### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PACS2) # 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}}" "PACS2" "phosphofurin acidic cluster sorting protein 2" "14" "q32" "unknown" "NC_000014.8" "UD_136089957107" "" "https://www.LOVD.nl/PACS2" "" "1" "23794" "23241" "610423" "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/PACS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-14 21:25:26" "00006" "2025-09-08 21:17:38" ## 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}}" "00015588" "PACS2" "transcript variant 1" "002" "NM_001100913.2" "" "NP_001094383.2" "" "" "" "-504" "6190" "2715" "105780752" "105864484" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05788" "EIEE66" "encephalopathy, epileptic, early infantile, type 66 (EIEE66)" "AD" "618067" "" "" "" "00006" "2020-07-14 19:33:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PACS2" "05788" ## 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}}" "00164664" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat1" "00164665" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat2" "00164666" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "29656858-Pat3" "00164667" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat4" "00164668" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "29656858-Pat5" "00164669" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "29656858-Pat6" "00164670" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "29656858-Pat7" "00164671" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat8" "00164672" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat9" "00164673" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "29656858-Pat10" "00164674" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "29656858-Pat11" "00164675" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat12" "00164676" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "29656858-Pat13" "00164677" "" "" "" "1" "" "00006" "{PMID:Olson 2018:29656858}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "29656858-Pat14" "00205869" "" "" "" "1" "" "03104" "" "" "F" "no" "China" "" "0" "" "" "" "patient8" "00301268" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "" "" "" "" "" "00306187" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "85" "00440413" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2234.1" "00466504" "" "" "" "1" "" "00006" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00164664" "00198" "00164665" "00198" "00164666" "00198" "00164667" "00198" "00164668" "00198" "00164669" "00198" "00164670" "00198" "00164671" "00198" "00164672" "00198" "00164673" "00198" "00164674" "00198" "00164675" "00198" "00164676" "00198" "00164677" "00198" "00205869" "04270" "00301268" "00841" "00306187" "00198" "00440413" "00198" "00466504" "05521" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00841, 04270, 05521, 05788 ## Count = 19 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000129701" "00198" "00164664" "00006" "Isolated (sporadic)" "16y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129702" "00198" "00164665" "00006" "Isolated (sporadic)" "4y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129703" "00198" "00164666" "00006" "Isolated (sporadic)" "15y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129704" "00198" "00164667" "00006" "Isolated (sporadic)" "8y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129705" "00198" "00164668" "00006" "Isolated (sporadic)" "1y7m" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129706" "00198" "00164669" "00006" "Isolated (sporadic)" "8y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129707" "00198" "00164670" "00006" "Isolated (sporadic)" "1y1m" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129708" "00198" "00164671" "00006" "Isolated (sporadic)" "5y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129709" "00198" "00164672" "00006" "Isolated (sporadic)" "3y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129710" "00198" "00164673" "00006" "Isolated (sporadic)" "7y" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129711" "00198" "00164674" "00006" "Isolated (sporadic)" "12y6m" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129712" "00198" "00164675" "00006" "Isolated (sporadic)" "9m" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129713" "00198" "00164676" "00006" "Isolated (sporadic)" "3y6m" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000129714" "00198" "00164677" "00006" "Isolated (sporadic)" "5y6m" "see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "" "0000154012" "04270" "00205869" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228538" "00841" "00301268" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000232034" "00198" "00306187" "03695" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "EIEE66" "early infantile epileptic encephalopathy" "" "0000330323" "00198" "00440413" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Syndromic ID (on submission study)" "" "" "0000351867" "05521" "00466504" "00006" "Isolated (sporadic)" "03y" "see paper; ..., neonatal onset seizures, mild dysmorphic features, developmental delay; birth cesarean delivery, hypotonic, high arched palate, micrognathia, muscular cardiac ventricle septal defect, micropenis; poor suck, difficulty with latching, required feeding tube; 5d-seizures, EEG abnormal, focal seizures" "" "" "" "" "" "" "" "" "" "EIEE66" "neonatal onset seizures" "" ## 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}}" "0000165530" "00164664" "1" "00006" "00006" "2018-06-04 21:52:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165531" "00164665" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165532" "00164666" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165533" "00164667" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165534" "00164668" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165535" "00164669" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165536" "00164670" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165537" "00164671" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165538" "00164672" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165539" "00164673" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165540" "00164674" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165541" "00164675" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165542" "00164676" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165543" "00164677" "1" "00006" "00006" "2018-06-04 22:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000206900" "00205869" "1" "03104" "03104" "2018-11-12 12:54:13" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "" "0000302392" "00301268" "1" "03512" "03512" "2020-05-11 21:01:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000307321" "00306187" "1" "03695" "03695" "2020-07-11 03:16:56" "" "" "SEQ-NG" "DNA" "" "" "0000441898" "00440413" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468167" "00466504" "1" "00006" "00006" "2025-09-08 21:16:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000165530" "PACS2" "0000165531" "PACS2" "0000165532" "PACS2" "0000165533" "PACS2" "0000165534" "PACS2" "0000165535" "PACS2" "0000165536" "PACS2" "0000165537" "PACS2" "0000165538" "PACS2" "0000165539" "PACS2" "0000165540" "PACS2" "0000165541" "PACS2" "0000165542" "PACS2" "0000165543" "PACS2" "0000206900" "PACS2" "0000307321" "PACS2" ## 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 = 79 "{{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}}" "0000272157" "0" "30" "14" "105688199" "105688199" "subst" "4.61587E-5" "01943" "BRF1_000003" "g.105688199G>A" "" "" "" "BRF1(NM_001519.4):c.1101C>T (p.D367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105221862G>A" "" "likely benign" "" "0000304904" "0" "50" "14" "105847365" "105847365" "subst" "0.000106977" "01943" "PACS2_000001" "g.105847365T>G" "" "" "" "PACS2(NM_001100913.2):c.1197T>G (p.D399E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105381028T>G" "" "VUS" "" "0000304905" "0" "30" "14" "105781325" "105781325" "subst" "8.13868E-5" "01943" "PACS2_000004" "g.105781325C>T" "" "" "" "PACS2(NM_001100913.2):c.70C>T (p.L24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105314988C>T" "" "likely benign" "" "0000323887" "0" "50" "14" "105834449" "105834449" "subst" "0" "01804" "PACS2_000003" "g.105834449G>A" "" "" "" "PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105368112G>A" "" "VUS" "" "0000323888" "0" "50" "14" "105849180" "105849180" "subst" "3.32242E-5" "01804" "PACS2_000002" "g.105849180G>A" "" "" "" "PACS2(NM_001100913.2):c.1555G>A (p.