familial, autosomal dominant" "05y" "" "" "" "" "" "" "" "" "" "SRXY9" "gender developmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232377" "00231278" "1" "00006" "00006" "2019-04-28 15:14:10" "00006" "2019-04-28 15:48:51" "SEQ" "DNA" "" "" "0000232516" "00231417" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232521" "00231422" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232559" "00231460" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232567" "00231468" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232628" "00231529" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232636" "00231537" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232652" "00231553" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232654" "00231555" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232658" "00231559" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000295714" "00294546" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295715" "00294547" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295716" "00294548" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295717" "00294549" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295718" "00294550" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306304" "00305175" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306305" "00305176" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306306" "00305177" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306307" "00305178" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420969" "00419665" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000232377" "MAP3K1" "0000232377" "ZFPM2" "0000232516" "ZFPM2" "0000232521" "ZFPM2" "0000232559" "ZFPM2" "0000232567" "ZFPM2" "0000232628" "ZFPM2" "0000232636" "ZFPM2" "0000232652" "NR5A1" "0000232652" "ZFPM2" "0000232654" "AR" "0000232654" "ZFPM2" "0000232658" "GATA4" "0000232658" "ZFPM2" ## 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 = 110 "{{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}}" "0000256334" "0" "50" "8" "106814417" "106814417" "subst" "0.000459918" "01943" "ZFPM2_000012" "g.106814417A>C" "" "" "" "ZFPM2(NM_012082.3):c.2107A>C (p.M703L), ZFPM2(NM_012082.4):c.2107A>C (p.M703L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105802189A>C" "" "VUS" "" "0000256361" "0" "50" "8" "106573696" "106573696" "subst" "1.22868E-5" "01943" "ZFPM2_000005" "g.106573696A>G" "" "" "" "ZFPM2(NM_012082.3):c.407A>G (p.N136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105561468A>G" "" "VUS" "" "0000256415" "0" "50" "8" "106815609" "106815609" "subst" "2.45024E-5" "01943" "ZFPM2_000011" "g.106815609A>G" "" "" "" "ZFPM2(NM_012082.3):c.3299A>G (p.Q1100R, p.(Gln1100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105803381A>G" "" "VUS" "" "0000313137" "0" "10" "8" "106814656" "106814656" "subst" "0.101638" "02325" "ZFPM2_000010" "g.106814656G>C" "" "" "" "ZFPM2(NM_012082.4):c.2346G>C (p.E782D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105802428G>C" "" "benign" "" "0000313138" "0" "10" "8" "106573578" "106573578" "subst" "0.618541" "02325" "ZFPM2_000004" "g.106573578C>T" "" "" "" "ZFPM2(NM_012082.4):c.302-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105561350C>T" "" "benign" "" "0000320161" "0" "50" "8" "106813942" "106813942" "subst" "0.00337747" "01943" "ZFPM2_000007" "g.106813942G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1236G>A (p.M412I), ZFPM2(NM_012082.3):c.1632G>A (p.M544I), ZFPM2(NM_012082.4):c.1632G>A (p.(Met544Ile), p.M544I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105801714G>A" "" "VUS" "" "0000320162" "0" "50" "8" "106813991" "106813991" "subst" "0" "01943" "ZFPM2_000008" "g.106813991G>T" "" "" "" "ZFPM2(NM_012082.3):c.1681G>T (p.D561Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105801763G>T" "" "VUS" "" "0000332270" "0" "50" "8" "106431368" "106431368" "subst" "0.000298768" "01804" "ZFPM2_000001" "g.106431368C>A" "" "" "" "ZFPM2(NM_012082.3):c.41-4C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105419140C>A" "" "VUS" "" "0000332271" "0" "30" "8" "106431452" "106431452" "subst" "0.000158636" "01804" "ZFPM2_000002" "g.106431452C>G" "" "" "" "ZFPM2(NM_012082.3):c.121C>G (p.(Pro41Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105419224C>G" "" "likely benign" "" "0000332272" "0" "30" "8" "106456600" "106456600" "subst" "0.00255746" "01804" "ZFPM2_000003" "g.106456600G>A" "" "" "" "ZFPM2(NM_012082.3):c.292G>A (p.D98N, p.