### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGT) # 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}}" "PIGT" "phosphatidylinositol glycan anchor biosynthesis, class T" "20" "q12-q13.12" "unknown" "NC_000020.10" "UD_136022265215" "" "http://www.LOVD.nl/PIGT" "" "1" "14938" "51604" "610272" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PIGT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00081" "2018-12-31 00:39:35" "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}}" "00016159" "PIGT" "transcript variant 1" "001" "NM_015937.5" "" "NP_057021.2" "" "" "" "-90" "2156" "1737" "44044707" "44054885" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "03926" "MCAHS3;GPIBD7" "multiple congenital anomalies, hypotonia, seizures syndrome, type 3 (MCAHS-3, glycosylphosphatidylinositol deficiency, type 7 (GPIBD-7))" "AR" "615398" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03927" "PNH2" "hemoglobinuria, nocturnal, paroxysmal, type 2 (PNH-2)" "AD;SMu" "615399" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIGT" "03926" "PIGT" "03927" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00024928" "" "" "" "4" "" "00006" "{PMID:Kvarnung 2013:23636107}" "5-generation family, 4-affecteds (4F), unaffected heterozygous carrier relatives" "" "yes" "Turkey" "" "0" "" "" "Aramaic" "" "00024929" "" "" "" "1" "" "00006" "{PMID:Krawitz 2013:23733340}, {DOI:Krawitz 2013:10.1182/blood-2013-01-481499}" "" "F" "no" "Germany" "" "0" "" "" "" "" "00155218" "" "" "" "1" "" "00081" "{PMID:Nakashima 2014:24906948}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00155219" "" "" "" "2" "" "00081" "{PMID:Lam 2015:25943031}" "" "F" "no" "" "" "0" "" "" "white mother and African American father" "Patient_1" "00155220" "" "" "00155219" "1" "" "00081" "{PMID:Lam 2015:25943031}" "" "M" "no" "" "" "0" "" "" "white mother and African American father" "Patient_2" "00155221" "" "" "" "2" "" "00081" "{PMID:Skauli 2016:27916860}" "" "M" "yes" "" "" "0" "" "" "Somalian" "Patient_1" "00155222" "" "" "00155221" "1" "" "00081" "{PMID:Skauli 2016:27916860}" "" "M" "yes" "" "" "0" "" "" "Somalian" "Patient_2" "00155223" "" "" "" "1" "" "00081" "{PMID:Kohashi 2018:28728837}" "" "M" "no" "" "" "0" "" "" "" "" "00155224" "" "" "" "1" "" "00081" "{PMID:Pagnamenta 2017:28327575}" "" "F" "no" "" "" "0" "" "" "white" "258094" "00155225" "" "" "" "2" "" "00081" "{PMID:Pagnamenta 2017:28327575}" "" "M" "yes" "" "" "0" "" "" "Afghanistani" "270250" "00155226" "" "" "00155225" "1" "" "00081" "{PMID:Pagnamenta 2017:28327575}" "" "M" "yes" "" "" "0" "" "" "Afghanistani" "270306" "00207529" "" "" "" "1" "" "00081" "{PMID:Kvarnung et al., 2018:30221345}" "" "" "" "" "" "0" "" "" "" "Patient 3" "00207530" "" "" "" "1" "" "00081" "{PMID:Yang et al., 2018:29868109}" "Homozygous PIGT variant in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay" "M" "no" "China" ">00y10m" "0" "" "Anti-epileptic medications" "Chinese" "Proband" "00292936" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292937" "" "" "" "66" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304858" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304859" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305912" "" "" "" "1" "" "00006" "{PMID:Marcogliese 2018:30057031}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00024928" "00139" "00024929" "03927" "00207529" "03926" "00207530" "03926" "00292936" "00198" "00292937" "00198" "00304858" "00198" "00304859" "00198" "00305912" "01424" "00305912" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01424, 03926, 03927, 05611 ## Count = 5 "{{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}}" "0000021044" "00139" "00024928" "00006" "Familial, autosomal recessive" "" "see paper, detailed description; incl. distinct facial features, hypotonia, seizures, abnormal skeletal,endocrine and ophthalmologic findings" "" "" "" "" "" "" "" "" "" "" "" "0000021045" "03927" "00024929" "00006" "Isolated (sporadic)" "" "see paper, detailed description" "" "" "" "" "" "" "" "" "" "" "" "0000155307" "03926" "00207529" "00081" "Familial, autosomal recessive" "" "ID, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000155308" "03926" "00207530" "00081" "Familial, autosomal