(Val519Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105382843G>A" "" "VUS" "" "0000345234" "0" "90" "14" "105834449" "105834449" "subst" "0" "02327" "PACS2_000003" "g.105834449G>A" "" "" "" "PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000348351" "0" "70" "14" "105693011" "105693011" "subst" "4.10455E-6" "02327" "BRF1_000006" "g.105693011G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105226674G>T" "" "likely pathogenic" "" "0000369248" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369249" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369250" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369251" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369252" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369253" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369254" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369255" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369256" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369257" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369258" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369259" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369260" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000369261" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Olson 2018:29656858}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000436547" "0" "90" "14" "105834449" "105834449" "subst" "0" "03104" "PACS2_000003" "g.105834449G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic" "" "0000551444" "0" "70" "14" "105707622" "105707622" "subst" "0" "02327" "BRF1_000007" "g.105707622G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105241285G>A" "" "likely pathogenic" "" "0000551447" "0" "30" "14" "105833616" "105833616" "subst" "0" "01804" "BRF1_000010" "g.105833616G>A" "" "" "" "PACS2(NM_001100913.2):c.490G>A (p.(Val164Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105367279G>A" "" "likely benign" "" "0000551449" "0" "30" "14" "105847373" "105847373" "subst" "0.000460958" "01943" "BRF1_000012" "g.105847373C>T" "" "" "" "PACS2(NM_001100913.2):c.1205C>T (p.T402M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105381036C>T" "" "likely benign" "" "0000551451" "0" "30" "14" "105860980" "105860980" "subst" "0.00158122" "01943" "BRF1_000014" "g.105860980A>G" "" "" "" "PACS2(NM_001100913.2):c.2686A>G (p.I896V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105394643A>G" "" "likely benign" "" "0000614754" "0" "50" "14" "105818730" "105818730" "subst" "0" "01943" "BRF1_000017" "g.105818730C>A" "" "" "" "PACS2(NM_001100913.2):c.223C>A (p.L75M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105352393C>A" "" "VUS" "" "0000614755" "0" "30" "14" "105858062" "105858062" "subst" "0" "01943" "BRF1_000019" "g.105858062G>C" "" "" "" "PACS2(NM_001100913.2):c.2214G>C (p.P738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105391725G>C" "" "likely benign" "" "0000623095" "0" "30" "14" "105683992" "105683992" "subst" "2.44308E-5" "01943" "BRF1_000015" "g.105683992G>C" "" "" "" "BRF1(NM_001519.4):c.1661C>G (p.P554R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105217655G>C" "" "likely benign" "" "0000623096" "0" "30" "14" "105722725" "105722725" "subst" "0.000475147" "01943" "BRF1_000016" "g.105722725C>T" "" "" "" "BRF1(NM_001242790.1):c.601G>A (p.V201I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105256388C>T" "" "likely benign" "" "0000623097" "0" "30" "14" "105834864" "105834864" "subst" "0.000178804" "02325" "BRF1_000018" "g.105834864G>A" "" "" "" "PACS2(NM_001100913.3):c.729G>A (p.T243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105368527G>A" "" "likely