(Asp98Asn)), ZFPM2(NM_012082.4):c.292G>A (p.D98N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105444372G>A" "" "likely benign" "" "0000332273" "0" "50" "8" "106646569" "106646569" "dup" "0" "01804" "ZFPM2_000006" "g.106646569dup" "" "" "" "ZFPM2(NM_012082.3):c.515_516insC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105634341dup" "" "VUS" "" "0000474786" "1" "70" "8" "106431420" "106431420" "subst" "0.00268139" "00006" "ZFPM2_000013" "g.106431420A>G" "" "{PMID:Eggers 2016:27899157}" "" "A89G" "" "Germline" "" "" "0" "" "" "g.105419192A>G" "" "likely pathogenic" "" "0000474787" "2" "50" "8" "106813922" "106813922" "subst" "0.000220922" "00006" "ZFPM2_000014" "g.106813922G>A" "" "{PMID:Eggers 2016:27899157}" "" "G1612A" "" "Germline" "" "" "0" "" "" "g.105801694G>A" "" "VUS" "" "0000475100" "1" "70" "8" "106813942" "106813942" "subst" "0.00337747" "00006" "ZFPM2_000007" "g.106813942G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105801714G>A" "" "likely pathogenic" "" "0000475101" "1" "70" "8" "106431420" "106431420" "subst" "0.00268139" "00006" "ZFPM2_000013" "g.106431420A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105419192A>G" "" "likely pathogenic" "" "0000475102" "1" "70" "8" "106456600" "106456600" "subst" "0.00255746" "00006" "ZFPM2_000003" "g.106456600G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105444372G>A" "" "likely pathogenic" "" "0000475103" "1" "70" "8" "106456600" "106456600" "subst" "0.00255746" "00006" "ZFPM2_000003" "g.106456600G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105444372G>A" "" "likely pathogenic" "" "0000475104" "1" "70" "8" "106814080" "106814080" "subst" "4.06455E-6" "00006" "ZFPM2_000019" "g.106814080G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105801852G>C" "" "likely pathogenic" "" "0000475105" "21" "70" "8" "106801042" "106801042" "subst" "0.00231608" "00006" "ZFPM2_000016" "g.106801042G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "father not analysed" "Germline" "" "" "0" "" "46,XY" "g.105788814G>C" "" "likely pathogenic" "" "0000475106" "2" "70" "8" "106813565" "106813565" "subst" "2.44113E-5" "00006" "ZFPM2_000018" "g.106813565G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105801337G>A" "" "likely pathogenic" "" "0000475107" "1" "50" "8" "106814417" "106814417" "subst" "0.000459918" "00006" "ZFPM2_000012" "g.106814417A>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105802189A>C" "" "VUS" "" "0000475108" "1" "70" "8" "106813313" "106813313" "subst" "0.000675088" "00006" "ZFPM2_000017" "g.106813313C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.105801085C>G" "" "likely pathogenic" "" "0000475109" "10" "90" "8" "106814128" "106814130" "del" "0" "00006" "ZFPM2_000015" "g.106814128_106814130del" "" "{PMID:Eggers 2016:27899157}" "" "NM_012082:c.1816_1818del" "father not analysed" "Germline" "" "" "0" "" "46,XY" "g.105801900_105801902del" "" "pathogenic" "" "0000533496" "0" "50" "8" "106431375" "106431375" "subst" "9.87411E-5" "02327" "ZFPM2_000020" "g.106431375C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419147C>T" "" "VUS" "" "0000533497" "0" "30" "8" "106431397" "106431397" "subst" "0" "01943" "ZFPM2_000021" "g.106431397T>A" "" "" "" "ZFPM2(NM_012082.3):c.66T>A (p.D22E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419169T>A" "" "likely benign" "" "0000533498" "0" "30" "8" "106431420" "106431420" "subst" "0.00268139" "01804" "ZFPM2_000013" "g.106431420A>G" "" "" "" "ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419192A>G" "" "likely benign" "" "0000533499" "0" "10" "8" "106431420" "106431420" "subst" "0.00268139" "02327" "ZFPM2_000013" "g.106431420A>G" "" "" "" "ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419192A>G" "" "benign" "" "0000533500" "0" "30" "8" "106431452" "106431452" "subst" "0.000158636" "02327" "ZFPM2_000002" "g.106431452C>G" "" "" "" "ZFPM2(NM_012082.3):c.121C>G (p.(Pro41Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419224C>G" "" "likely benign" "" "0000533501" "0" "50" "8" "106431456" "106431456" "subst" "0" "01943" "ZFPM2_000022" "g.106431456T>C" "" "" "" "ZFPM2(NM_012082.3):c.125T>C (p.L42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419228T>C" "" "VUS" "" "0000533502" "0" "30" "8" "106431461" "106431461" "subst" "0.000264346" "02325" "ZFPM2_000023" "g.106431461G>A" "" "" "" "ZFPM2(NM_012082.4):c.130G>A (p.E44K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105419233G>A" "" "likely benign" "" "0000533503" "0" "30" "8" "106456600" "106456600" "subst" "0.00255746" "02325" "ZFPM2_000003" "g.106456600G>A" "" "" "" "ZFPM2(NM_012082.3):c.292G>A (p.D98N, p.(Asp98Asn)), ZFPM2(NM_012082.4):c.292G>A (p.D98N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105444372G>A" "" "likely benign" "" "0000533508" "0" "30" "8" "106801092" "106801092" "subst" "0.000443021" "01804" "ZFPM2_000026" "g.106801092A>G" "" "" "" "ZFPM2(NM_012082.3):c.679A>G (p.