recessive" "" "Multiple malformations, hypotonia, seizure and profound development delay. Dysmorphic features (high forehead, frontal bossing, narrow bitemporal, big eyes with slight orbital depression, esotropia, depressed nasal bridge, long philtrum, high palatine arch, wide and opening mouth, low auricular position). Hypotonia. Lower limb hyperreflexia. Normal ALP level. MRI shows external hydrocephalus, cortical hypoplasia, cerebellar vermis dysplasia." "" "" "" "" "" "" "" "" "" "" "" "0000231759" "05611" "00305912" "00006" "Unknown" "16y" "no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal" "" "" "" "" "" "" "" "" "NDD;VMD2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024923" "00024928" "1" "00006" "00006" "2014-11-21 16:53:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000024924" "00024929" "1" "00006" "00006" "2014-11-21 17:46:21" "" "" "FISH;SEQ;SEQ-NG" "DNA" "" "" "0000156082" "00155218" "1" "00081" "00081" "2018-03-15 20:43:05" "" "" "SEQ-NG" "DNA" "peripheral blood" "WES" "0000156083" "00155219" "1" "00081" "00081" "2018-03-15 21:37:24" "" "" "SEQ-NG" "DNA" "peripheral leukocytes" "WES" "0000156084" "00155220" "1" "00081" "00081" "2018-03-15 21:44:40" "" "" "SEQ-NG" "DNA" "peripheral leukocytes" "WES" "0000156085" "00155221" "1" "00081" "00081" "2018-03-15 21:55:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000156086" "00155222" "1" "00081" "00081" "2018-03-15 21:58:25" "" "" "SEQ-NG" "DNA" "" "WES" "0000156087" "00155223" "1" "00081" "00081" "2018-03-15 22:05:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000156088" "00155224" "1" "00081" "00081" "2018-03-15 22:19:30" "" "" "SEQ-NG" "DNA" "" "WES" "0000156089" "00155225" "1" "00081" "00081" "2018-03-15 22:23:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000156090" "00155226" "1" "00081" "00081" "2018-03-15 22:27:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000208567" "00207529" "1" "00081" "00081" "2018-11-23 19:07:25" "" "" "?" "DNA" "" "" "0000208569" "00207530" "1" "00081" "00081" "2018-11-23 19:12:47" "" "" "PCRq;SEQ;SEQ-NG-I" "DNA" "" "" "0000294104" "00292936" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294105" "00292937" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305987" "00304858" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305988" "00304859" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307042" "00305912" "1" "00006" "00006" "2020-07-05 16:07:27" "00006" "2020-07-06 09:46:49" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000024923" "PIGT" "0000024923" "TUBB1" "0000024924" "PIGT" "0000208567" "PIGT" "0000208569" "PIGT" "0000307042" "BEST1" "0000307042" "IRF2BPL" ## 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 = 82 "{{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}}" "0000047716" "3" "90" "20" "44047988" "44047988" "subst" "0" "00081" "PIGT_000001" "g.44047988A>C" "" "{PMID:Kvarnung 2013:23636107}" "" "" "causality supported by functional experiments with morpholino/zebra fish KO and co-injection rescue of wt/variant mRNA" "Germline" "yes" "rs587777027" "0" "" "" "g.45419348A>C" "" "pathogenic" "" "0000047717" "1" "90" "20" "44053134" "44053134" "subst" "0" "00081" "PIGT_000002" "g.44053134A>G" "" "{PMID:Krawitz 2013:23733340}, {DOI:Krawitz 2013:10.1182/blood-2013-01-481499}" "" "" "variant detected in 1239/1463 reads" "Germline" "" "rs587777028" "0" "" "" "g.45424494A>G" "" "pathogenic" "" "0000047723" "2" "90" "20" "36600000" "44600000" "del" "0" "00006" "PIGT_000003" "g.(36500000_36600000)_(44600000_44700000)del" "" "{PMID:Krawitz 2013:23733340}, {DOI:Krawitz 2013:10.1182/blood-2013-01-481499}" "" "" "8 Mb deletion (FISH 92% granulocyte interphase nuclei)" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000251059" "0" "10" "20" "44048972" "44048972" "subst" "0.0183807" "02326" "PIGT_000009" "g.44048972A>C" "" "" "" "PIGT(NM_015937.6):c.770A>C (p.D257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420332A>C" "" "benign" "" "0000296959" "0" "50" "20" "44052984" "44052984" "subst" "0" "02325" "PIGT_000015" "g.44052984G>C" "" "" "" "PIGT(NM_015937.6):c.1363G>C (p.E455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45424344G>C" "" "VUS" "" "0000300780" "0" "30" "20" "44050127" "44050127" "subst" "0" "02326" "PIGT_000013" "g.44050127G>A" "" "" "" "PIGT(NM_015937.6):c.1138G>A (p.A380T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45421487G>A" "" "likely benign" "" "0000300781" "0" "30" "20" "44053152" "44053152" "subst" "0.0022502" "02326" "PIGT_000016" "g.44053152G>A" "" "" "" "PIGT(NM_015937.6):c.1417G>A (p.A473T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45424512G>A" "" "likely benign" "" "0000300782" "0" "30" "20" "44047493" "44047493" "subst" "0.00612747" "02326" "PIGT_000005" "g.44047493G>T" "" "" "" "PIGT(NM_015937.5):c.367G>T (p.V123L), PIGT(NM_015937.6):c.367G>T (p.V123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45418853G>T" "" "likely benign" "" "0000300783" "0" "10" "20" "44047974" "44047974" "subst" "0.0168194" "02326" "PIGT_000006" "g.44047974G>A" "" "" "" "PIGT(NM_015937.6):c.533G>A (p.R178Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45419334G>A" "" "benign" "" "0000300784" "0" "30" "20" "44048224" "44048224" "subst" "0.00154369" "02326" "PIGT_000007" "g.44048224T>C" "" "" "" "PIGT(NM_015937.5):c.675T>C (p.V225=), PIGT(NM_015937.6):c.675T>C (p.V225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45419584T>C" "" "likely benign" "" "0000300785" "0" "30" "20" "44048958" "44048958" "subst" "9.60118E-5" "02326" "PIGT_000008" "g.44048958G>A" "" "" "" "PIGT(NM_015937.6):c.770-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420318G>A" "" "likely benign" "" "0000300786" "0" "30" "20" "44049269" "44049269" "subst" "0.00110855" "02326" "PIGT_000010" "g.44049269C>T" "" "" "" "PIGT(NM_015937.6):c.969C>T (p.T323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420629C>T" "" "likely benign" "" "0000305607" "0" "30" "20" "44050050" "44050050" "subst" "0.000786619" "01943" "PIGT_000012" "g.44050050C>T" "" "" "" "PIGT(NM_015937.5):c.1061C>T (p.A354V), PIGT(NM_015937.6):c.1061C>T (p.A354V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45421410C>T" "" "likely benign" "" "0000305608" "0" "30" "20" "44044810" "44044810" "subst" "0" "01943" "PIGT_000004" "g.44044810T>C" "" "" "" "PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)), PIGT(NM_015937.5):c.14T>C (p.M5T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45416170T>C" "" "likely benign" "" "0000305609" "0" "30" "20" "44047493" "44047493" "subst" "0.00612747" "01943" "PIGT_000005" "g.44047493G>T" "" "" "" "PIGT(NM_015937.5):c.367G>T (p.V123L), PIGT(NM_015937.6):c.367G>T (p.V123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45418853G>T" "" "likely benign" "" "0000328441" "0" "30" "20" "44050134" "44050134" "subst" "2.43671E-5" "01804" "PIGT_000014" "g.44050134C>T" "" "" "" "PIGT(NM_001184728.2):c.977C>T (p.(Pro326Leu)), PIGT(NM_015937.6):c.1145C>T (p.P382L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45421494C>T" "" "likely benign" "" "0000357943" "21" "70" "20" "44045219" "44045219" "subst" "1.21859E-5" "00081" "PIGT_000018" "g.44045219G>T" "" "{PMID:Nakashima et al. 2014:24906948}" "" "" "" "Germline" "" "" "0" "" "" "g.45416579G>T" "" "likely pathogenic" "" "0000357944" "11" "70" "20" "44052963" "44052963" "subst" "1.63309E-5" "00081" "PIGT_000019" "g.44052963C>T" "" "{PMID:Nakashima et al. 2014:24906948}" "" "" "" "Germline" "" "" "0" "" "" "g.45424323C>T" "" "likely pathogenic" "" "0000357945" "11" "70" "20" "44052963" "44052963" "subst" "1.63309E-5" "00081" "PIGT_000019" "g.44052963C>T" "" "{PMID:Lam et al. 2015:25943031}" "" "" "" "Germline" "" "" "0" "" "" "g.45424323C>T" "" "likely pathogenic" "" "0000357946" "21" "70" "20" "44049218" "44049218" "dup" "0" "00081" "PIGT_000020" "g.44049218dup" "" "{PMID:Lam et al. 2015:25943031}" "" "" "" "Germline" "" "" "0" "" "" "g.45420578dup" "" "likely pathogenic" "" "0000357947" "11" "70" "20" "44052963" "44052963" "subst" "1.63309E-5" "00081" "PIGT_000019" "g.44052963C>T" "" "{PMID:Lam et al. 2015:25943031}" "" "" "" "Germline" "" "" "0" "" "" "g.45424323C>T" "" "likely pathogenic" "" "0000357948" "21" "70" "20" "44049218" "44049218" "dup" "0" "00081" "PIGT_000020" "g.44049218dup" "" "{PMID:Lam et al. 2015:25943031}" "" "" "" "Germline" "" "" "0" "" "" "g.45420578dup" "" "likely