benign" "" "0000623098" "0" "50" "14" "105858069" "105858069" "subst" "0" "02325" "BRF1_000020" "g.105858069T>A" "" "" "" "PACS2(NM_001100913.3):c.2221T>A (p.S741T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105391732T>A" "" "VUS" "" "0000657366" "0" "70" "14" "105834434" "105834434" "subst" "0" "02327" "BRF1_000021" "g.105834434G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105368097G>A" "" "likely pathogenic" "" "0000665626" "0" "50" "14" "105781313" "105781313" "subst" "0" "03512" "PACS2_000005" "g.105781313G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.105314976G>A" "" "VUS" "" "0000673939" "0" "90" "14" "105834449" "105834449" "subst" "0" "03695" "PACS2_000003" "g.105834449G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000691602" "0" "50" "14" "105695164" "105695164" "subst" "0" "01943" "BRF1_000022" "g.105695164G>C" "" "" "" "BRF1(NM_001519.4):c.781C>G (p.R261G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724657" "0" "50" "14" "105707698" "105707698" "subst" "0" "01943" "BRF1_000008" "g.105707698T>G" "" "" "" "BRF1(NM_001519.4):c.598A>C (p.N200H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724658" "0" "50" "14" "105707699" "105707699" "subst" "0" "01943" "BRF1_000009" "g.105707699C>G" "" "" "" "BRF1(NM_001519.4):c.597G>C (p.K199N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806284" "0" "30" "14" "105814891" "105814891" "subst" "0.00159043" "02325" "BRF1_000023" "g.105814891T>G" "" "" "" "PACS2(NM_001100913.3):c.181T>G (p.S61A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806285" "0" "90" "14" "105834449" "105834449" "subst" "0" "02329" "PACS2_000003" "g.105834449G>A" "" "" "" "PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853731" "0" "30" "14" "105821439" "105821439" "subst" "0.00074515" "02326" "BRF1_000026" "g.105821439G>A" "" "" "" "PACS2(NM_001100913.3):c.348G>A (p.Q116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863482" "0" "70" "14" "105677516" "105677516" "del" "0" "02327" "BRF1_000024" "g.105677516del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863483" "0" "50" "14" "105716323" "105716323" "subst" "0" "01943" "BRF1_000025" "g.105716323G>A" "" "" "" "BTBD6(NM_033271.2):c.772G>A (p.A258T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891668" "0" "90" "14" "105834449" "105834449" "subst" "0" "02325" "PACS2_000003" "g.105834449G>A" "" "" "" "PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909922" "0" "50" "14" "105846102" "105846102" "subst" "0" "03779" "PACS2_000006" "g.105846102C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000914145" "0" "30" "14" "105843099" "105843099" "subst" "1.64977E-5" "02326" "BRF1_000027" "g.105843099G>A" "" "" "" "PACS2(NM_001100913.3):c.802-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914146" "0" "30" "14" "105857981" "105857981" "subst" "7.56093E-5" "02326" "BRF1_000028" "g.105857981C>G" "" "" "" "PACS2(NM_001100913.3):c.2133C>G (p.D711E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930268" "0" "30" "14" "105849810" "105849810" "subst" "8.69947E-5" "02325" "BRF1_000029" "g.105849810C>T" "" "" "" "PACS2(NM_001100913.3):c.1740C>T (p.P580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939840" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic (dominant)" "" "0000950208" "0" "30" "14" "105683977" "105683977" "subst" "1.22166E-5" "01804" "BRF1_000030" "g.105683977G>A" "" "" "" "BRF1(NM_001242786.1):c.1397C>T (p.(Ala466Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950209" "0" "30" "14" "105715689" "105715689" "subst" "0.00393701" "01804" "BRF1_000031" "g.105715689C>T" "" "" "" "BTBD6(NM_033271.2):c.307-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950210" "0" "50" "14" "105833616" "105833616" "subst" "0" "02325" "BRF1_000032" "g.105833616G>T" "" "" "" "PACS2(NM_001100913.3):c.490G>T (p.V164F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980795" "0" "30" "14" "105677637" "105677637" "subst" "0" "01804" "BRF1_000035" "g.105677637C>A" "" "" "" "BRF1(NM_001519.4):c.1825-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980796" "0" "90" "14" "105693016" "105693016" "dup" "0" "01804" "BRF1_000036" "g.105693016dup" "" "" "" "BRF1(NM_001519.4):c.876dup (p.