### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PFN1) # 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}}" "PFN1" "profilin 1" "17" "p13.2" "unknown" "NG_032945.1" "UD_136090061598" "" "https://www.LOVD.nl/PFN1" "" "1" "8881" "5216" "176610" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PFN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-06-20 15:04:10" "00000" "2024-08-28 13:16:32" ## 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}}" "00016014" "PFN1" "profilin 1" "001" "NM_005022.3" "" "NP_005013.1" "" "" "" "-692" "673" "423" "4852381" "4848945" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "03729" "ALS18" "sclerosis, lateral, amyotrophic, type 18 (ALS18)" "" "614808" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PFN1" "03729" "PFN1" "04255" ## 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}}" "00411969" "" "" "" "8" "" "00006" "{PMID:Wu 2012:22801503}" "4-generation family, 8 affected" "" "" "" "" "0" "" "" "white" "Fam1" "00411970" "" "" "" "11" "" "00006" "{PMID:Wu 2012:22801503}" "3-generation family, 11 affected" "" "" "" "" "0" "" "" "Jew-Sephardic" "Fam2" "00411971" "" "" "" "7" "" "00006" "{PMID:Wu 2012:22801503}" "4-generation family, 7 affected" "" "" "" "" "0" "" "" "" "Fam3" "00411972" "" "" "" "8" "" "00006" "{PMID:Wu 2012:22801503}" "3-generation family, 8 affected" "" "" "" "" "0" "" "" "" "Fam4" "00411973" "" "" "" "2" "" "00006" "{PMID:Wu 2012:22801503}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam5" "00411974" "" "" "" "2" "" "00006" "{PMID:Wu 2012:22801503}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam6" "00411975" "" "" "" "2" "" "00006" "{PMID:Wu 2012:22801503}" "3-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam7" "00411976" "" "" "" "1" "" "00006" "{PMID:Wu 2012:22801503}" "sporadic case" "" "" "" "" "0" "" "" "" "SALS1" "00411977" "" "" "" "1" "" "00006" "{PMID:Wu 2012:22801503}" "sporadic case" "" "" "" "" "0" "" "" "" "SALS2" "00411978" "" "" "" "1" "" "00006" "{PMID:Wu 2012:22801503}" "" "" "" "" "" "0" "" "" "" "" "00411979" "" "" "" "1" "" "00006" "{PMID:Wu 2012:22801503}" "" "" "" "" "" "0" "" "" "" "" "00411980" "" "" "" "1" "" "00006" "{PMID:Wu 2012:22801503}" "" "" "" "" "" "0" "" "" "" "" "00411981" "" "" "" "1" "" "00006" "{PMID:Wu 2012:22801503}" "" "" "" "" "" "0" "" "" "" "" "00411985" "" "" "" "3" "" "00006" "{PMID:Ingre 2013:23141414}" "4-generation family, 3 affected (3F)" "F" "" "Germany" "" "0" "" "" "" "Pat1" "00411986" "" "" "" "1" "" "00006" "{PMID:Ingre 2013:23141414}" "" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat2" "00411987" "" "" "" "1" "" "00006" "{PMID:Chen 2013:23428184}" "" "" "" "China" "" "0" "" "" "" "patient" "00411988" "" "" "" "1" "" "00006" "{PMID:Chen 2013:23428184}" "" "" "" "China" "" "0" "" "" "" "patient" "00411989" "" "" "" "1" "" "00006" "{PMID:Chen 2013:23428184}" "" "" "" "China" "" "0" "" "" "" "control" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00411969" "04255" "00411970" "04255" "00411971" "04255" "00411972" "04255" "00411973" "04255" "00411974" "04255" "00411975" "04255" "00411976" "04255" "00411977" "04255" "00411978" "04255" "00411979" "04255" "00411980" "04255" "00411981" "04255" "00411985" "04255" "00411986" "04255" "00411987" "04255" "00411988" "04255" "00411989" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 03729, 04255 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000303996" "04255" "00411969" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000303997" "04255" "00411970" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000303998" "04255" "00411971" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000303999" "04255" "00411972" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000304000" "04255" "00411973" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000304001" "04255" "00411974" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000304002" "04255" "00411975" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000304003" "04255" "00411976" "00006" "Unknown" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000304004" "04255" "00411977" "00006" "Unknown" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "0000304005" "04255" "00411985" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" ## 