pathogenic" "" "0000357949" "3" "70" "20" "44050068" "44050068" "subst" "0" "00081" "PIGT_000021" "g.44050068G>T" "" "{PMID:Skauli et al. 2016:27916860}" "" "" "" "Germline" "" "" "0" "" "" "g.45421428G>T" "" "likely pathogenic" "" "0000357950" "3" "70" "20" "44050068" "44050068" "subst" "0" "00081" "PIGT_000021" "g.44050068G>T" "" "{PMID:Skauli et al. 2016:27916860}" "" "" "" "Germline" "" "" "0" "" "" "g.45421428G>T" "" "likely pathogenic" "" "0000357951" "0" "70" "20" "44045219" "44045219" "subst" "1.21859E-5" "00081" "PIGT_000018" "g.44045219G>T" "" "{PMID:Kohashi et al. 2018:28728837}" "" "" "" "Germline" "" "" "0" "" "" "g.45416579G>T" "" "likely pathogenic" "" "0000357952" "0" "70" "20" "44050085" "44050085" "subst" "4.06345E-6" "00081" "PIGT_000022" "g.44050085G>T" "" "{PMID:Kohashi et al. 2018:28728837}" "" "" "" "Germline" "" "" "0" "" "" "g.45421445G>T" "" "likely pathogenic" "" "0000357953" "21" "70" "20" "44054311" "44054311" "subst" "9.75182E-5" "00081" "PIGT_000023" "g.44054311G>A" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.45425671G>A" "" "likely pathogenic" "" "0000357954" "11" "70" "20" "44054459" "44054459" "dup" "0" "00081" "PIGT_000024" "g.44054459dup" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.45425819dup" "" "likely pathogenic" "" "0000357955" "3" "70" "20" "44048803" "44048803" "subst" "6.57079E-5" "00081" "PIGT_000025" "g.44048803G>C" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.45420163G>C" "" "likely pathogenic" "" "0000357956" "3" "70" "20" "44048803" "44048803" "subst" "6.57079E-5" "00081" "PIGT_000025" "g.44048803G>C" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.45420163G>C" "" "likely pathogenic" "" "0000438450" "0" "90" "20" "44047988" "44047988" "subst" "0" "00081" "PIGT_000001" "g.44047988A>C" "" "" "" "NM_015937.5:c.547A>C, p.Thr183Pro" "CADD score: 26.4" "Germline" "" "" "0" "" "" "g.45419348A>C" "" "pathogenic" "" "0000438451" "0" "90" "20" "44047991" "44047991" "subst" "1.62633E-5" "00081" "PIGT_000026" "g.44047991G>A" "MAF: 0.00001626" "" "" "" "This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL)." "Germline" "" "rs774753616" "0" "" "" "g.45419351G>A" "" "pathogenic" "" "0000438467" "0" "90" "20" "44047991" "44047991" "subst" "1.62633E-5" "00081" "PIGT_000026" "g.44047991G>A" "" "" "" "" "This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL)." "Germline" "" "rs774753616" "0" "" "" "g.45419351G>A" "" "pathogenic" "" "0000439014" "0" "77" "20" "44047933" "44047933" "subst" "5.29027E-5" "00081" "PIGT_000027" "g.44047933A>G" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45419293A>G" "" "likely pathogenic" "" "0000439015" "0" "77" "20" "44053207" "44053207" "subst" "4.06204E-6" "00081" "PIGT_000028" "g.44053207T>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45424567T>A" "" "likely pathogenic" "" "0000439016" "0" "77" "20" "44053221" "44053221" "subst" "0" "00081" "PIGT_000029" "g.44053221T>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45424581T>A" "" "likely pathogenic" "" "0000569782" "0" "30" "20" "44044810" "44044810" "subst" "0" "01804" "PIGT_000004" "g.44044810T>C" "" "" "" "PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)), PIGT(NM_015937.5):c.14T>C (p.M5T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45416170T>C" "" "likely benign" "" "0000569785" "0" "70" "20" "44048208" "44048208" "subst" "0" "02327" "PIGT_000032" "g.44048208T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45419568T>C" "" "likely pathogenic" "" "0000569786" "0" "30" "20" "44048216" "44048216" "subst" "0.000219357" "01804" "PIGT_000033" "g.44048216C>T" "" "" "" "PIGT(NM_001184728.2):c.499C>T (p.