### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLG) # 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}}" "FLG" "filaggrin" "1" "q21.3" "unknown" "NG_016190.1" "UD_132118281700" "" "https://www.LOVD.nl/FLG" "" "1" "3748" "2312" "135940" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FLG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-16 12:08:42" "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}}" "00007995" "FLG" "filaggrin" "001" "NM_002016.1" "" "NP_002007.1" "" "" "" "-36" "12711" "12186" "152297679" "152274651" "" "0000-00-00 00:00:00" "" "" ## 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" "01395" "-" "ichthyosis vulgaris" "AD;AR" "146700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-10 17:27:22" "02242" "XLI" "ichthyosis, X-linked (XLI)" "XLR" "308100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02563" "ATOD2" "dermatitis, atopic, type 2 (ATOD-2)" "" "605803" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" "" "05515" "ATOD" "dermatitis, atopic (ATOD)" "" "" "" "" "" "00006" "2018-11-16 12:02:42" "" "" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" "05728" "ECTD" "dysplasia, ectodermal (ECTD)" "" "" "" "" "" "00006" "2020-04-20 19:23:21" "" "" "05850" "WITKOS" "Witteveen-Kolk syndrome (WITKOS), 15q24 del/dup syndrome" "AD" "613406" "" "" "" "00006" "2020-10-09 12:19:39" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FLG" "01395" "FLG" "02563" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050174" "" "" "" "1" "" "00125" "{PMID:Smith 2006:16444271}" "Frequent mutation in the European population" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050222" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050342" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050356" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050668" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00058555" "" "" "" "2" "" "01351" "{PMID:Reish 2016:27060491}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "Bedouin" "FamPatII1/2" "00234470" "" "" "" "1" "" "00125" "{PMID:Smith 2006:16444271}" "Frequent mutation in European population" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00289524" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289525" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00375227" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 15" "M" "" "Netherlands" "" "0" "" "" "" "" "00410566" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat28" "00414411" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP78" "00414412" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP79" "00414416" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP83" "00414417" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP84" "00414418" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP85" "00419558" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20034" "00437942" "" "" "" "1" "" "00006" "{PMID:Ferrer 2019:31427378}" "3-generation family, 1 triple affected" "F" "" "United States" "" "0" "" "" "" "patient" "00449695" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00050174" "01395" "00050222" "00198" "00050342" "00198" "00050356" "00198" "00050668" "00198" "00058555" "05128" "00234470" "01395" "00289524" "00198" "00289525" "00198" "00375227" "02242" "00410566" "00198" "00414411" "00198" "00414412" "00198" "00414416" "00198" "00414417" "00198" "00414418" "00198" "00419558" "00198" "00437942" "05515" "00437942" "05728" "00437942" "05850" "00449695" "05608" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01395, 02242, 02563, 05128, 05515, 05608, 05728, 05850 ## Count = 17 "{{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}}" "0000036786" "00198" "00050174" "00125" "Familial, autosomal recessive" "" "palmar hyperlinearity, keratosis pilaris" "" "" "" "" "" "" "" "" "ichthyosis vulgaris" "ichthyosis vulgaris" "" "0000036834" "00198" "00050222" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036954" "00198" "00050342" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036968" "00198" "00050356" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000037280" "00198" "00050668" "00006" "Isolated (sporadic)" "" "global developmental delay, widely spaced teeth, depressed nasal bridge, broad-based gait, microcephaly, delayed speech and language development, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000045154" "05128" "00058555" "01351" "Unknown" "" "situs inversus (HP:0001696)" "" "" "" "" "" "" "" "" "" "" "" "0000174879" "01395" "00234470" "00125" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ichthyosis vulgaris" "ichthyosis vulgaris" "" "0000270437" "02242" "00375227" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "ichthyosis vulgaris" "X-linked ichthyosis" "" "0000302669" "00198" "00410566" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset childhood, ichthyosis, no family history" "" "" "" "" "" "" "" "" "FLG" "" "" "0000306246" "00198" "00414411" "00000" "Familial, autosomal dominant" "39y" "" "" "" "" "" "" "" "" "" "Ichthyosis Vulgaris" "" "" "0000306247" "00198" "00414412" "00000" "Familial, autosomal dominant" "9y" "" "" "" "" "" "" "" "" "" "Ichthyosis Vulgaris" "" "" "0000306251" "00198" "00414416" "00000" "Familial, autosomal dominant" "35y" "" "" "" "" "" "" "" "" "" "Ichthyosis Vulgaris" "" "" "0000306252" "00198" "00414417" "00000" "Familial, autosomal dominant" "62y" "" "" "" "" "" "" "" "" "" "Ichthyosis Vulgaris" "" "" "0000306253" "00198" "00414418" "00000" "Familial, autosomal dominant" "8y" "" "" "" "" "" "" "" "" "" "Ichthyosis Vulgaris" "" "" "0000310839" "00198" "00419558" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "dermatological abnormality" "" "0000327849" "05850" "00437942" "00006" "Isolated (sporadic)" "17y" "see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother" "" "" "" "" "" "" "" "" "WITKOS" "" "" "0000338866" "05608" "00449695" "00006" "Isolated (sporadic)" "18y" "see paper; ..., failure to thrive; diarrhea; <7d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; alopecia; dysmorphic (overfolded helices, hypoplasia alea nasi, cone-shaped teeth, hypodontia); 12w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "" "" "SCID-Omenn syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050119" "00050174" "1" "00125" "00006" "2015-09-27 13:26:52" "00125" "2019-05-17 13:35:20" "RFLP;SEQ" "DNA" "" "" "0000050167" "00050222" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050287" "00050342" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050301" "00050356" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050613" "00050668" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000058520" "00058555" "1" "01351" "01351" "2016-01-30 21:20:53" "00006" "2021-06-28 09:17:50" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000235573" "00234470" "1" "00125" "00125" "2019-05-17 13:44:32" "" "" "RFLP;SEQ" "DNA" "" "" "0000290692" "00289524" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290693" "00289525" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000376421" "00375227" "1" "00125" "00125" "2021-05-31 15:31:28" "" "" "SEQ" "DNA" "blood" "" "0000411831" "00410566" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415691" "00414411" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415692" "00414412" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415696" "00414416" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415697" "00414417" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415698" "00414418" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420862" "00419558" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000439426" "00437942" "1" "00006" "00006" "2023-10-17 16:40:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451286" "00449695" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000050119" "FLG" "0000050167" "FLG" "0000050287" "FLG" "0000050301" "FLG" "0000050613" "FLG" "0000058520" "NME7" "0000235573" "FLG" "0000376421" "FLG" "0000376421" "STS" "0000415691" "FLG" "0000415692" "FLG" "0000415696" "FLG" "0000415697" "FLG" "0000415698" "FLG" ## 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 = 743 "{{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}}" "0000079071" "3" "99" "1" "152285861" "152285861" "subst" "0.00936565" "00125" "FLG_000004" "g.152285861G>A" "0.009386" "{PMID:Smith 2006:16444271}" "NlaIII+" "R501X" "" "Germline" "yes" "rs61816761" "0" "" "" "g.152313385G>A" "{CV-RCV:000678332.1}" "pathogenic" "" "0000079119" "3" "90" "1" "152285861" "152285861" "subst" "0.00936565" "00006" "FLG_000004" "g.152285861G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.152313385G>A" "" "pathogenic" "" "0000079239" "1" "90" "1" "152277622" "152277622" "subst" "0.0014458" "00006" "FLG_000001" "g.152277622G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.152305146G>T" "" "pathogenic" "" "0000079253" "1" "90" "1" "152282576" "152282576" "subst" "0" "00006" "FLG_000002" "g.152282576G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.152310100G>A" "" "pathogenic" "" "0000079267" "2" "90" "1" "152285861" "152285861" "subst" "0.00936565" "00006" "FLG_000004" "g.152285861G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.152313385G>A" "" "pathogenic" "" "0000079281" "2" "90" "1" "152285861" "152285861" "subst" "0.00936565" "00006" "FLG_000004" "g.152285861G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.152313385G>A" "" "pathogenic" "" "0000079593" "11" "90" "1" "152277415" "152277415" "subst" "0.000450743" "00006" "FLG_000005" "g.152277415G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.152304939G>C" "" "pathogenic" "" "0000079694" "21" "90" "1" "152284382" "152284382" "subst" "0.000990855" "00006" "FLG_000003" "g.152284382C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.152311906C>T" "" "pathogenic" "" "0000248938" "0" "10" "1" "152277826" "152277826" "subst" "0.160693" "02325" "FLG_000029" "g.152277826A>C" "" "" "" "FLG(NM_002016.2):c.9536T>G (p.V3179G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305350A>C" "" "benign" "" "0000248962" "0" "10" "1" "152286126" "152286126" "subst" "0.116416" "02325" "FLG_000082" "g.152286126A>G" "" "" "" "FLG(NM_002016.2):c.1236T>C (p.R412=), FLG-AS1(NR_103778.1):n.192A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152313650A>G" "" "benign" "" "0000253566" "0" "10" "1" "152276437" "152276437" "subst" "0.00223343" "01943" "FLG_000014" "g.152276437A>G" "" "" "" "FLG(NM_002016.1):c.10925T>C (p.I3642T, p.(Ile3642Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303961A>G" "" "benign" "" "0000253608" "0" "10" "1" "152281534" "152281534" "subst" "0.153919" "01943" "FLG_000056" "g.152281534A>T" "" "" "" "FLG(NM_002016.1):c.5828T>A (p.L1943H, p.(Leu1943His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309058A>T" "" "benign" "" "0000253684" "0" "10" "1" "152283717" "152283717" "subst" "0.00159991" "01943" "FLG_000064" "g.152283717A>G" "" "" "" "FLG(NM_002016.1):c.3645T>C (p.S1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152311241A>G" "" "benign" "" "0000253718" "0" "10" "1" "152281523" "152281523" "subst" "0.196675" "01943" "FLG_000055" "g.152281523A>C" "" "" "" "FLG(NM_002016.1):c.5839T>G (p.W1947G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309047A>C" "" "benign" "" "0000253720" "0" "10" "1" "152284478" "152284478" "subst" "0.000635898" "01943" "FLG_000070" "g.152284478A>G" "" "" "" "FLG(NM_002016.1):c.2884T>C (p.W962R, p.(Trp962Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312002A>G" "" "benign" "" "0000254393" "0" "30" "1" "152283430" "152283430" "subst" "0.000400903" "01943" "FLG_000063" "g.152283430A>G" "" "" "" "FLG(NM_002016.1):c.3932T>C (p.F1311S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152310954A>G" "" "likely benign" "" "0000254458" "0" "30" "1" "152278662" "152278662" "subst" "2.45686E-5" "01943" "FLG_000032" "g.152278662A>G" "" "" "" "FLG(NM_002016.1):c.8700T>C (p.H2900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306186A>G" "" "likely benign" "" "0000254855" "0" "30" "1" "152286864" "152286864" "subst" "1.22329E-5" "01943" "FLG_000084" "g.152286864A>C" "" "" "" "FLG(NM_002016.1):c.498T>G (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152314388A>C" "" "likely benign" "" "0000255035" "0" "30" "1" "152284556" "152284556" "subst" "0.000223343" "01943" "FLG_000071" "g.152284556A>G" "" "" "" "FLG(NM_002016.1):c.2806T>C (p.S936P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312080A>G" "" "likely benign" "" "0000256377" "0" "50" "1" "152278833" "152278833" "subst" "0" "01943" "FLG_000035" "g.152278833A>C" "" "" "" "FLG(NM_002016.1):c.8529T>G (p.N2843K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306357A>C" "" "VUS" "" "0000256393" "0" "50" "1" "152275263" "152275263" "subst" "2.03158E-5" "01943" "FLG_000006" "g.152275263A>T" "" "" "" "FLG(NM_002016.1):c.12099T>A (p.N4033K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152302787A>T" "" "VUS" "" "0000256495" "0" "50" "1" "152277662" "152277662" "subst" "0.00259892" "01943" "FLG_000025" "g.152277662A>T" "" "" "" "FLG(NM_002016.1):c.9700T>A (p.S3234T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305186A>T" "" "VUS" "" "0000280821" "0" "90" "1" "152285081" "152285084" "del" "0" "02325" "FLG_000076" "g.152285081_152285084del" "" "" "" "FLG(NM_002016.1):c.2282_2285delCAGT (p.S761Cfs*36), FLG(NM_002016.2):c.2282_2285del (p.(Ser761CysfsTer36)), FLG(NM_002016.2):c.2282_2285delCAGT (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312605_152312608del" "" "pathogenic" "" "0000280822" "0" "10" "1" "152278434" "152278434" "subst" "0" "02325" "FLG_000030" "g.152278434T>G" "" "" "" "FLG(NM_002016.2):c.8928A>C (p.E2976D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305958T>G" "" "benign" "" "0000280823" "0" "10" "1" "152277822" "152277822" "subst" "0.122524" "02325" "FLG_000028" "g.152277822T>C" "" "" "" "FLG(NM_002016.2):c.9540A>G (p.S3180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305346T>C" "" "benign" "" "0000283242" "0" "90" "1" "152285081" "152285084" "del" "0" "02329" "FLG_000076" "g.152285081_152285084del" "" "" "" "FLG(NM_002016.1):c.2282_2285delCAGT (p.S761Cfs*36), FLG(NM_002016.2):c.2282_2285del (p.(Ser761CysfsTer36)), FLG(NM_002016.2):c.2282_2285delCAGT (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312605_152312608del" "" "pathogenic" "" "0000287567" "0" "50" "1" "152277248" "152277248" "subst" "0.000576818" "01943" "FLG_000019" "g.152277248C>T" "" "" "" "FLG(NM_002016.1):c.10114G>A (p.A3372T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304772C>T" "" "VUS" "" "0000287568" "0" "30" "1" "152277226" "152277226" "subst" "0.000672038" "01943" "FLG_000018" "g.152277226C>G" "" "" "" "FLG(NM_002016.1):c.10136G>C (p.R3379T, p.(Arg3379Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304750C>G" "" "likely benign" "" "0000287569" "0" "30" "1" "152276994" "152276994" "subst" "5.28116E-5" "01943" "FLG_000017" "g.152276994C>T" "" "" "" "FLG(NM_002016.1):c.10368G>A (p.R3456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304518C>T" "" "likely benign" "" "0000287570" "0" "30" "1" "152276761" "152276761" "subst" "0.00022246" "01943" "FLG_000016" "g.152276761T>C" "" "" "" "FLG(NM_002016.1):c.10601A>G (p.N3534S, p.(Asn3534Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304285T>C" "" "likely benign" "" "0000287571" "0" "50" "1" "152276735" "152276735" "subst" "1.62471E-5" "01943" "FLG_000015" "g.152276735T>C" "" "" "" "FLG(NM_002016.1):c.10627A>G (p.S3543G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304259T>C" "" "VUS" "" "0000287572" "0" "10" "1" "152276377" "152276377" "subst" "0.0130184" "01943" "FLG_000013" "g.152276377C>G" "" "" "" "FLG(NM_002016.1):c.10985G>C (p.S3662T, p.(Ser3662Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303901C>G" "" "benign" "" "0000287573" "0" "30" "1" "152276316" "152276316" "subst" "0.000739482" "01943" "FLG_000012" "g.152276316G>A" "" "" "" "FLG(NM_002016.1):c.11046C>T (p.H3682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303840G>A" "" "likely benign" "" "0000287574" "0" "50" "1" "152276303" "152276303" "subst" "0.000122629" "01943" "FLG_000011" "g.152276303G>A" "" "" "" "FLG(NM_002016.1):c.11059C>T (p.P3687S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303827G>A" "" "VUS" "" "0000287575" "0" "50" "1" "152275921" "152275921" "subst" "2.43655E-5" "01943" "FLG_000010" "g.152275921C>T" "" "" "" "FLG(NM_002016.1):c.11441G>A (p.R3814H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303445C>T" "" "VUS" "" "0000287576" "0" "50" "1" "152275868" "152275868" "subst" "0.000178673" "01943" "FLG_000009" "g.152275868C>T" "" "" "" "FLG(NM_002016.1):c.11494G>A (p.E3832K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303392C>T" "" "VUS" "" "0000287577" "0" "30" "1" "152275810" "152275810" "subst" "0.000146205" "01943" "FLG_000008" "g.152275810G>A" "" "" "" "FLG(NM_002016.1):c.11552C>T (p.A3851V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303334G>A" "" "likely benign" "" "0000287578" "0" "30" "1" "152275688" "152275688" "subst" "0.00305809" "01943" "FLG_000007" "g.152275688G>A" "" "" "" "FLG(NM_002016.1):c.11674C>T (p.R3892W, p.(Arg3892Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152303212G>A" "" "likely benign" "" "0000287579" "0" "50" "1" "152286086" "152286086" "subst" "0" "01943" "FLG_000081" "g.152286086C>T" "" "" "" "FLG(NM_002016.1):c.1276G>A (p.E426K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152313610C>T" "" "VUS" "" "0000287580" "0" "30" "1" "152285621" "152285621" "subst" "0.00787392" "01943" "FLG_000080" "g.152285621T>A" "" "" "" "FLG(NM_002016.1):c.1741A>T (p.T581S, p.(Thr581Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152313145T>A" "" "likely benign" "" "0000287581" "0" "50" "1" "152285533" "152285533" "subst" "4.87325E-5" "01943" "FLG_000078" "g.152285533C>A" "" "" "" "FLG(NM_002016.1):c.1829G>T (p.G610V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152313057C>A" "" "VUS" "" "0000287582" "0" "30" "1" "152285124" "152285124" "subst" "4.06062E-6" "01943" "FLG_000077" "g.152285124C>T" "" "" "" "FLG(NM_002016.1):c.2238G>A (p.Q746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312648C>T" "" "likely benign" "" "0000287583" "0" "30" "1" "152284948" "152284948" "subst" "0.00337154" "01943" "FLG_000075" "g.152284948G>A" "" "" "" "FLG(NM_002016.1):c.2414C>T (p.S805F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312472G>A" "" "likely benign" "" "0000287584" "0" "30" "1" "152284773" "152284773" "subst" "0.0012061" "01943" "FLG_000074" "g.152284773C>G" "" "" "" "FLG(NM_002016.1):c.2589G>C (p.R863S, p.