### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRF1) # 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}}" "PRF1" "perforin 1 (pore forming protein)" "10" "q22" "unknown" "LRG_94" "UD_132118681277" "" "https://www.LOVD.nl/PRF1" "" "1" "9360" "5551" "170280" "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/PRF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-15 16:52:17" "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}}" "00016802" "PRF1" "transcript variant 1" "001" "NM_005041.4" "" "NP_005032.2" "" "" "" "-135" "2373" "1668" "72362531" "72357104" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02459" "FHL2" "lymphohistiocytosis, hemophagocytic, familial, type 2 (FHL-2)" "AR" "603553" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02530" "lymphoma" "lymphoma, non-Hodgkin, familial" "" "605027" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-11-25 11:35:32" "02823" "anemia" "anemia, aplastic, incl. susceptibility to" "" "609135" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-02-28 09:08:20" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PRF1" "02459" "PRF1" "02530" "PRF1" "02823" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00174856" "" "" "" "1" "" "02549" "van Kuilenburg, submitted" "" "M" "no" "Netherlands" "00y02m" "0" "" "" "" "Patient" "00274140" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat2" "00290094" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290095" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290096" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290097" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290098" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290099" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306230" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "137" "00334847" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334926" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00433093" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "" "" "0" "" "" "" "Pat69,1" "00443718" "" "" "" "1" "" "04599" "" "" "F" "" "Mexico" "" "" "" "" "Mexican" "MXCCR0307" "00443719" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "MXCCR0804_S21" "00466508" "" "" "" "1" "" "00006" "{PMID:Fevga 2022:36115200}, {DOI:Fevga 2022:10.1016/j.parkreldis.2022.08.031}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00174856" "00198" "00174856" "02459" "00274140" "00198" "00290094" "00198" "00290095" "00198" "00290096" "00198" "00290097" "00198" "00290098" "00198" "00290099" "00198" "00306230" "02459" "00334847" "05793" "00334926" "05793" "00433093" "05292" "00443718" "05489" "00443719" "05489" "00466508" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 02459, 02530, 02823, 05292, 05489, 05793 ## Count = 10 "{{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}}" "0000142664" "02459" "00174856" "02549" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FHL-2" "" "" "0000142665" "00198" "00174856" "02549" "Unknown" "" "fever, hepatosplenomegaly, persistent lactate acidosis, severely disturbed liver enzymes and ultimately multi-organ failure" "" "" "" "" "" "" "" "" "" "" "" "0000209085" "00198" "00274140" "00006" "Familial, autosomal recessive" "" "deceased; neonatal onset; mitochondrial disease criteria score 4; muscle biopsy from autopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000232078" "02459" "00306230" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253244" "05793" "00334847" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253277" "05793" "00334926" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000323619" "05292" "00433093" "00006" "Familial, autosomal recessive" "5m" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000333000" "05489" "00443718" "04599" "Unknown" "49" "" "" "" "" "" "" "" "" "" "" "" "" "0000333001" "05489" "00443719" "04599" "Unknown" "54" "" "" "" "" "" "" "" "" "" "" "" "" "0000351871" "00108" "00466508" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., prominent segmental dystonia, proximal weakness, facial dysmorphisms; sensory neuropathy; achexia; cleft palate; hypothyroidism; left radioulnar synostosis; seizures; intellectual disability (IQ55); hypothyroidism" "" "" "" "" "" "" "" "" "MPXPS" "segmental dystonia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000175747" "00174856" "1" "02549" "02549" "2018-08-13 14:12:19" "" "" "SEQ" "DNA" "" "" "0000275295" "00274140" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291262" "00290094" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291263" "00290095" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291264" "00290096" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291265" "00290097" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291266" "00290098" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291267" "00290099" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307363" "00306230" "1" "03695" "03695" "2020-07-11 