### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FN1) # 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}}" "FN1" "fibronectin 1" "2" "q34" "unknown" "NG_012196.1" "UD_132118482384" "" "https://www.LOVD.nl/FN1" "" "1" "3778" "2335" "135600" "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/FN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-06 16:00:50" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025238" "FN1" "transcript variant 1" "005" "NM_212482.1" "" "NP_997647.1" "" "" "" "-266" "8535" "7434" "216300791" "216225177" "00006" "2017-11-06 16:03:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02402" "GFND2" "glomerulopathy, with fibronectin deposits, type 2 (GFND-2)" "AD" "601894" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "03549" "-" "deficiency, plasma fibronectin" "" "614101" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05367" "SMDCF" "dysplasia, spondylometaphyseal, corner fracture type (SMDCF)" "AD" "184255" "" "autosomal dominant" "" "00006" "2017-12-29 15:32:31" "00006" "2021-12-10 21:51:32" "05369" "SMD" "dysplasia, spondylometaphyseal (SMD)" "" "" "" "" "" "00006" "2017-12-29 15:48:06" "" "" "05396" "FSGS" "glomerulosclerosis, segmental, focal (FSGS)" "" "" "" "" "" "00006" "2018-02-16 17:34:10" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FN1" "02402" "FN1" "03549" "FN1" "05367" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00104014" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-516A" "00147033" "" "" "" "3" "" "00006" "{PMID:Lee 2017:29100092}" "3-generation family, affected mother and 2 sons, unaffected parents" "F;M" "" "United States" "" "0" "" "" "" "29100092-Fam1" "00147034" "" "" "" "1" "" "00006" "{PMID:Lee 2017:29100092}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "29100092-Fam2" "00147035" "" "" "" "1" "" "00006" "{PMID:Lee 2017:29100092}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "29100092-Fam3" "00147036" "" "" "" "2" "" "00006" "{PMID:Lee 2017:29100092}" "3-generation family, affected mother/daughter, unaffected parents" "M" "" "United States" "" "0" "" "" "" "29100092-Fam4" "00147037" "" "" "" "1" "" "00006" "{PMID:Lee 2017:29100092}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Brazil" "" "0" "" "" "" "29100092-Fam5" "00147038" "" "" "" "1" "" "00006" "{PMID:Lee 2017:29100092}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "29100092-Fam6" "00147039" "" "" "" "1" "" "00006" "{PMID:Lee 2017:29100092}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Canada" "" "0" "" "" "" "29100092-Fam7" "00153769" "" "" "" "1" "" "00687" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "hematuria and proteinuria in 30s, Focal and segmental glomerulosclerosis at 39, CKD stage 4 at 45." "M" "" "China" "" "0" "" "" "Chinese" "" "00292584" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362006" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat9AB" "00438645" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0157" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00104014" "03381" "00147033" "05369" "00147034" "05369" "00147035" "05369" "00147036" "05369" "00147037" "05369" "00147038" "05369" "00147039" "05369" "00153769" "05396" "00292584" "00198" "00362006" "04214" "00438645" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02402, 03381, 03549, 04214, 05367, 05369, 05396, 06906 ## Count = 11 "{{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}}" "0000081948" "03381" "00104014" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000119750" "05369" "00147033" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000119751" "05369" "00147034" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000119752" "05369" "00147035" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000119753" "05369" "00147036" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000119754" "05369" "00147037" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000119755" "05369" "00147038" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000119756" "05369" "00147039" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "SMDCF" "spondylometaphyseal dysplasia with ‘‘corner fractures’’" "" "0000126446" "05396" "00153769" "00687" "Unknown" "45y" "no hearing loss (-HP:0000365); no ocular changes; 45y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "glomerulosclerosis, segmental, focal (FSGS)" "" "0000257399" "04214" "00362006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000328548" "06906" "00438645" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104485" "00104014" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000147889" "00147033" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147890" "00147034" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147891" "00147035" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147892" "00147036" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147893" "00147037" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147894" "00147038" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147895" "00147039" "1" "00006" "00006" "2017-12-29 15:51:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000154630" "00153769" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000293752" "00292584" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363234" "00362006" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440127" "00438645" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000147889" "FN1" "0000147890" "FN1" "0000147891" "FN1" "0000147892" "FN1" "0000147893" "FN1" "0000147894" "FN1" "0000147895" "FN1" "0000154630" "COL4A3" ## 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 = 174 "{{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}}" "0000169344" "0" "70" "2" "216279604" "216279604" "subst" "3.24971E-5" "00587" "FN1_000001" "g.216279604G>C" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_212482.2(FN1):c.1897C>G p.(Pro633Ala)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.215414881G>C" "" "likely pathogenic" "" "0000241145" "21" "90" "2" "216299436" "216299436" "subst" "0" "00006" "FN1_000002" "g.216299436C>A" "" "{PMID:Lee 2017:29100092}" "" "" "" "Germline" "yes" "" "0" "" "" "g.215434713C>A" "" "pathogenic" "" "0000241146" "0" "90" "2" "216298095" "216298095" "subst" "0" "00006" "FN1_000003" "g.216298095A>G" "" "{PMID:Lee 2017:29100092}" "" "" "" "De novo" "" "" "0" "" "" "g.215433372A>G" "" "pathogenic" "" "0000241147" "0" "90" "2" "216295448" "216295448" "subst" "0" "00006" "FN1_000004" "g.216295448G>C" "" "{PMID:Lee 2017:29100092}" "" "" "" "De novo" "" "" "0" "" "" "g.215430725G>C" "" "pathogenic" "" "0000241148" "21" "90" "2" "216293029" "216293029" "subst" "0" "00006" "FN1_000005" "g.216293029A>C" "" "{PMID:Lee 2017:29100092}" "" "" "" "Germline" "" "" "0" "" "" "g.215428306A>C" "" "pathogenic" "" "0000241149" "0" "90" "2" "216292969" "216292969" "subst" "0" "00006" "FN1_000006" "g.216292969A>C" "" "{PMID:Lee 2017:29100092}" "" "" "" "De novo" "" "" "0" "" "" "g.215428246A>C" "" "pathogenic" "" "0000241150" "0" "90" "2" "216273026" "216273028" "del" "0" "00006" "FN1_000007" "g.216273026_216273028del" "" "{PMID:Lee 2017:29100092}" "" "" "" "De