(Ser293LeufsTer15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980797" "0" "50" "14" "105781379" "105781379" "subst" "0" "01804" "BRF1_000037" "g.105781379G>C" "" "" "" "PACS2(NM_001100913.3):c.119+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980798" "0" "30" "14" "105834855" "105834855" "subst" "0" "01804" "BRF1_000038" "g.105834855A>G" "" "" "" "PACS2(NM_001243127.3):c.516+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980799" "0" "50" "14" "105856311" "105856311" "subst" "4.06098E-6" "02325" "BRF1_000039" "g.105856311T>A" "" "" "" "PACS2(NM_001100913.2):c.2047T>A (p.(Ser683Thr)), PACS2(NM_001100913.3):c.2047T>A (p.S683T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980800" "0" "50" "14" "105858972" "105858972" "subst" "1.26536E-5" "02325" "BRF1_000040" "g.105858972G>A" "" "" "" "PACS2(NM_001100913.3):c.2272G>A (p.E758K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000762" "0" "30" "14" "105692601" "105692601" "subst" "0" "01804" "BRF1_000041" "g.105692601C>G" "" "" "" "BRF1(NM_001242787.1):c.597G>C (p.(Lys199Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000763" "0" "50" "14" "105781260" "105781260" "subst" "0" "01804" "BRF1_000042" "g.105781260C>A" "" "" "" "PACS2(NM_001100913.2):c.5C>A (p.(Ala2Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000764" "0" "50" "14" "105818794" "105818796" "del" "0" "01804" "BRF1_000043" "g.105818794_105818796del" "" "" "" "PACS2(NM_001100913.2):c.287_289delTCT (p.(Phe96del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000765" "0" "30" "14" "105843181" "105843181" "subst" "2.44537E-5" "01804" "BRF1_000044" "g.105843181T>C" "" "" "" "PACS2(NM_001100913.2):c.878T>C (p.(Leu293Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000766" "0" "30" "14" "105843201" "105843201" "subst" "4.07697E-6" "01804" "BRF1_000045" "g.105843201G>A" "" "" "" "PACS2(NM_001100913.2):c.898G>A (p.(Asp300Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000767" "0" "30" "14" "105846105" "105846105" "subst" "0" "01804" "BRF1_000046" "g.105846105G>A" "" "" "" "PACS2(NM_001100913.2):c.989G>A (p.(Ser330Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000768" "0" "30" "14" "105848303" "105848303" "subst" "0" "01804" "BRF1_000047" "g.105848303C>T" "" "" "" "PACS2(NM_001100913.2):c.1321C>T (p.(Arg441Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000769" "0" "30" "14" "105849743" "105849743" "subst" "0" "01804" "BRF1_000048" "g.105849743C>T" "" "" "" "PACS2(NM_001100913.2):c.1673C>T (p.(Ala558Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000770" "0" "50" "14" "105856307" "105856309" "del" "0" "01804" "BRF1_000049" "g.105856307_105856309del" "" "" "" "PACS2(NM_001100913.2):c.2043_2045delAGA (p.(Glu682del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000771" "0" "30" "14" "105856311" "105856311" "subst" "4.06098E-6" "01804" "BRF1_000039" "g.105856311T>A" "" "" "" "PACS2(NM_001100913.2):c.2047T>A (p.(Ser683Thr)), PACS2(NM_001100913.3):c.2047T>A (p.S683T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015118" "0" "50" "14" "105814830" "105814830" "subst" "4.0843E-6" "02325" "BRF1_000050" "g.105814830G>A" "" "" "" "PACS2(NM_001100913.3):c.120G>A (p.R40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015119" "0" "50" "14" "105848871" "105848871" "subst" "0" "02325" "BRF1_000051" "g.105848871C>T" "" "" "" "PACS2(NM_001100913.3):c.1471C>T (p.L491F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039836" "0" "30" "14" "105677490" "105677490" "subst" "8.15834E-6" "01804" "BRF1_000052" "g.105677490G>A" "" "" "" "BRF1(NM_001519.4):c.1965C>T (p.(Cys655=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039837" "0" "30" "14" "105685327" "105685327" "subst" "1.21861E-5" "01804" "BRF1_000053" "g.105685327G>A" "" "" "" "BRF1(NM_001519.4):c.1515+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039838" "0" "50" "14" "105715630" "105715630" "subst" "3.86826E-5" "01804" "BRF1_000054" "g.105715630G>A" "" "" "" "BRF1(NM_001242789.2):c.