11:06:33" "" "" "SEQ-NG" "DNA" "" "" "0000336076" "00334847" "1" "04011" "04011" "2021-03-02 02:56:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336156" "00334926" "1" "04011" "04011" "2021-03-02 13:36:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000434524" "00433093" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000445211" "00443718" "1" "04599" "04599" "2023-12-01 06:18:28" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000445212" "00443719" "1" "04599" "04599" "2023-12-01 06:24:46" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000468171" "00466508" "1" "00006" "00006" "2025-09-09 10:50:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000175747" "PRF1" "0000175747" "SLC28A1" "0000275295" "PRF1" "0000307363" "PRF1" "0000445211" "PRF1" "0000445212" "PRF1" ## 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 = 97 "{{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}}" "0000251475" "0" "10" "10" "72357635" "72357635" "subst" "0" "02326" "PRF1_000001" "g.72357635A>G" "" "" "" "PRF1(NM_005041.5):c.*174T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70597879A>G" "" "benign" "" "0000297328" "0" "10" "10" "72358577" "72358577" "subst" "0.6362" "02325" "PRF1_000004" "g.72358577G>A" "" "" "" "PRF1(NM_001083116.1):c.900C>T (p.H300=), PRF1(NM_001083116.3):c.900C>T (p.H300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598821G>A" "" "benign" "" "0000301172" "0" "50" "10" "72358006" "72358006" "subst" "8.12137E-6" "02326" "PRF1_000002" "g.72358006C>T" "" "" "" "PRF1(NM_001083116.1):c.1471G>A (p.D491N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598250C>T" "" "VUS" "" "0000301173" "0" "50" "10" "72360399" "72360399" "subst" "0" "02326" "PRF1_000013" "g.72360399C>T" "" "" "" "PRF1(NM_001083116.1):c.260G>A (p.R87H), PRF1(NM_001083116.3):c.260G>A (p.R87H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600643C>T" "" "VUS" "" "0000301174" "0" "10" "10" "72360387" "72360387" "subst" "0.0294425" "02326" "PRF1_000012" "g.72360387G>A" "" "" "" "PRF1(NM_001083116.1):c.272C>T (p.(Ala91Val)), PRF1(NM_001083116.3):c.272C>T (p.A91V), PRF1(NM_005041.5):c.272C>T (p.A91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600631G>A" "" "benign" "" "0000301175" "0" "30" "10" "72360291" "72360291" "subst" "0.000529346" "02326" "PRF1_000011" "g.72360291C>T" "" "" "" "PRF1(NM_001083116.1):c.368G>A (p.R123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600535C>T" "" "likely benign" "" "0000301176" "0" "50" "10" "72360214" "72360214" "subst" "0.000142142" "02326" "PRF1_000010" "g.72360214C>T" "" "" "" "PRF1(NM_001083116.1):c.445G>A (p.G149S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600458C>T" "" "VUS" "" "0000301177" "0" "30" "10" "72360140" "72360140" "subst" "0.000650459" "02326" "PRF1_000009" "g.72360140C>T" "" "" "" "PRF1(NM_001083116.1):c.519G>A (p.T173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600384C>T" "" "likely benign" "" "0000301178" "0" "50" "10" "72358811" "72358811" "subst" "3.68258E-5" "02326" "PRF1_000007" "g.72358811G>T" "" "" "" "PRF1(NM_001083116.1):c.666C>A (p.H222Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70599055G>T" "" "VUS" "" "0000301179" "0" "10" "10" "72358722" "72358722" "subst" "0.00499155" "02326" "PRF1_000006" "g.72358722T>C" "" "" "" "PRF1(NM_001083116.1):c.755A>G (p.N252S), PRF1(NM_005041.5):c.755A>G (p.N252S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598966T>C" "" "benign" "" "0000301180" "0" "10" "10" "72358655" "72358655" "subst" "0.16446" "02326" "PRF1_000005" "g.72358655G>A" "" "" "" "PRF1(NM_001083116.1):c.822C>T (p.A274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598899G>A" "" "benign" "" "0000301181" "0" "10" "10" "72358577" "72358577" "subst" "0.6362" "02326" "PRF1_000004" "g.72358577G>A" "" "" "" "PRF1(NM_001083116.1):c.900C>T (p.H300=), PRF1(NM_001083116.3):c.900C>T (p.H300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598821G>A" "" "benign" "" "0000306339" "0" "30" "10" "72360649" "72360649" "subst" "0.00090178" "01943" "PRF1_000014" "g.72360649G>A" "" "" "" "PRF1(NM_001083116.1):c.10C>T (p.R4C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600893G>A" "" "likely benign" "" "0000306340" "0" "30" "10" "72358265" "72358265" "subst" "8.21591E-6" "01943" "PRF1_000003" "g.72358265G>A" "" "" "" "PRF1(NM_001083116.1):c.1212C>T (p.T404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598509G>A" "" "likely