### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF513) # 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}}" "ZNF513" "zinc finger protein 513" "2" "p23.3" "unknown" "NG_028219.1" "UD_132118334069" "" "https://www.LOVD.nl/ZNF513" "" "1" "26498" "130557" "613598" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ZNF513_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-11-24 00:00:00" "00006" "2017-02-04 22:29:07" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023490" "ZNF513" "transcript variant 1" "001" "NM_144631.5" "" "NP_653232.3" "" "" "" "-218" "1940" "1626" "27603611" "27600098" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03371" "RP58" "retinitis pigmentosa, type 58 (RP58)" "AR" "613617" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF513" "03371" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00100077" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61115" "00144272" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "F" "no" "China" "" "0" "" "" "Chinese" "" "00173872" "" "" "" "1" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP191" "00232219" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232220" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232221" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232222" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00292701" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292702" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00332248" "" "" "" "2" "" "00000" "{PMID:Astuti 2018:29320387}" "4-generation family, affected mother/daughter, unaffected parents" "" "" "Netherlands" "" "0" "" "" "" "FamK" "00333354" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat12" "00372646" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP339" "00372655" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP296" "00372689" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP109" "00372711" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP229" "00376792" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "59" "00388498" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13009597" "00413759" "" "" "" "1" "" "00000" "{PMID:Chan 2016:27639845}" "" "M" "" "" "" "0" "" "" "" "Case 1" "00413761" "" "" "" "4" "" "00000" "{PMID:Li 2010:20797688}" "" "" "yes" "" "" "0" "" "" "Pakistani" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00100077" "04214" "00144272" "04214" "00173872" "04214" "00232219" "04214" "00232220" "04214" "00232221" "04214" "00232222" "04214" "00292701" "00198" "00292702" "00198" "00332248" "04214" "00333354" "04214" "00372646" "04214" "00372655" "04214" "00372689" "04214" "00372711" "04214" "00376792" "04214" "00388498" "04214" "00413759" "04214" "00413761" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03371, 04214 ## Count = 13 "{{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}}" "0000078317" "04214" "00100077" "01769" "Familial, autosomal recessive" "" "progressive" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000117050" "04214" "00144272" "01780" "Isolated (sporadic)" "" "Age examination 43: first symptom: poor vision, visual acuity OD/OS: 0,8/0,7, fundus exam.: attenuated retinal arteries, pigment deposit" "43y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000138725" "04214" "00173872" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP-38" "retinitis pigmentosa" "" "0000250435" "04214" "00332248" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000251541" "04214" "00333354" "00000" "Familial, autosomal recessive" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267925" "04214" "00372646" "00000" "Familial, autosomal dominant" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267934" "04214" "00372655" "00000" "Familial, autosomal recessive" "26y" "see paper; ..." "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267968" "04214" "00372689" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267990" "04214" "00372711" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272003" "04214" "00376792" "00000" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000282050" "04214" "00388498" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000305724" "04214" "00413759" "00000" "Unknown" "54y" "RP with bone spicule formation in the periphery; constricted visual fields and a generalized reduction in all amplitudes of the full-field electroretinogram." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305726" "04214" "00413761" "00000" "Familial, autosomal recessive" "" "night blindness, followed by loss of peripheral visual field and later loss of central vision, often leading to complete blindness" "" "" "" "" "" "" "" "" "" "Autosomal-recessive RP (arRP)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100480" "00100077" "1" "01769" "01769" "2017-01-30 16:02:48" "" "" "SEQ" "DNA" "WBC" "" "0000145131" "00144272" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000174762" "00173872" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000233318" "00232219" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233319" "00232220" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233320" "00232221" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233321" "00232222" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000293869" "00292701" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293870" "00292702" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000333468" "00332248" "1" "00000" "00006" "2021-02-16 10:11:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000334579" "00333354" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000373878" "00372646" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373887" "00372655" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373921" "00372689" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373943" "00372711" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000377998" "00376792" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000397443" "00388498" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000415039" "00413759" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "" "0000415041" "00413761" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000100480" "ZNF513" "0000145131" "EYS" "0000174762" "MERTK" "0000233318" "ZNF513" "0000233319" "ZNF513" "0000233320" "ZNF513" "0000233321" "ZNF513" "0000333468" "ZNF513" "0000334579" "PDE6B" "0000415039" "NPHP4" "0000415041" "ZNF513" ## 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 = 77 "{{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}}" "0000162779" "3" "90" "2" "27601023" "27601023" "subst" "0.000183286" "01769" "ZNF513_000001" "g.27601023A>G" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "n" "" "g.27378156A>G" "" "pathogenic" "" "0000267797" "0" "10" "2" "27589810" "27589810" "subst" "0.400838" "02325" "EIF2B4_000013" "g.27589810T>C" "" "" "" "EIF2B4(NM_001034116.2):c.1014-7A>G, EIF2B4(NM_001318966.2):c.969-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27366943T>C" "" "benign" "" "0000267798" "0" "10" "2" "27592423" "27592423" "subst" "0.398784" "02325" "EIF2B4_000016" "g.27592423C>T" "" "" "" "EIF2B4(NM_001034116.2):c.76-7G>A, EIF2B4(NM_001318966.2):c.31-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27369556C>T" "" "benign" "" "0000276040" "0" "30" "2" "27593162" "27593162" "subst" "0" "01943" "EIF2B4_000018" "g.27593162G>A" "" "" "" "EIF2B4(NM_001034116.1):c.20C>T (p.A7V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27370295G>A" "" "likely benign" "" "0000276041" "0" "10" "2" "27593155" "27593155" "subst" "0.00105321" "01943" "EIF2B4_000017" "g.27593155G>A" "" "" "" "EIF2B4(NM_001034116.1):c.27C>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27370288G>A" "" "benign" "" "0000276042" "0" "30" "2" "27591591" "27591591" "subst" "0.000195003" "01943" "EIF2B4_000015" "g.27591591C>T" "" "" "" "EIF2B4(NM_001034116.1):c.428G>A (p.R143H, p.