-165C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039839" "0" "30" "14" "105787273" "105787273" "subst" "0" "01804" "BRF1_000055" "g.105787273G>A" "" "" "" "PACS2(NM_001100913.3):c.119+5899G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039840" "0" "30" "14" "105828498" "105828498" "subst" "0" "01804" "BRF1_000056" "g.105828498G>A" "" "" "" "PACS2(NM_001100913.3):c.424-5052G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039841" "0" "30" "14" "105833719" "105833719" "subst" "8.17494E-6" "01804" "BRF1_000057" "g.105833719G>T" "" "" "" "PACS2(NM_001100913.3):c.586+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039842" "0" "30" "14" "105844896" "105844896" "subst" "0" "01804" "BRF1_000058" "g.105844896G>A" "" "" "" "PACS2(NM_001100913.3):c.960-1180G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039843" "0" "30" "14" "105858064" "105858064" "subst" "2.3037E-5" "01804" "BRF1_000059" "g.105858064C>T" "" "" "" "PACS2(NM_001100913.3):c.2216C>T (p.(Pro739Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047884" "0" "90" "14" "105834449" "105834449" "subst" "0" "00006" "PACS2_000003" "g.105834449G>A" "" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "" "" "De novo" "" "" "0" "" "" "g.105368112G>A" "" "pathogenic (dominant)" "" ## 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 PACS2 ## Count = 79 "{{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}}" "0000272157" "00015588" "30" "-93057" "0" "-93057" "0" "c.-93057G>A" "r.(?)" "p.(=)" "" "0000304904" "00015588" "50" "1197" "0" "1197" "0" "c.1197T>G" "r.(?)" "p.(Asp399Glu)" "" "0000304905" "00015588" "30" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Leu24=)" "" "0000323887" "00015588" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000323888" "00015588" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Val519Met)" "" "0000345234" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000348351" "00015588" "70" "-88245" "0" "-88245" "0" "c.-88245G>T" "r.(?)" "p.(=)" "" "0000369248" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000369249" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369250" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369251" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369252" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369253" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369254" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369255" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369256" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369257" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369258" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369259" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369260" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000369261" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000436547" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000551444" "00015588" "70" "-73634" "0" "-73634" "0" "c.-73634G>A" "r.(?)" "p.(=)" "" "0000551447" "00015588" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Val164Ile)" "" "0000551449" "00015588" "30" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Thr402Met)" "" "0000551451" "00015588" "30" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Ile896Val)" "" "0000614754" "00015588" "50" "223" "0" "223" "0" "c.223C>A" "r.(?)" "p.(Leu75Met)" "" "0000614755" "00015588" "30" "2214" "0" "2214" "0" "c.2214G>C" "r.(?)" "p.(Pro738=)" "" "0000623095" "00015588" "30" "-97264" "0" "-97264" "0" "c.-97264G>C" "r.(?)" "p.(=)" "" "0000623096" "00015588" "30" "-58531" "0" "-58531" "0" "c.-58531C>T" "r.(?)" "p.(=)" "" "0000623097" "00015588" "30" "729" "0" "729" "0" "c.729G>A" "r.(?)" "p.(Thr243=)" "" "0000623098" "00015588" "50" "2221" "0" "2221" "0" "c.2221T>A" "r.(?)" "p.(Ser741Thr)" "" "0000657366" "00015588" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Glu204Lys)" "" "0000665626" "00015588" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Val20Met)" "" "0000673939" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000691602" "00015588" "50" "-86092" "0" "-86092" "0" "c.-86092G>C" "r.(?)" "p.(=)" "" "0000724657" "00015588" "50" "-73558" "0" "-73558" "0" "c.-73558T>G" "r.(?)" "p.(=)" "" "0000724658" "00015588" "50" "-73557" "0" "-73557" "0" "c.