novo" "" "" "0" "" "" "g.215408303_215408305del" "" "pathogenic" "" "0000241151" "0" "90" "2" "216298095" "216298095" "subst" "0" "00006" "FN1_000003" "g.216298095A>G" "" "{PMID:Lee 2017:29100092}" "" "" "" "De novo" "" "" "0" "" "" "g.215433372A>G" "" "pathogenic" "" "0000248506" "0" "10" "2" "216272907" "216272907" "subst" "0.352267" "02325" "FN1_000022" "g.216272907A>T" "" "" "" "FN1(NM_212482.4):c.2442T>A (p.P814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215408184A>T" "" "benign" "" "0000251273" "0" "10" "2" "216257950" "216257950" "subst" "7.80198E-5" "02326" "FN1_000017" "g.216257950A>G" "" "" "" "FN1(NM_212482.2):c.3797-24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215393227A>G" "" "benign" "" "0000251274" "0" "10" "2" "216284294" "216284294" "del" "0" "02326" "FN1_000027" "g.216284294del" "" "" "" "FN1(NM_212482.2):c.1676-177delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215419571del" "" "benign" "" "0000280849" "0" "10" "2" "216299550" "216299550" "subst" "0.333114" "02325" "FN1_000029" "g.216299550G>A" "" "" "" "FN1(NM_212482.4):c.149-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215434827G>A" "" "benign" "" "0000280850" "0" "10" "2" "216299551" "216299551" "subst" "0.333125" "02325" "FN1_000030" "g.216299551C>A" "" "" "" "FN1(NM_212482.4):c.149-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215434828C>A" "" "benign" "" "0000280851" "0" "10" "2" "216283958" "216283958" "subst" "0.33412" "02325" "FN1_000026" "g.216283958T>A" "" "" "" "FN1(NM_212482.4):c.1819+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215419235T>A" "" "benign" "" "0000280852" "0" "10" "2" "216272900" "216272900" "subst" "0.999992" "02325" "FN1_000021" "g.216272900T>G" "" "" "" "FN1(NM_212482.4):c.2449A>C (p.T817P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000280853" "0" "10" "2" "216272819" "216272819" "subst" "0.608591" "02325" "FN1_000020" "g.216272819C>G" "" "" "" "FN1(NM_212482.4):c.2518+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215408096C>G" "" "benign" "" "0000280854" "0" "10" "2" "216300482" "216300482" "subst" "0.756453" "02325" "FN1_000031" "g.216300482T>A" "" "" "" "FN1(NM_212482.4):c.44A>T (p.Q15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215435759T>A" "" "benign" "" "0000280855" "0" "10" "2" "216235089" "216235089" "subst" "0.99998" "02325" "FN1_000012" "g.216235089C>T" "" "" "" "FN1(NM_212482.4):c.6781G>A (p.V2261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000284063" "0" "10" "2" "216274874" "216274875" "del" "0" "02326" "FN1_000024" "g.216274874_216274875del" "" "" "" "FN1(NM_212482.2):c.1942-18_1942-17delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215410151_215410152del" "" "benign" "" "0000284064" "0" "10" "2" "216274874" "216274875" "dup" "0" "02326" "FN1_000025" "g.216274874_216274875dup" "" "" "" "FN1(NM_212482.2):c.1942-18_1942-17dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215410151_215410152dup" "" "benign" "" "0000284065" "0" "10" "2" "216269033" "216269033" "subst" "0" "02326" "FN1_000019" "g.216269033T>G" "" "" "" "FN1(NM_212482.2):c.3253+79A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215404310T>G" "" "benign" "" "0000284066" "0" "10" "2" "216240296" "216240296" "subst" "0" "02326" "FN1_000015" "g.216240296C>T" "" "" "" "FN1(NM_212482.2):c.5977+56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215375573C>T" "" "benign" "" "0000284067" "0" "10" "2" "216236712" "216236712" "subst" "0.0157868" "02326" "FN1_000014" "g.216236712T>C" "" "" "" "FN1(NM_212482.2):c.6634A>G (p.I2212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215371989T>C" "" "benign" "" "0000284068" "0" "10" "2" "216235242" "216235242" "subst" "0" "02326" "FN1_000013" "g.216235242T>G" "" "" "" "FN1(NM_212482.2):c.6715-87A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215370519T>G" "" "benign" "" "0000284069" "0" "10" "2" "216235046" "216235046" "subst" "0.00836548" "02326" "FN1_000011" "g.216235046C>T" "" "" "" "FN1(NM_212482.2):c.6824G>A (p.R2275Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215370323C>T" "" "benign" "" "0000284070" "0" "10" "2" "216234988" "216234988" "subst" "0.00235997" "02326" "FN1_000010" "g.216234988C>T" "" "" "" "FN1(NM_212482.2):c.6853+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215370265C>T" "" "benign" "" "0000287825" "0" "30" "2" "216274718" "216274718" "subst" "3.65521E-5" "01943" "FN1_000023" "g.216274718G>A" "" "" "" "FN1(NM_212482.2):c.2061C>T (p.Y687=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215409995G>A" "" "likely benign" "" "0000287826" "0" "30" "2" "216259405" "216259405" "subst" "2.84333E-5" "01943" "FN1_000018" "g.216259405G>A" "" "" "" "FN1(NM_212482.2):c.3642C>T (p.N1214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215394682G>A" "" "likely benign" "" "0000287827" "0" "10" "2" "216251538" "216251538" "subst" "0.00474386" "01943" "FN1_000016" "g.216251538G>A" "" "" "" "FN1(NM_212482.2):c.4486C>T (p.R1496W), FN1(NM_212482.4):c.4486C>T (p.R1496W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215386815G>A" "" "benign" "" "0000287828" "0" "50" "2" "216232707" "216232707" "subst" "0" "01943" "FN1_000009" "g.216232707G>C" "" "" "" "FN1(NM_212482.2):c.6897C>G (p.D2299E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215367984G>C" "" "VUS" "" "0000287829" "0" "50" "2" "216292996" "216292996" "subst" "0.00139289" "01943" "FN1_000028" "g.216292996T>A" "" "" "" "FN1(NM_212482.2):c.751A>T (p.N251Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215428273T>A" "" "VUS" "" "0000337490" "0" "10" "2" "216256344" "216256344" "subst" "0.036427" "02327" "FN1_000039" "g.216256344C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215391621C>G" "" "benign" "" "0000337491" "0" "10" "2" "216272819" "216272819" "subst" "0.608591" "02327" "FN1_000020" "g.216272819C>G" "" "" "" "FN1(NM_212482.4):c.2518+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215408096C>G" "" "benign" "" "0000339652" "0" "10" "2" "216229692" "216229692" "subst" "0.322677" "02327" "FN1_000032" "g.216229692A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215364969A>G" "" "benign" "" "0000339653" "0" "10" "2" "216242917" "216242917" "subst" "0.300449" "02327" "FN1_000035" "g.216242917T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215378194T>A" "" "benign" "" "0000339654" "0" "10" "2" "216249587" "216249587" "subst" "0.880034" "02327" "FN1_000036" "g.216249587C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215384864C>T" "" "benign" "" "0000339656" "0" "10" "2" "216269209" "216269209" "subst" "0.36132" "02327" "FN1_000041" "g.216269209T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215404486T>G" "" "benign" "" "0000339657" "0" "10" "2" "216269254" "216269254" "subst" "0.361519" "02327" "FN1_000042" "g.216269254T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215404531T>G" "" "benign" "" "0000339658" "0" "10" "2" "216272907" "216272907" "subst" "0.352267" "02327" "FN1_000022" "g.216272907A>T" "" "" "" "FN1(NM_212482.4):c.2442T>A (p.P814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215408184A>T" "" "benign" "" "0000339659" "0" "10" "2" "216288984" "216288984" "subst" "0.0050149" "02327" "FN1_000048" "g.216288984A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215424261A>G" "" "benign" "" "0000340815" "0" "10" "2" "216298084" "216298084" "subst" "0.178814" "02327" "FN1_000050" "g.216298084G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215433361G>A" "" "benign" "" "0000344320" "0" "50" "2" "216295448" "216295448" "subst" "0" "02327" "FN1_000004" "g.216295448G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215430725G>C" "" "VUS" "" "0000344587" "0" "10" "2" "216300482" "216300482" "subst" "0.756453" "02327" "FN1_000031" "g.216300482T>A" "" "" "" "FN1(NM_212482.4):c.44A>T (p.Q15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215435759T>A" "" "benign" "" "0000345241" "0" "50" "2" "216236916" "216236916" "subst" "4.06279E-6" "02327" "FN1_000033" "g.216236916C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215372193C>T" "" "VUS" "" "0000348519" "0" "50" "2" "216283983" "216283983" "subst" "0" "02327" "FN1_000047" "g.216283983G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215419260G>C" "" "VUS" "" "0000349610" "0" "50" "2" "216274674" "216274674" "subst" "0" "02327" "FN1_000046" "g.216274674G>A" "" "" "" "FN1(NM_212482.2):c.2105C>T (p.T702I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215409951G>A" "" "VUS" "" "0000350308" "0" "30" "2" "216300486" "216300486" "subst" "0.000745049" "02327" "FN1_000051" "g.216300486C>G" "" "" "" "FN1(NM_212482.2):c.40G>C (p.V14L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215435763C>G" "" "likely benign" "" "0000350403" "0" "10" "2" "216235089" "216235089" "subst" "0.99998" "02327" "FN1_000012" "g.216235089C>T" "" "" "" "FN1(NM_212482.4):c.6781G>A (p.V2261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000351027" "0" "10" "2" "216251697" "216251697" "subst" "0.317107" "02327" "FN1_000037" "g.216251697G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215386974G>A" "" "benign" "" "0000351028" "0" "10" "2" "216253039" "216253039" "subst" "0.547499" "02327" "FN1_000038" "g.216253039G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215388316G>C" "" "benign" "" "0000351029" "0" "10" "2" "216269095" "216269095" "subst" "0.361092" "02327" "FN1_000040" "g.216269095C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215404372C>T" "" "benign" "" "0000351030" "0" "30" "2" "216271243" "216271243" "subst" "4.08764E-6" "02327" "FN1_000044" "g.216271243A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215406520A>G" "" "likely benign" "" "0000351031" "0" "10" "2" "216283958" "216283958" "subst" "0.33412" "02327" "FN1_000026" "g.216283958T>A" "" "" "" "FN1(NM_212482.4):c.1819+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215419235T>A" "" "benign" "" "0000351032" "0" "30" "2" "216296537" "216296537" "subst" "0.000954299" "02327" "FN1_000049" "g.216296537A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215431814A>G" "" "likely benign" "" "0000351033" "0" "10" "2" "216299550" "216299550" "subst" "0.333114" "02327" "FN1_000029" "g.216299550G>A" "" "" "" "FN1(NM_212482.4):c.149-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215434827G>A" "" "benign" "" "0000351034" "0" "10" "2" "216299551" "216299551" "subst" "0.333125" "02327" "FN1_000030" "g.216299551C>A" "" "" "" "FN1(NM_212482.4):c.149-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215434828C>A" "" "benign" "" "0000354839" "0" "00" "2" "0" "0" "" "0" "00687" "SNRNP200_000007" "g.?" "" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "" "A1448G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000514498" "0" "50" "2" "216232622" "216232622" "subst" "1.62549E-5" "02327" "FN1_000053" "g.216232622C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215367899C>T" "" "VUS" "" "0000514499" "0" "30" "2" "216235079" "216235079" "subst" "0" "02327" "FN1_000054" "g.216235079T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215370356T>A" "" "likely benign" "" "0000514502" "0" "30" "2" "216251538" "216251538" "subst" "0.00474386" "02325" "FN1_000016" "g.216251538G>A" "" "" "" "FN1(NM_212482.2):c.4486C>T (p.R1496W), FN1(NM_212482.4):c.4486C>T (p.R1496W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215386815G>A" "" "likely benign" "" "0000514503" "0" "50" "2" "216253015" "216253015" "subst" "3.2514E-5" "01804" "FN1_000057" "g.216253015G>C" "" "" "" "FN1(NM_002026.2):c.3989C>G (p.(Pro1330Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215388292G>C" "" "VUS" "" "0000514504" "0" "30" "2" "216257690" "216257690" "subst" "0.000142377" "01804" "FN1_000058" "g.216257690C>T" "" "" "" "FN1(NM_212482.1):c.4033G>A (p.(Gly1345Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215392967C>T" "" "likely benign" "" "0000514506" "0" "10" "2" "216274441" "216274441" "subst" "0.000747961" "02326" "FN1_000060" "g.216274441G>A" "" "" "" "FN1(NM_212482.2):c.2144C>T (p.T715M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215409718G>A" "" "benign" "" "0000514507" "0" "30" "2" "216274647" "216274647" "subst" "6.90546E-5" "01943" "FN1_000061" "g.216274647G>A" "" "" "" "FN1(NM_212482.2):c.2122+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215409924G>A" "" "likely benign" "" "0000514508" "0" "50" "2" "216288139" "216288139" "subst" "0" "02327" "FN1_000062" "g.216288139T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215423416T>G" "" "VUS" "" "0000514509" "0" "50" "2" "216288257" "216288257" "subst" "4.07053E-6" "01804" "FN1_000063" "g.216288257G>T" "" "" "" "FN1(NM_212482.4):c.1217-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215423534G>T" "" "VUS" "" "0000514510" "0" "50" "2" "216295470" "216295470" "subst" "0" "01943" "FN1_000064" "g.216295470T>G" "" "" "" "FN1(NM_212482.2):c.653A>C (p.E218A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215430747T>G" "" "VUS" "" "0000514511" "0" "50" "2" "216295478" "216295478" "subst" "0" "02327" "FN1_000065" "g.216295478G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215430755G>C" "" "VUS" "" "0000514512" "0" "50" "2" "216298058" "216298058" "subst" "0" "02327" "FN1_000066" "g.216298058C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215433335C>T" "" "VUS" "" "0000607476" "0" "30" "2" "216289015" "216289015" "subst" "0.00240445" "01943" "FN1_000068" "g.216289015C>T" "" "" "" "FN1(NM_212482.2):c.1070G>A (p.G357E), FN1(NM_212482.4):c.1070G>A (p.G357E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215424292C>T" "" "likely benign" "" "0000620960" "0" "30" "2" "216236623" "216236623" "subst" "8.1279E-6" "01943" "FN1_000067" "g.216236623A>G" "" "" "" "FN1(NM_212482.2):c.6714+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215371900A>G" "" "likely benign" "" "0000650441" "1" "90" "2" "216269314" "216269314" "subst" "0" "03575" "FN1_000069" "g.216269314C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044906}" "Germline" "" "rs797044906" "0" "" "" "g.215404591C>A" "" "pathogenic" "" "0000654556" "0" "30" "2" "216289015" "216289015" "subst" "0.00240445" "02325" "FN1_000068" "g.216289015C>T" "" "" "" "FN1(NM_212482.2):c.1070G>A (p.G357E), FN1(NM_212482.4):c.1070G>A (p.G357E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215424292C>T" "" "likely benign" "" "0000676496" "0" "30" "2" "216240047" "216240047" "subst" "0.000337174" "02326" "FN1_000070" "g.216240047G>A" "" "" "" "FN1(NM_212482.2):c.6047C>T (p.P2016L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676497" "0" "30" "2" "216244047" "216244047" "subst" "0.000638113" "01943" "FN1_000071" "g.216244047A>G" "" "" "" "FN1(NM_212482.2):c.5435-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676498" "0" "30" "2" "216274455" "216274455" "subst" "0.0010369" "01943" "FN1_000072" "g.216274455G>A" "" "" "" "FN1(NM_212482.2):c.2130C>T (p.T710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676499" "0" "50" "2" "216274674" "216274674" "subst" "0" "01943" "FN1_000046" "g.216274674G>A" "" "" "" "FN1(NM_212482.2):c.2105C>T (p.T702I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676500" "0" "30" "2" "216300405" "216300405" "subst" "0.00119532" "01804" "FN1_000073" "g.216300405A>C" "" "" "" "FN1(NM_002026.2):c.121T>G (p.