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}}" "0000413241" "00411969" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413242" "00411970" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413243" "00411971" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413244" "00411972" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413245" "00411973" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413246" "00411974" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413247" "00411975" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413248" "00411976" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413249" "00411977" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413250" "00411978" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413251" "00411979" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413252" "00411980" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413253" "00411981" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ" "DNA" "" "" "0000413257" "00411985" "1" "00006" "00006" "2022-06-20 15:52:05" "" "" "SEQ" "DNA" "" "" "0000413258" "00411986" "1" "00006" "00006" "2022-06-20 15:57:26" "" "" "SEQ" "DNA" "" "" "0000413259" "00411987" "1" "00006" "00006" "2022-06-20 16:01:38" "" "" "SEQ" "DNA" "" "" "0000413260" "00411988" "1" "00006" "00006" "2022-06-20 16:04:58" "" "" "SEQ" "DNA" "" "" "0000413261" "00411989" "1" "00006" "00006" "2022-06-20 16:07:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000413243" "PFN1" "0000413244" "PFN1" "0000413245" "PFN1" "0000413246" "PFN1" "0000413247" "PFN1" "0000413248" "PFN1" "0000413249" "PFN1" "0000413250" "PFN1" "0000413251" "PFN1" "0000413252" "PFN1" "0000413253" "PFN1" "0000413257" "PFN1" "0000413258" "PFN1" "0000413259" "PFN1" "0000413260" "PFN1" "0000413261" "PFN1" ## 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 = 33 "{{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}}" "0000248872" "0" "10" "17" "4856376" "4856376" "subst" "0.649563" "02325" "ENO3_000001" "g.4856376A>G" "" "" "" "ENO3(NM_001976.5):c.212A>G (p.N71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4953081A>G" "" "benign" "" "0000267834" "0" "10" "17" "4856580" "4856580" "subst" "0.461991" "02325" "ENO3_000002" "g.4856580T>C" "" "" "" "ENO3(NM_001976.5):c.254T>C (p.V85A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4953285T>C" "" "benign" "" "0000293702" "0" "10" "17" "4849284" "4849284" "subst" "0.0697552" "02330" "PFN1_000003" "g.4849284G>A" "" "" "" "PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4945989G>A" "" "benign" "" "0000298851" "0" "10" "17" "4849284" "4849284" "subst" "0.0697552" "02329" "PFN1_000003" "g.4849284G>A" "" "" "" "PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4945989G>A" "" "benign" "" "0000305508" "0" "30" "17" "4849284" "4849284" "subst" "0.0697552" "01943" "PFN1_000003" "g.4849284G>A" "" "" "" "PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4945989G>A" "" "likely benign" "" "0000305509" "0" "50" "17" "4849268" "4849268" "subst" "0.000503521" "01943" "PFN1_000002" "g.4849268T>C" "" "" "" "PFN1(NM_005022.3):c.350A>G (p.E117G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4945973T>C" "" "VUS" "" "0000305510" "0" "50" "17" "4849267" "4849267" "subst" "0.000491343" "01943" "PFN1_000001" "g.4849267T>A" "" "" "" "PFN1(NM_005022.3):c.351A>T (p.E117D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4945972T>A" "" "VUS" "" "0000325135" "0" "50" "17" "4846508" "4846508" "subst" "4.46915E-5" "01804" "RNF167_000001" "g.4846508C>T" "" "" "" "RNF167(NM_015528.1):c.505C>T (p.(Pro169Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4943213C>T" "" "VUS" "" "0000325136" "0" "50" "17" "4848234" "4848234" "subst" "3.76198E-5" "01804" "RNF167_000002" "g.4848234C>G" "" "" "" "RNF167(NM_015528.1):c.976C>G (p.