benign" "" "0000306341" "0" "30" "10" "72360131" "72360131" "subst" "0.00107388" "01943" "PRF1_000008" "g.72360131G>A" "" "" "" "PRF1(NM_001083116.1):c.528C>T (p.C176=), PRF1(NM_001083116.3):c.528C>T (p.C176=), PRF1(NM_005041.5):c.528C>T (p.C176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70600375G>A" "" "likely benign" "" "0000342849" "0" "50" "10" "72358248" "72358248" "subst" "0" "02327" "PRF1_000015" "g.72358248C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598492C>G" "" "VUS" "" "0000349786" "0" "90" "10" "72358355" "72358355" "subst" "1.24506E-5" "02327" "PRF1_000016" "g.72358355C>T" "" "" "" "PRF1(NM_001083116.1):c.1122G>A (p.W374*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70598599C>T" "" "pathogenic" "" "0000398603" "0" "90" "10" "72360609" "72360609" "del" "0.000223349" "02549" "PRF1_000018" "g.72360609del" "" "van Kuilenburg submitted" "" "50delT" "" "Germline" "yes" "rs147035858" "0" "" "" "g.70600853del" "" "pathogenic" "" "0000398604" "0" "90" "10" "72358633" "72358635" "del" "0" "02549" "PRF1_000017" "g.72358633_72358635del" "" "van Kuilenburg submitted" "" "853_855delAAG" "" "Germline" "yes" "rs745902829" "0" "" "" "g.70598877_70598879del" "" "pathogenic" "" "0000540580" "0" "10" "10" "72357857" "72357857" "subst" "0.00188475" "01943" "PRF1_000020" "g.72357857T>C" "" "" "" "PRF1(NM_001083116.1):c.1620A>G (p.Q540=), PRF1(NM_005041.5):c.1620A>G (p.Q540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598101T>C" "" "benign" "" "0000540581" "0" "30" "10" "72358007" "72358007" "subst" "4.87306E-5" "01943" "PRF1_000021" "g.72358007G>A" "" "" "" "PRF1(NM_001083116.1):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598251G>A" "" "likely benign" "" "0000540582" "0" "50" "10" "72358104" "72358104" "subst" "0" "01943" "PRF1_000022" "g.72358104T>G" "" "" "" "PRF1(NM_001083116.1):c.1373A>C (p.N458T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598348T>G" "" "VUS" "" "0000540583" "0" "50" "10" "72358120" "72358120" "subst" "0.0012481" "01943" "PRF1_000023" "g.72358120C>T" "" "" "" "PRF1(NM_001083116.1):c.1357G>A (p.V453M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598364C>T" "" "VUS" "" "0000540584" "0" "90" "10" "72358128" "72358128" "subst" "2.03283E-5" "01943" "PRF1_000024" "g.72358128G>A" "" "" "" "PRF1(NM_001083116.1):c.1349C>T (p.T450M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598372G>A" "" "pathogenic" "" "0000540585" "0" "90" "10" "72358355" "72358355" "subst" "1.24506E-5" "01943" "PRF1_000016" "g.72358355C>T" "" "" "" "PRF1(NM_001083116.1):c.1122G>A (p.W374*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598599C>T" "" "pathogenic" "" "0000540586" "0" "70" "10" "72358459" "72358459" "subst" "8.13603E-6" "02327" "PRF1_000025" "g.72358459C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598703C>T" "" "likely pathogenic" "" "0000540587" "0" "30" "10" "72358532" "72358532" "subst" "4.87345E-5" "01943" "PRF1_000026" "g.72358532C>T" "" "" "" "PRF1(NM_001083116.1):c.945G>A (p.L315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598776C>T" "" "likely benign" "" "0000540588" "0" "10" "10" "72358577" "72358577" "subst" "0.6362" "02327" "PRF1_000004" "g.72358577G>A" "" "" "" "PRF1(NM_001083116.1):c.900C>T (p.H300=), PRF1(NM_001083116.3):c.900C>T (p.H300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598821G>A" "" "benign" "" "0000540589" "0" "30" "10" "72358587" "72358587" "subst" "0" "01943" "PRF1_000027" "g.72358587C>G" "" "" "" "PRF1(NM_001083116.1):c.890G>C (p.R297P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598831C>G" "" "likely benign" "" "0000540590" "0" "90" "10" "72358633" "72358635" "del" "0" "02327" "PRF1_000017" "g.72358633_72358635del" "" "" "" "PRF1(NM_001083116.1):c.853_855delAAG (p.K285del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598877_70598879del" "" "pathogenic" "" "0000540591" "0" "50" "10" "72358641" "72358641" "subst" "2.03077E-5" "01943" "PRF1_000028" "g.72358641C>T" "" "" "" "PRF1(NM_001083116.1):c.836G>A (p.C279Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598885C>T" "" "VUS" "" "0000540592" "0" "50" "10" "72358666" "72358668" "del" "0" "01943" "PRF1_000029" "g.72358666_72358668del" "" "" "" "PRF1(NM_001083116.1):c.812_814delGCA (p.S271del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598910_70598912del" "" "VUS" "" "0000540593" "0" "30" "10" "72358722" "72358722" "subst" "0.00499155" "01943" "PRF1_000006" "g.72358722T>C" "" "" "" "PRF1(NM_001083116.1):c.755A>G (p.N252S), PRF1(NM_005041.5):c.755A>G (p.N252S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598966T>C" "" "likely benign" "" "0000540594" "0" "70" "10" "72358804" "72358804" "subst" "1.22727E-5" "02327" "PRF1_000030" "g.72358804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70599048G>A" "" "likely