(Arg143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27368724C>T" "" "likely benign" "" "0000276043" "0" "30" "2" "27590316" "27590316" "subst" "7.72326E-5" "01943" "EIF2B4_000014" "g.27590316C>G" "" "" "" "EIF2B4(NM_001318966.1):c.840+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27367449C>G" "" "likely benign" "" "0000306230" "0" "30" "2" "27604483" "27604483" "subst" "0.000519767" "01943" "PPM1G_000002" "g.27604483T>C" "" "" "" "PPM1G(NM_177983.3):c.1624A>G (p.K542E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27381616T>C" "" "likely benign" "" "0000306231" "0" "30" "2" "27604482" "27604482" "subst" "0.000519772" "01943" "PPM1G_000001" "g.27604482T>G" "" "" "" "PPM1G(NM_177983.3):c.1625A>C (p.K542T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27381615T>G" "" "likely benign" "" "0000311473" "0" "10" "2" "27600778" "27600778" "subst" "0.00145818" "02330" "ZNF513_000002" "g.27600778G>A" "" "" "" "ZNF513(NM_144631.6):c.1260C>T (p.L420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27377911G>A" "" "benign" "" "0000311474" "0" "30" "2" "27601724" "27601724" "subst" "3.61112E-5" "02330" "ZNF513_000007" "g.27601724C>T" "" "" "" "ZNF513(NM_144631.6):c.409G>A (p.G137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27378857C>T" "" "likely benign" "" "0000311475" "0" "30" "2" "27601384" "27601384" "subst" "0.000645799" "02330" "ZNF513_000006" "g.27601384C>T" "" "" "" "ZNF513(NM_144631.6):c.749G>A (p.R250Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27378517C>T" "" "likely benign" "" "0000311476" "0" "50" "2" "27601346" "27601346" "subst" "7.37421E-5" "02330" "ZNF513_000005" "g.27601346G>A" "" "" "" "ZNF513(NM_144631.6):c.787C>T (p.R263W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27378479G>A" "" "VUS" "" "0000311477" "0" "50" "2" "27601169" "27601169" "subst" "4.26843E-6" "02330" "ZNF513_000004" "g.27601169C>T" "" "" "" "ZNF513(NM_144631.6):c.869G>A (p.G290E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27378302C>T" "" "VUS" "" "0000320299" "0" "50" "2" "27601152" "27601152" "subst" "5.12024E-5" "01943" "ZNF513_000003" "g.27601152C>T" "" "" "" "ZNF513(NM_144631.5):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27378285C>T" "" "VUS" "" "0000326912" "0" "50" "2" "27597588" "27597588" "subst" "9.74548E-5" "01804" "SNX17_000001" "g.27597588T>C" "" "" "" "SNX17(NM_001267059.1):c.608T>C (p.(Met203Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27374721T>C" "" "VUS" "" "0000476026" "0" "50" "2" "27601160" "27601160" "subst" "0.00131497" "02591" "ZNF513_000011" "g.27601160C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61740138" "0" "" "" "g.27378293C>T" "" "VUS" "" "0000476027" "0" "50" "2" "27601393" "27601393" "subst" "8.1664E-6" "02591" "ZNF513_000008" "g.27601393C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs139008988" "0" "" "" "g.27378526C>T" "" "VUS" "" "0000476028" "0" "50" "2" "27601514" "27601514" "subst" "6.10217E-5" "02591" "ZNF513_000009" "g.27601514G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140620118" "0" "" "" "g.27378647G>A" "" "VUS" "" "0000476029" "0" "50" "2" "27601759" "27601759" "subst" "0" "02591" "ZNF513_000010" "g.27601759C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.27378892C>T" "" "VUS" "" "0000515546" "0" "50" "2" "27592744" "27592744" "subst" "0" "01943" "EIF2B4_000019" "g.27592744C>A" "" "" "" "EIF2B4(NM_001034116.2):c.74G>T (p.