(Arg863Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312297C>G" "" "likely benign" "" "0000287585" "0" "30" "1" "152284576" "152284576" "subst" "0.000230185" "01943" "FLG_000073" "g.152284576C>A" "" "" "" "FLG(NM_002016.1):c.2786G>T (p.G929V, p.(Gly929Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312100C>A" "" "likely benign" "" "0000287586" "0" "30" "1" "152284558" "152284558" "subst" "0.00300089" "01943" "FLG_000072" "g.152284558C>G" "" "" "" "FLG(NM_002016.1):c.2804G>C (p.G935A, p.(Gly935Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312082C>G" "" "likely benign" "" "0000287587" "0" "30" "1" "152284426" "152284426" "subst" "0.000690333" "01943" "FLG_000069" "g.152284426C>G" "" "" "" "FLG(NM_002016.1):c.2936G>C (p.R979T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152311950C>G" "" "likely benign" "" "0000287588" "0" "30" "1" "152284377" "152284377" "subst" "9.34025E-5" "01943" "FLG_000068" "g.152284377G>A" "" "" "" "FLG(NM_002016.1):c.2985C>T (p.H995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152311901G>A" "" "likely benign" "" "0000287589" "0" "30" "1" "152284212" "152284212" "subst" "0.000113706" "01943" "FLG_000067" "g.152284212C>T" "" "" "" "FLG(NM_002016.1):c.3150G>A (p.P1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152311736C>T" "" "likely benign" "" "0000287590" "0" "30" "1" "152283926" "152283926" "subst" "0.000186851" "01943" "FLG_000066" "g.152283926G>T" "" "" "" "FLG(NM_002016.1):c.3436C>A (p.H1146N), FLG(NM_002016.2):c.3436C>A (p.(His1146Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152311450G>T" "" "likely benign" "" "0000287591" "0" "30" "1" "152283922" "152283922" "subst" "0.00237616" "01943" "FLG_000065" "g.152283922T>C" "" "" "" "FLG(NM_002016.1):c.3440A>G (p.E1147G, p.(Glu1147Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152311446T>C" "" "likely benign" "" "0000287592" "0" "30" "1" "152282956" "152282956" "subst" "0.000430779" "01943" "FLG_000062" "g.152282956C>T" "" "" "" "FLG(NM_002016.1):c.4406G>A (p.R1469H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152310480C>T" "" "likely benign" "" "0000287593" "0" "50" "1" "152282438" "152282438" "subst" "0.000125901" "01943" "FLG_000061" "g.152282438T>G" "" "" "" "FLG(NM_002016.1):c.4924A>C (p.S1642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309962T>G" "" "VUS" "" "0000287594" "0" "50" "1" "152281976" "152281976" "subst" "0" "01943" "FLG_000060" "g.152281976G>A" "" "" "" "FLG(NM_002016.1):c.5386C>T (p.Q1796*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309500G>A" "" "VUS" "" "0000287595" "0" "50" "1" "152281672" "152281672" "del" "4.06085E-6" "01943" "FLG_000059" "g.152281672del" "" "" "" "FLG(NM_002016.1):c.5690delA (p.H1897Pfs*198)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309196del" "" "VUS" "" "0000287596" "0" "50" "1" "152281606" "152281606" "subst" "8.12163E-6" "01943" "FLG_000057" "g.152281606C>G" "" "" "" "FLG(NM_002016.1):c.5756G>C (p.S1919T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309130C>G" "" "VUS" "" "0000287597" "0" "50" "1" "152281520" "152281520" "subst" "4.06078E-6" "01943" "FLG_000054" "g.152281520C>T" "" "" "" "FLG(NM_002016.1):c.5842G>A (p.E1948K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309044C>T" "" "VUS" "" "0000287598" "0" "30" "1" "152281142" "152281142" "subst" "0.00778852" "01943" "FLG_000053" "g.152281142C>G" "" "" "" "FLG(NM_002016.1):c.6220G>C (p.E2074Q, p.(Glu2074Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152308666C>G" "" "likely benign" "" "0000287599" "0" "30" "1" "152281137" "152281137" "subst" "0.00225774" "01943" "FLG_000052" "g.152281137G>A" "" "" "" "FLG(NM_002016.1):c.6225C>T (p.S2075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152308661G>A" "" "likely benign" "" "0000287600" "0" "30" "1" "152281053" "152281053" "subst" "0.00187216" "01943" "FLG_000051" "g.152281053G>T" "" "" "" "FLG(NM_002016.1):c.6309C>A (p.T2103=), FLG(NM_002016.2):c.6309C>A (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152308577G>T" "" "likely benign" "" "0000287601" "0" "30" "1" "152280779" "152280779" "subst" "0" "01943" "FLG_000050" "g.152280779C>T" "" "" "" "FLG(NM_002016.1):c.6583G>A (p.D2195N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152308303C>T" "" "likely benign" "" "0000287602" "0" "10" "1" "152280559" "152280559" "subst" "0.00214504" "01943" "FLG_000049" "g.152280559T>C" "" "" "" "FLG(NM_002016.1):c.6803A>G (p.H2268R, p.(His2268Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152308083T>C" "" "benign" "" "0000287603" "0" "30" "1" "152280509" "152280509" "subst" "1.62426E-5" "01943" "FLG_000048" "g.152280509G>A" "" "" "" "FLG(NM_002016.1):c.6853C>T (p.H2285Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152308033G>A" "" "likely benign" "" "0000287604" "0" "30" "1" "152280470" "152280470" "subst" "3.65485E-5" "01943" "FLG_000047" "g.152280470T>C" "" "" "" "FLG(NM_002016.1):c.6892A>G (p.S2298G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307994T>C" "" "likely benign" "" "0000287605" "0" "50" "1" "152280161" "152280161" "subst" "4.87698E-5" "01943" "FLG_000046" "g.152280161G>A" "" "" "" "FLG(NM_002016.1):c.7201C>T (p.R2401C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307685G>A" "" "VUS" "" "0000287606" "0" "50" "1" "152280088" "152280088" "subst" "0.000174622" "01943" "FLG_000045" "g.152280088T>G" "" "" "" "FLG(NM_002016.1):c.7274A>C (p.E2425A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307612T>G" "" "VUS" "" "0000287607" "0" "10" "1" "152280074" "152280074" "subst" "0.00123463" "01943" "FLG_000044" "g.152280074G>A" "" "" "" "FLG(NM_002016.1):c.7288C>T (p.R2430W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307598G>A" "" "benign" "" "0000287608" "0" "50" "1" "152286608" "152286608" "subst" "8.53097E-5" "01943" "FLG_000083" "g.152286608C>T" "" "" "" "FLG(NM_002016.1):c.754G>A (p.E252K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152314132C>T" "" "VUS" "" "0000287609" "0" "30" "1" "152279728" "152279728" "subst" "0.000239639" "01943" "FLG_000043" "g.152279728C>A" "" "" "" "FLG(NM_002016.1):c.7634G>T (p.G2545V), FLG(NM_002016.2):c.7634G>T (p.G2545V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307252C>A" "" "likely benign" "" "0000287610" "0" "90" "1" "152279705" "152279705" "subst" "0" "01943" "FLG_000042" "g.152279705G>A" "" "" "" "FLG(NM_002016.1):c.7657C>T (p.Q2553*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307229G>A" "" "pathogenic" "" "0000287611" "0" "50" "1" "152279584" "152279584" "subst" "3.24915E-5" "01943" "FLG_000040" "g.152279584C>G" "" "" "" "FLG(NM_002016.1):c.7778G>C (p.G2593A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152307108C>G" "" "VUS" "" "0000287612" "0" "30" "1" "152279117" "152279117" "subst" "5.70949E-5" "01943" "FLG_000039" "g.152279117C>G" "" "" "" "FLG(NM_002016.1):c.8245G>C (p.E2749Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306641C>G" "" "likely benign" "" "0000287613" "0" "50" "1" "152279065" "152279065" "subst" "0.00146969" "01943" "FLG_000038" "g.152279065C>T" "" "" "" "FLG(NM_002016.1):c.8297G>A (p.R2766H, p.(Arg2766His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306589C>T" "" "VUS" "" "0000287614" "0" "50" "1" "152279015" "152279015" "subst" "0.000129983" "01943" "FLG_000037" "g.152279015G>C" "" "" "" "FLG(NM_002016.1):c.8347C>G (p.Q2783E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306539G>C" "" "VUS" "" "0000287615" "0" "30" "1" "152278956" "152278956" "subst" "0.00178426" "01943" "FLG_000036" "g.152278956G>A" "" "" "" "FLG(NM_002016.1):c.8406C>T (p.H2802=), FLG(NM_002016.2):c.8406C>T (p.H2802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306480G>A" "" "likely benign" "" "0000287616" "0" "30" "1" "152278794" "152278794" "subst" "0.000544506" "01943" "FLG_000034" "g.152278794C>T" "" "" "" "FLG(NM_002016.1):c.8568G>A (p.S2856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306318C>T" "" "likely benign" "" "0000287617" "0" "10" "1" "152278702" "152278702" "subst" "0.00183375" "01943" "FLG_000033" "g.152278702T>G" "" "" "" "FLG(NM_002016.1):c.8660A>C (p.Q2887P, p.(Gln2887Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306226T>G" "" "benign" "" "0000287618" "0" "30" "1" "152278504" "152278504" "subst" "0.000485888" "01943" "FLG_000031" "g.152278504C>T" "" "" "" "FLG(NM_002016.1):c.8858G>A (p.R2953H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152306028C>T" "" "likely benign" "" "0000287619" "0" "10" "1" "152277704" "152277704" "subst" "0.00216459" "01943" "FLG_000027" "g.152277704C>G" "" "" "" "FLG(NM_002016.1):c.9658G>C (p.D3220H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305228C>G" "" "benign" "" "0000287620" "0" "30" "1" "152277663" "152277663" "subst" "0.00309843" "01943" "FLG_000026" "g.152277663C>T" "" "" "" "FLG(NM_002016.1):c.9699G>A (p.G3233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305187C>T" "" "likely benign" "" "0000287621" "0" "50" "1" "152277629" "152277629" "subst" "8.12196E-6" "01943" "FLG_000024" "g.152277629C>A" "" "" "" "FLG(NM_002016.1):c.9733G>T (p.E3245*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305153C>A" "" "VUS" "" "0000287622" "0" "30" "1" "152277615" "152277615" "subst" "0.00346847" "01943" "FLG_000023" "g.152277615G>A" "" "" "" "FLG(NM_002016.1):c.9747C>T (p.H3249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305139G>A" "" "likely benign" "" "0000287623" "0" "30" "1" "152277553" "152277553" "subst" "0.000694394" "01943" "FLG_000022" "g.152277553C>T" "" "" "" "FLG(NM_002016.1):c.9809G>A (p.R3270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152305077C>T" "" "likely benign" "" "0000287624" "0" "50" "1" "152277406" "152277406" "subst" "5.27992E-5" "01943" "FLG_000021" "g.152277406G>A" "" "" "" "FLG(NM_002016.1):c.9956C>T (p.P3319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304930G>A" "" "VUS" "" "0000287625" "0" "30" "1" "152277405" "152277405" "subst" "1.21826E-5" "01943" "FLG_000020" "g.152277405C>T" "" "" "" "FLG(NM_002016.1):c.9957G>A (p.P3319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152304929C>T" "" "likely benign" "" "0000320997" "0" "50" "1" "152281645" "152281645" "subst" "0.00157885" "01804" "FLG_000058" "g.152281645G>T" "" "" "" "FLG(NM_002016.2):c.5717C>A (p.(Ser1906Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152309169G>T" "" "VUS" "" "0000339127" "0" "70" "1" "152275298" "152275298" "subst" "0.00133703" "02327" "FLG_000085" "g.152275298T>A" "" "" "" "FLG(NM_002016.2):c.12064A>T (p.(Lys4022Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152302822T>A" "" "likely pathogenic" "" "0000343024" "0" "90" "1" "152285861" "152285861" "subst" "0.00936565" "02327" "FLG_000004" "g.152285861G>A" "" "" "" "FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152313385G>A" "" "pathogenic" "" "0000344963" "0" "90" "1" "152285034" "152285035" "del" "0" "02327" "FLG_000087" "g.152285034_152285035del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152312558_152312559del" "" "pathogenic" "" "0000478798" "3" "99" "1" "152285081" "152285084" "del" "0" "00125" "FLG_000076" "g.152285081_152285084del" "0.01314" "{PMID:Smith 2006:16444271}" "DraIII+" "2282del4" "" "Germline" "yes" "rs558269137" "0" "" "" "g.152312605_152312608del" "{CV-RCV:000017714.31}" "pathogenic" "" "0000503184" "0" "30" "1" "152275523" "152275523" "subst" "0.000475146" "01804" "FLG_000089" "g.152275523G>A" "" "" "" "FLG(NM_002016.1):c.11839C>T (p.(Arg3947Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303047G>A" "" "likely benign" "" "0000503187" "0" "30" "1" "152275640" "152275640" "subst" "0.00289161" "01804" "FLG_000092" "g.152275640C>T" "" "" "" "FLG(NM_002016.1):c.11722G>A (p.(Asp3908Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303164C>T" "" "likely benign" "" "0000503188" "0" "30" "1" "152275688" "152275688" "subst" "0.00305809" "01804" "FLG_000007" "g.152275688G>A" "" "" "" "FLG(NM_002016.1):c.11674C>T (p.R3892W, p.(Arg3892Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303212G>A" "" "likely benign" "" "0000503189" "0" "30" "1" "152275789" "152275789" "subst" "0.00333431" "01804" "FLG_000093" "g.152275789C>T" "" "" "" "FLG(NM_002016.1):c.11573G>A (p.(Arg3858His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303313C>T" "" "likely benign" "" "0000503190" "0" "30" "1" "152275876" "152275876" "subst" "0.00215232" "01943" "FLG_000094" "g.152275876C>T" "" "" "" "FLG(NM_002016.1):c.11486G>A (p.R3829H, p.(Arg3829His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303400C>T" "" "likely benign" "" "0000503191" "0" "30" "1" "152275876" "152275876" "subst" "0.00215232" "01804" "FLG_000094" "g.152275876C>T" "" "" "" "FLG(NM_002016.1):c.11486G>A (p.R3829H, p.(Arg3829His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303400C>T" "" "likely benign" "" "0000503192" "0" "30" "1" "152275883" "152275883" "subst" "0.00110451" "01804" "FLG_000095" "g.152275883C>A" "" "" "" "FLG(NM_002016.1):c.11479G>T (p.(Gly3827Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303407C>A" "" "likely benign" "" "0000503194" "0" "30" "1" "152276164" "152276164" "subst" "0.0024247" "01804" "FLG_000097" "g.152276164C>A" "" "" "" "FLG(NM_002016.1):c.11198G>T (p.G3733V, p.(Gly3733Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303688C>A" "" "likely benign" "" "0000503195" "0" "30" "1" "152276282" "152276282" "subst" "0.00491973" "01804" "FLG_000098" "g.152276282C>G" "" "" "" "FLG(NM_002016.1):c.11080G>C (p.(Glu3694Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303806C>G" "" "likely benign" "" "0000503196" "0" "30" "1" "152276377" "152276377" "subst" "0.0130184" "01804" "FLG_000013" "g.152276377C>G" "" "" "" "FLG(NM_002016.1):c.10985G>C (p.S3662T, p.(Ser3662Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303901C>G" "" "likely benign" "" "0000503197" "0" "30" "1" "152276437" "152276437" "subst" "0.00223343" "01804" "FLG_000014" "g.152276437A>G" "" "" "" "FLG(NM_002016.1):c.10925T>C (p.I3642T, p.(Ile3642Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303961A>G" "" "likely benign" "" "0000503201" "0" "10" "1" "152276690" "152276690" "subst" "0.00187377" "01943" "FLG_000102" "g.152276690A>G" "" "" "" "FLG(NM_002016.1):c.10672T>C (p.S3558P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304214A>G" "" "benign" "" "0000503202" "0" "30" "1" "152276761" "152276761" "subst" "0.00022246" "01804" "FLG_000016" "g.152276761T>C" "" "" "" "FLG(NM_002016.1):c.10601A>G (p.N3534S, p.(Asn3534Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304285T>C" "" "likely benign" "" "0000503203" "0" "50" "1" "152276762" "152276762" "subst" "0" "01804" "FLG_000103" "g.152276762T>A" "" "" "" "FLG(NM_002016.1):c.10600A>T (p.(Asn3534Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304286T>A" "" "VUS" "" "0000503204" "0" "30" "1" "152276762" "152276762" "subst" "0" "01804" "FLG_000104" "g.152276762T>G" "" "" "" "FLG(NM_002016.1):c.10600A>C (p.(Asn3534His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304286T>G" "" "likely benign" "" "0000503205" "0" "30" "1" "152276777" "152276777" "subst" "0" "01804" "FLG_000105" "g.152276777G>A" "" "" "" "FLG(NM_002016.1):c.10585C>T (p.(Pro3529Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304301G>A" "" "likely benign" "" "0000503206" "0" "30" "1" "152276782" "152276782" "subst" "0.000143518" "01804" "FLG_000106" "g.152276782G>T" "" "" "" "FLG(NM_002016.1):c.10580C>A (p.(Ala3527Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304306G>T" "" "likely benign" "" "0000503207" "0" "30" "1" "152276798" "152276798" "subst" "0.00220633" "01804" "FLG_000107" "g.152276798C>T" "" "" "" "FLG(NM_002016.1):c.10564G>A (p.(Gly3522Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304322C>T" "" "likely benign" "" "0000503208" "0" "50" "1" "152276824" "152276824" "subst" "7.31386E-5" "01943" "FLG_000108" "g.152276824G>A" "" "" "" "FLG(NM_002016.1):c.10538C>T (p.A3513V, p.(Ala3513Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304348G>A" "" "VUS" "" "0000503210" "0" "30" "1" "152277014" "152277014" "subst" "0" "01804" "FLG_000110" "g.152277014A>G" "" "" "" "FLG(NM_002016.1):c.10348T>C (p.Y3450H, p.(Tyr3450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304538A>G" "" "likely benign" "" "0000503211" "0" "30" "1" "152277019" "152277019" "subst" "0" "01804" "FLG_000111" "g.152277019G>T" "" "" "" "FLG(NM_002016.1):c.10343C>A (p.(Ser3448Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304543G>T" "" "likely benign" "" "0000503212" "0" "30" "1" "152277035" "152277035" "subst" "0" "01804" "FLG_000112" "g.152277035T>C" "" "" "" "FLG(NM_002016.1):c.10327A>G (p.(Arg3443Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304559T>C" "" "likely benign" "" "0000503213" "0" "50" "1" "152277107" "152277107" "subst" "0.00028039" "01943" "FLG_000113" "g.152277107G>A" "" "" "" "FLG(NM_002016.1):c.10255C>T (p.R3419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304631G>A" "" "VUS" "" "0000503214" "0" "90" "1" "152277107" "152277107" "subst" "0.00028039" "02327" "FLG_000113" "g.152277107G>A" "" "" "" "FLG(NM_002016.1):c.10255C>T (p.R3419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304631G>A" "" "pathogenic" "" "0000503215" "0" "30" "1" "152277152" "152277152" "subst" "0" "01804" "FLG_000114" "g.152277152T>C" "" "" "" "FLG(NM_002016.1):c.10210A>G (p.(Arg3404Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304676T>C" "" "likely benign" "" "0000503216" "0" "70" "1" "152277183" "152277184" "del" "4.06151E-6" "01804" "FLG_000115" "g.152277183_152277184del" "" "" "" "FLG(NM_002016.1):c.10178_10179delAT (p.(His3393fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304707_152304708del" "" "likely pathogenic" "" "0000503217" "0" "30" "1" "152277217" "152277217" "subst" "0.00101098" "01804" "FLG_000116" "g.152277217C>T" "" "" "" "FLG(NM_002016.1):c.10145G>A (p.(Arg3382His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304741C>T" "" "likely benign" "" "0000503218" "0" "30" "1" "152277226" "152277226" "subst" "0.000672038" "01804" "FLG_000018" "g.152277226C>G" "" "" "" "FLG(NM_002016.1):c.10136G>C (p.R3379T, p.