(Pro326Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4944939C>G" "" "VUS" "" "0000562233" "0" "50" "17" "4847913" "4847913" "subst" "8.17461E-6" "01943" "PFN1_000005" "g.4847913G>A" "" "" "" "RNF167(NM_015528.2):c.731G>A (p.R244Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4944618G>A" "" "VUS" "" "0000562234" "0" "10" "17" "4856390" "4856390" "subst" "0.00206286" "01943" "ENO3_000004" "g.4856390G>C" "" "" "" "ENO3(NM_001976.4):c.226G>C (p.A76P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4953095G>C" "" "benign" "" "0000726507" "0" "30" "17" "4856369" "4856369" "subst" "4.06095E-6" "01943" "ENO3_000009" "g.4856369A>C" "" "" "" "ENO3(NM_001976.4):c.205A>C (p.I69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808092" "0" "30" "17" "4849246" "4849246" "subst" "0" "01943" "ENO3_000010" "g.4849246G>A" "" "" "" "PFN1(NM_005022.3):c.372C>T (p.I124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870682" "1" "90" "17" "4850037" "4850037" "subst" "0" "00006" "PFN1_000012" "g.4850037A>C" "" "{PMID:Wu 2012:22801503}" "" "C71G" "" "Germline" "" "" "0" "" "" "g.4946742A>C" "" "pathogenic (dominant)" "" "0000870683" "1" "90" "17" "4849277" "4849277" "subst" "0" "00006" "PFN1_000011" "g.4849277A>G" "" "{PMID:Wu 2012:22801503}" "" "M114T" "" "Germline" "" "" "0" "" "" "g.4945982A>G" "" "pathogenic (dominant)" "" "0000870684" "1" "90" "17" "4850037" "4850037" "subst" "0" "00006" "PFN1_000012" "g.4850037A>C" "" "{PMID:Wu 2012:22801503}" "" "C71G" "" "Germline" "" "" "0" "" "" "g.4946742A>C" "" "pathogenic (dominant)" "" "0000870685" "1" "90" "17" "4849277" "4849277" "subst" "0" "00006" "PFN1_000011" "g.4849277A>G" "" "{PMID:Wu 2012:22801503}" "" "M114T" "" "Germline" "" "" "0" "" "" "g.4945982A>G" "" "pathogenic (dominant)" "" "0000870686" "1" "90" "17" "4850037" "4850037" "subst" "0" "00006" "PFN1_000012" "g.4850037A>C" "" "{PMID:Wu 2012:22801503}" "" "C71G" "" "Germline" "" "" "0" "" "" "g.4946742A>C" "" "pathogenic (dominant)" "" "0000870687" "1" "90" "17" "4849265" "4849265" "subst" "0" "00006" "PFN1_000010" "g.4849265C>A" "" "{PMID:Wu 2012:22801503}" "" "G118V" "" "Germline" "" "" "0" "" "" "g.4945970C>A" "" "pathogenic (dominant)" "" "0000870688" "1" "90" "17" "4849268" "4849268" "subst" "0.000503521" "00006" "PFN1_000002" "g.4849268T>C" "" "{PMID:Wu 2012:22801503}" "" "E117G" "" "Germline" "" "" "0" "" "" "g.4945973T>C" "" "pathogenic (dominant)" "" "0000870689" "1" "90" "17" "4849268" "4849268" "subst" "0.000503521" "00006" "PFN1_000002" "g.4849268T>C" "2/816 sporadic cases ALS" "{PMID:Wu 2012:22801503}" "" "E117G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4945973T>C" "" "pathogenic" "" "0000870690" "1" "90" "17" "4849268" "4849268" "subst" "0.000503521" "00006" "PFN1_000002" "g.4849268T>C" "2/816 sporadic cases ALS" "{PMID:Wu 2012:22801503}" "" "E117G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4945973T>C" "" "pathogenic" "" "0000870691" "1" "30" "17" "4851633" "4851633" "subst" "4.1502E-6" "00006" "PFN1_000014" "g.4851633G>A" "" "{PMID:Wu 2012:22801503}" "" "D19D" "" "Germline" "" "" "0" "" "" "g.4948338G>A" "" "likely benign" "" "0000870692" "1" "30" "17" "4850041" "4850041" "subst" "0" "00006" "PFN1_000013" "g.4850041C>T" "" "{PMID:Wu 2012:22801503}" "" "Q69Q" "" "Germline" "" "" "0" "" "" "g.4946746C>T" "" "likely benign" "" "0000870693" "1" "30" "17" "4849284" "4849284" "subst" "0.0697552" "00006" "PFN1_000003" "g.4849284G>A" "" "{PMID:Wu 2012:22801503}" "" "L112L" "" "Germline" "" "rs13204" "0" "" "" "g.4945989G>A" "" "likely benign" "" "0000870694" "1" "10" "17" "4849219" "4849219" "subst" "0.000231459" "00006" "PFN1_000009" "g.4849219G>A" "" "{PMID:Wu 2012:22801503}" "" "S133S" "" "Germline" "" "rs145109002" "0" "" "" "g.4945924G>A" "" "benign" "" "0000870701" "1" "90" "17" "4849292" "4849292" "subst" "0" "00006" "PFN1_000006" "g.4849292G>A" "1/412 cases familial ALS" "{PMID:Ingre 2013:23141414}" "" "" "not in 972 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000870702" "1" "70" "17" "4849268" "4849268" "subst" "0.000503521" "00006" "PFN1_000002" "g.4849268T>C" "" "{PMID:Ingre 2013:23141414}" "" "Gln117Gly" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000870703" "0" "90" "17" "4849212" "4849212" "subst" "0" "00006" "PFN1_000007" "g.4849212G>A" "1/540 cases ALS" "{PMID:Chen 2013:23428184}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000870704" "0" "10" "17" "4849984" "4849984" "subst" "0" "00006" "PFN1_000008" "g.4849984A>G" "" "{PMID:Chen 2013:23428184}" "" "264T>C (p.L88L)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000870705" "0" "30" "17" "4849984" "4849984" "subst" "0" "00006" "PFN1_000008" "g.4849984A>G" "" "{PMID:Chen 2013:23428184}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000950949" "0" "50" "17" "4857108" "4857108" "subst" "0.000129951" "02326" "ENO3_000011" "g.4857108G>A" "" "" "" "ENO3(NM_053013.4):c.412G>A (p.A138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003404" "0" "50" "17" "4848185" "4848186" "del" "0" "01804" "PFN1_000015" "g.4848185_4848186del" "" "" "" "RNF167(NM_015528.1):c.927_928delAC (p.