(Arg167Cys)), PIGT(NM_015937.6):c.667C>T (p.R223C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45419576C>T" "" "likely benign" "" "0000569787" "0" "30" "20" "44048224" "44048224" "subst" "0.00154369" "01943" "PIGT_000007" "g.44048224T>C" "" "" "" "PIGT(NM_015937.5):c.675T>C (p.V225=), PIGT(NM_015937.6):c.675T>C (p.V225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45419584T>C" "" "likely benign" "" "0000569788" "0" "30" "20" "44048783" "44048783" "subst" "5.80667E-5" "01943" "PIGT_000034" "g.44048783G>A" "" "" "" "PIGT(NM_015937.5):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45420143G>A" "" "likely benign" "" "0000569790" "0" "50" "20" "44049008" "44049008" "subst" "0.000526067" "01943" "PIGT_000035" "g.44049008C>T" "" "" "" "PIGT(NM_015937.5):c.806C>T (p.T269M), PIGT(NM_015937.6):c.806C>T (p.T269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45420368C>T" "" "VUS" "" "0000569792" "0" "30" "20" "44049920" "44049920" "dup" "0" "02326" "PIGT_000037" "g.44049920dup" "" "" "" "PIGT(NM_015937.6):c.1034-103dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45421280dup" "" "likely benign" "" "0000569793" "0" "30" "20" "44050050" "44050050" "subst" "0.000786619" "02326" "PIGT_000012" "g.44050050C>T" "" "" "" "PIGT(NM_015937.5):c.1061C>T (p.A354V), PIGT(NM_015937.6):c.1061C>T (p.A354V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45421410C>T" "" "likely benign" "" "0000569794" "0" "30" "20" "44050056" "44050056" "subst" "0.00177991" "02326" "PIGT_000038" "g.44050056G>A" "" "" "" "PIGT(NM_015937.6):c.1067G>A (p.R356Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45421416G>A" "" "likely benign" "" "0000569796" "0" "30" "20" "44054436" "44054436" "subst" "0.000378911" "02326" "PIGT_000040" "g.44054436C>T" "" "" "" "PIGT(NM_015937.6):c.1707C>T (p.I569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45425796C>T" "" "likely benign" "" "0000624163" "0" "30" "20" "44053151" "44053151" "subst" "1.21849E-5" "01943" "PIGT_000041" "g.44053151C>T" "" "" "" "PIGT(NM_015937.5):c.1416C>T (p.S472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45424511C>T" "" "likely benign" "" "0000650793" "1" "10" "20" "44047974" "44047974" "subst" "0.0168194" "03575" "PIGT_000006" "g.44047974G>A" "29/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous; {DB:CLININrs80158178}" "Germline" "" "rs80158178" "0" "" "" "g.45419334G>A" "" "benign" "" "0000650794" "1" "10" "20" "44048972" "44048972" "subst" "0.0183807" "03575" "PIGT_000009" "g.44048972A>C" "66/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "66 heterozygous; {DB:CLININrs61753669}" "Germline" "" "rs61753669" "0" "" "" "g.45420332A>C" "" "benign" "" "0000669675" "3" "10" "20" "44047974" "44047974" "subst" "0.0168194" "03575" "PIGT_000006" "g.44047974G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs80158178}" "Germline" "" "rs80158178" "0" "" "" "g.45419334G>A" "" "benign" "" "0000669676" "3" "10" "20" "44048972" "44048972" "subst" "0.0183807" "03575" "PIGT_000009" "g.44048972A>C" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61753669}" "Germline" "" "rs61753669" "0" "" "" "g.45420332A>C" "" "benign" "" "0000673646" "0" "50" "20" "44050154" "44050154" "subst" "4.06114E-6" "00006" "PIGT_000042" "g.44050154G>A" "" "{PMID:Marcogliese 2018:30057031}" "" "" "" "Germline" "" "" "0" "" "" "g.45421514G>A" "" "VUS" "" "0000681620" "0" "50" "20" "44050119" "44050119" "subst" "7.71617E-5" "01943" "PIGT_000043" "g.44050119C>T" "" "" "" "PIGT(NM_015937.5):c.1130C>T (p.P377L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727697" "0" "50" "20" "44045246" "44045246" "subst" "1.62488E-5" "02325" "PIGT_000044" "g.44045246T>A" "" "" "" "PIGT(NM_015937.6):c.277T>A (p.F93I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727698" "0" "50" "20" "44048986" "44048986" "subst" "4.50968E-5" "02325" "PIGT_000045" "g.44048986C>T" "" "" "" "PIGT(NM_015937.6):c.784C>T (p.R262W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727699" "0" "90" "20" "44049217" "44049229" "del" "0" "02329" "PIGT_000036" "g.44049217_44049229del" "" "" "" "PIGT(NM_015937.6):c.917_929delACGTCATCCTAGG (p.D306Afs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727700" "0" "50" "20" "44050134" "44050134" "subst" "2.43671E-5" "02325" "PIGT_000014" "g.44050134C>T" "" "" "" "PIGT(NM_001184728.2):c.977C>T (p.