(Arg3379Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304750C>G" "" "likely benign" "" "0000503219" "0" "30" "1" "152277229" "152277229" "subst" "0.000614591" "01804" "FLG_000117" "g.152277229C>T" "" "" "" "FLG(NM_002016.1):c.10133G>A (p.(Gly3378Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304753C>T" "" "likely benign" "" "0000503222" "0" "30" "1" "152277391" "152277391" "subst" "0.000430432" "01804" "FLG_000120" "g.152277391G>A" "" "" "" "FLG(NM_002016.1):c.9971C>T (p.(Ser3324Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304915G>A" "" "likely benign" "" "0000503224" "0" "30" "1" "152277614" "152277614" "subst" "0.00167318" "01804" "FLG_000122" "g.152277614C>T" "" "" "" "FLG(NM_002016.1):c.9748G>A (p.(Gly3250Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305138C>T" "" "likely benign" "" "0000503226" "0" "90" "1" "152277622" "152277622" "subst" "0.0014458" "02327" "FLG_000001" "g.152277622G>T" "" "" "" "FLG(NM_002016.1):c.9740C>A (p.S3247*), FLG(NM_002016.2):c.9740C>A (p.(Ser3247Ter), p.S3247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305146G>T" "" "pathogenic" "" "0000503228" "0" "30" "1" "152277698" "152277698" "subst" "0" "01804" "FLG_000123" "g.152277698C>G" "" "" "" "FLG(NM_002016.1):c.9664G>C (p.(Glu3222Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305222C>G" "" "likely benign" "" "0000503231" "0" "30" "1" "152277952" "152277952" "subst" "2.4695E-5" "01804" "FLG_000125" "g.152277952C>G" "" "" "" "FLG(NM_002016.1):c.9410G>C (p.(Gly3137Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305476C>G" "" "likely benign" "" "0000503232" "0" "30" "1" "152278046" "152278046" "subst" "0" "01943" "FLG_000126" "g.152278046C>T" "" "" "" "FLG(NM_002016.1):c.9316G>A (p.G3106S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305570C>T" "" "likely benign" "" "0000503236" "0" "30" "1" "152278484" "152278484" "subst" "0.0241856" "01804" "FLG_000130" "g.152278484C>T" "" "" "" "FLG(NM_002016.1):c.8878G>A (p.(Gly2960Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306008C>T" "" "likely benign" "" "0000503237" "0" "50" "1" "152278598" "152278598" "subst" "1.64713E-5" "01804" "FLG_000131" "g.152278598G>A" "" "" "" "FLG(NM_002016.1):c.8764C>T (p.(Gln2922Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306122G>A" "" "VUS" "" "0000503238" "0" "30" "1" "152278643" "152278643" "subst" "4.09802E-6" "01804" "FLG_000132" "g.152278643A>G" "" "" "" "FLG(NM_002016.1):c.8719T>C (p.(Trp2907Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306167A>G" "" "likely benign" "" "0000503239" "0" "30" "1" "152278670" "152278670" "subst" "0.00205903" "01804" "FLG_000133" "g.152278670C>G" "" "" "" "FLG(NM_002016.1):c.8692G>C (p.(Glu2898Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306194C>G" "" "likely benign" "" "0000503240" "0" "30" "1" "152278702" "152278702" "subst" "0.00183375" "01804" "FLG_000033" "g.152278702T>G" "" "" "" "FLG(NM_002016.1):c.8660A>C (p.Q2887P, p.(Gln2887Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306226T>G" "" "likely benign" "" "0000503241" "0" "30" "1" "152278706" "152278706" "subst" "0.000839146" "01804" "FLG_000134" "g.152278706G>A" "" "" "" "FLG(NM_002016.1):c.8656C>T (p.(Arg2886Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306230G>A" "" "likely benign" "" "0000503242" "0" "30" "1" "152278714" "152278714" "subst" "0.000331524" "01804" "FLG_000135" "g.152278714C>G" "" "" "" "FLG(NM_002016.1):c.8648G>C (p.(Arg2883Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306238C>G" "" "likely benign" "" "0000503243" "0" "30" "1" "152278762" "152278762" "subst" "0" "01804" "FLG_000136" "g.152278762A>C" "" "" "" "FLG(NM_002016.1):c.8600T>G (p.(Ile2867Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306286A>C" "" "likely benign" "" "0000503244" "0" "30" "1" "152278769" "152278770" "ins" "0" "01804" "FLG_000137" "g.152278769_152278770insCC" "" "" "" "FLG(NM_002016.1):c.8593_8594insGG (p.(Ala2865Glyfs*28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306293_152306294insCC" "" "likely benign" "" "0000503245" "0" "30" "1" "152278770" "152278770" "subst" "0" "01804" "FLG_000138" "g.152278770A>C" "" "" "" "FLG(NM_002016.1):c.8592T>G (p.(His2864Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306294A>C" "" "likely benign" "" "0000503246" "0" "30" "1" "152278771" "152278771" "subst" "0" "01804" "FLG_000139" "g.152278771T>C" "" "" "" "FLG(NM_002016.1):c.8591A>G (p.(His2864Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306295T>C" "" "likely benign" "" "0000503247" "0" "30" "1" "152278771" "152278772" "del" "0" "01804" "FLG_000140" "g.152278771_152278772del" "" "" "" "FLG(NM_002016.1):c.8590_8591del (p.(His2864Cysfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306295_152306296del" "" "likely benign" "" "0000503248" "0" "30" "1" "152278772" "152278772" "subst" "0" "01804" "FLG_000141" "g.152278772G>A" "" "" "" "FLG(NM_002016.1):c.8590C>T (p.(His2864Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306296G>A" "" "likely benign" "" "0000503249" "0" "30" "1" "152278775" "152278775" "subst" "1.63413E-5" "01804" "FLG_000142" "g.152278775T>A" "" "" "" "FLG(NM_002016.1):c.8587A>T (p.(Thr2863Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306299T>A" "" "likely benign" "" "0000503251" "0" "30" "1" "152278799" "152278799" "subst" "0.000347378" "01804" "FLG_000144" "g.152278799C>G" "" "" "" "FLG(NM_002016.1):c.8563G>C (p.(Gly2855Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306323C>G" "" "likely benign" "" "0000503254" "0" "30" "1" "152278835" "152278837" "del" "0" "01804" "FLG_000147" "g.152278835_152278837del" "" "" "" "FLG(NM_002016.1):c.8525_8527del (p.(Arg2842_Asn2843delinsHis))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306359_152306361del" "" "likely benign" "" "0000503255" "0" "30" "1" "152278843" "152278843" "subst" "0.000481095" "01804" "FLG_000148" "g.152278843G>T" "" "" "" "FLG(NM_002016.1):c.8519C>A (p.(Thr2840Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306367G>T" "" "likely benign" "" "0000503256" "0" "30" "1" "152278844" "152278844" "subst" "0.000464707" "01804" "FLG_000149" "g.152278844T>G" "" "" "" "FLG(NM_002016.1):c.8518A>C (p.(Thr2840Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306368T>G" "" "likely benign" "" "0000503257" "0" "30" "1" "152278852" "152278852" "subst" "1.22166E-5" "01804" "FLG_000150" "g.152278852G>C" "" "" "" "FLG(NM_002016.1):c.8510C>G (p.(Ala2837Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306376G>C" "" "likely benign" "" "0000503260" "0" "30" "1" "152278938" "152278938" "subst" "6.09662E-5" "01804" "FLG_000153" "g.152278938G>C" "" "" "" "FLG(NM_002016.1):c.8424C>G (p.(Ser2808Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306462G>C" "" "likely benign" "" "0000503261" "0" "30" "1" "152278950" "152278950" "subst" "4.06405E-6" "01804" "FLG_000154" "g.152278950A>T" "" "" "" "FLG(NM_002016.1):c.8412T>A (p.(His2804Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306474A>T" "" "likely benign" "" "0000503262" "0" "30" "1" "152279065" "152279065" "subst" "0.00146969" "01804" "FLG_000038" "g.152279065C>T" "" "" "" "FLG(NM_002016.1):c.8297G>A (p.R2766H, p.(Arg2766His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306589C>T" "" "likely benign" "" "0000503264" "0" "30" "1" "152279108" "152279108" "subst" "0.000313817" "01804" "FLG_000156" "g.152279108G>C" "" "" "" "FLG(NM_002016.1):c.8254C>G (p.(His2752Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306632G>C" "" "likely benign" "" "0000503265" "0" "30" "1" "152279175" "152279175" "subst" "0.00122495" "01943" "FLG_000157" "g.152279175C>T" "" "" "" "FLG(NM_002016.1):c.8187G>A (p.G2729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306699C>T" "" "likely benign" "" "0000503266" "0" "10" "1" "152279196" "152279196" "subst" "0.0015413" "01943" "FLG_000158" "g.152279196C>T" "" "" "" "FLG(NM_002016.1):c.8166G>A (p.E2722=), FLG(NM_002016.2):c.8166G>A (p.E2722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306720C>T" "" "benign" "" "0000503269" "0" "30" "1" "152279227" "152279227" "subst" "0.000578783" "01804" "FLG_000161" "g.152279227T>C" "" "" "" "FLG(NM_002016.1):c.8135A>G (p.(Gln2712Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306751T>C" "" "likely benign" "" "0000503270" "0" "30" "1" "152279330" "152279330" "subst" "0.000137761" "01804" "FLG_000162" "g.152279330C>A" "" "" "" "FLG(NM_002016.1):c.8032G>T (p.(Ala2678Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306854C>A" "" "likely benign" "" "0000503272" "0" "30" "1" "152279420" "152279420" "subst" "3.39029E-5" "01804" "FLG_000164" "g.152279420A>G" "" "" "" "FLG(NM_002016.1):c.7942T>C (p.S2648P, p.(Ser2648Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306944A>G" "" "likely benign" "" "0000503273" "0" "30" "1" "152279532" "152279532" "subst" "6.11661E-5" "01804" "FLG_000165" "g.152279532T>G" "" "" "" "FLG(NM_002016.1):c.7830A>C (p.(Gln2610His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307056T>G" "" "likely benign" "" "0000503274" "0" "30" "1" "152279707" "152279707" "subst" "0" "01804" "FLG_000166" "g.152279707C>T" "" "" "" "FLG(NM_002016.1):c.7655G>A (p.(Gly2552Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307231C>T" "" "likely benign" "" "0000503275" "0" "30" "1" "152279744" "152279744" "subst" "0.00147821" "01804" "FLG_000167" "g.152279744G>A" "" "" "" "FLG(NM_002016.1):c.7618C>T (p.(Arg2540Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307268G>A" "" "likely benign" "" "0000503277" "0" "30" "1" "152279816" "152279816" "subst" "2.03039E-5" "01804" "FLG_000169" "g.152279816G>T" "" "" "" "FLG(NM_002016.1):c.7546C>A (p.(Gln2516Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307340G>T" "" "likely benign" "" "0000503278" "0" "30" "1" "152279848" "152279848" "subst" "0.00022743" "01804" "FLG_000170" "g.152279848T>C" "" "" "" "FLG(NM_002016.1):c.7514A>G (p.(His2505Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307372T>C" "" "likely benign" "" "0000503279" "0" "50" "1" "152279935" "152279935" "subst" "0" "01943" "FLG_000171" "g.152279935G>T" "" "" "" "FLG(NM_002016.1):c.7427C>A (p.S2476Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307459G>T" "" "VUS" "" "0000503280" "0" "30" "1" "152279975" "152279975" "subst" "0.00813474" "01804" "FLG_000172" "g.152279975G>C" "" "" "" "FLG(NM_002016.1):c.7387C>G (p.(His2463Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307499G>C" "" "likely benign" "" "0000503281" "0" "90" "1" "152280023" "152280023" "subst" "0.00286376" "01804" "FLG_000173" "g.152280023G>A" "" "" "" "FLG(NM_002016.1):c.7339C>T (p.R2447*, p.(Arg2447*)), FLG(NM_002016.2):c.7339C>T (p.R2447*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307547G>A" "" "pathogenic" "" "0000503282" "0" "90" "1" "152280023" "152280023" "subst" "0.00286376" "02327" "FLG_000173" "g.152280023G>A" "" "" "" "FLG(NM_002016.1):c.7339C>T (p.R2447*, p.(Arg2447*)), FLG(NM_002016.2):c.7339C>T (p.R2447*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307547G>A" "" "pathogenic" "" "0000503285" "0" "30" "1" "152280194" "152280194" "subst" "0" "01804" "FLG_000176" "g.152280194C>A" "" "" "" "FLG(NM_002016.1):c.7168G>T (p.(Gly2390Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307718C>A" "" "likely benign" "" "0000503286" "0" "30" "1" "152280274" "152280274" "subst" "0.00105532" "01804" "FLG_000177" "g.152280274G>T" "" "" "" "FLG(NM_002016.1):c.7088C>A (p.(Ser2363Tyr)), FLG(NM_002016.2):c.7088C>A (p.S2363Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307798G>T" "" "likely benign" "" "0000503287" "0" "30" "1" "152280325" "152280325" "subst" "0.00274169" "01804" "FLG_000178" "g.152280325A>G" "" "" "" "FLG(NM_002016.1):c.7037T>C (p.(Ile2346Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307849A>G" "" "likely benign" "" "0000503289" "0" "30" "1" "152280491" "152280491" "subst" "0.000288348" "01804" "FLG_000180" "g.152280491C>T" "" "" "" "FLG(NM_002016.1):c.6871G>A (p.(Gly2291Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308015C>T" "" "likely benign" "" "0000503290" "0" "50" "1" "152280545" "152280545" "subst" "6.49715E-5" "01943" "FLG_000181" "g.152280545C>T" "" "" "" "FLG(NM_002016.1):c.6817G>A (p.E2273K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308069C>T" "" "VUS" "" "0000503291" "0" "30" "1" "152280559" "152280559" "subst" "0.00214504" "01804" "FLG_000049" "g.152280559T>C" "" "" "" "FLG(NM_002016.1):c.6803A>G (p.H2268R, p.(His2268Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308083T>C" "" "likely benign" "" "0000503292" "0" "30" "1" "152280650" "152280650" "subst" "0" "01804" "FLG_000182" "g.152280650G>A" "" "" "" "FLG(NM_002016.1):c.6712C>T (p.(Pro2238Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308174G>A" "" "likely benign" "" "0000503293" "0" "30" "1" "152280670" "152280670" "subst" "0" "01804" "FLG_000183" "g.152280670G>T" "" "" "" "FLG(NM_002016.1):c.6692C>A (p.(Ser2231Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308194G>T" "" "likely benign" "" "0000503294" "0" "30" "1" "152280671" "152280671" "subst" "0" "01804" "FLG_000184" "g.152280671A>C" "" "" "" "FLG(NM_002016.1):c.6691T>G (p.(Ser2231Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308195A>C" "" "likely benign" "" "0000503295" "0" "30" "1" "152280710" "152280710" "subst" "0.00102404" "01804" "FLG_000185" "g.152280710C>T" "" "" "" "FLG(NM_002016.1):c.6652G>A (p.(Asp2218Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308234C>T" "" "likely benign" "" "0000503297" "0" "30" "1" "152280758" "152280758" "subst" "0.00200279" "01804" "FLG_000187" "g.152280758C>T" "" "" "" "FLG(NM_002016.1):c.6604G>A (p.(Gly2202Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308282C>T" "" "likely benign" "" "0000503298" "0" "30" "1" "152280857" "152280857" "subst" "0.00273286" "01804" "FLG_000188" "g.152280857T>C" "" "" "" "FLG(NM_002016.1):c.6505A>G (p.(Ser2169Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308381T>C" "" "likely benign" "" "0000503300" "0" "30" "1" "152280932" "152280932" "subst" "0.00206717" "01804" "FLG_000190" "g.152280932G>A" "" "" "" "FLG(NM_002016.1):c.6430C>T (p.(Pro2144Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308456G>A" "" "likely benign" "" "0000503301" "0" "30" "1" "152281002" "152281002" "subst" "3.24939E-5" "01804" "FLG_000191" "g.152281002A>C" "" "" "" "FLG(NM_002016.1):c.6360T>G (p.D2120E, p.(Asp2120Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308526A>C" "" "likely benign" "" "0000503302" "0" "30" "1" "152281009" "152281009" "subst" "3.24892E-5" "01804" "FLG_000192" "g.152281009T>C" "" "" "" "FLG(NM_002016.1):c.6353A>G (p.H2118R, p.(His2118Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308533T>C" "" "likely benign" "" "0000503303" "0" "30" "1" "152281136" "152281136" "subst" "4.06124E-6" "01943" "FLG_000193" "g.152281136C>A" "" "" "" "FLG(NM_002016.1):c.6226G>T (p.A2076S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308660C>A" "" "likely benign" "" "0000503305" "0" "30" "1" "152281142" "152281142" "subst" "0.00778852" "01804" "FLG_000053" "g.152281142C>G" "" "" "" "FLG(NM_002016.1):c.6220G>C (p.E2074Q, p.(Glu2074Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308666C>G" "" "likely benign" "" "0000503306" "0" "30" "1" "152281157" "152281157" "subst" "0.000105579" "01943" "FLG_000195" "g.152281157G>T" "" "" "" "FLG(NM_002016.1):c.6205C>A (p.Q2069K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308681G>T" "" "likely benign" "" "0000503307" "0" "30" "1" "152281158" "152281158" "subst" "0.000877115" "01943" "FLG_000196" "g.152281158A>T" "" "" "" "FLG(NM_002016.1):c.6204T>A (p.H2068Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308682A>T" "" "likely benign" "" "0000503308" "0" "30" "1" "152281172" "152281172" "subst" "0.0263677" "01804" "FLG_000197" "g.152281172T>G" "" "" "" "FLG(NM_002016.1):c.6190A>C (p.(Lys2064Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308696T>G" "" "likely benign" "" "0000503309" "0" "10" "1" "152281289" "152281289" "subst" "0.00146878" "01943" "FLG_000198" "g.152281289C>T" "" "" "" "FLG(NM_002016.1):c.6073G>A (p.G2025R, p.(Gly2025Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308813C>T" "" "benign" "" "0000503310" "0" "50" "1" "152281289" "152281289" "subst" "0.00146878" "01804" "FLG_000198" "g.152281289C>T" "" "" "" "FLG(NM_002016.1):c.6073G>A (p.G2025R, p.(Gly2025Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308813C>T" "" "VUS" "" "0000503312" "0" "30" "1" "152281423" "152281423" "subst" "0.00176308" "01943" "FLG_000200" "g.152281423C>T" "" "" "" "FLG(NM_002016.1):c.5939G>A (p.R1980H, p.(Arg1980His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308947C>T" "" "likely benign" "" "0000503313" "0" "30" "1" "152281423" "152281423" "subst" "0.00176308" "01804" "FLG_000200" "g.152281423C>T" "" "" "" "FLG(NM_002016.1):c.5939G>A (p.R1980H, p.(Arg1980His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308947C>T" "" "likely benign" "" "0000503315" "0" "30" "1" "152281517" "152281517" "subst" "0.000601015" "01804" "FLG_000202" "g.152281517G>C" "" "" "" "FLG(NM_002016.1):c.5845C>G (p.(Gln1949Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309041G>C" "" "likely benign" "" "0000503316" "0" "50" "1" "152281522" "152281522" "subst" "0.000203227" "01804" "FLG_000203" "g.152281522C>T" "" "" "" "FLG(NM_002016.1):c.5840G>A (p.W1947*, p.(Trp1947Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309046C>T" "" "VUS" "" "0000503317" "0" "30" "1" "152281523" "152281523" "subst" "0.000223556" "01804" "FLG_000204" "g.152281523A>G" "" "" "" "FLG(NM_002016.1):c.5839T>C (p.W1947R, p.(Trp1947Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309047A>G" "" "likely benign" "" "0000503318" "0" "30" "1" "152281534" "152281534" "subst" "0.153919" "01804" "FLG_000056" "g.152281534A>T" "" "" "" "FLG(NM_002016.1):c.5828T>A (p.L1943H, p.(Leu1943His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309058A>T" "" "likely benign" "" "0000503319" "0" "30" "1" "152281560" "152281560" "subst" "0" "01804" "FLG_000205" "g.152281560C>G" "" "" "" "FLG(NM_002016.1):c.5802G>C (p.(Trp1934Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309084C>G" "" "likely benign" "" "0000503322" "0" "30" "1" "152281625" "152281625" "subst" "0.00124767" "01804" "FLG_000208" "g.152281625T>G" "" "" "" "FLG(NM_002016.1):c.5737A>C (p.