(Gly25Val)), EIF2B4(NM_001318966.1):c.29G>T (p.G10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27369877C>A" "" "VUS" "" "0000515547" "0" "50" "2" "27600555" "27600555" "subst" "0.000105611" "01943" "PPM1G_000003" "g.27600555C>T" "" "" "" "ZNF513(NM_144631.5):c.1483G>A (p.G495S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27377688C>T" "" "VUS" "" "0000515548" "0" "10" "2" "27600886" "27600886" "subst" "9.77756E-5" "02330" "PPM1G_000004" "g.27600886A>G" "" "" "" "ZNF513(NM_144631.5):c.1152T>C (p.G384=), ZNF513(NM_144631.6):c.1152T>C (p.G384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378019A>G" "" "benign" "" "0000515549" "0" "30" "2" "27600972" "27600972" "subst" "4.8893E-5" "01943" "PPM1G_000005" "g.27600972T>C" "" "" "" "ZNF513(NM_144631.5):c.1066A>G (p.S356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378105T>C" "" "likely benign" "" "0000515550" "0" "10" "2" "27601160" "27601160" "subst" "0.00131497" "02330" "ZNF513_000011" "g.27601160C>T" "" "" "" "ZNF513(NM_144631.5):c.878G>A (p.R293Q), ZNF513(NM_144631.6):c.878G>A (p.R293Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378293C>T" "" "benign" "" "0000515551" "0" "10" "2" "27601160" "27601160" "subst" "0.00131497" "01943" "ZNF513_000011" "g.27601160C>T" "" "" "" "ZNF513(NM_144631.5):c.878G>A (p.R293Q), ZNF513(NM_144631.6):c.878G>A (p.R293Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378293C>T" "" "benign" "" "0000515552" "0" "50" "2" "27601208" "27601208" "subst" "0" "02330" "PPM1G_000006" "g.27601208T>C" "" "" "" "ZNF513(NM_144631.6):c.830A>G (p.H277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378341T>C" "" "VUS" "" "0000515553" "0" "30" "2" "27601352" "27601352" "subst" "0.000479296" "01943" "PPM1G_000007" "g.27601352C>T" "" "" "" "ZNF513(NM_144631.5):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378485C>T" "" "likely benign" "" "0000515555" "0" "30" "2" "27601843" "27601843" "subst" "0.00168309" "02330" "PPM1G_000009" "g.27601843G>A" "" "" "" "ZNF513(NM_144631.5):c.290C>T (p.A97V), ZNF513(NM_144631.6):c.290C>T (p.A97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378976G>A" "" "likely benign" "" "0000515556" "0" "50" "2" "27601843" "27601843" "subst" "0.00168309" "01943" "PPM1G_000009" "g.27601843G>A" "" "" "" "ZNF513(NM_144631.5):c.290C>T (p.A97V), ZNF513(NM_144631.6):c.290C>T (p.A97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378976G>A" "" "VUS" "" "0000515557" "0" "10" "2" "27603323" "27603323" "subst" "0.000100488" "02330" "PPM1G_000010" "g.27603323G>A" "" "" "" "ZNF513(NM_144631.6):c.55+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27380456G>A" "" "benign" "" "0000515558" "0" "10" "2" "27603361" "27603361" "subst" "0.000104429" "02330" "PPM1G_000011" "g.27603361G>A" "" "" "" "ZNF513(NM_144631.5):c.33C>T (p.P11=), ZNF513(NM_144631.6):c.33C>T (p.P11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27380494G>A" "" "benign" "" "0000607889" "0" "30" "2" "27589933" "27589933" "subst" "7.31267E-5" "01943" "EIF2B4_000020" "g.27589933G>A" "" "" "" "EIF2B4(NM_001318966.1):c.968+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27367066G>A" "" "likely benign" "" "0000607890" "0" "30" "2" "27601054" "27601054" "subst" "0.000263316" "02330" "PPM1G_000012" "g.27601054A>T" "" "" "" "ZNF513(NM_144631.6):c.984T>A (p.G328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27378187A>T" "" "likely benign" "" "0000650558" "1" "50" "2" "27601023" "27601023" "subst" "0.000183286" "03575" "ZNF513_000001" "g.27601023A>G" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs267607182}" "Germline" "" "rs267607182" "0" "" "" "g.27378156A>G" "" "VUS" "" "0000650559" "1" "50" "2" "27601514" "27601514" "subst" "6.10217E-5" "03575" "ZNF513_000009" "g.27601514G>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140620118}" "Germline" "" "rs140620118" "0" "" "" "g.27378647G>A" "" "VUS" "" "0000654619" "0" "30" "2" "27603361" "27603361" "subst" "0.000104429" "01943" "PPM1G_000011" "g.27603361G>A" "" "" "" "ZNF513(NM_144631.5):c.33C>T (p.P11=), ZNF513(NM_144631.6):c.33C>T (p.P11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27380494G>A" "" "likely