-73557C>G" "r.(?)" "p.(=)" "" "0000806284" "00015588" "30" "181" "0" "181" "0" "c.181T>G" "r.(?)" "p.(Ser61Ala)" "" "0000806285" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000853731" "00015588" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Gln116=)" "" "0000863482" "00015588" "70" "-103740" "0" "-103740" "0" "c.-103740del" "r.(?)" "p.(=)" "" "0000863483" "00015588" "50" "-64933" "0" "-64933" "0" "c.-64933G>A" "r.(?)" "p.(=)" "" "0000891668" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000909922" "00015588" "50" "986" "0" "986" "0" "c.986C>G" "r.(?)" "p.(Ser329Trp)" "" "0000914145" "00015588" "30" "802" "-6" "802" "-6" "c.802-6G>A" "r.(=)" "p.(=)" "" "0000914146" "00015588" "30" "2133" "0" "2133" "0" "c.2133C>G" "r.(?)" "p.(Asp711Glu)" "" "0000930268" "00015588" "30" "1740" "0" "1740" "0" "c.1740C>T" "r.(?)" "p.(=)" "" "0000939840" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "6" "0000950208" "00015588" "30" "-97279" "0" "-97279" "0" "c.-97279G>A" "r.(?)" "p.(=)" "" "0000950209" "00015588" "30" "-65567" "0" "-65567" "0" "c.-65567C>T" "r.(?)" "p.(=)" "" "0000950210" "00015588" "50" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Val164Phe)" "" "0000980795" "00015588" "30" "-103619" "0" "-103619" "0" "c.-103619C>A" "r.(?)" "p.(=)" "" "0000980796" "00015588" "90" "-88240" "0" "-88240" "0" "c.-88240dup" "r.(?)" "p.(=)" "" "0000980797" "00015588" "50" "119" "5" "119" "5" "c.119+5G>C" "r.spl?" "p.?" "" "0000980798" "00015588" "30" "720" "0" "720" "0" "c.720A>G" "r.(?)" "p.(=)" "" "0000980799" "00015588" "50" "2047" "0" "2047" "0" "c.2047T>A" "r.(?)" "p.(Ser683Thr)" "" "0000980800" "00015588" "50" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Glu758Lys)" "" "0001000762" "00015588" "30" "-88655" "0" "-88655" "0" "c.-88655C>G" "r.(?)" "p.(=)" "" "0001000763" "00015588" "50" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Asp)" "" "0001000764" "00015588" "50" "287" "0" "289" "0" "c.287_289del" "r.(?)" "p.(Phe96del)" "" "0001000765" "00015588" "30" "878" "0" "878" "0" "c.878T>C" "r.(?)" "p.(Leu293Pro)" "" "0001000766" "00015588" "30" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Asp300Asn)" "" "0001000767" "00015588" "30" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Ser330Asn)" "" "0001000768" "00015588" "30" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Trp)" "" "0001000769" "00015588" "30" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ala558Val)" "" "0001000770" "00015588" "50" "2043" "0" "2045" "0" "c.2043_2045del" "r.(?)" "p.(Glu682del)" "" "0001000771" "00015588" "30" "2047" "0" "2047" "0" "c.2047T>A" "r.(?)" "p.(Ser683Thr)" "" "0001015118" "00015588" "50" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(=)" "" "0001015119" "00015588" "50" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Leu491Phe)" "" "0001039836" "00015588" "30" "-103766" "0" "-103766" "0" "c.-103766G>A" "r.(?)" "p.(=)" "" "0001039837" "00015588" "30" "-95929" "0" "-95929" "0" "c.-95929G>A" "r.(?)" "p.(=)" "" "0001039838" "00015588" "50" "-65626" "0" "-65626" "0" "c.-65626G>A" "r.(?)" "p.(=)" "" "0001039839" "00015588" "30" "119" "5899" "119" "5899" "c.119+5899G>A" "r.(=)" "p.(=)" "" "0001039840" "00015588" "30" "424" "-5052" "424" "-5052" "c.424-5052G>A" "r.(=)" "p.(=)" "" "0001039841" "00015588" "30" "586" "7" "586" "7" "c.586+7G>T" "r.(=)" "p.(=)" "" "0001039842" "00015588" "30" "960" "-1180" "960" "-1180" "c.960-1180G>A" "r.(=)" "p.(=)" "" "0001039843" "00015588" "30" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Pro739Leu)" "" "0001047884" "00015588" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000165530" "0000369248" "0000165531" "0000369249" "0000165532" "0000369250" "0000165533" "0000369251" "0000165534" "0000369252" "0000165535" "0000369253" "0000165536" "0000369254" "0000165537" "0000369255" "0000165538" "0000369256" "0000165539" "0000369257" "0000165540" "0000369258" "0000165541" "0000369259" "0000165542" "0000369260" "0000165543" "0000369261" "0000206900" "0000436547" "0000302392" "0000665626" "0000307321" "0000673939" "0000441898" "0000939840" "0000468167" "0001047884"