(Leu310fs))" "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 PFN1 ## Count = 33 "{{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}}" "0000248872" "00016014" "10" "-4687" "0" "-4687" "0" "c.-4687T>C" "r.(?)" "p.(=)" "" "0000267834" "00016014" "10" "-4891" "0" "-4891" "0" "c.-4891A>G" "r.(?)" "p.(=)" "" "0000293702" "00016014" "10" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Leu112=)" "" "0000298851" "00016014" "10" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Leu112=)" "" "0000305508" "00016014" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Leu112=)" "" "0000305509" "00016014" "50" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Glu117Gly)" "" "0000305510" "00016014" "50" "351" "0" "351" "0" "c.351A>T" "r.(?)" "p.(Glu117Asp)" "" "0000325135" "00016014" "50" "3110" "0" "3110" "0" "c.*2687G>A" "r.(=)" "p.(=)" "" "0000325136" "00016014" "50" "1384" "0" "1384" "0" "c.*961G>C" "r.(=)" "p.(=)" "" "0000562233" "00016014" "50" "1705" "0" "1705" "0" "c.*1282C>T" "r.(=)" "p.(=)" "" "0000562234" "00016014" "10" "-4701" "0" "-4701" "0" "c.-4701C>G" "r.(?)" "p.(=)" "" "0000726507" "00016014" "30" "-4680" "0" "-4680" "0" "c.-4680T>G" "r.(?)" "p.(=)" "" "0000808092" "00016014" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Ile124=)" "" "0000870682" "00016014" "90" "211" "0" "211" "0" "c.211T>G" "r.(?)" "p.(Cys71Gly)" "" "0000870683" "00016014" "90" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Met114Thr)" "" "0000870684" "00016014" "90" "211" "0" "211" "0" "c.211T>G" "r.(?)" "p.(Cys71Gly)" "" "0000870685" "00016014" "90" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Met114Thr)" "" "0000870686" "00016014" "90" "211" "0" "211" "0" "c.211T>G" "r.(?)" "p.(Cys71Gly)" "" "0000870687" "00016014" "90" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Gly118Val)" "" "0000870688" "00016014" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Glu117Gly)" "" "0000870689" "00016014" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Glu117Gly)" "" "0000870690" "00016014" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Glu117Gly)" "" "0000870691" "00016014" "30" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Asp19=)" "" "0000870692" "00016014" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Gln69=)" "" "0000870693" "00016014" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Leu112=)" "" "0000870694" "00016014" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Ser133=)" "" "0000870701" "00016014" "90" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Thr109Met)" "" "0000870702" "00016014" "70" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Glu117Gly)" "" "0000870703" "00016014" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Trp)" "" "0000870704" "00016014" "10" "264" "0" "264" "0" "c.264T>C" "r.(=)" "p.(Leu88=)" "" "0000870705" "00016014" "30" "264" "0" "264" "0" "c.264T>C" "r.(=)" "p.(Leu88=)" "" "0000950949" "00016014" "50" "-5419" "0" "-5419" "0" "c.-5419C>T" "r.(?)" "p.(=)" "" "0001003404" "00016014" "50" "1433" "0" "1434" "0" "c.*1010_*1011del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000413241" "0000870682" "0000413242" "0000870683" "0000413243" "0000870684" "0000413244" "0000870685" "0000413245" "0000870686" "0000413246" "0000870687" "0000413247" "0000870688" "0000413248" "0000870689" "0000413249" "0000870690" "0000413250" "0000870691" "0000413251" "0000870692" "0000413252" "0000870693" "0000413253" "0000870694" "0000413257" "0000870701" "0000413258" "0000870702" "0000413259" "0000870703" "0000413260" "0000870704" "0000413261" "0000870705"