benign" "" "0000676609" "0" "30" "2" "27592755" "27592755" "subst" "0" "01943" "EIF2B4_000022" "g.27592755G>A" "" "" "" "EIF2B4(NM_001318966.1):c.18C>T (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676610" "0" "50" "2" "27601345" "27601345" "subst" "7.78759E-5" "01943" "PPM1G_000013" "g.27601345C>A" "" "" "" "ZNF513(NM_144631.5):c.788G>T (p.R263L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718727" "0" "30" "2" "27592296" "27592296" "subst" "0.000150244" "01943" "EIF2B4_000023" "g.27592296C>T" "" "" "" "EIF2B4(NM_001318966.1):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718728" "0" "50" "2" "27600471" "27600471" "subst" "1.21965E-5" "01943" "PPM1G_000014" "g.27600471G>A" "" "" "" "ZNF513(NM_144631.5):c.1567C>T (p.R523W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718729" "0" "50" "2" "27600886" "27600886" "subst" "9.77756E-5" "01943" "PPM1G_000004" "g.27600886A>G" "" "" "" "ZNF513(NM_144631.5):c.1152T>C (p.G384=), ZNF513(NM_144631.6):c.1152T>C (p.G384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718730" "0" "50" "2" "27601088" "27601088" "subst" "0.000204879" "01943" "PPM1G_000015" "g.27601088C>T" "" "" "" "ZNF513(NM_144631.5):c.950G>A (p.R317Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718731" "0" "50" "2" "27601813" "27601813" "subst" "1.68559E-5" "01943" "PPM1G_000016" "g.27601813C>T" "" "" "" "ZNF513(NM_144631.5):c.320G>A (p.G107D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731119" "1" "50" "2" "27601409" "27601409" "subst" "8.15887E-6" "00000" "ZNF513_000012" "g.27601409G>A" "" "{PMID:Astuti 2018:29320387}" "" "" "ACMG PP2, PM2" "Germline" "" "" "0" "" "" "g.27378542G>A" "" "VUS" "ACMG" "0000732462" "0" "50" "2" "27603075" "27603075" "subst" "4.06068E-6" "00000" "ZNF513_000013" "g.27603075C>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.27380208C>G" "" "VUS" "" "0000784137" "0" "70" "2" "27601385" "27601385" "subst" "0.000326877" "00000" "ZNF513_000015" "g.27601385G>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs200255167" "0" "" "" "g.27378518G>A" "" "likely pathogenic (recessive)" "" "0000784142" "0" "70" "2" "27601385" "27601385" "subst" "0.000326877" "00000" "ZNF513_000015" "g.27601385G>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs200255167" "0" "" "" "g.27378518G>A" "" "likely pathogenic (recessive)" "" "0000784256" "0" "70" "2" "27600536" "27600536" "subst" "0" "00000" "ZNF513_000014" "g.27600536C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.27377669C>T" "" "likely pathogenic (recessive)" "" "0000784387" "0" "70" "2" "27601385" "27601385" "subst" "0.000326877" "00000" "ZNF513_000015" "g.27601385G>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs200255167" "0" "" "" "g.27378518G>A" "" "likely pathogenic (recessive)" "" "0000784402" "0" "70" "2" "27603024" "27603029" "dup" "0" "00000" "ZNF513_000017" "g.27603024_27603029dup" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.153_158dup6" "" "Germline" "" "" "0" "" "" "g.27380157_27380162dup" "" "likely pathogenic (recessive)" "" "0000784435" "0" "50" "2" "27601448" "27601448" "subst" "5.70307E-5" "00000" "ZNF513_000016" "g.27601448C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.27378581C>T" "" "VUS" "" "0000790628" "0" "50" "2" "27601439" "27601439" "subst" "0.00272572" "00000" "ZNF513_000018" "g.27601439G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs116121798" "0" "" "" "g.27378572G>A" "" "VUS" "" "0000800563" "0" "30" "2" "27591919" "27591919" "subst" "0.00059285" "01943" "EIF2B4_000025" "g.27591919T>C" "" "" "" "EIF2B4(NM_001318966.1):c.327A>G (p.G109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800564" "0" "30" "2" "27603333" "27603339" "del" "0" "02330" "PPM1G_000017" "g.27603333_27603339del" "" "" "" "ZNF513(NM_144631.6):c.55+9_55+15delTCAGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829420" "0" "50" "2" "27600408" "62081181" "dup" "0" "00006" "FAM161A_000000" "g.