(Ile227Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105788864A>G" "" "likely benign" "" "0000533509" "0" "50" "8" "106810999" "106810999" "subst" "2.43896E-5" "02327" "ZFPM2_000027" "g.106810999C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105798771C>T" "" "VUS" "" "0000533510" "0" "30" "8" "106811025" "106811025" "subst" "2.0314E-5" "02327" "ZFPM2_000028" "g.106811025C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105798797C>T" "" "likely benign" "" "0000533511" "0" "30" "8" "106813271" "106813272" "del" "0" "01804" "ZFPM2_000029" "g.106813271_106813272del" "" "" "" "ZFPM2(NM_012082.4):c.965-4_965-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801043_105801044del" "" "likely benign" "" "0000533512" "0" "50" "8" "106813403" "106813403" "subst" "0" "01943" "ZFPM2_000030" "g.106813403T>C" "" "" "" "ZFPM2(NM_012082.3):c.1093T>C (p.C365R, p.(Cys365Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801175T>C" "" "VUS" "" "0000533513" "0" "50" "8" "106813881" "106813881" "subst" "4.09584E-6" "02327" "ZFPM2_000031" "g.106813881T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801653T>G" "" "VUS" "" "0000533514" "0" "30" "8" "106813888" "106813888" "subst" "0.000856256" "01943" "ZFPM2_000032" "g.106813888G>T" "" "" "" "ZFPM2(NM_012082.3):c.1578G>T (p.R526=), ZFPM2(NM_012082.4):c.1578G>T (p.R526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801660G>T" "" "likely benign" "" "0000533515" "0" "30" "8" "106813922" "106813922" "subst" "0.000220922" "01804" "ZFPM2_000014" "g.106813922G>A" "" "" "" "ZFPM2(NM_012082.3):c.1612G>A (p.(Val538Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801694G>A" "" "likely benign" "" "0000533516" "0" "30" "8" "106813942" "106813942" "subst" "0.00337747" "01804" "ZFPM2_000007" "g.106813942G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1236G>A (p.M412I), ZFPM2(NM_012082.3):c.1632G>A (p.M544I), ZFPM2(NM_012082.4):c.1632G>A (p.(Met544Ile), p.M544I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801714G>A" "" "likely benign" "" "0000533517" "0" "30" "8" "106814279" "106814279" "subst" "0.0105777" "01804" "ZFPM2_000033" "g.106814279A>G" "" "" "" "ZFPM2(NM_012082.4):c.1969A>G (p.(Ser657Gly), p.S657G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802051A>G" "" "likely benign" "" "0000533519" "0" "50" "8" "106814597" "106814597" "subst" "0.00268" "01943" "ZFPM2_000035" "g.106814597G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802369G>A" "" "VUS" "" "0000533520" "0" "30" "8" "106814597" "106814597" "subst" "0.00268" "01804" "ZFPM2_000035" "g.106814597G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802369G>A" "" "likely benign" "" "0000533521" "0" "30" "8" "106814597" "106814597" "subst" "0.00268" "02327" "ZFPM2_000035" "g.106814597G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802369G>A" "" "likely benign" "" "0000533522" "0" "50" "8" "106814943" "106814943" "subst" "1.23269E-5" "01943" "ZFPM2_000036" "g.106814943C>T" "" "" "" "ZFPM2(NM_012082.3):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802715C>T" "" "VUS" "" "0000533523" "0" "30" "8" "106815279" "106815279" "subst" "0.000313988" "02327" "ZFPM2_000037" "g.106815279G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105803051G>A" "" "likely benign" "" "0000533524" "0" "30" "8" "106815286" "106815286" "subst" "0.031236" "02327" "ZFPM2_000038" "g.106815286T>C" "" "" "" "ZFPM2(NM_012082.4):c.2976T>C (p.(Tyr992=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105803058T>C" "" "likely benign" "" "0000533525" "0" "30" "8" "106815365" "106815365" "subst" "1.62591E-5" "01943" "ZFPM2_000039" "g.106815365G>T" "" "" "" "ZFPM2(NM_012082.3):c.3055G>T (p.A1019S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105803137G>T" "" "likely benign" "" "0000533526" "0" "30" "8" "106815474" "106815474" "subst" "0.0148253" "01804" "ZFPM2_000040" "g.106815474C>T" "" "" "" "ZFPM2(NM_012082.4):c.3164C>T (p.(Ala1055Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105803246C>T" "" "likely benign" "" "0000611394" "0" "50" "8" "106456600" "106456600" "subst" "0.00255746" "01943" "ZFPM2_000003" "g.106456600G>A" "" "" "" "ZFPM2(NM_012082.3):c.292G>A (p.D98N, p.