pathogenic" "" "0000540595" "0" "30" "10" "72360131" "72360131" "subst" "0.00107388" "02326" "PRF1_000008" "g.72360131G>A" "" "" "" "PRF1(NM_001083116.1):c.528C>T (p.C176=), PRF1(NM_001083116.3):c.528C>T (p.C176=), PRF1(NM_005041.5):c.528C>T (p.C176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600375G>A" "" "likely benign" "" "0000540596" "0" "30" "10" "72360170" "72360170" "subst" "4.46777E-5" "01943" "PRF1_000031" "g.72360170G>A" "" "" "" "PRF1(NM_001083116.1):c.489C>T (p.H163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600414G>A" "" "likely benign" "" "0000540597" "0" "10" "10" "72360215" "72360215" "subst" "0.000990919" "01943" "PRF1_000032" "g.72360215G>A" "" "" "" "PRF1(NM_001083116.1):c.444C>T (p.A148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600459G>A" "" "benign" "" "0000540598" "0" "10" "10" "72360387" "72360387" "subst" "0.0294425" "01804" "PRF1_000012" "g.72360387G>A" "" "" "" "PRF1(NM_001083116.1):c.272C>T (p.(Ala91Val)), PRF1(NM_001083116.3):c.272C>T (p.A91V), PRF1(NM_005041.5):c.272C>T (p.A91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600631G>A" "" "benign" "" "0000540599" "0" "10" "10" "72360563" "72360563" "subst" "0.00104443" "01943" "PRF1_000033" "g.72360563C>T" "" "" "" "PRF1(NM_001083116.1):c.96G>A (p.K32=), PRF1(NM_005041.5):c.96G>A (p.K32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600807C>T" "" "benign" "" "0000540600" "0" "50" "10" "72360577" "72360577" "subst" "0.00118006" "01943" "PRF1_000034" "g.72360577G>A" "" "" "" "PRF1(NM_001083116.1):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600821G>A" "" "VUS" "" "0000612600" "0" "50" "10" "72358167" "72358167" "subst" "0.000721136" "02325" "PRF1_000035" "g.72358167G>A" "" "" "" "PRF1(NM_001083116.1):c.1310C>T (p.A437V), PRF1(NM_001083116.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598411G>A" "" "VUS" "" "0000612601" "0" "50" "10" "72358366" "72358366" "subst" "4.9579E-5" "01943" "PRF1_000036" "g.72358366T>C" "" "" "" "PRF1(NM_001083116.1):c.1111A>G (p.R371G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598610T>C" "" "VUS" "" "0000612602" "0" "90" "10" "72360265" "72360265" "subst" "4.06309E-6" "02325" "PRF1_000037" "g.72360265C>T" "" "" "" "PRF1(NM_001083116.3):c.394G>A (p.G132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600509C>T" "" "pathogenic" "" "0000612603" "0" "50" "10" "72360304" "72360304" "subst" "4.06752E-6" "01943" "PRF1_000038" "g.72360304G>A" "" "" "" "PRF1(NM_001083116.1):c.355C>T (p.R119W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600548G>A" "" "VUS" "" "0000622407" "0" "50" "10" "72358167" "72358167" "subst" "0.000721136" "01943" "PRF1_000035" "g.72358167G>A" "" "" "" "PRF1(NM_001083116.1):c.1310C>T (p.A437V), PRF1(NM_001083116.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70598411G>A" "" "VUS" "" "0000622408" "0" "30" "10" "72360563" "72360563" "subst" "0.00104443" "02326" "PRF1_000033" "g.72360563C>T" "" "" "" "PRF1(NM_001083116.1):c.96G>A (p.K32=), PRF1(NM_005041.5):c.96G>A (p.K32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70600807C>T" "" "likely benign" "" "0000629259" "21" "90" "10" "72358665" "72358669" "del" "0" "00006" "PRF1_000039" "g.72358665_72358669del" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "808_812delGGCAG" "" "Germline" "" "" "0" "" "" "g.70598909_70598913del" "" "pathogenic" "" "0000629328" "11" "90" "10" "72358819" "72358819" "subst" "1.22946E-5" "00006" "PRF1_000040" "g.72358819C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.70599063C>T" "" "pathogenic" "" "0000647951" "1" "70" "10" "72358128" "72358128" "subst" "2.03283E-5" "03575" "PRF1_000024" "g.72358128G>A" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs189650890}" "Germline" "" "rs189650890" "0" "" "" "g.70598372G>A" "" "likely pathogenic" "" "0000647952" "1" "50" "10" "72358722" "72358722" "subst" "0.00499155" "03575" "PRF1_000006" "g.72358722T>C" "31/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 31 heterozygous, no homozygous; {DB:CLININrs28933375}" "Germline" "" "rs28933375" "0" "" "" "g.70598966T>C" "" "VUS" "" "0000647953" "1" "90" "10" "72358804" "72358804" "subst" "1.22727E-5" "03575" "PRF1_000030" "g.72358804G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28933973}" "Germline" "" "rs28933973" "0" "" "" "g.70599048G>A" "" "pathogenic" "" "0000647954" "1" "50" "10" "72360197" "72360197" "subst" "0.006746" "03575" "PRF1_000041" "g.72360197T>C" "32/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 32 heterozygous, no