(?_27600408)_(62081181_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "27600408–62081181dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849846" "0" "30" "2" "27601437" "27601437" "subst" "0.000191577" "02330" "PPM1G_000018" "g.27601437G>A" "" "" "" "ZNF513(NM_144631.6):c.696C>T (p.P232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858478" "0" "50" "2" "27601738" "27601738" "subst" "0.00079963" "01943" "PPM1G_000019" "g.27601738C>G" "" "" "" "ZNF513(NM_144631.5):c.395G>C (p.C132S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872778" "0" "50" "2" "27601152" "27601152" "subst" "5.12024E-5" "00000" "ZNF513_000003" "g.27601152C>T" "" "{PMID:Chan 2016:27639845}" "" "c.886G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000872781" "3" "90" "2" "27601023" "27601023" "subst" "0.000183286" "00000" "ZNF513_000001" "g.27601023A>G" "" "{PMID:Li 2010:20797688}" "" "c.1015T>C [p.C339R]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000911681" "0" "10" "2" "27589810" "27589810" "subst" "0.400838" "02329" "EIF2B4_000013" "g.27589810T>C" "" "" "" "EIF2B4(NM_001034116.2):c.1014-7A>G, EIF2B4(NM_001318966.2):c.969-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911682" "0" "10" "2" "27592101" "27592101" "del" "0" "02329" "EIF2B4_000026" "g.27592101del" "" "" "" "EIF2B4(NM_001318966.2):c.167-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911683" "0" "10" "2" "27592423" "27592423" "subst" "0.398784" "02329" "EIF2B4_000016" "g.27592423C>T" "" "" "" "EIF2B4(NM_001034116.2):c.76-7G>A, EIF2B4(NM_001318966.2):c.31-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923676" "0" "10" "2" "27592101" "27592101" "dup" "0" "02329" "EIF2B4_000027" "g.27592101dup" "" "" "" "EIF2B4(NM_001318966.2):c.167-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975200" "0" "50" "2" "27589799" "27589799" "subst" "0" "01804" "EIF2B4_000028" "g.27589799A>G" "" "" "" "EIF2B4(NM_001034116.2):c.1018T>C (p.(Ser340Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975201" "0" "30" "2" "27590038" "27590038" "subst" "0.0155816" "01804" "EIF2B4_000008" "g.27590038G>C" "" "" "" "EIF2B4(NM_001034116.2):c.916C>G (p.(Arg306Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975202" "0" "10" "2" "27590666" "27590666" "subst" "0.0170121" "01804" "EIF2B4_000029" "g.27590666C>T" "" "" "" "EIF2B4(NM_001034116.2):c.729G>A (p.(Pro243=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975203" "0" "50" "2" "27591523" "27591523" "subst" "0" "01804" "EIF2B4_000030" "g.27591523G>C" "" "" "" "EIF2B4(NM_001034116.2):c.496C>G (p.(Gln166Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975204" "0" "50" "2" "27598471" "27598471" "subst" "0.000990951" "01804" "SNX17_000002" "g.27598471C>T" "" "" "" "SNX17(NM_014748.4):c.873C>T (p.(Ser291=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992791" "0" "30" "2" "27591591" "27591591" "subst" "0.000195003" "01804" "EIF2B4_000015" "g.27591591C>T" "" "" "" "EIF2B4(NM_001034116.1):c.428G>A (p.R143H, p.(Arg143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033254" "0" "50" "2" "27589688" "27589688" "subst" "1.21819E-5" "01804" "EIF2B4_000032" "g.27589688C>G" "" "" "" "EIF2B4(NM_001034116.2):c.1129G>C (p.(Val377Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033255" "0" "50" "2" "27592744" "27592744" "subst" "0" "01804" "EIF2B4_000019" "g.27592744C>A" "" "" "" "EIF2B4(NM_001034116.2):c.74G>T (p.(Gly25Val)), EIF2B4(NM_001318966.1):c.29G>T (p.G10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033256" "0" "50" "2" "27599384" "27599384" "subst" "4.46664E-5" "01804" "PPM1G_000020" "g.27599384C>G" "" "" "" "SNX17(NM_014748.4):c.1296C>G (p.(Leu432=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050560" "0" "50" "2" "27590395" "27590395" "subst" "0" "01804" "EIF2B4_000033" "g.27590395T>G" "" "" "" "EIF2B4(NM_001034116.2):c.814A>C (p.