(Asp98Asn)), ZFPM2(NM_012082.4):c.292G>A (p.D98N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105444372G>A" "" "VUS" "" "0000611395" "0" "50" "8" "106573638" "106573638" "subst" "0" "02327" "ZFPM2_000042" "g.106573638C>T" "" "" "" "ZFPM2(NM_012082.4):c.349C>T (p.R117*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105561410C>T" "" "VUS" "" "0000611396" "0" "50" "8" "106813586" "106813586" "subst" "0.00112698" "02327" "ZFPM2_000043" "g.106813586G>A" "" "" "" "ZFPM2(NM_012082.4):c.1276G>A (p.A426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801358G>A" "" "VUS" "" "0000611397" "0" "30" "8" "106814181" "106814181" "subst" "6.52768E-5" "02327" "ZFPM2_000044" "g.106814181C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105801953C>G" "" "likely benign" "" "0000611398" "0" "30" "8" "106814983" "106814983" "subst" "3.26896E-5" "02327" "ZFPM2_000045" "g.106814983C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802755C>G" "" "likely benign" "" "0000611399" "0" "50" "8" "106815224" "106815224" "subst" "4.11238E-6" "02327" "ZFPM2_000046" "g.106815224A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105802996A>G" "" "VUS" "" "0000611400" "0" "50" "8" "106815309" "106815309" "subst" "0" "02327" "ZFPM2_000047" "g.106815309A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105803081A>G" "" "VUS" "" "0000621977" "0" "30" "8" "106801042" "106801042" "subst" "0.00231608" "02325" "ZFPM2_000016" "g.106801042G>C" "" "" "" "ZFPM2(NM_001362837.1):c.233G>C (p.S78T), ZFPM2(NM_012082.4):c.629G>C (p.S210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105788814G>C" "" "likely benign" "" "0000652403" "1" "10" "8" "106456600" "106456600" "subst" "0.00255746" "03575" "ZFPM2_000003" "g.106456600G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs202217256}" "Germline" "" "rs202217256" "0" "" "" "g.105444372G>A" "" "benign" "" "0000652404" "1" "10" "8" "106813672" "106813672" "subst" "0.0459946" "03575" "ZFPM2_000048" "g.106813672A>G" "120/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs920628}" "Germline" "" "rs920628" "0" "" "" "g.105801444A>G" "" "benign" "" "0000652405" "1" "10" "8" "106814086" "106814086" "subst" "0.0312912" "03575" "ZFPM2_000049" "g.106814086T>C" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs16873732}" "Germline" "" "rs16873732" "0" "" "" "g.105801858T>C" "" "benign" "" "0000652406" "1" "10" "8" "106815286" "106815286" "subst" "0.031236" "03575" "ZFPM2_000038" "g.106815286T>C" "120/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs1442320}" "Germline" "" "rs1442320" "0" "" "" "g.105803058T>C" "" "benign" "" "0000652407" "1" "10" "8" "106815517" "106815517" "subst" "0.0469825" "03575" "ZFPM2_000050" "g.106815517C>T" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs11995760}" "Germline" "" "rs11995760" "0" "" "" "g.105803289C>T" "" "benign" "" "0000655975" "0" "50" "8" "106801154" "106801154" "dup" "0" "02326" "ZFPM2_000051" "g.106801154dup" "" "" "" "ZFPM2(NM_012082.4):c.739+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105788926dup" "" "VUS" "" "0000669992" "3" "10" "8" "106813672" "106813672" "subst" "0.0459946" "03575" "ZFPM2_000048" "g.106813672A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs920628}" "Germline" "" "rs920628" "0" "" "" "g.105801444A>G" "" "benign" "" "0000669993" "3" "10" "8" "106814086" "106814086" "subst" "0.0312912" "03575" "ZFPM2_000049" "g.106814086T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs16873732}" "Germline" "" "rs16873732" "0" "" "" "g.105801858T>C" "" "benign" "" "0000669994" "3" "10" "8" "106815286" "106815286" "subst" "0.031236" "03575" "ZFPM2_000038" "g.106815286T>C" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs1442320}" "Germline" "" "rs1442320" "0" "" "" "g.105803058T>C" "" "benign" "" "0000669995" "3" "10" "8" "106815517" "106815517" "subst" "0.0469825" "03575" "ZFPM2_000050" "g.106815517C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs11995760}" "Germline" "" "rs11995760" "0" "" "" "g.105803289C>T" "" "benign" "" "0000678265" "0" "30" "8" "106431549" "106431549" "subst" "4.09125E-6" "02326" "ZFPM2_000052" "g.106431549A>G" "" "" "" "ZFPM2(NM_012082.4):c.199+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678266" "0" "70" "8" "106573638" "106573638" "subst" "0" "02326" "ZFPM2_000042" "g.106573638C>T" "" "" "" "ZFPM2(NM_012082.4):c.349C>T (p.R117*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678267" "0" "50" "8" "106813971" "106813971" "subst" "0" "01943" "ZFPM2_000053" "g.106813971A>T" "" "" "" "ZFPM2(NM_001362837.1):c.1265A>T (p.N422I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678268" "0" "10" "8" "106814597" "106814597" "subst" "0.00268" "02326" "ZFPM2_000035" "g.106814597G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690134" "0" "30" "8" "106431420" "106431420" "subst" "0.00268139" "02326" "ZFPM2_000013" "g.106431420A>G" "" "" "" "ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690135" "0" "50" "8" "106814417" "106814417" "subst" "0.000459918" "02325" "ZFPM2_000012" "g.106814417A>C" "" "" "" "ZFPM2(NM_012082.3):c.2107A>C (p.M703L), ZFPM2(NM_012082.4):c.2107A>C (p.M703L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721762" "0" "30" "8" "106801042" "106801042" "subst" "0.00231608" "01943" "ZFPM2_000016" "g.106801042G>C" "" "" "" "ZFPM2(NM_001362837.1):c.233G>C (p.S78T), ZFPM2(NM_012082.4):c.629G>C (p.S210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721763" "0" "30" "8" "106813942" "106813942" "subst" "0.00337747" "02325" "ZFPM2_000007" "g.106813942G>A" "" "" "" "ZFPM2(NM_001362837.1):c.1236G>A (p.M412I), ZFPM2(NM_012082.3):c.1632G>A (p.M544I), ZFPM2(NM_012082.4):c.1632G>A (p.(Met544Ile), p.M544I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721764" "0" "50" "8" "106814811" "106814811" "subst" "0.000488922" "01943" "ZFPM2_000054" "g.106814811A>G" "" "" "" "ZFPM2(NM_001362837.1):c.2105A>G (p.K702R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803398" "0" "30" "8" "106813465" "106813465" "subst" "4.06352E-5" "01943" "ZFPM2_000055" "g.106813465T>C" "" "" "" "ZFPM2(NM_001362837.1):c.759T>C (p.H253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803399" "0" "10" "8" "106814279" "106814279" "subst" "0.0105777" "02326" "ZFPM2_000033" "g.106814279A>G" "" "" "" "ZFPM2(NM_012082.4):c.1969A>G (p.(Ser657Gly), p.S657G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803400" "0" "50" "8" "106815093" "106815093" "subst" "2.45172E-5" "01943" "ZFPM2_000056" "g.106815093A>G" "" "" "" "ZFPM2(NM_001362837.1):c.2387A>G (p.N796S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861012" "0" "50" "8" "106811171" "106811171" "subst" "1.62978E-5" "01943" "ZFPM2_000057" "g.106811171A>G" "" "" "" "ZFPM2(NM_001362837.1):c.563A>G (p.H188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861013" "0" "50" "8" "106815069" "106815069" "subst" "1.63654E-5" "01943" "ZFPM2_000058" "g.106815069G>A" "" "" "" "ZFPM2(NM_001362837.1):c.2363G>A (p.G788E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881328" "21" "70" "8" "106431523" "106431523" "subst" "0" "02300" "ZFPM2_000059" "g.106431523T>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP3, PP4" "Germline" "" "" "0" "" "46,XY" "g.105419295T>G" "" "likely pathogenic (dominant)" "ACMG" "0000888116" "0" "50" "8" "106331210" "106331210" "subst" "0" "02327" "ZFPM2_000060" "g.106331210G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888117" "0" "30" "8" "106813888" "106813888" "subst" "0.000856256" "02326" "ZFPM2_000032" "g.106813888G>T" "" "" "" "ZFPM2(NM_012082.3):c.1578G>T (p.R526=), ZFPM2(NM_012082.4):c.1578G>T (p.R526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888118" "0" "50" "8" "106815245" "106815245" "subst" "6.16391E-5" "02325" "ZFPM2_000061" "g.106815245G>A" "" "" "" "ZFPM2(NM_012082.3):c.2935G>A (p.(Asp979Asn)), ZFPM2(NM_012082.4):c.2935G>A (p.D979N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888119" "0" "50" "8" "106815531" "106815531" "subst" "0" "02325" "ZFPM2_000062" "g.106815531A>G" "" "" "" "ZFPM2(NM_012082.4):c.3221A>G (p.K1074R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912867" "0" "70" "8" "106800945" "106800945" "subst" "0" "02327" "ZFPM2_000063" "g.106800945G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912868" "0" "50" "8" "106814145" "106814145" "subst" "0" "02327" "ZFPM2_000064" "g.106814145A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929408" "0" "30" "8" "106814740" "106814740" "subst" "0.000128225" "02326" "ZFPM2_000065" "g.106814740A>T" "" "" "" "ZFPM2(NM_012082.4):c.2430A>T (p.P810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949001" "0" "30" "8" "106813586" "106813586" "subst" "0.00112698" "02326" "ZFPM2_000043" "g.106813586G>A" "" "" "" "ZFPM2(NM_012082.4):c.1276G>A (p.A426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964780" "0" "50" "8" "106815496" "106815496" "subst" "0" "02326" "ZFPM2_000066" "g.106815496C>A" "" "" "" "ZFPM2(NM_012082.4):c.3186C>A (p.N1062K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977985" "0" "50" "8" "106813905" "106813905" "subst" "0" "01804" "ZFPM2_000067" "g.106813905G>A" "" "" "" "ZFPM2(NM_012082.4):c.1595G>A (p.(Ser532Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977986" "0" "30" "8" "106815396" "106815396" "subst" "0.000219589" "01804" "ZFPM2_000068" "g.106815396A>T" "" "" "" "ZFPM2(NM_012082.4):c.3086A>T (p.(Lys1029Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996859" "0" "30" "8" "106456594" "106456594" "subst" "1.65258E-5" "01804" "ZFPM2_000069" "g.106456594G>T" "" "" "" "ZFPM2(NM_012082.3):c.286G>T (p.