(Asn1913His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309149T>G" "" "likely benign" "" "0000503327" "0" "30" "1" "152281732" "152281732" "subst" "8.12143E-6" "01804" "FLG_000213" "g.152281732C>T" "" "" "" "FLG(NM_002016.1):c.5630G>A (p.(Gly1877Asp)), FLG(NM_002016.2):c.5630G>A (p.G1877D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309256C>T" "" "likely benign" "" "0000503329" "0" "30" "1" "152281778" "152281778" "subst" "8.1213E-6" "01943" "FLG_000215" "g.152281778T>G" "" "" "" "FLG(NM_002016.1):c.5584A>C (p.R1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309302T>G" "" "likely benign" "" "0000503331" "0" "30" "1" "152281830" "152281830" "subst" "1.21819E-5" "01943" "FLG_000217" "g.152281830G>T" "" "" "" "FLG(NM_002016.1):c.5532C>A (p.S1844R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309354G>T" "" "likely benign" "" "0000503332" "0" "30" "1" "152281865" "152281865" "subst" "0.000154302" "01804" "FLG_000218" "g.152281865C>T" "" "" "" "FLG(NM_002016.1):c.5497G>A (p.(Val1833Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309389C>T" "" "likely benign" "" "0000503333" "0" "30" "1" "152281876" "152281876" "subst" "0.00315109" "01804" "FLG_000219" "g.152281876T>C" "" "" "" "FLG(NM_002016.1):c.5486A>G (p.(Tyr1829Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309400T>C" "" "likely benign" "" "0000503334" "0" "30" "1" "152281907" "152281907" "subst" "1.64002E-5" "01804" "FLG_000220" "g.152281907A>G" "" "" "" "FLG(NM_002016.1):c.5455T>C (p.(Ser1819Pro)), FLG(NM_002016.2):c.5455T>C (p.S1819P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309431A>G" "" "likely benign" "" "0000503336" "0" "30" "1" "152282007" "152282007" "subst" "0.00193315" "01804" "FLG_000222" "g.152282007G>C" "" "" "" "FLG(NM_002016.1):c.5355C>G (p.(Ser1785Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309531G>C" "" "likely benign" "" "0000503337" "0" "30" "1" "152282092" "152282092" "subst" "2.04608E-5" "01804" "FLG_000223" "g.152282092T>C" "" "" "" "FLG(NM_002016.1):c.5270A>G (p.(Glu1757Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309616T>C" "" "likely benign" "" "0000503338" "0" "30" "1" "152282101" "152282101" "subst" "6.94376E-5" "01804" "FLG_000224" "g.152282101T>C" "" "" "" "FLG(NM_002016.1):c.5261A>G (p.(Gln1754Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309625T>C" "" "likely benign" "" "0000503339" "0" "30" "1" "152282104" "152282104" "subst" "0" "01804" "FLG_000225" "g.152282104C>T" "" "" "" "FLG(NM_002016.1):c.5258G>A (p.(Gly1753Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309628C>T" "" "likely benign" "" "0000503340" "0" "30" "1" "152282111" "152282111" "subst" "0" "01804" "FLG_000226" "g.152282111T>C" "" "" "" "FLG(NM_002016.1):c.5251A>G (p.(Thr1751Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309635T>C" "" "likely benign" "" "0000503343" "0" "30" "1" "152282461" "152282461" "subst" "0.00127519" "01804" "FLG_000229" "g.152282461C>G" "" "" "" "FLG(NM_002016.1):c.4901G>C (p.(Arg1634Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309985C>G" "" "likely benign" "" "0000503344" "0" "30" "1" "152282635" "152282635" "subst" "0.000259913" "01804" "FLG_000230" "g.152282635A>T" "" "" "" "FLG(NM_002016.1):c.4727T>A (p.(Val1576Glu)), FLG(NM_002016.2):c.4727T>A (p.V1576E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310159A>T" "" "likely benign" "" "0000503345" "0" "50" "1" "152282708" "152282708" "subst" "4.06141E-6" "01943" "FLG_000231" "g.152282708C>A" "" "" "" "FLG(NM_002016.1):c.4654G>T (p.D1552Y), FLG(NM_002016.2):c.4654G>T (p.D1552Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310232C>A" "" "VUS" "" "0000503347" "0" "50" "1" "152282884" "152282884" "subst" "0" "02325" "FLG_000233" "g.152282884G>C" "" "" "" "FLG(NM_002016.2):c.4478C>G (p.P1493R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310408G>C" "" "VUS" "" "0000503350" "0" "30" "1" "152282941" "152282941" "subst" "0.000536324" "01943" "FLG_000236" "g.152282941C>T" "" "" "" "FLG(NM_002016.1):c.4421G>A (p.R1474Q, p.(Arg1474Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310465C>T" "" "likely benign" "" "0000503351" "0" "30" "1" "152282941" "152282941" "subst" "0.000536324" "01804" "FLG_000236" "g.152282941C>T" "" "" "" "FLG(NM_002016.1):c.4421G>A (p.R1474Q, p.(Arg1474Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310465C>T" "" "likely benign" "" "0000503353" "0" "30" "1" "152283113" "152283113" "subst" "0.000194914" "01943" "FLG_000237" "g.152283113C>T" "" "" "" "FLG(NM_002016.1):c.4249G>A (p.G1417R, p.(Gly1417Arg)), FLG(NM_002016.2):c.4249G>A (p.G1417R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310637C>T" "" "likely benign" "" "0000503354" "0" "30" "1" "152283122" "152283122" "subst" "0.00193699" "01804" "FLG_000238" "g.152283122C>T" "" "" "" "FLG(NM_002016.1):c.4240G>A (p.(Gly1414Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310646C>T" "" "likely benign" "" "0000503356" "0" "30" "1" "152283406" "152283406" "subst" "0" "01943" "FLG_000240" "g.152283406T>G" "" "" "" "FLG(NM_002016.1):c.3956A>C (p.H1319P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310930T>G" "" "likely benign" "" "0000503359" "0" "30" "1" "152283466" "152283466" "subst" "0.00158394" "01804" "FLG_000243" "g.152283466C>T" "" "" "" "FLG(NM_002016.1):c.3896G>A (p.R1299Q, p.(Arg1299Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310990C>T" "" "likely benign" "" "0000503360" "0" "30" "1" "152283470" "152283470" "subst" "0.000402757" "01804" "FLG_000244" "g.152283470A>C" "" "" "" "FLG(NM_002016.1):c.3892T>G (p.(Ser1298Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310994A>C" "" "likely benign" "" "0000503362" "0" "30" "1" "152283577" "152283577" "subst" "0.000146199" "01804" "FLG_000246" "g.152283577G>T" "" "" "" "FLG(NM_002016.1):c.3785C>A (p.(Thr1262Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311101G>T" "" "likely benign" "" "0000503363" "0" "30" "1" "152283646" "152283646" "subst" "0.000523841" "01943" "FLG_000247" "g.152283646T>G" "" "" "" "FLG(NM_002016.1):c.3716A>C (p.E1239A), FLG(NM_002016.2):c.3716A>C (p.(Glu1239Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311170T>G" "" "likely benign" "" "0000503365" "0" "30" "1" "152283742" "152283742" "subst" "0.0128438" "01804" "FLG_000249" "g.152283742G>T" "" "" "" "FLG(NM_002016.1):c.3620C>A (p.(Ser1207Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311266G>T" "" "likely benign" "" "0000503366" "0" "30" "1" "152283753" "152283753" "subst" "0.00272064" "01943" "FLG_000250" "g.152283753C>A" "" "" "" "FLG(NM_002016.1):c.3609G>T (p.R1203S, p.(Arg1203Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311277C>A" "" "likely benign" "" "0000503367" "0" "30" "1" "152283753" "152283753" "subst" "0.00272064" "01804" "FLG_000250" "g.152283753C>A" "" "" "" "FLG(NM_002016.1):c.3609G>T (p.R1203S, p.(Arg1203Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311277C>A" "" "likely benign" "" "0000503369" "0" "30" "1" "152283819" "152283819" "subst" "8.12143E-6" "01943" "FLG_000252" "g.152283819A>T" "" "" "" "FLG(NM_002016.1):c.3543T>A (p.H1181Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311343A>T" "" "likely benign" "" "0000503372" "0" "30" "1" "152283922" "152283922" "subst" "0.00237616" "01804" "FLG_000065" "g.152283922T>C" "" "" "" "FLG(NM_002016.1):c.3440A>G (p.E1147G, p.(Glu1147Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311446T>C" "" "likely benign" "" "0000503374" "0" "30" "1" "152283965" "152283965" "subst" "0.000580852" "01804" "FLG_000256" "g.152283965G>A" "" "" "" "FLG(NM_002016.1):c.3397C>T (p.(Arg1133Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311489G>A" "" "likely benign" "" "0000503375" "0" "30" "1" "152284010" "152284010" "subst" "0.000991" "01943" "FLG_000257" "g.152284010T>G" "" "" "" "FLG(NM_002016.1):c.3352A>C (p.I1118L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311534T>G" "" "likely benign" "" "0000503376" "0" "30" "1" "152284024" "152284024" "subst" "0.00194922" "01804" "FLG_000258" "g.152284024C>T" "" "" "" "FLG(NM_002016.1):c.3338G>A (p.(Arg1113His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311548C>T" "" "likely benign" "" "0000503377" "0" "30" "1" "152284046" "152284046" "subst" "0.00323731" "01804" "FLG_000259" "g.152284046A>G" "" "" "" "FLG(NM_002016.1):c.3316T>C (p.(Trp1106Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311570A>G" "" "likely benign" "" "0000503378" "0" "30" "1" "152284087" "152284087" "subst" "0.000259884" "01804" "FLG_000260" "g.152284087T>G" "" "" "" "FLG(NM_002016.1):c.3275A>C (p.(Asp1092Ala)), FLG(NM_002016.2):c.3275A>C (p.D1092A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311611T>G" "" "likely benign" "" "0000503379" "0" "30" "1" "152284125" "152284125" "subst" "0.000105579" "01943" "FLG_000261" "g.152284125C>T" "" "" "" "FLG(NM_002016.1):c.3237G>A (p.E1079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311649C>T" "" "likely benign" "" "0000503380" "0" "30" "1" "152284165" "152284165" "subst" "0.00031269" "01804" "FLG_000262" "g.152284165G>T" "" "" "" "FLG(NM_002016.1):c.3197C>A (p.(Ser1066Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311689G>T" "" "likely benign" "" "0000503381" "0" "30" "1" "152284208" "152284208" "subst" "0.00209132" "01804" "FLG_000263" "g.152284208T>C" "" "" "" "FLG(NM_002016.1):c.3154A>G (p.(Arg1052Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311732T>C" "" "likely benign" "" "0000503382" "0" "30" "1" "152284265" "152284265" "subst" "4.06055E-6" "01943" "FLG_000264" "g.152284265G>A" "" "" "" "FLG(NM_002016.1):c.3097C>T (p.H1033Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311789G>A" "" "likely benign" "" "0000503383" "0" "30" "1" "152284269" "152284269" "subst" "0.00079184" "01943" "FLG_000265" "g.152284269T>C" "" "" "" "FLG(NM_002016.1):c.3093A>G (p.E1031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311793T>C" "" "likely benign" "" "0000503384" "0" "30" "1" "152284328" "152284328" "subst" "4.06075E-6" "01804" "FLG_000266" "g.152284328T>A" "" "" "" "FLG(NM_002016.1):c.3034A>T (p.(Thr1012Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311852T>A" "" "likely benign" "" "0000503385" "0" "30" "1" "152284424" "152284424" "subst" "0.0235622" "01804" "FLG_000267" "g.152284424G>C" "" "" "" "FLG(NM_002016.1):c.2938C>G (p.(His980Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311948G>C" "" "likely benign" "" "0000503389" "0" "10" "1" "152284450" "152284450" "subst" "0.00446693" "01943" "FLG_000271" "g.152284450C>T" "" "" "" "FLG(NM_002016.1):c.2912G>A (p.R971H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311974C>T" "" "benign" "" "0000503391" "0" "30" "1" "152284471" "152284471" "subst" "4.06802E-6" "01804" "FLG_000272" "g.152284471C>G" "" "" "" "FLG(NM_002016.1):c.2891G>C (p.(Gly964Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311995C>G" "" "likely benign" "" "0000503392" "0" "30" "1" "152284478" "152284478" "subst" "0.000635898" "01804" "FLG_000070" "g.152284478A>G" "" "" "" "FLG(NM_002016.1):c.2884T>C (p.W962R, p.(Trp962Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312002A>G" "" "likely benign" "" "0000503393" "0" "30" "1" "152284505" "152284505" "subst" "0.00536601" "01804" "FLG_000273" "g.152284505C>G" "" "" "" "FLG(NM_002016.1):c.2857G>C (p.(Glu953Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312029C>G" "" "likely benign" "" "0000503394" "0" "30" "1" "152284540" "152284540" "subst" "0.000198985" "01943" "FLG_000274" "g.152284540C>T" "" "" "" "FLG(NM_002016.1):c.2822G>A (p.R941H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312064C>T" "" "likely benign" "" "0000503397" "0" "30" "1" "152284549" "152284549" "subst" "0.000515979" "01804" "FLG_000276" "g.152284549G>C" "" "" "" "FLG(NM_002016.1):c.2813C>G (p.(Thr938Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312073G>C" "" "likely benign" "" "0000503398" "0" "30" "1" "152284551" "152284551" "subst" "4.06078E-6" "01943" "FLG_000277" "g.152284551C>T" "" "" "" "FLG(NM_002016.1):c.2811G>A (p.R937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312075C>T" "" "likely benign" "" "0000503399" "0" "30" "1" "152284558" "152284558" "subst" "0.00300089" "01804" "FLG_000072" "g.152284558C>G" "" "" "" "FLG(NM_002016.1):c.2804G>C (p.G935A, p.(Gly935Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312082C>G" "" "likely benign" "" "0000503400" "0" "30" "1" "152284568" "152284568" "subst" "2.84252E-5" "01804" "FLG_000278" "g.152284568G>T" "" "" "" "FLG(NM_002016.1):c.2794C>A (p.Q932K, p.(Gln932Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312092G>T" "" "likely benign" "" "0000503401" "0" "30" "1" "152284576" "152284576" "subst" "0.000230185" "01804" "FLG_000073" "g.152284576C>A" "" "" "" "FLG(NM_002016.1):c.2786G>T (p.G929V, p.(Gly929Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312100C>A" "" "likely benign" "" "0000503402" "0" "30" "1" "152284597" "152284597" "subst" "4.06921E-6" "01804" "FLG_000279" "g.152284597A>C" "" "" "" "FLG(NM_002016.1):c.2765T>G (p.(Ile922Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312121A>C" "" "likely benign" "" "0000503404" "0" "30" "1" "152284604" "152284605" "ins" "0" "01804" "FLG_000281" "g.152284604_152284605insCC" "" "" "" "FLG(NM_002016.1):c.2758_2759insGG (p.(Ala920Glyfs*203))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312128_152312129insCC" "" "likely benign" "" "0000503405" "0" "30" "1" "152284606" "152284607" "del" "4.06111E-6" "01804" "FLG_000282" "g.152284606_152284607del" "" "" "" "FLG(NM_002016.1):c.2755_2756del (p.(His919CysfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312130_152312131del" "" "likely benign" "" "0000503407" "0" "30" "1" "152284644" "152284644" "subst" "0" "01943" "FLG_000284" "g.152284644G>A" "" "" "" "FLG(NM_002016.1):c.2718C>T (p.S906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312168G>A" "" "likely benign" "" "0000503408" "0" "30" "1" "152284649" "152284649" "subst" "0.00295707" "01943" "FLG_000285" "g.152284649C>T" "" "" "" "FLG(NM_002016.1):c.2713G>A (p.G905S, p.(Gly905Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312173C>T" "" "likely benign" "" "0000503409" "0" "30" "1" "152284649" "152284649" "subst" "0.00295707" "01804" "FLG_000285" "g.152284649C>T" "" "" "" "FLG(NM_002016.1):c.2713G>A (p.G905S, p.(Gly905Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312173C>T" "" "likely benign" "" "0000503412" "0" "30" "1" "152284670" "152284672" "del" "0" "01804" "FLG_000288" "g.152284670_152284672del" "" "" "" "FLG(NM_002016.1):c.2690_2692del (p.(Arg897_Asn898delinsHis))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312194_152312196del" "" "likely benign" "" "0000503413" "0" "30" "1" "152284673" "152284673" "subst" "0.00318769" "01804" "FLG_000289" "g.152284673G>A" "" "" "" "FLG(NM_002016.1):c.2689C>T (p.(Arg897Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312197G>A" "" "likely benign" "" "0000503414" "0" "30" "1" "152284678" "152284678" "subst" "0" "01804" "FLG_000290" "g.152284678G>T" "" "" "" "FLG(NM_002016.1):c.2684C>A (p.(Thr895Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312202G>T" "" "likely benign" "" "0000503415" "0" "30" "1" "152284679" "152284679" "subst" "0" "01804" "FLG_000291" "g.152284679T>G" "" "" "" "FLG(NM_002016.1):c.2683A>C (p.(Thr895Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312203T>G" "" "likely benign" "" "0000503417" "0" "30" "1" "152284773" "152284773" "subst" "0.0012061" "01804" "FLG_000074" "g.152284773C>G" "" "" "" "FLG(NM_002016.1):c.2589G>C (p.R863S, p.(Arg863Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312297C>G" "" "likely benign" "" "0000503418" "0" "30" "1" "152284782" "152284782" "subst" "0.00284668" "01943" "FLG_000293" "g.152284782C>T" "" "" "" "FLG(NM_002016.1):c.2580G>A (p.S860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312306C>T" "" "likely benign" "" "0000503419" "0" "30" "1" "152284823" "152284823" "subst" "0.00317726" "01804" "FLG_000294" "g.152284823A>T" "" "" "" "FLG(NM_002016.1):c.2539T>A (p.(Ser847Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312347A>T" "" "likely benign" "" "0000503420" "0" "50" "1" "152284886" "152284886" "subst" "0.000585176" "01804" "FLG_000295" "g.152284886G>A" "" "" "" "FLG(NM_002016.1):c.2476C>T (p.R826*, p.(Arg826Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312410G>A" "" "VUS" "" "0000503422" "0" "30" "1" "152284961" "152284961" "subst" "0.000739429" "01804" "FLG_000297" "g.152284961T>C" "" "" "" "FLG(NM_002016.1):c.2401A>G (p.(Lys801Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312485T>C" "" "likely benign" "" "0000503423" "0" "30" "1" "152284963" "152284963" "subst" "0" "01804" "FLG_000298" "g.152284963T>A" "" "" "" "FLG(NM_002016.1):c.2399A>T (p.(His800Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312487T>A" "" "likely benign" "" "0000503425" "0" "50" "1" "152285000" "152285000" "subst" "0.000264007" "01943" "FLG_000300" "g.152285000G>A" "" "" "" "FLG(NM_002016.1):c.2362C>T (p.R788*), FLG(NM_002016.2):c.2362C>T (p.R788*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312524G>A" "" "VUS" "" "0000503427" "0" "90" "1" "152285000" "152285000" "subst" "0.000264007" "02325" "FLG_000300" "g.152285000G>A" "" "" "" "FLG(NM_002016.1):c.2362C>T (p.R788*), FLG(NM_002016.2):c.2362C>T (p.R788*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312524G>A" "" "pathogenic" "" "0000503428" "0" "30" "1" "152285020" "152285020" "subst" "0.000162431" "01804" "FLG_000301" "g.152285020T>C" "" "" "" "FLG(NM_002016.1):c.2342A>G (p.(Asp781Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312544T>C" "" "likely benign" "" "0000503429" "0" "90" "1" "152285081" "152285084" "del" "0" "01804" "FLG_000076" "g.152285081_152285084del" "" "" "" "FLG(NM_002016.1):c.2282_2285delCAGT (p.S761Cfs*36), FLG(NM_002016.2):c.2282_2285del (p.(Ser761CysfsTer36)), FLG(NM_002016.2):c.2282_2285delCAGT (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312605_152312608del" "" "pathogenic" "" "0000503435" "0" "30" "1" "152285290" "152285290" "subst" "0.0037968" "01804" "FLG_000307" "g.152285290C>T" "" "" "" "FLG(NM_002016.1):c.2072G>A (p.(Gly691Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312814C>T" "" "likely benign" "" "0000503436" "0" "30" "1" "152285295" "152285295" "subst" "0.000747178" "01943" "FLG_000308" "g.152285295A>G" "" "" "" "FLG(NM_002016.1):c.2067T>C (p.S689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312819A>G" "" "likely benign" "" "0000503438" "0" "50" "1" "152285339" "152285339" "subst" "0.000134004" "01943" "FLG_000310" "g.152285339C>G" "" "" "" "FLG(NM_002016.1):c.2023G>C (p.D675H, p.