(Ser272Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050561" "0" "50" "2" "27590958" "27590958" "subst" "4.46987E-6" "01804" "EIF2B4_000034" "g.27590958C>G" "" "" "" "EIF2B4(NM_001034116.2):c.639G>C (p.(Gln213His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050562" "0" "50" "2" "27591320" "27591320" "subst" "4.06058E-6" "01804" "EIF2B4_000035" "g.27591320C>T" "" "" "" "EIF2B4(NM_001034116.2):c.509G>A (p.(Arg170Gln))" "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 ZNF513 ## Count = 77 "{{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}}" "0000162779" "00023490" "90" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Cys339Arg)" "4" "0000267797" "00023490" "10" "12228" "0" "12228" "0" "c.*10602A>G" "r.(=)" "p.(=)" "" "0000267798" "00023490" "10" "9615" "0" "9615" "0" "c.*7989G>A" "r.(=)" "p.(=)" "" "0000276040" "00023490" "30" "8876" "0" "8876" "0" "c.*7250C>T" "r.(=)" "p.(=)" "" "0000276041" "00023490" "10" "8883" "0" "8883" "0" "c.*7257C>T" "r.(=)" "p.(=)" "" "0000276042" "00023490" "30" "10447" "0" "10447" "0" "c.*8821G>A" "r.(=)" "p.(=)" "" "0000276043" "00023490" "30" "11722" "0" "11722" "0" "c.*10096G>C" "r.(=)" "p.(=)" "" "0000306230" "00023490" "30" "-1090" "0" "-1090" "0" "c.-1090A>G" "r.(?)" "p.(=)" "" "0000306231" "00023490" "30" "-1089" "0" "-1089" "0" "c.-1089A>C" "r.(?)" "p.(=)" "" "0000311473" "00023490" "10" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Leu420=)" "" "0000311474" "00023490" "30" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Arg)" "" "0000311475" "00023490" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000311476" "00023490" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Trp)" "" "0000311477" "00023490" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Glu)" "" "0000320299" "00023490" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "" "0000326912" "00023490" "50" "4450" "0" "4450" "0" "c.*2824A>G" "r.(=)" "p.(=)" "" "0000476026" "00023490" "50" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Arg293Gln)" "" "0000476027" "00023490" "50" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "" "0000476028" "00023490" "50" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207Cys)" "" "0000476029" "00023490" "50" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Gly125Glu)" "" "0000515546" "00023490" "50" "9294" "0" "9294" "0" "c.*7668G>T" "r.(=)" "p.(=)" "" "0000515547" "00023490" "50" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Gly495Ser)" "" "0000515548" "00023490" "10" "1152" "0" "1152" "0" "c.1152T>C" "r.(?)" "p.(Gly384=)" "" "0000515549" "00023490" "30" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Ser356Gly)" "" "0000515550" "00023490" "10" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Arg293Gln)" "" "0000515551" "00023490" "10" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Arg293Gln)" "" "0000515552" "00023490" "50" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(His277Arg)" "" "0000515553" "00023490" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000515555" "00023490" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000515556" "00023490" "50" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000515557" "00023490" "10" "55" "16" "55" "16" "c.55+16C>T" "r.(=)" "p.(=)" "" "0000515558" "00023490" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Pro11=)" "" "0000607889" "00023490" "30" "12105" "0" "12105" "0" "c.*10479C>T" "r.(=)" "p.(=)" "" "0000607890" "00023490" "30" "984" "0" "984" "0" "c.984T>A" "r.(?)" "p.(Gly328=)" "" "0000650558" "00023490" "50" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Cys339Arg)" "" "0000650559" "00023490" "50" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207Cys)" "" "0000654619" "00023490" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Pro11=)" "" "0000676609" "00023490" "30" "9283" "0" "9283" "0" "c.