(Ser41Ala)), FN1(NM_212482.2):c.121T>G (p.S41A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688638" "0" "30" "2" "216235029" "216235029" "subst" "0.00095836" "02326" "FN1_000074" "g.216235029C>T" "" "" "" "FN1(NM_212482.2):c.6841G>A (p.V2281M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688639" "0" "30" "2" "216300472" "216300472" "subst" "0.00140492" "02326" "FN1_000075" "g.216300472C>G" "" "" "" "FN1(NM_212482.2):c.54G>C (p.G18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718467" "0" "30" "2" "216232579" "216232579" "subst" "0.00207516" "02326" "FN1_000008" "g.216232579T>C" "" "" "" "FN1(NM_212482.2):c.7018+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718468" "0" "30" "2" "216284009" "216284009" "subst" "0.00298581" "02326" "FN1_000076" "g.216284009C>T" "" "" "" "FN1(NM_212482.2):c.1775G>A (p.R592H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718469" "0" "30" "2" "216289015" "216289015" "subst" "0.00240445" "02326" "FN1_000068" "g.216289015C>T" "" "" "" "FN1(NM_212482.2):c.1070G>A (p.G357E), FN1(NM_212482.4):c.1070G>A (p.G357E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718470" "0" "10" "2" "216292996" "216292996" "subst" "0.00139289" "02326" "FN1_000028" "g.216292996T>A" "" "" "" "FN1(NM_212482.2):c.751A>T (p.N251Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000763765" "0" "50" "2" "216251580" "216251580" "subst" "0.000431122" "00000" "FN1_000077" "g.216251580G>A" "" "{PMID:Duvvari 2016:27007659}" "" "4171G>A" "" "Germline" "" "rs116558455" "0" "" "" "g.215386857G>A" "" "VUS" "" "0000800358" "0" "30" "2" "216226780" "216226780" "subst" "0.000353469" "02326" "FN1_000078" "g.216226780C>T" "" "" "" "FN1(NM_212482.2):c.7274G>A (p.R2425H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800359" "0" "30" "2" "216232681" "216232681" "subst" "0.00121844" "02326" "FN1_000079" "g.216232681A>G" "" "" "" "FN1(NM_212482.2):c.6923T>C (p.V2308A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800360" "0" "50" "2" "216242976" "216242976" "subst" "1.22274E-5" "01943" "FN1_000080" "g.216242976T>G" "" "" "" "FN1(NM_212482.2):c.5632A>C (p.K1878Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800361" "0" "30" "2" "216245577" "216245577" "subst" "5.69416E-5" "01943" "FN1_000081" "g.216245577G>A" "" "" "" "FN1(NM_212482.2):c.5391C>T (p.H1797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800362" "0" "30" "2" "216256461" "216256461" "subst" "0.000736012" "02326" "FN1_000082" "g.216256461T>C" "" "" "" "FN1(NM_212482.2):c.4146A>G (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800363" "0" "70" "2" "216256465" "216256465" "subst" "0" "02326" "FN1_000083" "g.216256465G>C" "" "" "" "FN1(NM_212482.2):c.4142C>G (p.P1381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800364" "0" "30" "2" "216285470" "216285470" "subst" "0.000207189" "02326" "FN1_000084" "g.216285470C>T" "" "" "" "FN1(NM_212482.2):c.1601G>A (p.R534H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800365" "0" "30" "2" "216295532" "216295532" "subst" "0.000755336" "02326" "FN1_000085" "g.216295532G>T" "" "" "" "FN1(NM_212482.2):c.591C>A (p.V197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849707" "0" "50" "2" "216295485" "216295485" "subst" "0" "01943" "FN1_000093" "g.216295485C>T" "" "" "" "FN1(NM_212482.2):c.638G>A (p.C213Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849708" "0" "10" "2" "216300470" "216300470" "subst" "0.00261927" "02326" "FN1_000094" "g.216300470G>A" "" "" "" "FN1(NM_212482.2):c.56C>T (p.T19I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858303" "0" "30" "2" "216248738" "216248738" "subst" "0" "01943" "FN1_000086" "g.216248738T>C" "" "" "" "FN1(NM_212482.2):c.4894+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858304" "0" "30" "2" "216248748" "216248748" "subst" "8.12427E-6" "01943" "FN1_000087" "g.216248748C>T" "" "" "" "FN1(NM_212482.2):c.4889G>A (p.R1630Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858305" "0" "30" "2" "216256446" "216256446" "subst" "7.3213E-5" "02326" "FN1_000088" "g.216256446G>T" "" "" "" "FN1(NM_212482.2):c.4161C>A (p.T1387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858306" "0" "50" "2" "216262405" "216262405" "subst" "0" "01804" "FN1_000089" "g.216262405G>A" "" "" "" "FN1(NM_002026.2):c.3515C>T (p.(Thr1172Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858307" "0" "30" "2" "216264021" "216264021" "subst" "0.00399893" "02326" "FN1_000090" "g.216264021T>G" "" "" "" "FN1(NM_212482.2):c.3307A>C (p.I1103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858308" "0" "10" "2" "216269175" "216269175" "subst" "0.00036143" "02326" "FN1_000091" "g.216269175C>T" "" "" "" "FN1(NM_212482.2):c.3190G>A (p.V1064I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858309" "0" "30" "2" "216271243" "216271244" "del" "0.00332829" "02326" "FN1_000092" "g.216271243_216271244del" "" "" "" "FN1(NM_212482.2):c.2714-11_2714-10delTT, FN1(NM_212482.4):c.2714-11_2714-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858310" "0" "70" "2" "216295485" "216295485" "subst" "0" "02327" "FN1_000093" "g.216295485C>T" "" "" "" "FN1(NM_212482.2):c.638G>A (p.C213Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884850" "0" "30" "2" "216235004" "216235004" "subst" "0.000211185" "02326" "FN1_000095" "g.216235004C>T" "" "" "" "FN1(NM_212482.2):c.6853+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884851" "0" "50" "2" "216247034" "216247034" "dup" "0" "02327" "FN1_000096" "g.216247034dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884852" "0" "30" "2" "216251538" "216251538" "subst" "0.00474386" "02326" "FN1_000016" "g.216251538G>A" "" "" "" "FN1(NM_212482.2):c.4486C>T (p.R1496W), FN1(NM_212482.4):c.4486C>T (p.R1496W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884853" "0" "30" "2" "216257815" "216257815" "subst" "9.75396E-5" "02326" "FN1_000097" "g.216257815A>G" "" "" "" "FN1(NM_212482.2):c.3908T>C (p.V1303A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884854" "0" "30" "2" "216261851" "216261851" "subst" "0.00168326" "02326" "FN1_000098" "g.216261851C>T" "" "" "" "FN1(NM_212482.2):c.3604+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884855" "0" "30" "2" "216269176" "216269176" "subst" "0.00165294" "02326" "FN1_000099" "g.216269176G>A" "" "" "" "FN1(NM_212482.2):c.3189C>T (p.T1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884856" "0" "30" "2" "216271971" "216271971" "subst" "0.00278297" "02326" "FN1_000100" "g.216271971G>A" "" "" "" "FN1(NM_212482.2):c.2592C>T (p.S864=), FN1(NM_212482.4):c.2592C>T (p.