(Asp96Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996860" "0" "50" "8" "106813357" "106813357" "subst" "0" "01804" "ZFPM2_000070" "g.106813357C>A" "" "" "" "ZFPM2(NM_012082.3):c.1047C>A (p.(Asn349Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996861" "0" "50" "8" "106813403" "106813403" "subst" "0" "01804" "ZFPM2_000030" "g.106813403T>C" "" "" "" "ZFPM2(NM_012082.3):c.1093T>C (p.C365R, p.(Cys365Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996862" "0" "30" "8" "106813760" "106813760" "subst" "0" "01804" "ZFPM2_000071" "g.106813760G>A" "" "" "" "ZFPM2(NM_012082.3):c.1450G>A (p.(Val484Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996863" "0" "30" "8" "106813922" "106813922" "subst" "0" "01804" "ZFPM2_000072" "g.106813922G>C" "" "" "" "ZFPM2(NM_012082.3):c.1612G>C (p.(Val538Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996864" "0" "30" "8" "106814222" "106814222" "subst" "0" "01804" "ZFPM2_000073" "g.106814222A>G" "" "" "" "ZFPM2(NM_012082.3):c.1912A>G (p.(Asn638Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996865" "0" "30" "8" "106814523" "106814523" "subst" "0" "01804" "ZFPM2_000074" "g.106814523G>A" "" "" "" "ZFPM2(NM_012082.3):c.2213G>A (p.(Arg738His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996866" "0" "50" "8" "106815245" "106815245" "subst" "6.16391E-5" "01804" "ZFPM2_000061" "g.106815245G>A" "" "" "" "ZFPM2(NM_012082.3):c.2935G>A (p.(Asp979Asn)), ZFPM2(NM_012082.4):c.2935G>A (p.D979N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996867" "0" "50" "8" "106815609" "106815609" "subst" "2.45024E-5" "01804" "ZFPM2_000011" "g.106815609A>G" "" "" "" "ZFPM2(NM_012082.3):c.3299A>G (p.Q1100R, p.(Gln1100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014400" "0" "50" "8" "106810990" "106810990" "subst" "4.06583E-6" "02325" "ZFPM2_000075" "g.106810990C>T" "" "" "" "ZFPM2(NM_012082.4):c.778C>T (p.R260W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025472" "0" "30" "8" "106431420" "106431420" "subst" "0.00268139" "02325" "ZFPM2_000013" "g.106431420A>G" "" "" "" "ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025473" "0" "50" "8" "106813976" "106813976" "subst" "0" "02325" "ZFPM2_000076" "g.106813976A>T" "" "" "" "ZFPM2(NM_012082.4):c.1666A>T (p.T556S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025474" "0" "50" "8" "106814835" "106814835" "subst" "0" "02325" "ZFPM2_000077" "g.106814835G>A" "" "" "" "ZFPM2(NM_012082.4):c.2525G>A (p.R842Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036684" "0" "30" "8" "106814080" "106814080" "subst" "4.06455E-6" "01804" "ZFPM2_000078" "g.106814080G>A" "" "" "" "ZFPM2(NM_012082.4):c.1770G>A (p.(Lys590=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036685" "0" "30" "8" "106814086" "106814086" "subst" "0.0312912" "01804" "ZFPM2_000049" "g.106814086T>C" "" "" "" "ZFPM2(NM_012082.4):c.1776T>C (p.(Pro592=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036686" "0" "30" "8" "106814695" "106814695" "subst" "0.030974" "01804" "ZFPM2_000079" "g.106814695C>G" "" "" "" "ZFPM2(NM_012082.4):c.2385C>G (p.(Val795=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036687" "0" "30" "8" "106815286" "106815286" "subst" "0.031236" "01804" "ZFPM2_000038" "g.106815286T>C" "" "" "" "ZFPM2(NM_012082.4):c.2976T>C (p.(Tyr992=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ZFPM2 ## Count = 110 "{{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}}" "0000256334" "00023160" "50" "2107" "0" "2107" "0" "c.2107A>C" "r.(?)" "p.(Met703Leu)" "" "0000256361" "00023160" "50" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Asn136Ser)" "" "0000256415" "00023160" "50" "3299" "0" "3299" "0" "c.3299A>G" "r.(?)" "p.(Gln1100Arg)" "" "0000313137" "00023160" "10" "2346" "0" "2346" "0" "c.2346G>C" "r.(?)" "p.(Glu782Asp)" "" "0000313138" "00023160" "10" "302" "-13" "302" "-13" "c.302-13C>T" "r.(=)" "p.(=)" "" "0000320161" "00023160" "50" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Met544Ile)" "" "0000320162" "00023160" "50" "1681" "0" "1681" "0" "c.1681G>T" "r.(?)" "p.(Asp561Tyr)" "" "0000332270" "00023160" "50" "41" "-4" "41" "-4" "c.41-4C>A" "r.spl?" "p.?" "" "0000332271" "00023160" "30" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Pro41Ala)" "" "0000332272" "00023160" "30" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000332273" "00023160" "50" "516" "0" "516" "0" "c.516dup" "r.(?)" "p.