homozygous; {DB:CLININrs116554195}" "Germline" "" "rs116554195" "0" "" "" "g.70600441T>C" "" "VUS" "" "0000647955" "1" "10" "10" "72360224" "72360224" "subst" "0.00601446" "03575" "PRF1_000042" "g.72360224C>T" "32/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous, no homozygous; {DB:CLININrs115281140}" "Germline" "" "rs115281140" "0" "" "" "g.70600468C>T" "" "benign" "" "0000647956" "1" "50" "10" "72360387" "72360387" "subst" "0.0294425" "03575" "PRF1_000012" "g.72360387G>A" "21/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 21 heterozygous, no homozygous; {DB:CLININrs35947132}" "Germline" "" "rs35947132" "0" "" "" "g.70600631G>A" "" "VUS" "" "0000673990" "2" "90" "10" "72360594" "72360594" "del" "1.27127E-5" "03695" "PRF1_000044" "g.72360594del" "" "" "" "65delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000673991" "2" "70" "10" "72358179" "72358179" "subst" "0" "03695" "PRF1_000043" "g.72358179G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722899" "0" "50" "10" "72360399" "72360399" "subst" "0" "02325" "PRF1_000013" "g.72360399C>T" "" "" "" "PRF1(NM_001083116.1):c.260G>A (p.R87H), PRF1(NM_001083116.3):c.260G>A (p.R87H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722900" "0" "30" "10" "72360648" "72360648" "subst" "0.00594314" "02326" "PRF1_000045" "g.72360648C>T" "" "" "" "PRF1(NM_001083116.1):c.11G>A (p.(Arg4His), p.R4H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735010" "0" "70" "10" "72358324" "72358324" "subst" "0.000174059" "04011" "PRF1_000019" "g.72358324G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735263" "0" "70" "10" "72358803" "72358803" "subst" "0.000151316" "04011" "PRF1_000046" "g.72358803C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000804502" "0" "30" "10" "72358223" "72358223" "subst" "4.09722E-6" "01943" "PRF1_000047" "g.72358223C>T" "" "" "" "PRF1(NM_001083116.1):c.1254G>A (p.E418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804503" "0" "50" "10" "72358516" "72358516" "subst" "0.000178737" "02325" "PRF1_000048" "g.72358516C>T" "" "" "" "PRF1(NM_001083116.3):c.961G>A (p.G321R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804504" "0" "30" "10" "72358722" "72358722" "subst" "0.00499155" "02327" "PRF1_000006" "g.72358722T>C" "" "" "" "PRF1(NM_001083116.1):c.755A>G (p.N252S), PRF1(NM_005041.5):c.755A>G (p.N252S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804505" "0" "30" "10" "72358941" "72358941" "subst" "8.22179E-5" "01943" "PRF1_000049" "g.72358941C>T" "" "" "" "PRF1(NM_001083116.1):c.540-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852536" "0" "30" "10" "72358511" "72358511" "subst" "1.21873E-5" "01943" "PRF1_000052" "g.72358511G>A" "" "" "" "PRF1(NM_001083116.1):c.966C>T (p.P322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852537" "0" "30" "10" "72358574" "72358574" "subst" "2.03051E-5" "01943" "PRF1_000054" "g.72358574C>T" "" "" "" "PRF1(NM_001083116.1):c.903G>A (p.S301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852538" "0" "70" "10" "72358633" "72358635" "del" "0" "01943" "PRF1_000017" "g.72358633_72358635del" "" "" "" "PRF1(NM_001083116.1):c.853_855delAAG (p.K285del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852539" "0" "50" "10" "72358811" "72358811" "subst" "3.68258E-5" "01943" "PRF1_000007" "g.72358811G>T" "" "" "" "PRF1(NM_001083116.1):c.666C>A (p.H222Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852540" "0" "30" "10" "72360140" "72360140" "subst" "0.000650459" "01943" "PRF1_000009" "g.72360140C>T" "" "" "" "PRF1(NM_001083116.1):c.519G>A (p.T173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852541" "0" "50" "10" "72360291" "72360291" "subst" "0.000529346" "01943" "PRF1_000011" "g.72360291C>T" "" "" "" "PRF1(NM_001083116.1):c.368G>A (p.R123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852542" "0" "50" "10" "72360562" "72360562" "subst" "1.66475E-5" "01943" "PRF1_000057" "g.72360562G>A" "" "" "" "PRF1(NM_001083116.1):c.97C>T (p.R33C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852543" "0" "90" "10" "72360609" "72360609" "del" "0.000223349" "01943" "PRF1_000018" "g.72360609del" "" "" "" "PRF1(NM_001083116.1):c.50delT (p.L17Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861957" "0" "50" "10" "72357915" "72357915" "subst" "0" "01943" "PRF1_000050" "g.72357915T>C" "" "" "" "PRF1(NM_001083116.1):c.1562A>G (p.Y521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861958" "0" "50" "10" "72357976" "72357976" "subst" "8.12123E-6" "01943" "PRF1_000051" "g.72357976G>A" "" "" "" "PRF1(NM_001083116.1):c.1501C>T (p.P501S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861959" "0" "30" "10" "72358514" "72358514" "subst" "0" "01943" "PRF1_000053" "g.72358514C>A" "" "" "" "PRF1(NM_001083116.1):c.963G>T (p.G321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861960" "0" "30" "10" "72358775" "72358775" "subst" "0.00200518" "02326" "PRF1_000055" "g.72358775C>T" "" "" "" "PRF1(NM_001083116.1):c.702G>A (p.S234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861961" "0" "30" "10" "72360278" "72360278" "subst" "2.44105E-5" "02326" "PRF1_000056" "g.72360278G>A" "" "" "" "PRF1(NM_001083116.1):c.381C>T (p.N127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889208" "0" "30" "10" "72357857" "72357857" "subst" "0.00188475" "02326" "PRF1_000020" "g.72357857T>C" "" "" "" "PRF1(NM_001083116.1):c.1620A>G (p.Q540=), PRF1(NM_005041.5):c.1620A>G (p.Q540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889209" "0" "30" "10" "72358172" "72358172" "subst" "1.22257E-5" "02326" "PRF1_000058" "g.72358172C>T" "" "" "" "PRF1(NM_001083116.1):c.1305G>A (p.T435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913309" "0" "30" "10" "72358845" "72358845" "subst" "0.00217054" "02326" "PRF1_000059" "g.72358845G>A" "" "" "" "PRF1(NM_001083116.1):c.632C>T (p.A211V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913310" "0" "30" "10" "72360548" "72360548" "subst" "0.00195411" "02326" "PRF1_000060" "g.72360548G>A" "" "" "" "PRF1(NM_001083116.1):c.111C>T (p.F37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920278" "1" "90" "10" "72360214" "72360214" "subst" "0.000142142" "00006" "PRF1_000010" "g.72360214C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.70600458C>T" "" "pathogenic" "ACMG" "0000920347" "2" "90" "10" "72358396" "72358396" "subst" "8.22071E-6" "00006" "PRF1_000061" "g.72358396T>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.70598640T>A" "" "pathogenic" "ACMG" "0000925181" "0" "50" "10" "72358167" "72358167" "subst" "0.000721136" "02326" "PRF1_000035" "g.72358167G>A" "" "" "" "PRF1(NM_001083116.1):c.1310C>T (p.A437V), PRF1(NM_001083116.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925182" "0" "30" "10" "72358837" "72358837" "subst" "8.20432E-6" "02326" "PRF1_000062" "g.72358837T>C" "" "" "" "PRF1(NM_001083116.1):c.640A>G (p.R214G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929692" "0" "30" "10" "72358751" "72358751" "subst" "0.0030324" "02326" "PRF1_000063" "g.72358751G>A" "" "" "" "PRF1(NM_001083116.1):c.726C>T (p.C242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952113" "0" "90" "10" "72360214" "72360214" "subst" "0.000142142" "04599" "PRF1_000010" "g.72360214C>T" "" "" "" "" "" "Germline" "" "rs147462227" "0" "" "" "g.70600458C>T" "520942" "pathogenic" "ACMG" "0000952114" "0" "90" "10" "72360214" "72360214" "subst" "0.000142142" "04599" "PRF1_000010" "g.72360214C>T" "" "" "" "" "" "Germline" "" "rs147462227" "0" "" "" "g.70600458C>T" "520942" "pathogenic" "ACMG" "0000965806" "0" "30" "10" "72360131" "72360131" "subst" "0.00107388" "02329" "PRF1_000008" "g.72360131G>A" "" "" "" "PRF1(NM_001083116.1):c.528C>T (p.C176=), PRF1(NM_001083116.3):c.528C>T (p.C176=), PRF1(NM_005041.5):c.528C>T (p.C176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965807" "0" "50" "10" "72360387" "72360387" "subst" "0.0294425" "02329" "PRF1_000012" "g.72360387G>A" "" "" "" "PRF1(NM_001083116.1):c.272C>T (p.(Ala91Val)), PRF1(NM_001083116.3):c.272C>T (p.A91V), PRF1(NM_005041.5):c.272C>T (p.A91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998480" "0" "50" "10" "72358033" "72358033" "subst" "2.43655E-5" "01804" "PRF1_000064" "g.72358033C>A" "" "" "" "PRF1(NM_001083116.1):c.1444G>T (p.(Val482Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998481" "0" "30" "10" "72360648" "72360648" "subst" "0.00594314" "01804" "PRF1_000045" "g.72360648C>T" "" "" "" "PRF1(NM_001083116.1):c.11G>A (p.(Arg4His), p.R4H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025762" "0" "50" "10" "72358333" "72358333" "subst" "9.13568E-5" "02329" "PRF1_000065" "g.72358333G>A" "" "" "" "PRF1(NM_001083116.3):c.1144C>T (p.(Pro382Ser), p.P382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037969" "0" "50" "10" "72358333" "72358333" "subst" "9.13568E-5" "01804" "PRF1_000065" "g.72358333G>A" "" "" "" "PRF1(NM_001083116.3):c.1144C>T (p.(Pro382Ser), p.P382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047891" "3" "50" "10" "72358476" "72358476" "subst" "1.21987E-5" "00006" "PRF1_000066" "g.72358476C>T" "" "{PMID:Fevga 2022:36115200}, {DOI:Fevga 2022:10.1016/j.parkreldis.2022.08.031}" "" "" "" "Germline" "" "" "0" "" "" "g.70598720C>T" "" "VUS" "" "0001053574" "0" "50" "10" "72358672" "72358672" "subst" "0" "01804" "PRF1_000067" "g.72358672G>A" "" "" "" "PRF1(NM_001083116.3):c.805C>T (p.(His269Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053575" "0" "50" "10" "72358914" "72358914" "subst" "9.02749E-5" "01804" "PRF1_000068" "g.72358914G>A" "" "" "" "PRF1(NM_001083116.3):c.563C>T (p.