(Pro326Leu)), PIGT(NM_015937.6):c.1145C>T (p.P382L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727701" "0" "50" "20" "44054363" "44054363" "subst" "2.43912E-5" "02325" "PIGT_000046" "g.44054363A>G" "" "" "" "PIGT(NM_015937.6):c.1634A>G (p.N545S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809255" "0" "90" "20" "44048986" "44048986" "dup" "0" "02325" "PIGT_000047" "g.44048986dup" "" "" "" "PIGT(NM_015937.6):c.784dupC (p.R262Pfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809256" "0" "30" "20" "44054259" "44054259" "subst" "8.15175E-6" "01943" "PIGT_000048" "g.44054259G>A" "" "" "" "PIGT(NM_015937.5):c.1530G>A (p.T510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866510" "0" "50" "20" "44048852" "44048852" "subst" "0" "02325" "PIGT_000049" "g.44048852A>G" "" "" "" "PIGT(NM_015937.6):c.758A>G (p.Q253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866511" "0" "30" "20" "44054421" "44054421" "subst" "2.03338E-5" "01943" "PIGT_000050" "g.44054421G>T" "" "" "" "PIGT(NM_015937.5):c.1692G>T (p.R564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895344" "0" "50" "20" "44050133" "44050133" "subst" "4.06118E-6" "02325" "PIGT_000051" "g.44050133C>G" "" "" "" "PIGT(NM_015937.6):c.1144C>G (p.P382A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915377" "0" "10" "20" "44048071" "44048071" "dup" "0" "02325" "PIGT_000052" "g.44048071dup" "" "" "" "PIGT(NM_015937.6):c.594+36dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915378" "0" "50" "20" "44052964" "44052964" "subst" "0.000102055" "02325" "PIGT_000053" "g.44052964G>A" "" "" "" "PIGT(NM_015937.6):c.1343G>A (p.R448Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915379" "0" "10" "20" "44052992" "44052992" "subst" "0.424265" "02325" "PIGT_000054" "g.44052992G>A" "" "" "" "PIGT(NM_015937.6):c.1371G>A (p.T457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915380" "0" "10" "20" "44054349" "44054349" "subst" "0.737975" "02325" "PIGT_000055" "g.44054349T>C" "" "" "" "PIGT(NM_015937.6):c.1620T>C (p.Y540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927012" "0" "50" "20" "44048216" "44048216" "subst" "0.000219357" "02325" "PIGT_000033" "g.44048216C>T" "" "" "" "PIGT(NM_001184728.2):c.499C>T (p.(Arg167Cys)), PIGT(NM_015937.6):c.667C>T (p.R223C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970160" "0" "50" "20" "44054308" "44054308" "subst" "8.53187E-5" "02325" "PIGT_000056" "g.44054308A>C" "" "" "" "PIGT(NM_015937.6):c.1579A>C (p.N527H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970161" "0" "50" "20" "44054437" "44054437" "subst" "1.62993E-5" "02325" "PIGT_000057" "g.44054437C>T" "" "" "" "PIGT(NM_015937.6):c.1708C>T (p.R570W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983811" "0" "50" "20" "44047484" "44047484" "subst" "0" "01804" "PIGT_000058" "g.44047484C>G" "" "" "" "PIGT(NM_015937.6):c.366-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983812" "0" "30" "20" "44047932" "44047932" "subst" "1.22101E-5" "01804" "PIGT_000059" "g.44047932C>T" "" "" "" "PIGT(NM_015937.6):c.494-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983813" "0" "90" "20" "44049288" "44049288" "subst" "2.84269E-5" "01804" "PIGT_000060" "g.44049288C>T" "" "" "" "PIGT(NM_015937.6):c.988C>T (p.(Arg330Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983814" "0" "50" "20" "44054282" "44054282" "subst" "0.00026418" "01804" "PIGT_000061" "g.44054282C>T" "" "" "" "PIGT(NM_015937.6):c.1553C>T (p.(Pro518Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005411" "0" "30" "20" "44045325" "44045325" "subst" "2.8662E-5" "01804" "PIGT_000062" "g.44045325C>T" "" "" "" "PIGT(NM_015937.5):c.356C>T (p.(Thr119Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005412" "0" "50" "20" "44049008" "44049008" "subst" "0.000526067" "02325" "PIGT_000035" "g.44049008C>T" "" "" "" "PIGT(NM_015937.5):c.806C>T (p.T269M), PIGT(NM_015937.6):c.806C>T (p.T269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005413" "0" "30" "20" "44049225" "44049225" "subst" "2.43639E-5" "01804" "PIGT_000063" "g.44049225C>G" "" "" "" "PIGT(NM_015937.5):c.925C>G (p.(Leu309Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015863" "0" "30" "20" "44047932" "44047932" "subst" "1.22101E-5" "02325" "PIGT_000059" "g.44047932C>T" "" "" "" "PIGT(NM_015937.6):c.494-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043359" "0" "70" "20" "44048036" "44048036" "subst" "8.15089E-6" "01804" "PIGT_000064" "g.44048036G>A" "" "" "" "PIGT(NM_015937.6):c.594+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043360" "0" "50" "20" "44048145" "44048145" "subst" "0" "01804" "PIGT_000065" "g.44048145C>T" "" "" "" "PIGT(NM_015937.6):c.596C>T (p.