(Asp675His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312863C>G" "" "VUS" "" "0000503439" "0" "30" "1" "152285339" "152285339" "subst" "0.000134004" "01804" "FLG_000310" "g.152285339C>G" "" "" "" "FLG(NM_002016.1):c.2023G>C (p.D675H, p.(Asp675His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312863C>G" "" "likely benign" "" "0000503440" "0" "30" "1" "152285369" "152285369" "subst" "0.00251764" "01804" "FLG_000311" "g.152285369C>T" "" "" "" "FLG(NM_002016.1):c.1993G>A (p.(Glu665Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312893C>T" "" "likely benign" "" "0000503442" "0" "30" "1" "152285534" "152285534" "subst" "0.00317977" "01804" "FLG_000313" "g.152285534C>T" "" "" "" "FLG(NM_002016.1):c.1828G>A (p.(Gly610Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313058C>T" "" "likely benign" "" "0000503444" "0" "30" "1" "152285621" "152285621" "subst" "0.00787392" "01804" "FLG_000080" "g.152285621T>A" "" "" "" "FLG(NM_002016.1):c.1741A>T (p.T581S, p.(Thr581Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313145T>A" "" "likely benign" "" "0000503445" "0" "30" "1" "152285759" "152285759" "subst" "0.0031797" "01804" "FLG_000315" "g.152285759A>G" "" "" "" "FLG(NM_002016.1):c.1603T>C (p.(Ser535Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313283A>G" "" "likely benign" "" "0000503446" "0" "90" "1" "152285861" "152285861" "subst" "0.00936565" "01804" "FLG_000004" "g.152285861G>A" "" "" "" "FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313385G>A" "" "pathogenic" "" "0000503447" "0" "90" "1" "152285861" "152285861" "subst" "0.00936565" "02325" "FLG_000004" "g.152285861G>A" "" "" "" "FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313385G>A" "" "pathogenic" "" "0000503448" "0" "90" "1" "152285861" "152285861" "subst" "0.00936565" "02329" "FLG_000004" "g.152285861G>A" "" "" "" "FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313385G>A" "" "pathogenic" "" "0000503449" "0" "10" "1" "152285868" "152285868" "subst" "0.00189706" "01943" "FLG_000316" "g.152285868C>G" "" "" "" "FLG(NM_002016.1):c.1494G>C (p.E498D, p.(Glu498Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313392C>G" "" "benign" "" "0000503450" "0" "30" "1" "152285868" "152285868" "subst" "0.00189706" "01804" "FLG_000316" "g.152285868C>G" "" "" "" "FLG(NM_002016.1):c.1494G>C (p.E498D, p.(Glu498Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313392C>G" "" "likely benign" "" "0000503452" "0" "30" "1" "152286020" "152286020" "subst" "0.000113702" "01943" "FLG_000318" "g.152286020G>T" "" "" "" "FLG(NM_002016.1):c.1342C>A (p.Q448K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313544G>T" "" "likely benign" "" "0000503454" "0" "50" "1" "152286251" "152286251" "subst" "4.06088E-6" "01804" "FLG_000320" "g.152286251A>T" "" "" "" "FLG(NM_002016.1):c.1111T>A (p.(Ser371Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313775A>T" "" "VUS" "" "0000503458" "0" "30" "1" "152287026" "152287026" "subst" "0" "01943" "FLG_000324" "g.152287026A>G" "" "" "" "FLG(NM_002016.1):c.336T>C (p.D112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152314550A>G" "" "likely benign" "" "0000503459" "0" "50" "1" "152324866" "152324866" "subst" "2.84361E-5" "02325" "FLG_000325" "g.152324866C>T" "" "" "" "FLG2(NM_001014342.3):c.5396G>A (p.R1799K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152352390C>T" "" "VUS" "" "0000503460" "0" "50" "1" "152326322" "152326323" "dup" "0" "02325" "FLG_000326" "g.152326322_152326323dup" "" "" "" "FLG2(NM_001014342.3):c.3939_3940dup (p.(Thr1314IlefsTer223)), FLG2(NM_001014342.3):c.3939_3940dupTA (p.T1314Ifs*223)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152353846_152353847dup" "" "VUS" "" "0000503461" "0" "30" "1" "152327007" "152327007" "subst" "4.06263E-6" "01943" "FLG_000327" "g.152327007T>C" "" "" "" "FLG2(NM_001014342.2):c.3255A>G (p.Q1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152354531T>C" "" "likely benign" "" "0000503462" "0" "30" "1" "152327469" "152327699" "del" "8.86808E-6" "01804" "FLG_000328" "g.152327469_152327699del" "" "" "" "FLG2(NM_001014342.2):c.2595_2825del (p.(Ser869_Thr945del)), FLG2(NM_001014342.3):c.2595_2825del (p.S869_T945del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152354993_152355223del" "" "likely benign" "" "0000604804" "0" "30" "1" "152275878" "152275878" "subst" "0.000304564" "01943" "FLG_000329" "g.152275878C>T" "" "" "" "FLG(NM_002016.1):c.11484G>A (p.S3828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303402C>T" "" "likely benign" "" "0000604805" "0" "30" "1" "152276736" "152276736" "subst" "4.06204E-6" "01943" "FLG_000330" "g.152276736G>A" "" "" "" "FLG(NM_002016.1):c.10626C>T (p.D3542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304260G>A" "" "likely benign" "" "0000604806" "0" "30" "1" "152277794" "152277794" "subst" "0.000455381" "01804" "FLG_000331" "g.152277794C>T" "" "" "" "FLG(NM_002016.1):c.9568G>A (p.(Asp3190Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305318C>T" "" "likely benign" "" "0000604809" "0" "30" "1" "152278831" "152278832" "ins" "0" "01804" "FLG_000334" "g.152278831_152278832insTGT" "" "" "" "FLG(NM_002016.1):c.8531_8532insCAA (p.(Glu2844delinsAspLys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306355_152306356insTGT" "" "likely benign" "" "0000604810" "0" "30" "1" "152279021" "152279021" "subst" "0" "01804" "FLG_000335" "g.152279021C>A" "" "" "" "FLG(NM_002016.1):c.8341G>T (p.(Asp2781Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306545C>A" "" "likely benign" "" "0000604811" "0" "50" "1" "152279452" "152279452" "subst" "0.000427871" "01943" "FLG_000336" "g.152279452C>A" "" "" "" "FLG(NM_002016.1):c.7910G>T (p.G2637V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306976C>A" "" "VUS" "" "0000604812" "0" "30" "1" "152280134" "152280134" "subst" "0.000560597" "01804" "FLG_000337" "g.152280134G>A" "" "" "" "FLG(NM_002016.1):c.7228C>T (p.(Arg2410Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307658G>A" "" "likely benign" "" "0000604813" "0" "90" "1" "152280331" "152280331" "subst" "0" "01804" "FLG_000338" "g.152280331G>T" "" "" "" "FLG(NM_002016.1):c.7031C>A (p.(Ser2344Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307855G>T" "" "pathogenic" "" "0000604814" "0" "30" "1" "152280806" "152280806" "subst" "4.06091E-6" "01943" "FLG_000339" "g.152280806A>G" "" "" "" "FLG(NM_002016.1):c.6556T>C (p.S2186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308330A>G" "" "likely benign" "" "0000604815" "0" "30" "1" "152280847" "152280847" "subst" "0" "01804" "FLG_000340" "g.152280847G>A" "" "" "" "FLG(NM_002016.1):c.6515C>T (p.(Thr2172Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308371G>A" "" "likely benign" "" "0000604816" "0" "30" "1" "152281856" "152281856" "subst" "0.000706536" "01804" "FLG_000341" "g.152281856A>C" "" "" "" "FLG(NM_002016.1):c.5506T>G (p.(Ser1836Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309380A>C" "" "likely benign" "" "0000604817" "0" "30" "1" "152282495" "152282495" "subst" "1.62456E-5" "01943" "FLG_000342" "g.152282495G>T" "" "" "" "FLG(NM_002016.1):c.4867C>A (p.R1623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310019G>T" "" "likely benign" "" "0000604818" "0" "50" "1" "152282662" "152282662" "subst" "8.52799E-5" "01943" "FLG_000343" "g.152282662C>T" "" "" "" "FLG(NM_002016.1):c.4700G>A (p.R1567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310186C>T" "" "VUS" "" "0000604819" "0" "90" "1" "152284041" "152284041" "del" "0.000702515" "02327" "FLG_000344" "g.152284041del" "" "" "" "FLG(NM_002016.2):c.3321del (p.(Gly1109GlufsTer13)), FLG(NM_002016.2):c.3321delA (p.G1109Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311565del" "" "pathogenic" "" "0000604820" "0" "30" "1" "152284568" "152284568" "subst" "2.84252E-5" "01943" "FLG_000278" "g.152284568G>T" "" "" "" "FLG(NM_002016.1):c.2794C>A (p.Q932K, p.(Gln932Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312092G>T" "" "likely benign" "" "0000604821" "0" "30" "1" "152284666" "152284667" "ins" "0" "01804" "FLG_000345" "g.152284666_152284667insTGT" "" "" "" "FLG(NM_002016.1):c.2696_2697insCAA (p.(Glu899delinsAspLys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312190_152312191insTGT" "" "likely benign" "" "0000604822" "0" "30" "1" "152285021" "152285021" "subst" "0.000580692" "01804" "FLG_000346" "g.152285021C>G" "" "" "" "FLG(NM_002016.1):c.2341G>C (p.(Asp781His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312545C>G" "" "likely benign" "" "0000604823" "0" "90" "1" "152285081" "152285084" "del" "0" "01943" "FLG_000076" "g.152285081_152285084del" "" "" "" "FLG(NM_002016.1):c.2282_2285delCAGT (p.S761Cfs*36), FLG(NM_002016.2):c.2282_2285del (p.(Ser761CysfsTer36)), FLG(NM_002016.2):c.2282_2285delCAGT (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312605_152312608del" "" "pathogenic" "" "0000604824" "0" "50" "1" "152327158" "152327161" "del" "0.000771636" "02325" "FLG_000347" "g.152327158_152327161del" "" "" "" "FLG2(NM_001014342.3):c.3101_3104delAATA (p.Q1034Pfs*192)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152354682_152354685del" "" "VUS" "" "0000604825" "0" "30" "1" "152327997" "152327997" "subst" "0.000170565" "01943" "FLG_000349" "g.152327997G>T" "" "" "" "FLG2(NM_001014342.2):c.2265C>A (p.S755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152355521G>T" "" "likely benign" "" "0000604826" "0" "90" "1" "152328155" "152328155" "del" "0" "01943" "FLG_000350" "g.152328155del" "" "" "" "FLG2(NM_001014342.2):c.2107delT (p.S703Hfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152355679del" "" "pathogenic" "" "0000620398" "0" "70" "1" "152327541" "152327541" "subst" "4.98372E-5" "02325" "FLG_000348" "g.152327541G>T" "" "" "" "FLG2(NM_001014342.3):c.2721C>A (p.Y907*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152355065G>T" "" "likely pathogenic" "" "0000647381" "1" "30" "1" "152275789" "152275789" "subst" "0.00333431" "03575" "FLG_000093" "g.152275789C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs74129447}" "Germline" "" "rs74129447" "0" "" "" "g.152303313C>T" "" "likely benign" "" "0000647382" "1" "90" "1" "152287839" "152287839" "subst" "0.000138252" "03575" "FLG_000351" "g.152287839C>A" "6/2762 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs114733570}" "Germline" "" "rs114733570" "0" "" "" "g.152315363C>A" "" "pathogenic" "" "0000653664" "0" "10" "1" "152274685" "152274685" "subst" "0" "02327" "FLG_000352" "g.152274685T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152302209T>A" "" "benign" "" "0000653665" "0" "10" "1" "152275453" "152275453" "subst" "0.02077" "02327" "FLG_000088" "g.152275453G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152302977G>A" "" "benign" "" "0000653666" "0" "30" "1" "152275928" "152275928" "subst" "0" "01943" "FLG_000353" "g.152275928C>T" "" "" "" "FLG(NM_002016.1):c.11434G>A (p.E3812K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303452C>T" "" "likely benign" "" "0000653667" "0" "10" "1" "152276149" "152276149" "subst" "0.241693" "02327" "FLG_000354" "g.152276149C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303673C>T" "" "benign" "" "0000653668" "0" "30" "1" "152276289" "152276289" "subst" "0.000997915" "01943" "FLG_000355" "g.152276289G>A" "" "" "" "FLG(NM_002016.1):c.11073C>T (p.S3691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303813G>A" "" "likely benign" "" "0000653669" "0" "10" "1" "152276459" "152276459" "subst" "0.0944148" "02327" "FLG_000356" "g.152276459C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152303983C>T" "" "benign" "" "0000653670" "0" "10" "1" "152276583" "152276583" "subst" "0.0977033" "02327" "FLG_000357" "g.152276583C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304107C>G" "" "benign" "" "0000653671" "0" "10" "1" "152276598" "152276598" "subst" "0.0584626" "02327" "FLG_000358" "g.152276598G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304122G>A" "" "benign" "" "0000653672" "0" "10" "1" "152276626" "152276626" "subst" "0.0768094" "02327" "FLG_000359" "g.152276626G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304150G>C" "" "benign" "" "0000653673" "0" "10" "1" "152276671" "152276671" "subst" "0.0434257" "02327" "FLG_000101" "g.152276671C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304195C>A" "" "benign" "" "0000653674" "0" "10" "1" "152276671" "152276671" "subst" "0.0878592" "02327" "FLG_000360" "g.152276671C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304195C>T" "" "benign" "" "0000653675" "0" "10" "1" "152276699" "152276699" "subst" "0.105818" "02327" "FLG_000361" "g.152276699A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304223A>G" "" "benign" "" "0000653676" "0" "10" "1" "152276772" "152276772" "subst" "0.245566" "02327" "FLG_000362" "g.152276772C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304296C>A" "" "benign" "" "0000653677" "0" "10" "1" "152276871" "152276871" "subst" "0.281806" "02327" "FLG_000363" "g.152276871A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304395A>G" "" "benign" "" "0000653678" "0" "10" "1" "152276889" "152276889" "subst" "0.300267" "02327" "FLG_000364" "g.152276889A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304413A>G" "" "benign" "" "0000653679" "0" "10" "1" "152277055" "152277055" "subst" "0.295937" "02327" "FLG_000365" "g.152277055C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304579C>G" "" "benign" "" "0000653680" "0" "10" "1" "152277084" "152277084" "subst" "0.00399028" "02327" "FLG_000366" "g.152277084C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304608C>T" "" "benign" "" "0000653682" "0" "10" "1" "152277100" "152277100" "subst" "0.00587867" "02327" "FLG_000368" "g.152277100C>T" "" "" "" "FLG(NM_002016.1):c.10262G>A (p.S3421N, p.(Ser3421Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304624C>T" "" "benign" "" "0000653683" "0" "10" "1" "152277168" "152277168" "subst" "0.290839" "02327" "FLG_000369" "g.152277168A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304692A>G" "" "benign" "" "0000653684" "0" "10" "1" "152277307" "152277307" "subst" "0.00377653" "02327" "FLG_000370" "g.152277307G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304831G>C" "" "benign" "" "0000653685" "0" "10" "1" "152277345" "152277345" "subst" "0.242219" "02327" "FLG_000371" "g.152277345C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304869C>T" "" "benign" "" "0000653686" "0" "10" "1" "152277396" "152277396" "subst" "0.272055" "02327" "FLG_000372" "g.152277396T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152304920T>C" "" "benign" "" "0000653687" "0" "10" "1" "152277554" "152277554" "subst" "0.0228253" "02327" "FLG_000121" "g.152277554G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305078G>A" "" "benign" "" "0000653688" "0" "10" "1" "152277575" "152277575" "subst" "0.00881233" "02327" "FLG_000373" "g.152277575C>T" "" "" "" "FLG(NM_002016.1):c.9787G>A (p.(Gly3263Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305099C>T" "" "benign" "" "0000653689" "0" "10" "1" "152277717" "152277717" "subst" "0.302681" "02327" "FLG_000374" "g.152277717C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305241C>A" "" "benign" "" "0000653690" "0" "50" "1" "152277720" "152277720" "subst" "8.12354E-6" "01943" "FLG_000375" "g.152277720A>G" "" "" "" "FLG(NM_002016.1):c.9642T>C (p.S3214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305244A>G" "" "VUS" "" "0000653691" "0" "10" "1" "152277822" "152277822" "subst" "0.122524" "02327" "FLG_000028" "g.152277822T>C" "" "" "" "FLG(NM_002016.2):c.9540A>G (p.S3180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305346T>C" "" "benign" "" "0000653692" "0" "10" "1" "152277826" "152277826" "subst" "0.160693" "02327" "FLG_000029" "g.152277826A>C" "" "" "" "FLG(NM_002016.2):c.9536T>G (p.V3179G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305350A>C" "" "benign" "" "0000653693" "0" "10" "1" "152278203" "152278203" "subst" "1.04984E-5" "02327" "FLG_000376" "g.152278203C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305727C>T" "" "benign" "" "0000653694" "0" "10" "1" "152278434" "152278434" "subst" "0" "02327" "FLG_000030" "g.152278434T>G" "" "" "" "FLG(NM_002016.2):c.8928A>C (p.E2976D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152305958T>G" "" "benign" "" "0000653695" "0" "10" "1" "152278484" "152278484" "subst" "0.0241856" "02327" "FLG_000130" "g.152278484C>T" "" "" "" "FLG(NM_002016.1):c.8878G>A (p.