(Pro188Leu))" "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 PRF1 ## Count = 97 "{{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}}" "0000251475" "00016802" "10" "1842" "0" "1842" "0" "c.*174T>C" "r.(=)" "p.(=)" "" "0000297328" "00016802" "10" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(His300=)" "" "0000301172" "00016802" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Asp491Asn)" "" "0000301173" "00016802" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87His)" "" "0000301174" "00016802" "10" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ala91Val)" "" "0000301175" "00016802" "30" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123His)" "" "0000301176" "00016802" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Ser)" "" "0000301177" "00016802" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Thr173=)" "" "0000301178" "00016802" "50" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(His222Gln)" "" "0000301179" "00016802" "10" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asn252Ser)" "" "0000301180" "00016802" "10" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Ala274=)" "" "0000301181" "00016802" "10" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(His300=)" "" "0000306339" "00016802" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4Cys)" "" "0000306340" "00016802" "30" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(Thr404=)" "" "0000306341" "00016802" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Cys176=)" "" "0000342849" "00016802" "50" "1229" "0" "1229" "0" "c.1229G>C" "r.(?)" "p.(Arg410Pro)" "" "0000349786" "00016802" "90" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374Ter)" "" "0000398603" "00016802" "90" "50" "0" "50" "0" "c.50del" "r.(?)" "p.(Leu17Argfs*34)" "" "0000398604" "00016802" "90" "853" "0" "855" "0" "c.853_855del" "r.(?)" "p.(Lys285del)" "" "0000540580" "00016802" "10" "1620" "0" "1620" "0" "c.1620A>G" "r.(?)" "p.(Gln540=)" "" "0000540581" "00016802" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000540582" "00016802" "50" "1373" "0" "1373" "0" "c.1373A>C" "r.(?)" "p.(Asn458Thr)" "" "0000540583" "00016802" "50" "1357" "0" "1357" "0" "c.1357G>A" "r.(?)" "p.(Val453Met)" "" "0000540584" "00016802" "90" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Thr450Met)" "" "0000540585" "00016802" "90" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374Ter)" "" "0000540586" "00016802" "70" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Asp340Asn)" "" "0000540587" "00016802" "30" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Leu315=)" "" "0000540588" "00016802" "10" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(His300=)" "" "0000540589" "00016802" "30" "890" "0" "890" "0" "c.890G>C" "r.(?)" "p.(Arg297Pro)" "" "0000540590" "00016802" "90" "853" "0" "855" "0" "c.853_855del" "r.(?)" "p.(Lys285del)" "" "0000540591" "00016802" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Cys279Tyr)" "" "0000540592" "00016802" "50" "812" "0" "814" "0" "c.812_814del" "r.(?)" "p.(Ser271del)" "" "0000540593" "00016802" "30" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asn252Ser)" "" "0000540594" "00016802" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "" "0000540595" "00016802" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Cys176=)" "" "0000540596" "00016802" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(His163=)" "" "0000540597" "00016802" "10" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Ala148=)" "" "0000540598" "00016802" "10" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ala91Val)" "" "0000540599" "00016802" "10" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Lys32=)" "" "0000540600" "00016802" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000612600" "00016802" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000612601" "00016802" "50" "1111" "0" "1111" "0" "c.1111A>G" "r.(?)" "p.(Arg371Gly)" "" "0000612602" "00016802" "90" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Arg)" "" "0000612603" "00016802" "50" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Trp)" "" "0000622407" "00016802" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000622408" "00016802" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Lys32=)" "" "0000629259" "00016802" "90" "808" "0" "812" "0" "c.808_812del" "r.(?)" "p.(Gly270Hisfs*9)" "" "0000629328" "00016802" "90" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Ser)" "" "0000647951" "00016802" "70" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Thr450Met)" "" "0000647952" "00016802" "50" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asn252Ser)" "" "0000647953" "00016802" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "" "0000647954" "00016802" "50" "462" "0" "462" "0" "c.462A>G" "r.