(Ala199Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043361" "0" "50" "20" "44050047" "44050047" "subst" "1.2228E-5" "01804" "PIGT_000066" "g.44050047A>G" "" "" "" "PIGT(NM_015937.6):c.1058A>G (p.(His353Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043362" "0" "70" "20" "44054459" "44054459" "del" "0" "01804" "PIGT_000067" "g.44054459del" "" "" "" "PIGT(NM_015937.6):c.1730del (p.(Pro577Hisfs*67))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 PIGT ## Count = 82 "{{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}}" "0000047716" "00016159" "90" "547" "0" "547" "0" "c.547A>C" "r.(?)" "p.(Thr183Pro)" "4" "0000047717" "00016159" "90" "1401" "-2" "1401" "-2" "c.1401-2A>G" "r.1401_1484del" "p.Ser467_Leu495delinsArg" "10i" "0000047723" "00016159" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000251059" "00016159" "10" "770" "0" "770" "0" "c.770A>C" "r.(?)" "p.(Asp257Ala)" "" "0000296959" "00016159" "50" "1363" "0" "1363" "0" "c.1363G>C" "r.(?)" "p.(Glu455Gln)" "" "0000300780" "00016159" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000300781" "00016159" "30" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Ala473Thr)" "" "0000300782" "00016159" "30" "367" "0" "367" "0" "c.367G>T" "r.(?)" "p.(Val123Leu)" "" "0000300783" "00016159" "10" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Gln)" "" "0000300784" "00016159" "30" "675" "0" "675" "0" "c.675T>C" "r.(?)" "p.(Val225=)" "" "0000300785" "00016159" "30" "770" "-14" "770" "-14" "c.770-14G>A" "r.(=)" "p.(=)" "" "0000300786" "00016159" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Thr323=)" "" "0000305607" "00016159" "30" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ala354Val)" "" "0000305608" "00016159" "30" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Met5Thr)" "" "0000305609" "00016159" "30" "367" "0" "367" "0" "c.367G>T" "r.(?)" "p.(Val123Leu)" "" "0000328441" "00016159" "30" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "" "0000357943" "00016159" "70" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Glu84*)" "" "0000357944" "00016159" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Trp)" "" "0000357945" "00016159" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Trp)" "" "0000357946" "00016159" "70" "918" "0" "918" "0" "c.918dup" "r.(?)" "p.(Val307Argfs*13)" "" "0000357947" "00016159" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Trp)" "" "0000357948" "00016159" "70" "918" "0" "918" "0" "c.918dup" "r.(?)" "p.(Val307Argfs*13)" "" "0000357949" "00016159" "70" "1079" "0" "1079" "0" "c.1079G>T" "r.(?)" "p.(Gly360Val)" "" "0000357950" "00016159" "70" "1079" "0" "1079" "0" "c.1079G>T" "r.(?)" "p.(Gly360Val)" "" "0000357951" "00016159" "70" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Glu84*)" "" "0000357952" "00016159" "70" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Gly366Trp)" "" "0000357953" "00016159" "70" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Val528Met)" "" "0000357954" "00016159" "70" "1730" "0" "1730" "0" "c.1730dup" "r.(?)" "p.(Leu578Thrfs*35)" "" "0000357955" "00016159" "70" "709" "0" "709" "0" "c.709G>C" "r.(?)" "p.(Glu237Gln)" "" "0000357956" "00016159" "70" "709" "0" "709" "0" "c.709G>C" "r.(?)" "p.(Glu237Gln)" "" "0000438450" "00016159" "90" "547" "0" "547" "0" "c.547A>C" "r.(?)" "p.(Thr183Pro)" "" "0000438451" "00016159" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "4" "0000438467" "00016159" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "4" "0000439014" "00016159" "77" "494" "-2" "494" "-2" "c.494-2A>G" "r.spl?" "p.?" "" "0000439015" "00016159" "77" "1472" "0" "1472" "0" "c.1472T>A" "r.(?)" "p.(Leu491His)" "" "0000439016" "00016159" "77" "1484" "2" "1484" "2" "c.1484+2T>A" "r.spl?" "p.?" "" "0000569782" "00016159" "30" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Met5Thr)" "" "0000569785" "00016159" "70" "659" "0" "659" "0" "c.659T>C" "r.(?)" "p.(Val220Ala)" "" "0000569786" "00016159" "30" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Cys)" "" "0000569787" "00016159" "30" "675" "0" "675" "0" "c.675T>C" "r.(?)" "p.(Val225=)" "" "0000569788" "00016159" "30" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000569790" "00016159" "50" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "" "0000569792" "00016159" "30" "1034" "-103" "1034" "-103" "c.1034-103dup" "r.