(Ile173HisfsTer19)" "" "0000474786" "00023160" "70" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Glu30Gly)" "" "0000474787" "00023160" "50" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Val538Ile)" "" "0000475100" "00023160" "70" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Met544Ile)" "" "0000475101" "00023160" "70" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Glu30Gly)" "" "0000475102" "00023160" "70" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000475103" "00023160" "70" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000475104" "00023160" "70" "1770" "0" "1770" "0" "c.1770G>C" "r.(?)" "p.(Lys590Asn)" "" "0000475105" "00023160" "70" "629" "0" "629" "0" "c.629G>C" "r.(?)" "p.(Ser210Thr)" "" "0000475106" "00023160" "70" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Glu419Lys)" "" "0000475107" "00023160" "50" "2107" "0" "2107" "0" "c.2107A>C" "r.(?)" "p.(Met703Leu)" "" "0000475108" "00023160" "70" "1003" "0" "1003" "0" "c.1003C>G" "r.(?)" "p.(Leu335Val)" "" "0000475109" "00023160" "90" "1818" "0" "1820" "0" "c.1818_1820del" "r.(?)" "p.(Leu607del)" "" "0000533496" "00023160" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Pro15Leu)" "" "0000533497" "00023160" "30" "66" "0" "66" "0" "c.66T>A" "r.(?)" "p.(Asp22Glu)" "" "0000533498" "00023160" "30" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Glu30Gly)" "" "0000533499" "00023160" "10" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Glu30Gly)" "" "0000533500" "00023160" "30" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Pro41Ala)" "" "0000533501" "00023160" "50" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Leu42Ser)" "" "0000533502" "00023160" "30" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Glu44Lys)" "" "0000533503" "00023160" "30" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000533508" "00023160" "30" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Ile227Val)" "" "0000533509" "00023160" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Trp)" "" "0000533510" "00023160" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Tyr271=)" "" "0000533511" "00023160" "30" "965" "-4" "965" "-3" "c.965-4_965-3del" "r.spl?" "p.?" "" "0000533512" "00023160" "50" "1093" "0" "1093" "0" "c.1093T>C" "r.(?)" "p.(Cys365Arg)" "" "0000533513" "00023160" "50" "1571" "0" "1571" "0" "c.1571T>G" "r.(?)" "p.(Val524Gly)" "" "0000533514" "00023160" "30" "1578" "0" "1578" "0" "c.1578G>T" "r.(?)" "p.(Arg526=)" "" "0000533515" "00023160" "30" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Val538Ile)" "" "0000533516" "00023160" "30" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Met544Ile)" "" "0000533517" "00023160" "30" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Ser657Gly)" "" "0000533519" "00023160" "50" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Val763Ile)" "" "0000533520" "00023160" "30" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Val763Ile)" "" "0000533521" "00023160" "30" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Val763Ile)" "" "0000533522" "00023160" "50" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000533523" "00023160" "30" "2969" "0" "2969" "0" "c.2969G>A" "r.(?)" "p.(Ser990Asn)" "" "0000533524" "00023160" "30" "2976" "0" "2976" "0" "c.2976T>C" "r.(?)" "p.(Tyr992=)" "" "0000533525" "00023160" "30" "3055" "0" "3055" "0" "c.3055G>T" "r.(?)" "p.(Ala1019Ser)" "" "0000533526" "00023160" "30" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Ala1055Val)" "" "0000611394" "00023160" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000611395" "00023160" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Ter)" "" "0000611396" "00023160" "50" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000611397" "00023160" "30" "1871" "0" "1871" "0" "c.1871C>G" "r.(?)" "p.(Ser624Cys)" "" "0000611398" "00023160" "30" "2673" "0" "2673" "0" "c.2673C>G" "r.(?)" "p.(Asp891Glu)" "" "0000611399" "00023160" "50" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ile972Val)" "" "0000611400" "00023160" "50" "2999" "0" "2999" "0" "c.2999A>G" "r.(?)" "p.(His1000Arg)" "" "0000621977" "00023160" "30" "629" "0" "629" "0" "c.629G>C" "r.(?)" "p.(Ser210Thr)" "" "0000652403" "00023160" "10" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000652404" "00023160" "10" "1362" "0" "1362" "0" "c.1362A>G" "r.(=)" "p.(=)" "" "0000652405" "00023160" "10" "1776" "0" "1776" "0" "c.1776T>C" "r.(=)" "p.(=)" "" "0000652406" "00023160" "10" "2976" "0" "2976" "0" "c.2976T>C" "r.(=)" "p.(=)" "" "0000652407" "00023160" "10" "3207" "0" "3207" "0" "c.3207C>T" "r.(=)" "p.(=)" "" "0000655975" "00023160" "50" "739" "2" "739" "2" "c.739+2dup" "r.spl?" "p.?" "" "0000669992" "00023160" "10" "1362" "0" "1362" "0" "c.1362A>G" "r.(=)" "p.(=)" "" "0000669993" "00023160" "10" "1776" "0" "1776" "0" "c.1776T>C" "r.(=)" "p.(=)" "" "0000669994" "00023160" "10" "2976" "0" "2976" "0" "c.2976T>C" "r.