(=)" "p.(=)" "" "0000647955" "00016802" "10" "435" "0" "435" "0" "c.435G>A" "r.(=)" "p.(=)" "" "0000647956" "00016802" "50" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ala91Val)" "" "0000673990" "00016802" "90" "65" "0" "65" "0" "c.65del" "r.(?)" "p.(Pro22Argfs*29)" "" "0000673991" "00016802" "70" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Thr433Ile)" "" "0000722899" "00016802" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87His)" "" "0000722900" "00016802" "30" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4His)" "" "0000735010" "00016802" "50" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Trp)" "" "0000735263" "00016802" "50" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225Gln)" "" "0000804502" "00016802" "30" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Glu418=)" "" "0000804503" "00016802" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Arg)" "" "0000804504" "00016802" "30" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asn252Ser)" "" "0000804505" "00016802" "30" "540" "-4" "540" "-4" "c.540-4G>A" "r.spl?" "p.?" "" "0000852536" "00016802" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Pro322=)" "" "0000852537" "00016802" "30" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Ser301=)" "" "0000852538" "00016802" "70" "853" "0" "855" "0" "c.853_855del" "r.(?)" "p.(Lys285del)" "" "0000852539" "00016802" "50" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(His222Gln)" "" "0000852540" "00016802" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Thr173=)" "" "0000852541" "00016802" "50" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123His)" "" "0000852542" "00016802" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "0000852543" "00016802" "90" "50" "0" "50" "0" "c.50del" "r.(?)" "p.(Leu17Argfs*34)" "" "0000861957" "00016802" "50" "1562" "0" "1562" "0" "c.1562A>G" "r.(?)" "p.(Tyr521Cys)" "" "0000861958" "00016802" "50" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Pro501Ser)" "" "0000861959" "00016802" "30" "963" "0" "963" "0" "c.963G>T" "r.(?)" "p.(Gly321=)" "" "0000861960" "00016802" "30" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Ser234=)" "" "0000861961" "00016802" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(Asn127=)" "" "0000889208" "00016802" "30" "1620" "0" "1620" "0" "c.1620A>G" "r.(?)" "p.(Gln540=)" "" "0000889209" "00016802" "30" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Thr435=)" "" "0000913309" "00016802" "30" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Ala211Val)" "" "0000913310" "00016802" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Phe37=)" "" "0000920278" "00016802" "90" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Ser)" "2" "0000920347" "00016802" "90" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.(Arg361Trp)" "3" "0000925181" "00016802" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000925182" "00016802" "30" "640" "0" "640" "0" "c.640A>G" "r.(?)" "p.(Arg214Gly)" "" "0000929692" "00016802" "30" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(=)" "" "0000952113" "00016802" "90" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Ser)" "" "0000952114" "00016802" "90" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Ser)" "" "0000965806" "00016802" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Cys176=)" "" "0000965807" "00016802" "50" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ala91Val)" "" "0000998480" "00016802" "50" "1444" "0" "1444" "0" "c.1444G>T" "r.(?)" "p.(Val482Phe)" "" "0000998481" "00016802" "30" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4His)" "" "0001025762" "00016802" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Pro382Ser)" "" "0001037969" "00016802" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Pro382Ser)" "" "0001047891" "00016802" "50" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "" "0001053574" "00016802" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(His269Tyr)" "" "0001053575" "00016802" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Pro188Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000175747" "0000398603" "0000175747" "0000398604" "0000275295" "0000629259" "0000275295" "0000629328" "0000291262" "0000647951" "0000291263" "0000647952" "0000291264" "0000647953" "0000291265" "0000647954" "0000291266" "0000647955" "0000291267" "0000647956" "0000307363" "0000673990" "0000307363" "0000673991" "0000336076" "0000735010" "0000336156" "0000735263" "0000434524" "0000920278" "0000434524" "0000920347" "0000445211" "0000952113" "0000445212" "0000952114" "0000468171" "0001047891"