(Gly2960Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306008C>T" "" "benign" "" "0000653696" "0" "10" "1" "152278612" "152278612" "subst" "0.00348995" "02327" "FLG_000377" "g.152278612C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306136C>A" "" "benign" "" "0000653697" "0" "10" "1" "152278689" "152278689" "subst" "0.278048" "02327" "FLG_000378" "g.152278689C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306213C>A" "" "benign" "" "0000653698" "0" "10" "1" "152278814" "152278814" "subst" "0.0716127" "02327" "FLG_000379" "g.152278814C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306338C>T" "" "benign" "" "0000653699" "0" "10" "1" "152278856" "152278856" "subst" "0.177547" "02327" "FLG_000380" "g.152278856T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306380T>G" "" "benign" "" "0000653700" "0" "30" "1" "152279151" "152279151" "subst" "3.27051E-5" "01943" "FLG_000381" "g.152279151A>C" "" "" "" "FLG(NM_002016.1):c.8211T>G (p.S2737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306675A>C" "" "likely benign" "" "0000653701" "0" "10" "1" "152279175" "152279175" "subst" "0.00122495" "02327" "FLG_000157" "g.152279175C>T" "" "" "" "FLG(NM_002016.1):c.8187G>A (p.G2729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306699C>T" "" "benign" "" "0000653702" "0" "10" "1" "152279406" "152279406" "subst" "0.273748" "02327" "FLG_000382" "g.152279406T>G" "" "" "" "FLG(NM_002016.2):c.7956A>C (p.E2652D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152306930T>G" "" "benign" "" "0000653703" "0" "10" "1" "152279729" "152279729" "subst" "0.300619" "02327" "FLG_000383" "g.152279729C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307253C>T" "" "benign" "" "0000653704" "0" "10" "1" "152279841" "152279841" "subst" "0.298057" "02327" "FLG_000384" "g.152279841G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307365G>C" "" "benign" "" "0000653705" "0" "10" "1" "152279920" "152279920" "subst" "0.271521" "02327" "FLG_000385" "g.152279920A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307444A>G" "" "benign" "" "0000653706" "0" "10" "1" "152280032" "152280032" "subst" "0.271484" "02327" "FLG_000386" "g.152280032T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307556T>C" "" "benign" "" "0000653707" "0" "10" "1" "152280110" "152280110" "subst" "0.0141496" "02327" "FLG_000175" "g.152280110C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307634C>T" "" "benign" "" "0000653708" "0" "10" "1" "152280170" "152280170" "subst" "0.257813" "02327" "FLG_000387" "g.152280170C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307694C>G" "" "benign" "" "0000653709" "0" "10" "1" "152280265" "152280265" "subst" "0.21287" "02327" "FLG_000388" "g.152280265C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307789C>G" "" "benign" "" "0000653710" "0" "10" "1" "152280347" "152280347" "subst" "0.147926" "02327" "FLG_000389" "g.152280347C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307871C>T" "" "benign" "" "0000653711" "0" "10" "1" "152280471" "152280471" "subst" "0.194726" "02327" "FLG_000390" "g.152280471C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152307995C>G" "" "benign" "" "0000653712" "0" "10" "1" "152280573" "152280573" "subst" "0.000560538" "02327" "FLG_000391" "g.152280573C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308097C>A" "" "benign" "" "0000653713" "0" "10" "1" "152280573" "152280573" "subst" "0.0172992" "02327" "FLG_000392" "g.152280573C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308097C>T" "" "benign" "" "0000653714" "0" "10" "1" "152280575" "152280575" "subst" "0.00365876" "02327" "FLG_000393" "g.152280575C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308099C>T" "" "benign" "" "0000653715" "0" "10" "1" "152280597" "152280597" "subst" "0" "02327" "FLG_000394" "g.152280597A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308121A>G" "" "benign" "" "0000653716" "0" "10" "1" "152280658" "152280658" "subst" "0" "02327" "FLG_000395" "g.152280658G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308182G>C" "" "benign" "" "0000653717" "0" "10" "1" "152280782" "152280782" "subst" "0.31679" "02327" "FLG_000396" "g.152280782A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308306A>G" "" "benign" "" "0000653718" "0" "10" "1" "152280788" "152280788" "subst" "0.239904" "02327" "FLG_000397" "g.152280788T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308312T>G" "" "benign" "" "0000653719" "0" "10" "1" "152280864" "152280864" "subst" "0.298211" "02327" "FLG_000398" "g.152280864A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308388A>G" "" "benign" "" "0000653720" "0" "10" "1" "152280900" "152280900" "subst" "0.237447" "02327" "FLG_000399" "g.152280900T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308424T>G" "" "benign" "" "0000653721" "0" "10" "1" "152281039" "152281039" "subst" "0.22448" "02327" "FLG_000400" "g.152281039G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308563G>A" "" "benign" "" "0000653722" "0" "10" "1" "152281172" "152281172" "subst" "0.0263677" "02327" "FLG_000197" "g.152281172T>G" "" "" "" "FLG(NM_002016.1):c.6190A>C (p.(Lys2064Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308696T>G" "" "benign" "" "0000653723" "0" "10" "1" "152281228" "152281228" "subst" "0.217259" "02327" "FLG_000401" "g.152281228C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308752C>G" "" "benign" "" "0000653724" "0" "10" "1" "152281290" "152281290" "subst" "0.222636" "02327" "FLG_000402" "g.152281290A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308814A>G" "" "benign" "" "0000653725" "0" "10" "1" "152281304" "152281304" "subst" "0.222358" "02327" "FLG_000403" "g.152281304A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308828A>C" "" "benign" "" "0000653726" "0" "10" "1" "152281317" "152281317" "subst" "0.0226675" "02327" "FLG_000199" "g.152281317G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152308841G>T" "" "benign" "" "0000653727" "0" "10" "1" "152281479" "152281479" "subst" "0.316406" "02327" "FLG_000404" "g.152281479G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309003G>T" "" "benign" "" "0000653728" "0" "10" "1" "152281523" "152281523" "subst" "0.196675" "02327" "FLG_000055" "g.152281523A>C" "" "" "" "FLG(NM_002016.1):c.5839T>G (p.W1947G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309047A>C" "" "benign" "" "0000653729" "0" "10" "1" "152281534" "152281534" "subst" "0.153919" "02327" "FLG_000056" "g.152281534A>T" "" "" "" "FLG(NM_002016.1):c.5828T>A (p.L1943H, p.(Leu1943His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309058A>T" "" "benign" "" "0000653730" "0" "10" "1" "152281621" "152281621" "subst" "0.0678601" "02327" "FLG_000405" "g.152281621T>C" "" "" "" "FLG(NM_002016.2):c.5741A>G (p.Q1914R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309145T>C" "" "benign" "" "0000653731" "0" "10" "1" "152281690" "152281690" "subst" "0.241618" "02327" "FLG_000406" "g.152281690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309214C>T" "" "benign" "" "0000653732" "0" "10" "1" "152281691" "152281691" "subst" "0.0227489" "02327" "FLG_000212" "g.152281691G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309215G>A" "" "benign" "" "0000653733" "0" "10" "1" "152281724" "152281724" "subst" "0.00955494" "02327" "FLG_000407" "g.152281724G>T" "" "" "" "FLG(NM_002016.1):c.5638C>A (p.(His1880Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309248G>T" "" "benign" "" "0000653734" "0" "10" "1" "152281745" "152281745" "subst" "0.0226713" "02327" "FLG_000214" "g.152281745G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309269G>T" "" "benign" "" "0000653735" "0" "10" "1" "152281948" "152281948" "subst" "0.241586" "02327" "FLG_000408" "g.152281948G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309472G>A" "" "benign" "" "0000653736" "0" "10" "1" "152282267" "152282267" "subst" "0.241585" "02327" "FLG_000409" "g.152282267G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309791G>A" "" "benign" "" "0000653737" "0" "10" "1" "152282311" "152282311" "subst" "0.24402" "02327" "FLG_000410" "g.152282311C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152309835C>T" "" "benign" "" "0000653738" "0" "10" "1" "152282684" "152282684" "subst" "0.0313391" "02327" "FLG_000411" "g.152282684G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310208G>A" "" "benign" "" "0000653739" "0" "10" "1" "152282794" "152282794" "subst" "0.0227107" "02327" "FLG_000232" "g.152282794G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310318G>A" "" "benign" "" "0000653740" "0" "10" "1" "152282910" "152282910" "subst" "0.0226972" "02327" "FLG_000235" "g.152282910G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310434G>C" "" "benign" "" "0000653741" "0" "10" "1" "152282917" "152282917" "subst" "0.241566" "02327" "FLG_000412" "g.152282917G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310441G>T" "" "benign" "" "0000653742" "0" "10" "1" "152282952" "152282952" "subst" "0.0227136" "02327" "FLG_000413" "g.152282952A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310476A>G" "" "benign" "" "0000653743" "0" "10" "1" "152283236" "152283236" "subst" "0.271938" "02327" "FLG_000414" "g.152283236T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310760T>C" "" "benign" "" "0000653744" "0" "10" "1" "152283267" "152283267" "subst" "0.011597" "02327" "FLG_000415" "g.152283267T>A" "" "" "" "FLG(NM_002016.2):c.4095A>T (p.A1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310791T>A" "" "benign" "" "0000653745" "0" "10" "1" "152283283" "152283283" "subst" "0.241699" "02327" "FLG_000416" "g.152283283C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152310807C>T" "" "benign" "" "0000653746" "0" "10" "1" "152283568" "152283568" "subst" "0.0141562" "02327" "FLG_000245" "g.152283568T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311092T>C" "" "benign" "" "0000653747" "0" "10" "1" "152283742" "152283742" "subst" "0.0128438" "02327" "FLG_000249" "g.152283742G>T" "" "" "" "FLG(NM_002016.1):c.3620C>A (p.(Ser1207Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311266G>T" "" "benign" "" "0000653748" "0" "10" "1" "152283862" "152283862" "subst" "0.307566" "02327" "FLG_000417" "g.152283862G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311386G>C" "" "benign" "" "0000653749" "0" "10" "1" "152283943" "152283943" "subst" "0.00374538" "02327" "FLG_000255" "g.152283943C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311467C>T" "" "benign" "" "0000653750" "0" "10" "1" "152283975" "152283975" "subst" "0.298096" "02327" "FLG_000418" "g.152283975A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311499A>G" "" "benign" "" "0000653751" "0" "10" "1" "152284424" "152284424" "subst" "0.0235622" "02327" "FLG_000267" "g.152284424G>C" "" "" "" "FLG(NM_002016.1):c.2938C>G (p.(His980Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311948G>C" "" "benign" "" "0000653752" "0" "10" "1" "152284505" "152284505" "subst" "0.00536601" "02327" "FLG_000273" "g.152284505C>G" "" "" "" "FLG(NM_002016.1):c.2857G>C (p.(Glu953Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312029C>G" "" "benign" "" "0000653753" "0" "30" "1" "152284597" "152284597" "subst" "8.13842E-6" "01943" "FLG_000419" "g.152284597A>G" "" "" "" "FLG(NM_002016.1):c.2765T>C (p.I922T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312121A>G" "" "likely benign" "" "0000653754" "0" "30" "1" "152284853" "152284853" "subst" "0.00232828" "01804" "FLG_000420" "g.152284853C>T" "" "" "" "FLG(NM_002016.1):c.2509G>A (p.(Gly837Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312377C>T" "" "likely benign" "" "0000653755" "0" "10" "1" "152284854" "152284854" "subst" "0.301082" "02327" "FLG_000421" "g.152284854A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312378A>G" "" "benign" "" "0000653757" "0" "10" "1" "152285099" "152285099" "subst" "0.267414" "02327" "FLG_000422" "g.152285099C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312623C>T" "" "benign" "" "0000653758" "0" "10" "1" "152285181" "152285181" "subst" "0.0227162" "02327" "FLG_000304" "g.152285181G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312705G>T" "" "benign" "" "0000653759" "0" "10" "1" "152285188" "152285188" "subst" "0.025425" "02327" "FLG_000306" "g.152285188G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312712G>A" "" "benign" "" "0000653760" "0" "10" "1" "152285295" "152285295" "subst" "0.000747178" "02327" "FLG_000308" "g.152285295A>G" "" "" "" "FLG(NM_002016.1):c.2067T>C (p.S689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152312819A>G" "" "benign" "" "0000653762" "0" "10" "1" "152285930" "152285930" "subst" "0.271792" "02327" "FLG_000423" "g.152285930G>A" "" "" "" "FLG(NM_002016.2):c.1432C>T (p.P478S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313454G>A" "" "benign" "" "0000653763" "0" "10" "1" "152286002" "152286002" "subst" "0.298774" "02327" "FLG_000424" "g.152286002T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313526T>C" "" "benign" "" "0000653764" "0" "10" "1" "152286032" "152286032" "subst" "0.241476" "02327" "FLG_000425" "g.152286032C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313556C>T" "" "benign" "" "0000653765" "0" "10" "1" "152286107" "152286107" "subst" "0.0039066" "02327" "FLG_000426" "g.152286107C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313631C>T" "" "benign" "" "0000653766" "0" "10" "1" "152286126" "152286126" "subst" "0.116416" "02327" "FLG_000082" "g.152286126A>G" "" "" "" "FLG(NM_002016.2):c.1236T>C (p.R412=), FLG-AS1(NR_103778.1):n.192A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313650A>G" "" "benign" "" "0000653767" "0" "10" "1" "152286367" "152286367" "subst" "0.271138" "02327" "FLG_000427" "g.152286367C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152313891C>A" "" "benign" "" "0000653768" "0" "10" "1" "152287078" "152287078" "subst" "0.00381934" "02327" "FLG_000428" "g.152287078G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152314602G>A" "" "benign" "" "0000653769" "0" "10" "1" "152287213" "152287213" "subst" "0.00377993" "02327" "FLG_000429" "g.152287213T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152314737T>C" "" "benign" "" "0000675479" "0" "30" "1" "152278198" "152278198" "subst" "0.000101557" "01943" "FLG_000430" "g.152278198G>A" "" "" "" "FLG(NM_002016.1):c.9164C>T (p.T3055M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675480" "0" "30" "1" "152278245" "152278245" "subst" "7.36475E-6" "01943" "FLG_000431" "g.152278245G>T" "" "" "" "FLG(NM_002016.1):c.9117C>A (p.S3039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675481" "0" "30" "1" "152281724" "152281724" "subst" "0.00955494" "01804" "FLG_000407" "g.152281724G>T" "" "" "" "FLG(NM_002016.1):c.5638C>A (p.(His1880Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675482" "0" "90" "1" "152282576" "152282576" "subst" "0" "01943" "FLG_000002" "g.152282576G>A" "" "" "" "FLG(NM_002016.1):c.4786C>T (p.Q1596*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675483" "0" "30" "1" "152284772" "152284772" "subst" "4.06078E-6" "01804" "FLG_000432" "g.152284772A>G" "" "" "" "FLG(NM_002016.1):c.2590T>C (p.(Ser864Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675484" "0" "30" "1" "152285090" "152285090" "subst" "4.06062E-6" "01804" "FLG_000433" "g.152285090C>G" "" "" "" "FLG(NM_002016.1):c.2272G>C (p.(Asp758His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675485" "0" "50" "1" "152325698" "152325698" "del" "0.000528022" "02325" "FLG_000434" "g.152325698del" "" "" "" "FLG2(NM_001014342.3):c.4564delC (p.H1522Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675486" "0" "10" "1" "152327469" "152327699" "del" "8.86808E-6" "02325" "FLG_000328" "g.152327469_152327699del" "" "" "" "FLG2(NM_001014342.2):c.2595_2825del (p.(Ser869_Thr945del)), FLG2(NM_001014342.3):c.2595_2825del (p.S869_T945del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000687868" "0" "30" "1" "152275922" "152275922" "subst" "0.00147822" "01943" "FLG_000096" "g.152275922G>A" "" "" "" "FLG(NM_002016.1):c.11440C>T (p.R3814C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687869" "0" "30" "1" "152276164" "152276164" "subst" "0.0024247" "01943" "FLG_000097" "g.152276164C>A" "" "" "" "FLG(NM_002016.1):c.11198G>T (p.G3733V, p.(Gly3733Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687870" "0" "30" "1" "152276726" "152276726" "subst" "7.31042E-5" "02327" "FLG_000435" "g.152276726G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687871" "0" "30" "1" "152277051" "152277051" "subst" "0" "01943" "FLG_000436" "g.152277051G>A" "" "" "" "FLG(NM_002016.1):c.10311C>T (p.H3437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687872" "0" "90" "1" "152277241" "152277241" "del" "0" "01943" "FLG_000437" "g.152277241del" "" "" "" "FLG(NM_002016.1):c.10121delA (p.D3374Afs*17), FLG(NM_002016.2):c.10121delA (p.D3374Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687873" "0" "70" "1" "152279291" "152279291" "subst" "0" "01943" "FLG_000438" "g.152279291G>A" "" "" "" "FLG(NM_002016.1):c.8071C>T (p.Q2691*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000687874" "0" "10" "1" "152279642" "152279642" "subst" "0.0192225" "02327" "FLG_000439" "g.152279642G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000687875" "0" "30" "1" "152279952" "152279952" "subst" "5.27949E-5" "02327" "FLG_000440" "g.152279952A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687876" "0" "10" "1" "152279964" "152279964" "subst" "0.022682" "02327" "FLG_000441" "g.152279964C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000687877" "0" "30" "1" "152281053" "152281053" "subst" "0.00187216" "02327" "FLG_000051" "g.152281053G>T" "" "" "" "FLG(NM_002016.1):c.6309C>A (p.T2103=), FLG(NM_002016.2):c.6309C>A (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687878" "0" "30" "1" "152281180" "152281180" "subst" "2.84241E-5" "01943" "FLG_000442" "g.152281180G>A" "" "" "" "FLG(NM_002016.1):c.6182C>T (p.A2061V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687879" "0" "50" "1" "152282017" "152282017" "subst" "0" "01943" "FLG_000443" "g.152282017G>C" "" "" "" "FLG(NM_002016.1):c.5345C>G (p.T1782R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687880" "0" "30" "1" "152283530" "152283530" "subst" "0.00119808" "01943" "FLG_000444" "g.152283530T>C" "" "" "" "FLG(NM_002016.1):c.3832A>G (p.R1278G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687881" "0" "30" "1" "152283533" "152283533" "subst" "0.00103556" "01943" "FLG_000445" "g.152283533C>G" "" "" "" "FLG(NM_002016.1):c.3829G>C (p.E1277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687882" "0" "30" "1" "152283586" "152283586" "subst" "0.000150262" "01943" "FLG_000446" "g.152283586C>A" "" "" "" "FLG(NM_002016.1):c.3776G>T (p.G1259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687883" "0" "90" "1" "152283944" "152283944" "subst" "0.000199082" "01943" "FLG_000447" "g.152283944G>A" "" "" "" "FLG(NM_002016.1):c.3418C>T (p.R1140*), FLG(NM_002016.2):c.3418C>T (p.(Arg1140*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687884" "0" "30" "1" "152284655" "152284655" "subst" "0.00015029" "01943" "FLG_000286" "g.152284655T>C" "" "" "" "FLG(NM_002016.1):c.2707A>G (p.R903G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687885" "0" "30" "1" "152284896" "152284896" "subst" "1.21938E-5" "02327" "FLG_000448" "g.152284896A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687886" "0" "10" "1" "152284996" "152284996" "subst" "0.00175433" "02327" "FLG_000299" "g.152284996C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000687887" "0" "30" "1" "152329307" "152329307" "subst" "0.000329507" "02325" "FLG_000449" "g.152329307A>T" "" "" "" "FLG2(NM_001014342.3):c.955T>A (p.S319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716811" "0" "10" "1" "152275559" "152275559" "subst" "0.0246412" "02327" "FLG_000091" "g.152275559A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716812" "0" "30" "1" "152275688" "152275688" "subst" "0.00305809" "02327" "FLG_000007" "g.152275688G>A" "" "" "" "FLG(NM_002016.1):c.11674C>T (p.R3892W, p.