*7657C>T" "r.(=)" "p.(=)" "" "0000676610" "00023490" "50" "788" "0" "788" "0" "c.788G>T" "r.(?)" "p.(Arg263Leu)" "" "0000718727" "00023490" "30" "9742" "0" "9742" "0" "c.*8116G>A" "r.(=)" "p.(=)" "" "0000718728" "00023490" "50" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Trp)" "" "0000718729" "00023490" "50" "1152" "0" "1152" "0" "c.1152T>C" "r.(?)" "p.(Gly384=)" "" "0000718730" "00023490" "50" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317Gln)" "" "0000718731" "00023490" "50" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Asp)" "" "0000731119" "00023490" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "0000732462" "00023490" "50" "96" "0" "96" "0" "c.96G>C" "r.(?)" "p.(Leu32=)" "" "0000784137" "00023490" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000784142" "00023490" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000784256" "00023490" "70" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Gly501Glu)" "" "0000784387" "00023490" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000784402" "00023490" "70" "153" "0" "158" "0" "c.153_158dup" "r.(?)" "p.(Glu53_Glu54dup)" "" "0000784435" "00023490" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000790628" "00023490" "50" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Pro232Ser)" "" "0000800563" "00023490" "30" "10119" "0" "10119" "0" "c.*8493A>G" "r.(=)" "p.(=)" "" "0000800564" "00023490" "30" "55" "9" "55" "15" "c.55+9_55+15del" "r.(=)" "p.(=)" "" "0000829418" "00023490" "50" "-8388608" "0" "1630" "0" "c.-34477788_*4dup" "" "" "" "0000829420" "00023490" "50" "0" "0" "0" "0" "c.{2}" "r.?" "p.?" "" "0000849846" "00023490" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Pro232=)" "" "0000858478" "00023490" "50" "395" "0" "395" "0" "c.395G>C" "r.(?)" "p.(Cys132Ser)" "" "0000872778" "00023490" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "4" "0000872781" "00023490" "90" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Cys339Arg)" "4" "0000911681" "00023490" "10" "12228" "0" "12228" "0" "c.*10602A>G" "r.(=)" "p.(=)" "" "0000911682" "00023490" "10" "9947" "0" "9947" "0" "c.*8321del" "r.(?)" "p.(=)" "" "0000911683" "00023490" "10" "9615" "0" "9615" "0" "c.*7989G>A" "r.(=)" "p.(=)" "" "0000923676" "00023490" "10" "9947" "0" "9947" "0" "c.*8321dup" "r.(?)" "p.(=)" "" "0000975200" "00023490" "50" "12239" "0" "12239" "0" "c.*10613T>C" "r.(=)" "p.(=)" "" "0000975201" "00023490" "30" "12000" "0" "12000" "0" "c.*10374C>G" "r.(=)" "p.(=)" "" "0000975202" "00023490" "10" "11372" "0" "11372" "0" "c.*9746G>A" "r.(=)" "p.(=)" "" "0000975203" "00023490" "50" "10515" "0" "10515" "0" "c.*8889C>G" "r.(=)" "p.(=)" "" "0000975204" "00023490" "50" "3567" "0" "3567" "0" "c.*1941G>A" "r.(=)" "p.(=)" "" "0000992791" "00023490" "30" "10447" "0" "10447" "0" "c.*8821G>A" "r.(=)" "p.(=)" "" "0001033254" "00023490" "50" "12350" "0" "12350" "0" "c.*10724G>C" "r.(=)" "p.(=)" "" "0001033255" "00023490" "50" "9294" "0" "9294" "0" "c.*7668G>T" "r.(=)" "p.(=)" "" "0001033256" "00023490" "50" "2654" "0" "2654" "0" "c.*1028G>C" "r.(=)" "p.(=)" "" "0001050560" "00023490" "50" "11643" "0" "11643" "0" "c.*10017A>C" "r.(=)" "p.(=)" "" "0001050561" "00023490" "50" "11080" "0" "11080" "0" "c.*9454G>C" "r.(=)" "p.(=)" "" "0001050562" "00023490" "50" "10718" "0" "10718" "0" "c.*9092G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000100480" "0000162779" "0000145131" "0000784142" "0000174762" "0000784137" "0000233318" "0000476026" "0000233319" "0000476027" "0000233320" "0000476028" "0000233321" "0000476029" "0000293869" "0000650558" "0000293870" "0000650559" "0000333468" "0000731119" "0000334579" "0000732462" "0000373878" "0000784402" "0000373887" "0000784387" "0000373921" "0000784435" "0000373943" "0000784256" "0000377998" "0000790628" "0000397443" "0000829420" "0000415039" "0000872778" "0000415041" "0000872781"