(=)" "p.(=)" "" "0000569793" "00016159" "30" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ala354Val)" "" "0000569794" "00016159" "30" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356Gln)" "" "0000569796" "00016159" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Ile569=)" "" "0000624163" "00016159" "30" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Ser472=)" "" "0000650793" "00016159" "10" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Gln)" "" "0000650794" "00016159" "10" "770" "0" "770" "0" "c.770A>C" "r.(?)" "p.(Asp257Ala)" "" "0000669675" "00016159" "10" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Gln)" "" "0000669676" "00016159" "10" "770" "0" "770" "0" "c.770A>C" "r.(?)" "p.(Asp257Ala)" "" "0000673646" "00016159" "50" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Val389Ile)" "" "0000681620" "00016159" "50" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Pro377Leu)" "" "0000727697" "00016159" "50" "277" "0" "277" "0" "c.277T>A" "r.(?)" "p.(Phe93Ile)" "" "0000727698" "00016159" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Trp)" "" "0000727699" "00016159" "90" "917" "0" "929" "0" "c.917_929del" "r.(?)" "p.(Asp306AlafsTer16)" "" "0000727700" "00016159" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "" "0000727701" "00016159" "50" "1634" "0" "1634" "0" "c.1634A>G" "r.(?)" "p.(Asn545Ser)" "" "0000809255" "00016159" "90" "784" "0" "784" "0" "c.784dup" "r.(?)" "p.(Arg262Profs*58)" "" "0000809256" "00016159" "30" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Thr510=)" "" "0000866510" "00016159" "50" "758" "0" "758" "0" "c.758A>G" "r.(?)" "p.(Gln253Arg)" "" "0000866511" "00016159" "30" "1692" "0" "1692" "0" "c.1692G>T" "r.(?)" "p.(Arg564=)" "" "0000895344" "00016159" "50" "1144" "0" "1144" "0" "c.1144C>G" "r.(?)" "p.(Pro382Ala)" "" "0000915377" "00016159" "10" "594" "36" "594" "36" "c.594+36dup" "r.(=)" "p.(=)" "" "0000915378" "00016159" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0000915379" "00016159" "10" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(Thr457=)" "" "0000915380" "00016159" "10" "1620" "0" "1620" "0" "c.1620T>C" "r.(?)" "p.(Tyr540=)" "" "0000927012" "00016159" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Cys)" "" "0000970160" "00016159" "50" "1579" "0" "1579" "0" "c.1579A>C" "r.(?)" "p.(Asn527His)" "" "0000970161" "00016159" "50" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "" "0000983811" "00016159" "50" "366" "-8" "366" "-8" "c.366-8C>G" "r.(=)" "p.(=)" "" "0000983812" "00016159" "30" "494" "-3" "494" "-3" "c.494-3C>T" "r.spl?" "p.?" "" "0000983813" "00016159" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330*)" "" "0000983814" "00016159" "50" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.(Pro518Leu)" "" "0001005411" "00016159" "30" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" "" "0001005412" "00016159" "50" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "" "0001005413" "00016159" "30" "925" "0" "925" "0" "c.925C>G" "r.(?)" "p.(Leu309Val)" "" "0001015863" "00016159" "30" "494" "-3" "494" "-3" "c.494-3C>T" "r.spl?" "p.?" "" "0001043359" "00016159" "70" "594" "1" "594" "1" "c.594+1G>A" "r.spl?" "p.?" "" "0001043360" "00016159" "50" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "" "0001043361" "00016159" "50" "1058" "0" "1058" "0" "c.1058A>G" "r.(?)" "p.(His353Arg)" "" "0001043362" "00016159" "70" "1730" "0" "1730" "0" "c.1730del" "r.(?)" "p.(Pro577Hisfs*67)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000024923" "0000047716" "0000024924" "0000047717" "0000024924" "0000047723" "0000156082" "0000357943" "0000156082" "0000357944" "0000156083" "0000357945" "0000156083" "0000357946" "0000156084" "0000357947" "0000156084" "0000357948" "0000156085" "0000357949" "0000156086" "0000357950" "0000156087" "0000357951" "0000156087" "0000357952" "0000156088" "0000357953" "0000156088" "0000357954" "0000156089" "0000357955" "0000156090" "0000357956" "0000208567" "0000438450" "0000208569" "0000438451" "0000208569" "0000438467" "0000294104" "0000650793" "0000294105" "0000650794" "0000305987" "0000669675" "0000305988" "0000669676" "0000307042" "0000673646"