(Arg3892Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716813" "0" "30" "1" "152275728" "152275728" "subst" "6.49767E-5" "01943" "FLG_000450" "g.152275728C>A" "" "" "" "FLG(NM_002016.1):c.11634G>T (p.R3878S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716814" "0" "50" "1" "152276197" "152276197" "subst" "0" "01943" "FLG_000451" "g.152276197G>T" "" "" "" "FLG(NM_002016.1):c.11165C>A (p.S3722Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716815" "0" "10" "1" "152276690" "152276690" "subst" "0.00187377" "02327" "FLG_000102" "g.152276690A>G" "" "" "" "FLG(NM_002016.1):c.10672T>C (p.S3558P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716816" "0" "30" "1" "152276712" "152276712" "subst" "4.06088E-6" "01943" "FLG_000452" "g.152276712T>C" "" "" "" "FLG(NM_002016.1):c.10650A>G (p.E3550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716817" "0" "10" "1" "152276976" "152276976" "subst" "0.00463877" "02327" "FLG_000453" "g.152276976G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716818" "0" "30" "1" "152277077" "152277077" "subst" "0.0003291" "01943" "FLG_000454" "g.152277077C>A" "" "" "" "FLG(NM_002016.1):c.10285G>T (p.E3429*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716819" "0" "30" "1" "152277100" "152277100" "subst" "0.00587867" "01943" "FLG_000368" "g.152277100C>T" "" "" "" "FLG(NM_002016.1):c.10262G>A (p.S3421N, p.(Ser3421Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716820" "0" "90" "1" "152277415" "152277415" "subst" "0.000450743" "02327" "FLG_000005" "g.152277415G>C" "" "" "" "FLG(NM_002016.1):c.9947C>G (p.S3316*), FLG(NM_002016.2):c.9947C>G (p.(Ser3316Ter), p.S3316*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716821" "0" "30" "1" "152277588" "152277588" "subst" "0.000195065" "01943" "FLG_000455" "g.152277588G>A" "" "" "" "FLG(NM_002016.1):c.9774C>T (p.H3258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716822" "0" "90" "1" "152277622" "152277622" "subst" "0.0014458" "01943" "FLG_000001" "g.152277622G>T" "" "" "" "FLG(NM_002016.1):c.9740C>A (p.S3247*), FLG(NM_002016.2):c.9740C>A (p.(Ser3247Ter), p.S3247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716823" "0" "90" "1" "152277622" "152277622" "subst" "0.0014458" "02329" "FLG_000001" "g.152277622G>T" "" "" "" "FLG(NM_002016.1):c.9740C>A (p.S3247*), FLG(NM_002016.2):c.9740C>A (p.(Ser3247Ter), p.S3247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716824" "0" "90" "1" "152277641" "152277641" "subst" "2.84259E-5" "01943" "FLG_000456" "g.152277641C>A" "" "" "" "FLG(NM_002016.1):c.9721G>T (p.G3241*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716825" "0" "10" "1" "152278100" "152278100" "subst" "0.00420494" "02327" "FLG_000457" "g.152278100C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716826" "0" "30" "1" "152278245" "152278245" "subst" "0.00698178" "01943" "FLG_000458" "g.152278245G>C" "" "" "" "FLG(NM_002016.1):c.9117C>G (p.S3039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716827" "0" "30" "1" "152278560" "152278560" "subst" "0.000418154" "02327" "FLG_000459" "g.152278560T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716828" "0" "30" "1" "152278702" "152278702" "subst" "0.00183375" "02327" "FLG_000033" "g.152278702T>G" "" "" "" "FLG(NM_002016.1):c.8660A>C (p.Q2887P, p.(Gln2887Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716829" "0" "30" "1" "152278876" "152278876" "subst" "0.00107092" "02327" "FLG_000152" "g.152278876C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716830" "0" "30" "1" "152279561" "152279561" "subst" "0.000979253" "01943" "FLG_000460" "g.152279561C>T" "" "" "" "FLG(NM_002016.1):c.7801G>A (p.D2601N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716831" "0" "90" "1" "152280023" "152280023" "subst" "0.00286376" "02325" "FLG_000173" "g.152280023G>A" "" "" "" "FLG(NM_002016.1):c.7339C>T (p.R2447*, p.(Arg2447*)), FLG(NM_002016.2):c.7339C>T (p.R2447*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716832" "0" "30" "1" "152280514" "152280514" "subst" "0.00181518" "01943" "FLG_000461" "g.152280514C>G" "" "" "" "FLG(NM_002016.1):c.6848G>C (p.R2283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716833" "0" "90" "1" "152280650" "152280650" "del" "0" "02325" "FLG_000462" "g.152280650del" "" "" "" "FLG(NM_002016.2):c.6715delC (p.R2239Gfs*180)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716834" "0" "10" "1" "152280758" "152280758" "subst" "0.00200279" "02327" "FLG_000187" "g.152280758C>T" "" "" "" "FLG(NM_002016.1):c.6604G>A (p.(Gly2202Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716835" "0" "10" "1" "152280759" "152280759" "subst" "0.241567" "02327" "FLG_000463" "g.152280759A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716836" "0" "10" "1" "152280932" "152280932" "subst" "0.00206717" "02327" "FLG_000190" "g.152280932G>A" "" "" "" "FLG(NM_002016.1):c.6430C>T (p.(Pro2144Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716837" "0" "50" "1" "152281002" "152281002" "subst" "3.24939E-5" "01943" "FLG_000191" "g.152281002A>C" "" "" "" "FLG(NM_002016.1):c.6360T>G (p.D2120E, p.(Asp2120Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716838" "0" "50" "1" "152281009" "152281009" "subst" "3.24892E-5" "01943" "FLG_000192" "g.152281009T>C" "" "" "" "FLG(NM_002016.1):c.6353A>G (p.H2118R, p.(His2118Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716839" "0" "50" "1" "152281253" "152281253" "subst" "0.000312683" "01943" "FLG_000464" "g.152281253G>A" "" "" "" "FLG(NM_002016.1):c.6109C>T (p.R2037*, p.(Arg2037*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716840" "0" "30" "1" "152281317" "152281317" "subst" "0" "01943" "FLG_000465" "g.152281317G>A" "" "" "" "FLG(NM_002016.1):c.6045C>T (p.D2015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716841" "0" "50" "1" "152281616" "152281616" "subst" "0.000198983" "01943" "FLG_000466" "g.152281616A>G" "" "" "" "FLG(NM_002016.1):c.5746T>C (p.S1916P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716842" "0" "30" "1" "152281907" "152281907" "subst" "1.64002E-5" "02325" "FLG_000220" "g.152281907A>G" "" "" "" "FLG(NM_002016.1):c.5455T>C (p.(Ser1819Pro)), FLG(NM_002016.2):c.5455T>C (p.S1819P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716843" "0" "10" "1" "152282007" "152282007" "subst" "0.00193315" "02327" "FLG_000222" "g.152282007G>C" "" "" "" "FLG(NM_002016.1):c.5355C>G (p.(Ser1785Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716844" "0" "30" "1" "152282624" "152282624" "subst" "0" "02327" "FLG_000467" "g.152282624C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716845" "0" "50" "1" "152282827" "152282827" "subst" "2.03037E-5" "01943" "FLG_000468" "g.152282827G>C" "" "" "" "FLG(NM_002016.1):c.4535C>G (p.S1512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716846" "0" "90" "1" "152282942" "152282942" "subst" "0.00021537" "02327" "FLG_000469" "g.152282942G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716847" "0" "10" "1" "152283122" "152283122" "subst" "0.00193699" "02327" "FLG_000238" "g.152283122C>T" "" "" "" "FLG(NM_002016.1):c.4240G>A (p.(Gly1414Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716848" "0" "10" "1" "152283426" "152283426" "subst" "0.00148621" "02327" "FLG_000242" "g.152283426A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716849" "0" "30" "1" "152283753" "152283753" "subst" "0.00272064" "02327" "FLG_000250" "g.152283753C>A" "" "" "" "FLG(NM_002016.1):c.3609G>T (p.R1203S, p.(Arg1203Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716850" "0" "90" "1" "152283811" "152283811" "subst" "0" "02327" "FLG_000470" "g.152283811G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716851" "0" "10" "1" "152284024" "152284024" "subst" "0.00194922" "02327" "FLG_000258" "g.152284024C>T" "" "" "" "FLG(NM_002016.1):c.3338G>A (p.(Arg1113His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716852" "0" "90" "1" "152284433" "152284433" "subst" "0.000117764" "01943" "FLG_000471" "g.152284433G>A" "" "" "" "FLG(NM_002016.1):c.2929C>T (p.Q977*, p.(Gln977*)), FLG(NM_002016.2):c.2929C>T (p.Q977*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716853" "0" "30" "1" "152284782" "152284782" "subst" "0.00284668" "02327" "FLG_000293" "g.152284782C>T" "" "" "" "FLG(NM_002016.1):c.2580G>A (p.S860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716854" "0" "50" "1" "152284886" "152284886" "subst" "0.000585176" "01943" "FLG_000295" "g.152284886G>A" "" "" "" "FLG(NM_002016.1):c.2476C>T (p.R826*, p.(Arg826Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716855" "0" "50" "1" "152284999" "152284999" "subst" "0.000138069" "01943" "FLG_000472" "g.152284999C>T" "" "" "" "FLG(NM_002016.1):c.2363G>A (p.R788Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716856" "0" "70" "1" "152285186" "152285192" "del" "0" "02329" "FLG_000305" "g.152285186_152285192del" "" "" "" "FLG(NM_002016.2):c.2175_2181delTGGGCAC (p.G726Dfs*70)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716857" "0" "50" "1" "152285315" "152285315" "subst" "4.06101E-5" "01943" "FLG_000473" "g.152285315G>A" "" "" "" "FLG(NM_002016.1):c.2047C>T (p.R683C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716858" "0" "10" "1" "152285370" "152285370" "subst" "0.00742723" "02327" "FLG_000474" "g.152285370G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716859" "0" "50" "1" "152285820" "152285820" "subst" "0" "02325" "FLG_000475" "g.152285820G>T" "" "" "" "FLG(NM_002016.2):c.1542C>A (p.D514E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716860" "0" "90" "1" "152285984" "152285984" "subst" "0" "02327" "FLG_000476" "g.152285984C>A" "" "" "" "FLG(NM_002016.2):c.1378G>T (p.E460*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716861" "0" "30" "1" "152287232" "152287232" "subst" "0.000395189" "01943" "FLG_000477" "g.152287232A>G" "" "" "" "FLG(NM_002016.1):c.139-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716862" "0" "50" "1" "152328711" "152328749" "del" "0" "02325" "FLG_000478" "g.152328711_152328749del" "" "" "" "FLG2(NM_001014342.3):c.1560_1598del (p.G522_H534del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000788025" "0" "99" "1" "152285077" "152285080" "del" "0.0128725" "00125" "FLG_000076" "g.152285077_152285080del" "" "Nagtzaam et al, submitted" "" "" "clinically diagnosed as X-linked ichthyosis but is ichthyosis vulgaris" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000788026" "0" "99" "1" "152283320" "152283320" "subst" "4.06068E-6" "00125" "FLG_000479" "g.152283320G>A" "" "Nagtzaam et al, submitted" "" "" "clinically diagnosed as X-linked ichthyosis but is ichthyosis vulgaris" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000790837" "3" "50" "1" "152277797" "152277797" "subst" "0.00218268" "00006" "FLG_000480" "g.152277797C>G" "0.025 in Bedouin" "{PMID:Reish 2016:27060491}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798780" "0" "50" "1" "152275403" "152275403" "subst" "0.00164516" "01943" "FLG_000482" "g.152275403C>T" "" "" "" "FLG(NM_002016.1):c.11959G>A (p.G3987S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798781" "0" "30" "1" "152277108" "152277108" "subst" "0" "01943" "FLG_000483" "g.152277108T>A" "" "" "" "FLG(NM_002016.1):c.10254A>T (p.A3418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798782" "0" "90" "1" "152277137" "152277137" "subst" "0.000146406" "02327" "FLG_000484" "g.152277137G>A" "" "" "" "FLG(NM_002016.2):c.10225C>T (p.(Arg3409*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798783" "0" "30" "1" "152277309" "152277309" "subst" "0.00387808" "01943" "FLG_000485" "g.152277309G>A" "" "" "" "FLG(NM_002016.1):c.10053C>T (p.D3351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798784" "0" "30" "1" "152280504" "152280504" "subst" "4.06118E-5" "01943" "FLG_000486" "g.152280504G>A" "" "" "" "FLG(NM_002016.1):c.6858C>T (p.H2286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798785" "0" "30" "1" "152281339" "152281339" "subst" "1.21823E-5" "01943" "FLG_000487" "g.152281339T>C" "" "" "" "FLG(NM_002016.1):c.6023A>G (p.H2008R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798786" "0" "30" "1" "152282187" "152282187" "subst" "2.43679E-5" "01943" "FLG_000488" "g.152282187G>A" "" "" "" "FLG(NM_002016.1):c.5175C>T (p.H1725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798787" "0" "30" "1" "152282590" "152282590" "subst" "0.000475162" "02325" "FLG_000489" "g.152282590C>T" "" "" "" "FLG(NM_002016.2):c.4772G>A (p.G1591E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798788" "0" "30" "1" "152283373" "152283373" "subst" "0" "01943" "FLG_000490" "g.152283373C>A" "" "" "" "FLG(NM_002016.1):c.3989G>T (p.G1330V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798789" "0" "90" "1" "152283914" "152283914" "subst" "3.25002E-5" "02327" "FLG_000491" "g.152283914G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798790" "0" "90" "1" "152284041" "152284041" "del" "0.000702515" "02325" "FLG_000344" "g.152284041del" "" "" "" "FLG(NM_002016.2):c.3321del (p.(Gly1109GlufsTer13)), FLG(NM_002016.2):c.3321delA (p.G1109Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798791" "0" "30" "1" "152284305" "152284305" "subst" "0.00125884" "01943" "FLG_000492" "g.152284305C>T" "" "" "" "FLG(NM_002016.1):c.3057G>A (p.A1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798792" "0" "30" "1" "152284580" "152284580" "subst" "4.06081E-6" "01943" "FLG_000493" "g.152284580C>A" "" "" "" "FLG(NM_002016.1):c.2782G>T (p.A928S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798793" "0" "30" "1" "152285463" "152285463" "subst" "4.06072E-6" "01943" "FLG_000494" "g.152285463G>A" "" "" "" "FLG(NM_002016.1):c.1899C>T (p.D633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798794" "0" "90" "1" "152285648" "152285648" "subst" "9.74564E-5" "01943" "FLG_000495" "g.152285648G>A" "" "" "" "FLG(NM_002016.1):c.1714C>T (p.R572*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798795" "0" "90" "1" "152285861" "152285861" "subst" "0.00936565" "01943" "FLG_000004" "g.152285861G>A" "" "" "" "FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798796" "0" "50" "1" "152286158" "152286158" "subst" "4.06118E-6" "01943" "FLG_000496" "g.152286158G>A" "" "" "" "FLG(NM_002016.1):c.1204C>T (p.R402C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798797" "0" "50" "1" "152324432" "152324432" "subst" "0.000190899" "02325" "FLG_000497" "g.152324432C>T" "" "" "" "FLG2(NM_001014342.3):c.5830G>A (p.G1944R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848300" "0" "90" "1" "152277415" "152277415" "subst" "0.000450743" "01943" "FLG_000005" "g.152277415G>C" "" "" "" "FLG(NM_002016.1):c.9947C>G (p.S3316*), FLG(NM_002016.2):c.9947C>G (p.(Ser3316Ter), p.S3316*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848301" "0" "90" "1" "152279798" "152279798" "subst" "1.2182E-5" "02325" "FLG_000509" "g.152279798G>A" "" "" "" "FLG(NM_002016.2):c.7564C>T (p.Q2522*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848302" "0" "50" "1" "152281732" "152281732" "subst" "8.12143E-6" "02325" "FLG_000213" "g.152281732C>T" "" "" "" "FLG(NM_002016.1):c.5630G>A (p.(Gly1877Asp)), FLG(NM_002016.2):c.5630G>A (p.G1877D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848303" "0" "90" "1" "152283320" "152283320" "subst" "4.06068E-6" "02327" "FLG_000479" "g.152283320G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848304" "0" "30" "1" "152283655" "152283655" "subst" "8.52813E-5" "01943" "FLG_000522" "g.152283655C>T" "" "" "" "FLG(NM_002016.1):c.3707G>A (p.R1236H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848305" "0" "90" "1" "152284886" "152284886" "subst" "0.000585176" "02327" "FLG_000295" "g.152284886G>A" "" "" "" "FLG(NM_002016.1):c.2476C>T (p.R826*, p.(Arg826Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848306" "0" "50" "1" "152285648" "152285648" "subst" "2.03034E-5" "01943" "FLG_000532" "g.152285648G>C" "" "" "" "FLG(NM_002016.1):c.1714C>G (p.R572G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848307" "0" "90" "1" "152285984" "152285984" "subst" "0" "02325" "FLG_000476" "g.152285984C>A" "" "" "" "FLG(NM_002016.2):c.1378G>T (p.E460*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848308" "0" "50" "1" "152287808" "152287808" "subst" "8.53943E-5" "01943" "FLG_000536" "g.152287808C>T" "" "" "" "FLG(NM_002016.1):c.125G>A (p.R42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848309" "0" "30" "1" "152329554" "152329554" "subst" "0.000557282" "01943" "FLG_000537" "g.152329554A>G" "" "" "" "FLG2(NM_001014342.2):c.708T>C (p.G236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848310" "0" "50" "1" "152329615" "152329615" "subst" "4.06795E-6" "01943" "FLG_000538" "g.152329615G>A" "" "" "" "FLG2(NM_001014342.2):c.647C>T (p.S216F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856974" "0" "30" "1" "152275621" "152275621" "subst" "3.24892E-5" "01943" "FLG_000498" "g.152275621T>A" "" "" "" "FLG(NM_002016.1):c.11741A>T (p.Q3914L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856975" "0" "50" "1" "152275740" "152275740" "subst" "0.000211173" "01943" "FLG_000499" "g.152275740C>G" "" "" "" "FLG(NM_002016.1):c.11622G>C (p.E3874D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856976" "0" "50" "1" "152276159" "152276159" "subst" "9.3417E-5" "01943" "FLG_000500" "g.152276159G>C" "" "" "" "FLG(NM_002016.1):c.11203C>G (p.Q3735E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856977" "0" "30" "1" "152277003" "152277003" "subst" "0.00202321" "02325" "FLG_000501" "g.152277003C>T" "" "" "" "FLG(NM_002016.2):c.10359G>A (p.S3453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856978" "0" "30" "1" "152277014" "152277014" "subst" "0" "01943" "FLG_000110" "g.152277014A>G" "" "" "" "FLG(NM_002016.1):c.10348T>C (p.Y3450H, p.