(Ser864=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884857" "0" "30" "2" "216274456" "216274456" "subst" "0.00131758" "02326" "FN1_000101" "g.216274456G>A" "" "" "" "FN1(NM_212482.2):c.2129C>T (p.T710I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884858" "0" "30" "2" "216286830" "216286830" "subst" "0.00229034" "02326" "FN1_000102" "g.216286830G>A" "" "" "" "FN1(NM_212482.2):c.1530C>T (p.A510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884859" "0" "30" "2" "216286935" "216286935" "subst" "0.00230671" "02326" "FN1_000103" "g.216286935C>G" "" "" "" "FN1(NM_212482.2):c.1425G>C (p.G475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884860" "0" "30" "2" "216296704" "216296704" "subst" "0.00317191" "02326" "FN1_000104" "g.216296704G>A" "" "" "" "FN1(NM_212482.2):c.416-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884861" "0" "10" "2" "216300405" "216300405" "subst" "0.00119532" "02326" "FN1_000073" "g.216300405A>C" "" "" "" "FN1(NM_002026.2):c.121T>G (p.(Ser41Ala)), FN1(NM_212482.2):c.121T>G (p.S41A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000884862" "0" "30" "2" "216300486" "216300486" "subst" "0.000745049" "02326" "FN1_000051" "g.216300486C>G" "" "" "" "FN1(NM_212482.2):c.40G>C (p.V14L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911566" "0" "30" "2" "216249686" "216249686" "subst" "5.69745E-5" "02326" "FN1_000105" "g.216249686C>T" "" "" "" "FN1(NM_212482.2):c.4626G>A (p.P1542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911567" "0" "30" "2" "216257886" "216257886" "subst" "0.00170431" "02326" "FN1_000106" "g.216257886G>A" "" "" "" "FN1(NM_212482.2):c.3837C>T (p.T1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911568" "0" "30" "2" "216262400" "216262400" "subst" "0.000178782" "02326" "FN1_000107" "g.216262400T>C" "" "" "" "FN1(NM_212482.2):c.3517+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911569" "0" "30" "2" "216271175" "216271175" "subst" "7.31666E-5" "02326" "FN1_000108" "g.216271175G>A" "" "" "" "FN1(NM_212482.2):c.2772C>T (p.T924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911570" "0" "30" "2" "216285445" "216285445" "subst" "0.00104806" "02326" "FN1_000109" "g.216285445G>A" "" "" "" "FN1(NM_212482.2):c.1626C>T (p.N542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911571" "0" "50" "2" "216298161" "216298161" "subst" "0" "02327" "FN1_000110" "g.216298161A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911572" "0" "30" "2" "216299497" "216299497" "subst" "0.00129131" "02326" "FN1_000111" "g.216299497G>T" "" "" "" "FN1(NM_212482.2):c.199C>A (p.R67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923602" "0" "30" "2" "216253020" "216253020" "subst" "0.000670634" "02326" "FN1_000112" "g.216253020G>A" "" "" "" "FN1(NM_212482.2):c.4257C>T (p.L1419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923603" "0" "30" "2" "216274324" "216274324" "subst" "4.06171E-6" "02327" "FN1_000113" "g.216274324T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923604" "0" "30" "2" "216274455" "216274455" "subst" "0.0010369" "02326" "FN1_000072" "g.216274455G>A" "" "" "" "FN1(NM_212482.2):c.2130C>T (p.T710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928515" "0" "50" "2" "216261925" "216261925" "subst" "4.06197E-6" "02326" "FN1_000114" "g.216261925A>G" "" "" "" "FN1(NM_212482.2):c.3539T>C (p.L1180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933941" "0" "70" "2" "216296559" "216296568" "delins" "0" "03779" "FN1_000115" "g.216296559_216296568delinsG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000936285" "0" "50" "2" "216251421" "216251421" "subst" "3.25325E-5" "00006" "FN1_000116" "g.216251421G>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_212482:c.C4603A (Q1535K)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000947743" "0" "30" "2" "216240365" "216240365" "subst" "0.000459335" "02326" "FN1_000117" "g.216240365G>A" "" "" "" "FN1(NM_212482.2):c.5964C>T (p.I1988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947744" "0" "30" "2" "216269247" "216269247" "subst" "0.00123863" "02326" "FN1_000059" "g.216269247T>C" "" "" "" "FN1(NM_212482.2):c.3118A>G (p.R1040G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961880" "0" "30" "2" "216226368" "216226368" "subst" "0.000393727" "02326" "FN1_000118" "g.216226368G>A" "" "" "" "FN1(NM_212482.2):c.7363-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961881" "0" "30" "2" "216241347" "216241347" "subst" "9.34086E-5" "02326" "FN1_000119" "g.216241347T>A" "" "" "" "FN1(NM_212482.2):c.5761A>T (p.I1921F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974950" "0" "50" "2" "216226286" "216226286" "subst" "4.06151E-6" "01804" "FN1_000120" "g.216226286G>A" "" "" "" "FN1(NM_212482.4):c.7426C>T (p.(Arg2476Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974951" "0" "30" "2" "216243897" "216243897" "subst" "8.12658E-6" "01804" "FN1_000121" "g.216243897T>G" "" "" "" "FN1(NM_212482.4):c.5578A>C (p.(Asn1860His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974952" "0" "50" "2" "216257812" "216257812" "subst" "8.12916E-6" "01804" "FN1_000122" "g.216257812G>A" "" "" "" "FN1(NM_212482.4):c.3911C>T (p.(Ala1304Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974953" "0" "30" "2" "216261932" "216261932" "subst" "0.000649936" "02326" "FN1_000123" "g.216261932T>C" "" "" "" "FN1(NM_212482.2):c.3532A>G (p.T1178A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974954" "0" "10" "2" "216271243" "216271244" "del" "0.00332829" "01804" "FN1_000092" "g.216271243_216271244del" "" "" "" "FN1(NM_212482.2):c.2714-11_2714-10delTT, FN1(NM_212482.4):c.2714-11_2714-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974955" "0" "30" "2" "216271971" "216271971" "subst" "0.00278297" "01804" "FN1_000100" "g.216271971G>A" "" "" "" "FN1(NM_212482.2):c.2592C>T (p.S864=), FN1(NM_212482.4):c.2592C>T (p.(Ser864=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974956" "0" "30" "2" "216273036" "216273036" "subst" "0.000190934" "02326" "FN1_000124" "g.216273036T>C" "" "" "" "FN1(NM_212482.2):c.2413A>G (p.T805A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974957" "0" "30" "2" "216279697" "216279697" "subst" "0.000142533" "02326" "FN1_000125" "g.216279697T>C" "" "" "" "FN1(NM_212482.2):c.1820-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992479" "0" "50" "2" "216237041" "216237041" "subst" "0" "01804" "FN1_000126" "g.216237041A>G" "" "" "" "FN1(NM_212482.1):c.6305T>C (p.(Leu2102Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992480" "0" "50" "2" "216240351" "216240351" "subst" "0" "01804" "FN1_000127" "g.216240351C>T" "" "" "" "FN1(NM_212482.1):c.5977+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992481" "0" "30" "2" "216245800" "216245800" "subst" "0" "01804" "FN1_000128" "g.216245800A>G" "" "" "" "FN1(NM_212482.1):c.5168T>C (p.