(=)" "p.(=)" "" "0000669995" "00023160" "10" "3207" "0" "3207" "0" "c.3207C>T" "r.(=)" "p.(=)" "" "0000678265" "00023160" "30" "199" "19" "199" "19" "c.199+19A>G" "r.(=)" "p.(=)" "" "0000678266" "00023160" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Ter)" "" "0000678267" "00023160" "50" "1661" "0" "1661" "0" "c.1661A>T" "r.(?)" "p.(Asn554Ile)" "" "0000678268" "00023160" "10" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Val763Ile)" "" "0000690134" "00023160" "30" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Glu30Gly)" "" "0000690135" "00023160" "50" "2107" "0" "2107" "0" "c.2107A>C" "r.(?)" "p.(Met703Leu)" "" "0000721762" "00023160" "30" "629" "0" "629" "0" "c.629G>C" "r.(?)" "p.(Ser210Thr)" "" "0000721763" "00023160" "30" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Met544Ile)" "" "0000721764" "00023160" "50" "2501" "0" "2501" "0" "c.2501A>G" "r.(?)" "p.(Lys834Arg)" "" "0000803398" "00023160" "30" "1155" "0" "1155" "0" "c.1155T>C" "r.(?)" "p.(His385=)" "" "0000803399" "00023160" "10" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Ser657Gly)" "" "0000803400" "00023160" "50" "2783" "0" "2783" "0" "c.2783A>G" "r.(?)" "p.(Asn928Ser)" "" "0000861012" "00023160" "50" "959" "0" "959" "0" "c.959A>G" "r.(?)" "p.(His320Arg)" "" "0000861013" "00023160" "50" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Gly920Glu)" "" "0000881328" "00023160" "70" "192" "0" "192" "0" "c.192T>G" "r.(?)" "p.(Cys64Trp)" "" "0000888116" "00023160" "50" "40" "1" "40" "1" "c.40+1G>A" "r.spl?" "p.?" "" "0000888117" "00023160" "30" "1578" "0" "1578" "0" "c.1578G>T" "r.(?)" "p.(Arg526=)" "" "0000888118" "00023160" "50" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Asp979Asn)" "" "0000888119" "00023160" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Lys1074Arg)" "" "0000912867" "00023160" "70" "533" "-1" "533" "-1" "c.533-1G>A" "r.spl?" "p.?" "" "0000912868" "00023160" "50" "1835" "0" "1835" "0" "c.1835A>G" "r.(?)" "p.(His612Arg)" "" "0000929408" "00023160" "30" "2430" "0" "2430" "0" "c.2430A>T" "r.(?)" "p.(=)" "" "0000949001" "00023160" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000964780" "00023160" "50" "3186" "0" "3186" "0" "c.3186C>A" "r.(?)" "p.(Asn1062Lys)" "" "0000977985" "00023160" "50" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Ser532Asn)" "" "0000977986" "00023160" "30" "3086" "0" "3086" "0" "c.3086A>T" "r.(?)" "p.(Lys1029Ile)" "" "0000996859" "00023160" "30" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Asp96Tyr)" "" "0000996860" "00023160" "50" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Asn349Lys)" "" "0000996861" "00023160" "50" "1093" "0" "1093" "0" "c.1093T>C" "r.(?)" "p.(Cys365Arg)" "" "0000996862" "00023160" "30" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Val484Ile)" "" "0000996863" "00023160" "30" "1612" "0" "1612" "0" "c.1612G>C" "r.(?)" "p.(Val538Leu)" "" "0000996864" "00023160" "30" "1912" "0" "1912" "0" "c.1912A>G" "r.(?)" "p.(Asn638Asp)" "" "0000996865" "00023160" "30" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Arg738His)" "" "0000996866" "00023160" "50" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Asp979Asn)" "" "0000996867" "00023160" "50" "3299" "0" "3299" "0" "c.3299A>G" "r.(?)" "p.(Gln1100Arg)" "" "0001014400" "00023160" "50" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Arg260Trp)" "" "0001025472" "00023160" "30" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Glu30Gly)" "" "0001025473" "00023160" "50" "1666" "0" "1666" "0" "c.1666A>T" "r.(?)" "p.(Thr556Ser)" "" "0001025474" "00023160" "50" "2525" "0" "2525" "0" "c.2525G>A" "r.(?)" "p.(Arg842Gln)" "" "0001036684" "00023160" "30" "1770" "0" "1770" "0" "c.1770G>A" "r.(?)" "p.(=)" "" "0001036685" "00023160" "30" "1776" "0" "1776" "0" "c.1776T>C" "r.(?)" "p.(=)" "" "0001036686" "00023160" "30" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(=)" "" "0001036687" "00023160" "30" "2976" "0" "2976" "0" "c.2976T>C" "r.(?)" "p.(Tyr992=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000232377" "0000474786" "0000232377" "0000474787" "0000232516" "0000475100" "0000232521" "0000475101" "0000232521" "0000475106" "0000232559" "0000475102" "0000232567" "0000475103" "0000232628" "0000475104" "0000232636" "0000475105" "0000232652" "0000475107" "0000232654" "0000475109" "0000232658" "0000475108" "0000295714" "0000652403" "0000295715" "0000652404" "0000295716" "0000652405" "0000295717" "0000652406" "0000295718" "0000652407" "0000306304" "0000669992" "0000306305" "0000669993" "0000306306" "0000669994" "0000306307" "0000669995" "0000420969" "0000881328"