(Ile1723Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992482" "0" "30" "2" "216251462" "216251462" "subst" "6.50697E-5" "02326" "FN1_000129" "g.216251462G>C" "" "" "" "FN1(NM_212482.2):c.4562C>G (p.A1521G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992483" "0" "30" "2" "216251580" "216251580" "subst" "0.000431122" "02326" "FN1_000077" "g.216251580G>A" "" "" "" "FN1(NM_212482.2):c.4444C>T (p.R1482C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992484" "0" "30" "2" "216257813" "216257813" "subst" "3.25113E-5" "01804" "FN1_000130" "g.216257813C>T" "" "" "" "FN1(NM_212482.1):c.3910G>A (p.(Ala1304Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992485" "0" "30" "2" "216259409" "216259409" "subst" "0" "01804" "FN1_000131" "g.216259409G>C" "" "" "" "FN1(NM_212482.1):c.3638C>G (p.(Thr1213Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992486" "0" "50" "2" "216262496" "216262496" "subst" "4.06266E-6" "01804" "FN1_000132" "g.216262496C>T" "" "" "" "FN1(NM_212482.1):c.3424G>A (p.(Gly1142Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992487" "0" "50" "2" "216264039" "216264039" "subst" "2.84483E-5" "01804" "FN1_000133" "g.216264039C>T" "" "" "" "FN1(NM_212482.1):c.3289G>A (p.(Glu1097Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992488" "0" "10" "2" "216274872" "216274875" "dup" "0" "02326" "FN1_000134" "g.216274872_216274875dup" "" "" "" "FN1(NM_212482.2):c.1942-22_1942-19dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992489" "0" "50" "2" "216284010" "216284010" "subst" "4.06237E-6" "01804" "FN1_000135" "g.216284010G>A" "" "" "" "FN1(NM_212482.1):c.1774C>T (p.(Arg592Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992490" "0" "50" "2" "216285459" "216285459" "subst" "4.0626E-6" "01804" "FN1_000136" "g.216285459C>A" "" "" "" "FN1(NM_212482.1):c.1612G>T (p.(Gly538Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992491" "0" "50" "2" "216288247" "216288247" "subst" "0" "01804" "FN1_000137" "g.216288247A>C" "" "" "" "FN1(NM_212482.1):c.1219T>G (p.(Leu407Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011767" "0" "70" "2" "216296604" "216296604" "subst" "0" "03779" "FN1_000138" "g.216296604A>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001024518" "0" "50" "2" "216246992" "216246992" "subst" "8.14021E-6" "02327" "FN1_000139" "g.216246992C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024519" "0" "30" "2" "216251667" "216251667" "subst" "0.000297949" "02326" "FN1_000140" "g.216251667T>C" "" "" "" "FN1(NM_212482.2):c.4357A>G (p.T1453A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024520" "0" "30" "2" "216259456" "216259460" "del" "0" "02326" "FN1_000141" "g.216259456_216259460del" "" "" "" "FN1(NM_212482.2):c.3605-13_3605-9delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032949" "0" "30" "2" "216229655" "216229655" "subst" "0" "01804" "FN1_000142" "g.216229655G>C" "" "" "" "FN1(NM_212482.4):c.7198C>G (p.(Gln2400Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032950" "0" "30" "2" "216239933" "216239933" "subst" "3.2496E-5" "01804" "FN1_000143" "g.216239933A>G" "" "" "" "FN1(NM_212482.4):c.6157+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032951" "0" "50" "2" "216240361" "216240361" "subst" "2.0328E-5" "01804" "FN1_000144" "g.216240361C>T" "" "" "" "FN1(NM_212482.4):c.5968G>A (p.(Ala1990Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032952" "0" "30" "2" "216242995" "216242995" "subst" "8.17889E-6" "01804" "FN1_000145" "g.216242995T>C" "" "" "" "FN1(NM_212482.4):c.5623-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032953" "0" "50" "2" "216244039" "216244039" "subst" "0" "01804" "FN1_000146" "g.216244039A>G" "" "" "" "FN1(NM_212482.4):c.5436T>C (p.(Ala1812=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032954" "0" "50" "2" "216245755" "216245755" "subst" "0" "01804" "FN1_000147" "g.216245755G>A" "" "" "" "FN1(NM_212482.4):c.5213C>T (p.(Ser1738Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032955" "0" "30" "2" "216248044" "216248044" "subst" "0" "01804" "FN1_000148" "g.216248044T>G" "" "" "" "FN1(NM_212482.4):c.5050+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032956" "0" "30" "2" "216257770" "216257770" "subst" "9.34807E-5" "01804" "FN1_000149" "g.216257770G>C" "" "" "" "FN1(NM_212482.4):c.3953C>G (p.(Ser1318Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032957" "0" "30" "2" "216262556" "216262556" "subst" "0.000296613" "01804" "FN1_000150" "g.216262556T>G" "" "" "" "FN1(NM_212482.4):c.3364A>C (p.(Ser1122Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032958" "0" "30" "2" "216272860" "216272860" "subst" "1.62536E-5" "02326" "FN1_000151" "g.216272860C>T" "" "" "" "FN1(NM_212482.2):c.2489G>A (p.R830H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032959" "0" "50" "2" "216272884" "216272884" "subst" "3.65657E-5" "01804" "FN1_000152" "g.216272884A>G" "" "" "" "FN1(NM_212482.4):c.2465T>C (p.(Val822Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032960" "0" "30" "2" "216285401" "216285401" "subst" "4.06161E-6" "01804" "FN1_000153" "g.216285401G>A" "" "" "" "FN1(NM_212482.4):c.1670C>T (p.(Pro557Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032961" "0" "30" "2" "216286825" "216286825" "subst" "1.21831E-5" "01804" "FN1_000154" "g.216286825G>A" "" "" "" "FN1(NM_212482.4):c.1535C>T (p.(Ser512Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032962" "0" "50" "2" "216289921" "216289921" "subst" "4.06108E-6" "01804" "FN1_000155" "g.216289921T>A" "" "" "" "FN1(NM_212482.4):c.932A>T (p.(Asp311Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032963" "0" "50" "2" "216292957" "216292957" "subst" "0" "01804" "FN1_000156" "g.216292957C>T" "" "" "" "FN1(NM_212482.4):c.790G>A (p.(Gly264Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045806" "0" "10" "2" "216229671" "216229671" "subst" "0.00265949" "02326" "FN1_000157" "g.216229671G>A" "" "" "" "FN1(NM_212482.2):c.7182C>T (p.H2394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 FN1 ## Count = 174 "{{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}}" "0000169344" "00025238" "00" "1897" "0" "1897" "0" "c.1897C>G" "r.(?)" "p.(Pro633Ala)" "" "0000241145" "00025238" "90" "260" "0" "260" "0" "c.260G>T" "r.(?)" "p.(Cys87Phe)" "" "0000241146" "00025238" "90" "367" "0" "367" "0" "c.367T>C" "r.(?)" "p.(Cys123Arg)" "" "0000241147" "00025238" "90" "675" "0" "675" "0" "c.675C>G" "r.(?)" "p.(Cys225Trp)" "" "0000241148" "00025238" "90" "718" "0" "718" "0" "c.718T>G" "r.(?)" "p.(Tyr240Asp)" "" "0000241149" "00025238" "90" "778" "0" "778" "0" "c.778T>G" "r.(?)" "p.(Cys260Gly)" "" "0000241150" "00025238" "90" "2425" "0" "2427" "0" "c.2425_2427del" "r.(?)" "p.(Thr809del)" "" "0000241151" "00025238" "90" "367" "0" "367" "0" "c.367T>C" "r.(?)" "p.(Cys123Arg)" "" "0000248506" "00025238" "10" "2442" "0" "2442" "0" "c.2442T>A" "r.(?)" "p.(Pro814=)" "" "0000251273" "00025238" "10" "3797" "-24" "3797" "-24" "c.3797-24T>C" "r.(=)" "p.(=)" "" "0000251274" "00025238" "10" "1676" "-177" "1676" "-177" "c.1676-177del" "r.(=)" "p.(=)" "" "0000280849" "00025238" "10" "149" "-3" "149" "-3" "c.149-3C>T" "r.spl?" "p.?" "" "0000280850" "00025238" "10" "149" "-4" "149" "-4" "c.149-4G>T" "r.spl?" "p.?" "" "0000280851" "00025238" "10" "1819" "7" "1819" "7" "c.1819+7A>T" "r.(=)" "p.(=)" "" "0000280852" "00025238" "10" "2449" "0" "2449" "0" "c.2449=" "r.(=)" "p.(Pro817=)" "" "0000280853" "00025238" "10" "2518" "12" "2518" "12" "c.2518+12G>C" "r.(=)" "p.(=)" "" "0000280854" "00025238" "10" "44" "0" "44" "0" "c.44A>T" "r.(?)" "p.(Gln15Leu)" "" "0000280855" "00025238" "10" "6781" "0" "6781" "0" "c.6781=" "r.(=)" "p.(Ile2261=)" "" "0000284063" "00025238" "10" "1942" "-18" "1942" "-17" "c.1942-18_1942-17del" "r.(=)" "p.(=)" "" "0000284064" "00025238" "10" "1942" "-18" "1942" "-17" "c.1942-18_1942-17dup" "r.(=)" "p.(=)" "" "0000284065" "00025238" "10" "3253" "79" "3253" "79" "c.3253+79A>C" "r.(=)" "p.(=)" "" "0000284066" "00025238" "10" "5977" "56" "5977" "56" "c.5977+56G>A" "r.(=)" "p.(=)" "" "0000284067" "00025238" "10" "6634" "0" "6634" "0" "c.6634A>G" "r.(?)" "p.(Ile2212Val)" "" "0000284068" "00025238" "10" "6715" "-87" "6715" "-87" "c.6715-87A>C" "r.(=)" "p.(=)" "" "0000284069" "00025238" "10" "6824" "0" "6824" "0" "c.6824G>A" "r.(?)" "p.(Arg2275Gln)" "" "0000284070" "00025238" "10" "6853" "29" "6853" "29" "c.6853+29G>A" "r.(=)" "p.(=)" "" "0000287825" "00025238" "30" "2061" "0" "2061" "0" "c.2061C>T" "r.(?)" "p.(Tyr687=)" "" "0000287826" "00025238" "30" "3642" "0" "3642" "0" "c.3642C>T" "r.(?)" "p.(Asn1214=)" "" "0000287827" "00025238" "10" "4486" "0" "4486" "0" "c.4486C>T" "r.(?)" "p.(Arg1496Trp)" "" "0000287828" "00025238" "50" "6897" "0" "6897" "0" "c.6897C>G" "r.(?)" "p.(Asp2299Glu)" "" "0000287829" "00025238" "50" "751" "0" "751" "0" "c.751A>T" "r.(?)" "p.(Asn251Tyr)" "" "0000337490" "00025238" "10" "4252" "11" "4252" "11" "c.4252+11G>C" "r.(=)" "p.(=)" "" "0000337491" "00025238" "10" "2518" "12" "2518" "12" "c.2518+12G>C" "r.(=)" "p.(=)" "" "0000339652" "00025238" "10" "7161" "0" "7161" "0" "c.7161T>C" "r.(?)" "p.(Tyr2387=)" "" "0000339653" "00025238" "10" "5691" "0" "5691" "0" "c.5691A>T" "r.(?)" "p.(Gly1897=)" "" "0000339654" "00025238" "10" "4725" "0" "4725" "0" "c.4725G>A" "r.(?)" "p.(Glu1575=)" "" "0000339656" "00025238" "10" "3156" "0" "3156" "0" "c.3156A>C" "r.(?)" "p.(Pro1052=)" "" "0000339657" "00025238" "10" "3111" "0" "3111" "0" "c.3111A>C" "r.(?)" "p.(Gly1037=)" "" "0000339658" "00025238" "10" "2442" "0" "2442" "0" "c.2442T>A" "r.(?)" "p.(Pro814=)" "" "0000339659" "00025238" "10" "1101" "0" "1101" "0" "c.1101T>C" "r.(?)" "p.(Asn367=)" "" "0000340815" "00025238" "10" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Ile126=)" "" "0000344320" "00025238" "50" "675" "0" "675" "0" "c.675C>G" "r.(?)" "p.(Cys225Trp)" "" "0000344587" "00025238" "10" "44" "0" "44" "0" "c.44A>T" "r.(?)" "p.(Gln15Leu)" "" "0000345241" "00025238" "50" "6430" "0" "6430" "0" "c.6430G>A" "r.(?)" "p.(Glu2144Lys)" "" "0000348519" "00025238" "50" "1801" "0" "1801" "0" "c.1801C>G" "r.(?)" "p.(Pro601Ala)" "" "0000349610" "00025238" "50" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0000350308" "00025238" "30" "40" "0" "40" "0" "c.40G>C" "r.(?)" "p.(Val14Leu)" "" "0000350403" "00025238" "10" "6781" "0" "6781" "0" "c.6781=" "r.(=)" "p.(Ile2261=)" "" "0000351027" "00025238" "10" "4343" "-16" "4343" "-16" "c.4343-16C>T" "r.(=)" "p.(=)" "" "0000351028" "00025238" "10" "4253" "-15" "4253" "-15" "c.4253-15C>G" "r.(=)" "p.(=)" "" "0000351029" "00025238" "10" "3253" "17" "3253" "17" "c.3253+17G>A" "r.(=)" "p.(=)" "" "0000351030" "00025238" "30" "2714" "-10" "2714" "-10" "c.2714-10T>C" "r.(=)" "p.(=)" "" "0000351031" "00025238" "10" "1819" "7" "1819" "7" "c.1819+7A>T" "r.(=)" "p.(=)" "" "0000351032" "00025238" "30" "547" "19" "547" "19" "c.547+19T>C" "r.(=)" "p.(=)" "" "0000351033" "00025238" "10" "149" "-3" "149" "-3" "c.149-3C>T" "r.spl?" "p.?" "" "0000351034" "00025238" "10" "149" "-4" "149" "-4" "c.149-4G>T" "r.spl?" "p.?" "" "0000354839" "00025238" "00" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu483Arg()" "" "0000514498" "00025238" "50" "6982" "0" "6982" "0" "c.6982G>A" "r.(?)" "p.(Gly2328Ser)" "" "0000514499" "00025238" "30" "6791" "0" "6791" "0" "c.6791A>T" "r.(?)" "p.(Glu2264Val)" "" "0000514502" "00025238" "30" "4486" "0" "4486" "0" "c.4486C>T" "r.(?)" "p.(Arg1496Trp)" "" "0000514503" "00025238" "50" "4262" "0" "4262" "0" "c.4262C>G" "r.(?)" "p.(Pro1421Arg)" "" "0000514504" "00025238" "30" "4033" "0" "4033" "0" "c.4033G>A" "r.(?)" "p.(Gly1345Ser)" "" "0000514506" "00025238" "10" "2144" "0" "2144" "0" "c.2144C>T" "r.(?)" "p.(Thr715Met)" "" "0000514507" "00025238" "30" "2122" "10" "2122" "10" "c.2122+10C>T" "r.(=)" "p.(=)" "" "0000514508" "00025238" "50" "1327" "0" "1327" "0" "c.1327A>C" "r.(?)" "p.(Met443Leu)" "" "0000514509" "00025238" "50" "1217" "-8" "1217" "-8" "c.1217-8C>A" "r.(=)" "p.(=)" "" "0000514510" "00025238" "50" "653" "0" "653" "0" "c.653A>C" "r.(?)" "p.(Glu218Ala)" "" "0000514511" "00025238" "50" "645" "0" "645" "0" "c.645C>G" "r.(?)" "p.(Cys215Trp)" "" "0000514512" "00025238" "50" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Cys135Tyr)" "" "0000607476" "00025238" "30" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Glu)" "" "0000620960" "00025238" "30" "6714" "9" "6714" "9" "c.6714+9T>C" "r.(=)" "p.(=)" "" "0000650441" "00025238" "90" "3051" "0" "3051" "0" "c.3051G>T" "r.(?)" "p.(Trp1017Cys)" "" "0000654556" "00025238" "30" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Glu)" "" "0000676496" "00025238" "30" "6047" "0" "6047" "0" "c.6047C>T" "r.(?)" "p.(Pro2016Leu)" "" "0000676497" "00025238" "30" "5435" "-7" "5435" "-7" "c.5435-7T>C" "r.(=)" "p.(=)" "" "0000676498" "00025238" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Thr710=)" "" "0000676499" "00025238" "50" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0000676500" "00025238" "30" "121" "0" "121" "0" "c.121T>G" "r.(?)" "p.(Ser41Ala)" "" "0000688638" "00025238" "30" "6841" "0" "6841" "0" "c.6841G>A" "r.(?)" "p.(Val2281Met)" "" "0000688639" "00025238" "30" "54" "0" "54" "0" "c.54G>C" "r.(?)" "p.(Gly18=)" "" "0000718467" "00025238" "30" "7018" "7" "7018" "7" "c.7018+7A>G" "r.(=)" "p.(=)" "" "0000718468" "00025238" "30" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Arg592His)" "" "0000718469" "00025238" "30" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Glu)" "" "0000718470" "00025238" "10" "751" "0" "751" "0" "c.751A>T" "r.(?)" "p.(Asn251Tyr)" "" "0000763765" "00025238" "50" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Arg1482Cys)" "" "0000800358" "00025238" "30" "7274" "0" "7274" "0" "c.7274G>A" "r.(?)" "p.(Arg2425His)" "" "0000800359" "00025238" "30" "6923" "0" "6923" "0" "c.6923T>C" "r.(?)" "p.(Val2308Ala)" "" "0000800360" "00025238" "50" "5632" "0" "5632" "0" "c.5632A>C" "r.(?)" "p.(Lys1878Gln)" "" "0000800361" "00025238" "30" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(His1797=)" "" "0000800362" "00025238" "30" "4146" "0" "4146" "0" "c.4146A>G" "r.(?)" "p.(Pro1382=)" "" "0000800363" "00025238" "70" "4142" "0" "4142" "0" "c.4142C>G" "r.(?)" "p.(Pro1381Arg)" "" "0000800364" "00025238" "30" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534His)" "" "0000800365" "00025238" "30" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Val197=)" "" "0000849707" "00025238" "50" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "" "0000849708" "00025238" "10" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Ile)" "" "0000858303" "00025238" "30" "4894" "5" "4894" "5" "c.4894+5A>G" "r.spl?" "p.?" "" "0000858304" "00025238" "30" "4889" "0" "4889" "0" "c.4889G>A" "r.(?)" "p.(Arg1630Gln)" "" "0000858305" "00025238" "30" "4161" "0" "4161" "0" "c.4161C>A" "r.(?)" "p.(Thr1387=)" "" "0000858306" "00025238" "50" "3515" "0" "3515" "0" "c.3515C>T" "r.(?)" "p.(Thr1172Ile)" "" "0000858307" "00025238" "30" "3307" "0" "3307" "0" "c.3307A>C" "r.(?)" "p.(Ile1103Leu)" "" "0000858308" "00025238" "10" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Val1064Ile)" "" "0000858309" "00025238" "30" "2714" "-11" "2714" "-10" "c.2714-11_2714-10del" "r.(=)" "p.(=)" "" "0000858310" "00025238" "70" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "" "0000884850" "00025238" "30" "6853" "13" "6853" "13" "c.6853+13G>A" "r.(=)" "p.(=)" "" "0000884851" "00025238" "50" "5065" "0" "5065" "0" "c.5065dup" "r.(?)" "p.(Thr1689Asnfs*3)" "" "0000884852" "00025238" "30" "4486" "0" "4486" "0" "c.4486C>T" "r.(?)" "p.(Arg1496Trp)" "" "0000884853" "00025238" "30" "3908" "0" "3908" "0" "c.3908T>C" "r.(?)" "p.(Val1303Ala)" "" "0000884854" "00025238" "30" "3604" "9" "3604" "9" "c.3604+9G>A" "r.(=)" "p.(=)" "" "0000884855" "00025238" "30" "3189" "0" "3189" "0" "c.3189C>T" "r.(?)" "p.(Thr1063=)" "" "0000884856" "00025238" "30" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Ser864=)" "" "0000884857" "00025238" "30" "2129" "0" "2129" "0" "c.2129C>T" "r.(?)" "p.(Thr710Ile)" "" "0000884858" "00025238" "30" "1530" "0" "1530" "0" "c.1530C>T" "r.(?)" "p.(Ala510=)" "" "0000884859" "00025238" "30" "1425" "0" "1425" "0" "c.1425G>C" "r.(?)" "p.(Gly475=)" "" "0000884860" "00025238" "30" "416" "-17" "416" "-17" "c.416-17C>T" "r.(=)" "p.(=)" "" "0000884861" "00025238" "10" "121" "0" "121" "0" "c.121T>G" "r.(?)" "p.(Ser41Ala)" "" "0000884862" "00025238" "30" "40" "0" "40" "0" "c.40G>C" "r.(?)" "p.(Val14Leu)" "" "0000911566" "00025238" "30" "4626" "0" "4626" "0" "c.4626G>A" "r.(?)" "p.(Pro1542=)" "" "0000911567" "00025238" "30" "3837" "0" "3837" "0" "c.3837C>T" "r.(?)" "p.(Thr1279=)" "" "0000911568" "00025238" "30" "3517" "3" "3517" "3" "c.3517+3A>G" "r.spl?" "p.?" "" "0000911569" "00025238" "30" "2772" "0" "2772" "0" "c.2772C>T" "r.(?)" "p.(Thr924=)" "" "0000911570" "00025238" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Asn542=)" "" "0000911571" "00025238" "50" "301" "0" "301" "0" "c.301T>A" "r.(?)" "p.(Tyr101Asn)" "" "0000911572" "00025238" "30" "199" "0" "199" "0" "c.199C>A" "r.(?)" "p.(Arg67=)" "" "0000923602" "00025238" "30" "4257" "0" "4257" "0" "c.4257C>T" "r.(?)" "p.(Leu1419=)" "" "0000923603" "00025238" "30" "2261" "0" "2261" "0" "c.2261A>G" "r.(?)" "p.(Tyr754Cys)" "" "0000923604" "00025238" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Thr710=)" "" "0000928515" "00025238" "50" "3539" "0" "3539" "0" "c.3539T>C" "r.(?)" "p.(Leu1180Ser)" "" "0000933941" "00025238" "70" "535" "0" "544" "0" "c.535_544delinsC" "r.(?)" "p.(Cys179_Ile182delinsLeu)" "" "0000936285" "00025238" "50" "4603" "0" "4603" "0" "c.4603C>A" "r.(?)" "p.(Gln1535Lys)" "" "0000947743" "00025238" "30" "5964" "0" "5964" "0" "c.5964C>T" "r.(?)" "p.(=)" "" "0000947744" "00025238" "30" "3118" "0" "3118" "0" "c.3118A>G" "r.(?)" "p.(Arg1040Gly)" "" "0000961880" "00025238" "30" "7363" "-19" "7363" "-19" "c.7363-19C>T" "r.(=)" "p.(=)" "" "0000961881" "00025238" "30" "5761" "0" "5761" "0" "c.5761A>T" "r.(?)" "p.(Ile1921Phe)" "" "0000974950" "00025238" "50" "7426" "0" "7426" "0" "c.7426C>T" "r.(?)" "p.(Arg2476*)" "" "0000974951" "00025238" "30" "5578" "0" "5578" "0" "c.5578A>C" "r.(?)" "p.(Asn1860His)" "" "0000974952" "00025238" "50" "3911" "0" "3911" "0" "c.3911C>T" "r.(?)" "p.(Ala1304Val)" "" "0000974953" "00025238" "30" "3532" "0" "3532" "0" "c.3532A>G" "r.(?)" "p.(Thr1178Ala)" "" "0000974954" "00025238" "10" "2714" "-11" "2714" "-10" "c.2714-11_2714-10del" "r.(=)" "p.(=)" "" "0000974955" "00025238" "30" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Ser864=)" "" "0000974956" "00025238" "30" "2413" "0" "2413" "0" "c.2413A>G" "r.(?)" "p.(Thr805Ala)" "" "0000974957" "00025238" "30" "1820" "-16" "1820" "-16" "c.1820-16A>G" "r.(=)" "p.(=)" "" "0000992479" "00025238" "50" "6305" "0" "6305" "0" "c.6305T>C" "r.(?)" "p.(Leu2102Ser)" "" "0000992480" "00025238" "50" "5977" "1" "5977" "1" "c.5977+1G>A" "r.spl?" "p.?" "" "0000992481" "00025238" "30" "5168" "0" "5168" "0" "c.5168T>C" "r.(?)" "p.(Ile1723Thr)" "" "0000992482" "00025238" "30" "4562" "0" "4562" "0" "c.4562C>G" "r.(?)" "p.(Ala1521Gly)" "" "0000992483" "00025238" "30" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Arg1482Cys)" "" "0000992484" "00025238" "30" "3910" "0" "3910" "0" "c.3910G>A" "r.(?)" "p.(Ala1304Thr)" "" "0000992485" "00025238" "30" "3638" "0" "3638" "0" "c.3638C>G" "r.(?)" "p.(Thr1213Arg)" "" "0000992486" "00025238" "50" "3424" "0" "3424" "0" "c.3424G>A" "r.(?)" "p.(Gly1142Ser)" "" "0000992487" "00025238" "50" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Glu1097Lys)" "" "0000992488" "00025238" "10" "1942" "-20" "1942" "-17" "c.1942-20_1942-17dup" "r.(=)" "p.(=)" "" "0000992489" "00025238" "50" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Arg592Cys)" "" "0000992490" "00025238" "50" "1612" "0" "1612" "0" "c.1612G>T" "r.(?)" "p.(Gly538Trp)" "" "0000992491" "00025238" "50" "1219" "0" "1219" "0" "c.1219T>G" "r.(?)" "p.(Leu407Val)" "" "0001011767" "00025238" "70" "499" "0" "499" "0" "c.499T>A" "r.(?)" "p.(Cys167Ser)" "" "0001024518" "00025238" "50" "5107" "0" "5107" "0" "c.5107G>A" "r.(?)" "p.(Val1703Ile)" "" "0001024519" "00025238" "30" "4357" "0" "4357" "0" "c.4357A>G" "r.(?)" "p.(Thr1453Ala)" "" "0001024520" "00025238" "30" "3605" "-13" "3605" "-9" "c.3605-13_3605-9del" "r.(=)" "p.(=)" "" "0001032949" "00025238" "30" "7198" "0" "7198" "0" "c.7198C>G" "r.(?)" "p.(Gln2400Glu)" "" "0001032950" "00025238" "30" "6157" "4" "6157" "4" "c.6157+4T>C" "r.spl?" "p.?" "" "0001032951" "00025238" "50" "5968" "0" "5968" "0" "c.5968G>A" "r.(?)" "p.(Ala1990Thr)" "" "0001032952" "00025238" "30" "5623" "-10" "5623" "-10" "c.5623-10A>G" "r.(=)" "p.(=)" "" "0001032953" "00025238" "50" "5436" "0" "5436" "0" "c.5436T>C" "r.(?)" "p.(=)" "" "0001032954" "00025238" "50" "5213" "0" "5213" "0" "c.5213C>T" "r.(?)" "p.(Ser1738Phe)" "" "0001032955" "00025238" "30" "5050" "7" "5050" "7" "c.5050+7A>C" "r.(=)" "p.(=)" "" "0001032956" "00025238" "30" "3953" "0" "3953" "0" "c.3953C>G" "r.(?)" "p.(Ser1318Cys)" "" "0001032957" "00025238" "30" "3364" "0" "3364" "0" "c.3364A>C" "r.(?)" "p.(Ser1122Arg)" "" "0001032958" "00025238" "30" "2489" "0" "2489" "0" "c.2489G>A" "r.(?)" "p.(Arg830His)" "" "0001032959" "00025238" "50" "2465" "0" "2465" "0" "c.2465T>C" "r.(?)" "p.(Val822Ala)" "" "0001032960" "00025238" "30" "1670" "0" "1670" "0" "c.1670C>T" "r.(?)" "p.(Pro557Leu)" "" "0001032961" "00025238" "30" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Ser512Leu)" "" "0001032962" "00025238" "50" "932" "0" "932" "0" "c.932A>T" "r.(?)" "p.(Asp311Val)" "" "0001032963" "00025238" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Gly264Ser)" "" "0001045806" "00025238" "10" "7182" "0" "7182" "0" "c.7182C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000104485" "0000169344" "0000147889" "0000241145" "0000147890" "0000241146" "0000147891" "0000241147" "0000147892" "0000241148" "0000147893" "0000241149" "0000147894" "0000241150" "0000147895" "0000241151" "0000154630" "0000354839" "0000293752" "0000650441" "0000363234" "0000763765" "0000440127" "0000936285"