(Tyr3450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856979" "0" "30" "1" "152277021" "152277021" "subst" "0.000212359" "01943" "FLG_000502" "g.152277021T>C" "" "" "" "FLG(NM_002016.1):c.10341A>G (p.G3447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856980" "0" "30" "1" "152277044" "152277044" "subst" "0.000184042" "01943" "FLG_000503" "g.152277044A>G" "" "" "" "FLG(NM_002016.1):c.10318T>C (p.S3440P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856981" "0" "50" "1" "152277252" "152277252" "subst" "3.24855E-5" "01943" "FLG_000504" "g.152277252C>A" "" "" "" "FLG(NM_002016.1):c.10110G>T (p.E3370D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856982" "0" "30" "1" "152277528" "152277528" "subst" "0.000361512" "01943" "FLG_000505" "g.152277528G>A" "" "" "" "FLG(NM_002016.1):c.9834C>T (p.H3278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856983" "0" "30" "1" "152277645" "152277645" "subst" "0.000211162" "01943" "FLG_000506" "g.152277645A>T" "" "" "" "FLG(NM_002016.1):c.9717T>A (p.H3239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856984" "0" "30" "1" "152278336" "152278336" "subst" "0.000227939" "01943" "FLG_000507" "g.152278336C>T" "" "" "" "FLG(NM_002016.1):c.9026G>A (p.R3009Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856985" "0" "30" "1" "152278956" "152278956" "subst" "0.00178426" "02325" "FLG_000036" "g.152278956G>A" "" "" "" "FLG(NM_002016.1):c.8406C>T (p.H2802=), FLG(NM_002016.2):c.8406C>T (p.H2802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856986" "0" "30" "1" "152279196" "152279196" "subst" "0.0015413" "02325" "FLG_000158" "g.152279196C>T" "" "" "" "FLG(NM_002016.1):c.8166G>A (p.E2722=), FLG(NM_002016.2):c.8166G>A (p.E2722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856987" "0" "30" "1" "152279308" "152279308" "subst" "0.000277465" "01943" "FLG_000508" "g.152279308C>T" "" "" "" "FLG(NM_002016.1):c.8054G>A (p.R2685Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856988" "0" "30" "1" "152279406" "152279406" "subst" "0.273748" "02325" "FLG_000382" "g.152279406T>G" "" "" "" "FLG(NM_002016.2):c.7956A>C (p.E2652D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856989" "0" "30" "1" "152279420" "152279420" "subst" "3.39029E-5" "01943" "FLG_000164" "g.152279420A>G" "" "" "" "FLG(NM_002016.1):c.7942T>C (p.S2648P, p.(Ser2648Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856990" "0" "90" "1" "152280023" "152280023" "subst" "0.00286376" "01943" "FLG_000173" "g.152280023G>A" "" "" "" "FLG(NM_002016.1):c.7339C>T (p.R2447*, p.(Arg2447*)), FLG(NM_002016.2):c.7339C>T (p.R2447*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856991" "0" "30" "1" "152280043" "152280043" "subst" "0.000101541" "01943" "FLG_000174" "g.152280043C>G" "" "" "" "FLG(NM_002016.1):c.7319G>C (p.G2440A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856992" "0" "30" "1" "152280204" "152280204" "subst" "7.32833E-5" "01943" "FLG_000510" "g.152280204G>A" "" "" "" "FLG(NM_002016.1):c.7158C>T (p.H2386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856993" "0" "50" "1" "152280274" "152280274" "subst" "0.00105532" "02325" "FLG_000177" "g.152280274G>T" "" "" "" "FLG(NM_002016.1):c.7088C>A (p.(Ser2363Tyr)), FLG(NM_002016.2):c.7088C>A (p.S2363Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856994" "0" "30" "1" "152280489" "152280489" "subst" "0.000211154" "01943" "FLG_000511" "g.152280489A>C" "" "" "" "FLG(NM_002016.1):c.6873T>G (p.G2291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856995" "0" "30" "1" "152280672" "152280672" "subst" "0" "01943" "FLG_000512" "g.152280672T>A" "" "" "" "FLG(NM_002016.1):c.6690A>T (p.S2230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856996" "0" "50" "1" "152281058" "152281058" "subst" "0.0002071" "01943" "FLG_000513" "g.152281058A>G" "" "" "" "FLG(NM_002016.1):c.6304T>C (p.S2102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856997" "0" "30" "1" "152281297" "152281297" "subst" "0.000186799" "01943" "FLG_000514" "g.152281297A>G" "" "" "" "FLG(NM_002016.1):c.6065T>C (p.I2022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856998" "0" "30" "1" "152281522" "152281522" "subst" "0.000203227" "01943" "FLG_000203" "g.152281522C>T" "" "" "" "FLG(NM_002016.1):c.5840G>A (p.W1947*, p.(Trp1947Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856999" "0" "30" "1" "152281523" "152281523" "subst" "0.000223556" "01943" "FLG_000204" "g.152281523A>G" "" "" "" "FLG(NM_002016.1):c.5839T>C (p.W1947R, p.(Trp1947Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857000" "0" "50" "1" "152281550" "152281550" "subst" "4.06068E-6" "02325" "FLG_000515" "g.152281550C>T" "" "" "" "FLG(NM_002016.2):c.5812G>A (p.A1938T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857001" "0" "50" "1" "152281556" "152281556" "subst" "0.00111266" "01943" "FLG_000516" "g.152281556C>G" "" "" "" "FLG(NM_002016.1):c.5806G>C (p.G1936R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857002" "0" "90" "1" "152281970" "152281970" "subst" "0.00012592" "01943" "FLG_000517" "g.152281970G>A" "" "" "" "FLG(NM_002016.1):c.5392C>T (p.R1798*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857003" "0" "30" "1" "152281979" "152281979" "subst" "0.00213644" "01943" "FLG_000518" "g.152281979C>T" "" "" "" "FLG(NM_002016.1):c.5383G>A (p.E1795K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857004" "0" "30" "1" "152282031" "152282031" "subst" "0.000751318" "01943" "FLG_000519" "g.152282031G>A" "" "" "" "FLG(NM_002016.1):c.5331C>T (p.S1777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857005" "0" "30" "1" "152282443" "152282443" "subst" "2.03047E-5" "01943" "FLG_000520" "g.152282443C>T" "" "" "" "FLG(NM_002016.1):c.4919G>A (p.R1640K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857006" "0" "30" "1" "152283466" "152283466" "subst" "0.00158394" "01943" "FLG_000243" "g.152283466C>T" "" "" "" "FLG(NM_002016.1):c.3896G>A (p.R1299Q, p.(Arg1299Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857007" "0" "30" "1" "152283549" "152283549" "subst" "0.000215218" "01943" "FLG_000521" "g.152283549G>A" "" "" "" "FLG(NM_002016.1):c.3813C>T (p.S1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857008" "0" "50" "1" "152283943" "152283943" "subst" "0.000211236" "01943" "FLG_000523" "g.152283943C>G" "" "" "" "FLG(NM_002016.1):c.3419G>C (p.R1140P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857009" "0" "50" "1" "152284289" "152284289" "subst" "0.0020588" "01943" "FLG_000524" "g.152284289C>T" "" "" "" "FLG(NM_002016.1):c.3073G>A (p.A1025T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857010" "0" "90" "1" "152284387" "152284388" "del" "0" "02326" "FLG_000525" "g.152284387_152284388del" "" "" "" "FLG(NM_002016.1):c.2976_2977delAG (p.R992Sfs*31), FLG(NM_002016.2):c.2976_2977del (p.(Arg992Serfs*31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857011" "0" "30" "1" "152284707" "152284707" "subst" "8.12163E-6" "01943" "FLG_000526" "g.152284707C>T" "" "" "" "FLG(NM_002016.1):c.2655G>A (p.G885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857012" "0" "90" "1" "152284876" "152284892" "dup" "0" "01943" "FLG_000527" "g.152284876_152284892dup" "" "" "" "FLG(NM_002016.1):c.2477_2493dupGAGACAACTCCAGGCAC (p.S832Efs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857013" "0" "30" "1" "152284902" "152284902" "subst" "0.000243877" "01943" "FLG_000528" "g.152284902G>C" "" "" "" "FLG(NM_002016.1):c.2460C>G (p.S820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857014" "0" "30" "1" "152284996" "152284996" "subst" "4.06095E-6" "01943" "FLG_000529" "g.152284996C>A" "" "" "" "FLG(NM_002016.1):c.2366G>T (p.R789L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857015" "0" "50" "1" "152285186" "152285186" "subst" "0.000211164" "01943" "FLG_000530" "g.152285186C>G" "" "" "" "FLG(NM_002016.1):c.2176G>C (p.G726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857016" "0" "30" "1" "152285625" "152285625" "subst" "0.000592879" "01943" "FLG_000531" "g.152285625G>A" "" "" "" "FLG(NM_002016.1):c.1737C>T (p.D579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857017" "0" "30" "1" "152285871" "152285871" "subst" "0.000138211" "01943" "FLG_000533" "g.152285871G>A" "" "" "" "FLG(NM_002016.1):c.1491C>T (p.H497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857018" "0" "90" "1" "152285878" "152285878" "subst" "1.2186E-5" "01943" "FLG_000534" "g.152285878G>T" "" "" "" "FLG(NM_002016.1):c.1484C>A (p.S495*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857019" "0" "90" "1" "152287794" "152287794" "subst" "8.13233E-6" "01943" "FLG_000535" "g.152287794C>G" "" "" "" "FLG(NM_002016.1):c.138+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000869068" "1" "70" "1" "152285861" "152285861" "subst" "0.00936565" "00006" "FLG_000004" "g.152285861G>A" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PP5" "Germline" "" "" "0" "" "" "g.152313385G>A" "" "likely pathogenic (recessive)" "" "0000869103" "2" "70" "1" "152285081" "152285084" "del" "0" "00006" "FLG_000076" "g.152285081_152285084del" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PP5" "Germline" "" "" "0" "" "" "g.152312605_152312608del" "" "likely pathogenic (recessive)" "" "0000873550" "0" "70" "1" "152281521" "152281521" "subst" "2.84257E-5" "00000" "FLG_000539" "g.152281521C>T" "178" "{PMID:Sun 2018:30076350}" "" "FLG (NM_002016.1):c.5841G>A(p.W1947*)/c.3321delA(p.G1109Efs*13)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.152309045C>T" "" "likely pathogenic" "" "0000873551" "0" "70" "1" "152284041" "152284041" "del" "0.000702515" "00000" "FLG_000344" "g.152284041del" "178" "{PMID:Sun 2018:30076350}" "" "FLG (NM_002016.1):c.5841G>A(p.W1947*)/c.3321delA(p.G1109Efs*13)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.152311565del" "" "likely pathogenic" "" "0000873552" "0" "70" "1" "152284041" "152284041" "del" "0.000702515" "00000" "FLG_000344" "g.152284041del" "179" "{PMID:Sun 2018:30076350}" "" "FLG (NM_002016.1):c.5841G>A(p.W1947*)/c.3321delA(p.G1109Efs*13)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.152311565del" "" "likely pathogenic" "" "0000873557" "0" "70" "1" "152283457" "152283457" "subst" "0.0001259" "00000" "FLG_000540" "g.152283457G>T" "183" "{PMID:Sun 2018:30076350}" "" "FLG(NM_002016.1):c.3905C>A(p.S1302*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.152310981G>T" "" "likely pathogenic" "" "0000873558" "0" "70" "1" "152283457" "152283457" "subst" "0.0001259" "00000" "FLG_000540" "g.152283457G>T" "184" "{PMID:Sun 2018:30076350}" "" "FLG(NM_002016.1):c.3905C>A(p.S1302*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.152310981G>T" "" "likely pathogenic" "" "0000873559" "0" "70" "1" "152283457" "152283457" "subst" "0.0001259" "00000" "FLG_000540" "g.152283457G>T" "185" "{PMID:Sun 2018:30076350}" "" "FLG(NM_002016.1):c.3905C>A(p.S1302*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.152310981G>T" "" "likely pathogenic" "" "0000881221" "0" "70" "1" "152276315" "152276315" "del" "0" "02300" "FLG_000541" "g.152276315del" "" "{PMID:Marinakis 2021:34008892}" "" "c.11047delG" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "rs1365780833" "0" "" "" "g.152303839del" "" "likely pathogenic (dominant)" "ACMG" "0000882772" "0" "50" "1" "152276453" "152276453" "subst" "8.17287E-6" "02325" "FLG_000099" "g.152276453A>T" "" "" "" "FLG(NM_002016.2):c.10909T>A (p.S3637T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882773" "0" "50" "1" "152276885" "152276885" "subst" "8.53367E-5" "02325" "FLG_000542" "g.152276885C>T" "" "" "" "FLG(NM_002016.2):c.10477G>A (p.E3493K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882774" "0" "90" "1" "152277415" "152277415" "subst" "0.000450743" "02329" "FLG_000005" "g.152277415G>C" "" "" "" "FLG(NM_002016.1):c.9947C>G (p.S3316*), FLG(NM_002016.2):c.9947C>G (p.(Ser3316Ter), p.S3316*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882775" "0" "90" "1" "152277622" "152277622" "subst" "0.0014458" "02325" "FLG_000001" "g.152277622G>T" "" "" "" "FLG(NM_002016.1):c.9740C>A (p.S3247*), FLG(NM_002016.2):c.9740C>A (p.(Ser3247Ter), p.S3247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882776" "0" "90" "1" "152280331" "152280331" "subst" "0.000473099" "02325" "FLG_000543" "g.152280331G>C" "" "" "" "FLG(NM_002016.2):c.7031C>G (p.(Ser2344Ter), p.S2344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882777" "0" "50" "1" "152280341" "152280341" "subst" "5.28786E-5" "02325" "FLG_000179" "g.152280341A>T" "" "" "" "FLG(NM_002016.2):c.7021T>A (p.S2341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882778" "0" "50" "1" "152281017" "152281017" "subst" "4.06147E-5" "02325" "FLG_000544" "g.152281017T>A" "" "" "" "FLG(NM_002016.2):c.6345A>T (p.Q2115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882779" "0" "30" "1" "152281053" "152281053" "subst" "0.00187216" "02325" "FLG_000051" "g.152281053G>T" "" "" "" "FLG(NM_002016.1):c.6309C>A (p.T2103=), FLG(NM_002016.2):c.6309C>A (p.T2103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882780" "0" "90" "1" "152281520" "152281520" "subst" "0" "02327" "FLG_000545" "g.152281520C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882781" "0" "30" "1" "152281752" "152281752" "subst" "0.00194516" "02325" "FLG_000546" "g.152281752A>G" "" "" "" "FLG(NM_002016.2):c.5610T>C (p.N1870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882782" "0" "30" "1" "152281947" "152281947" "subst" "0.00197405" "02325" "FLG_000547" "g.152281947C>T" "" "" "" "FLG(NM_002016.2):c.5415G>A (p.A1805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882783" "0" "30" "1" "152283811" "152283811" "subst" "0.0265936" "02325" "FLG_000251" "g.152283811G>A" "" "" "" "FLG(NM_002016.2):c.3551C>T (p.S1184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882784" "0" "90" "1" "152284433" "152284433" "subst" "0.000117764" "02325" "FLG_000471" "g.152284433G>A" "" "" "" "FLG(NM_002016.1):c.2929C>T (p.Q977*, p.(Gln977*)), FLG(NM_002016.2):c.2929C>T (p.Q977*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882785" "0" "30" "1" "152284497" "152284497" "subst" "0.000877012" "02325" "FLG_000548" "g.152284497A>G" "" "" "" "FLG(NM_002016.2):c.2865T>C (p.H955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882786" "0" "50" "1" "152284858" "152284858" "subst" "4.06312E-6" "02325" "FLG_000549" "g.152284858T>G" "" "" "" "FLG(NM_002016.2):c.2504A>C (p.Q835P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882787" "0" "30" "1" "152285907" "152285907" "subst" "0.00194138" "02325" "FLG_000550" "g.152285907G>A" "" "" "" "FLG(NM_002016.2):c.1455C>T (p.T485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882788" "0" "30" "1" "152285930" "152285930" "subst" "0.271792" "02325" "FLG_000423" "g.152285930G>A" "" "" "" "FLG(NM_002016.2):c.1432C>T (p.P478S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882789" "0" "50" "1" "152287153" "152287153" "subst" "0" "02325" "FLG_000551" "g.152287153T>G" "" "" "" "FLG(NM_002016.2):c.209A>C (p.D70A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882790" "0" "10" "1" "152325241" "152325241" "subst" "0.0019375" "02325" "FLG_000552" "g.152325241T>G" "" "" "" "FLG2(NM_001014342.3):c.5021A>C (p.H1674P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882791" "0" "50" "1" "152327469" "152327469" "subst" "0.000150757" "02325" "FLG_000553" "g.152327469C>A" "" "" "" "FLG2(NM_001014342.3):c.2793G>T (p.Q931H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910777" "0" "90" "1" "152277241" "152277241" "del" "0" "02325" "FLG_000437" "g.152277241del" "" "" "" "FLG(NM_002016.1):c.10121delA (p.D3374Afs*17), FLG(NM_002016.2):c.10121delA (p.D3374Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910778" "0" "10" "1" "152281621" "152281621" "subst" "0.0678601" "02325" "FLG_000405" "g.152281621T>C" "" "" "" "FLG(NM_002016.2):c.5741A>G (p.Q1914R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910779" "0" "50" "1" "152283113" "152283113" "subst" "0.000194914" "02325" "FLG_000237" "g.152283113C>T" "" "" "" "FLG(NM_002016.1):c.4249G>A (p.G1417R, p.(Gly1417Arg)), FLG(NM_002016.2):c.4249G>A (p.G1417R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922948" "0" "90" "1" "152276378" "152276378" "del" "0" "02325" "FLG_000554" "g.152276378del" "" "" "" "FLG(NM_002016.2):c.10984delA (p.S3662Vfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922949" "0" "50" "1" "152277245" "152277245" "subst" "4.06072E-5" "02325" "FLG_000555" "g.152277245G>A" "" "" "" "FLG(NM_002016.2):c.10117C>T (p.R3373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922950" "0" "90" "1" "152282947" "152282948" "ins" "0" "02327" "FLG_000556" "g.152282947_152282948insAGAGCTGAGTGCCTAGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922951" "0" "50" "1" "152284087" "152284087" "subst" "0.000259884" "02325" "FLG_000260" "g.152284087T>G" "" "" "" "FLG(NM_002016.1):c.3275A>C (p.(Asp1092Ala)), FLG(NM_002016.2):c.3275A>C (p.D1092A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922952" "0" "90" "1" "152284595" "152284595" "dup" "0" "02327" "FLG_000557" "g.152284595dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922953" "0" "90" "1" "152285081" "152285084" "del" "0" "02327" "FLG_000076" "g.152285081_152285084del" "" "" "" "FLG(NM_002016.1):c.2282_2285delCAGT (p.S761Cfs*36), FLG(NM_002016.2):c.2282_2285del (p.(Ser761CysfsTer36)), FLG(NM_002016.2):c.2282_2285delCAGT (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928010" "0" "50" "1" "152275781" "152275781" "subst" "2.03049E-5" "02325" "FLG_000558" "g.152275781A>T" "" "" "" "FLG(NM_002016.2):c.11581T>A (p.S3861T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928012" "0" "50" "1" "152276476" "152276476" "subst" "0.000223907" "02325" "FLG_000560" "g.152276476T>C" "" "" "" "FLG(NM_002016.2):c.10886A>G (p.H3629R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928013" "0" "90" "1" "152280095" "152280096" "del" "0" "02325" "FLG_000561" "g.152280095_152280096del" "" "" "" "FLG(NM_002016.1):c.7267_7268delCA (p.(Gln2423fs)), FLG(NM_002016.2):c.7267_7268delCA (p.Q2423Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928015" "0" "50" "1" "152283670" "152283670" "subst" "0.00038171" "02325" "FLG_000248" "g.152283670C>A" "" "" "" "FLG(NM_002016.2):c.3692G>T (p.R1231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928016" "0" "50" "1" "152284903" "152284903" "subst" "0.000385965" "02325" "FLG_000296" "g.152284903G>T" "" "" "" "FLG(NM_002016.2):c.2459C>A (p.S820Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928017" "0" "90" "1" "152285091" "152285091" "del" "0" "02327" "FLG_000562" "g.152285091del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928018" "0" "50" "1" "152285571" "152285571" "subst" "0.000381704" "02325" "FLG_000079" "g.152285571G>C" "" "" "" "FLG(NM_002016.2):c.1791C>G (p.S597R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935146" "21" "90" "1" "152285861" "152285861" "subst" "0.00936565" "00006" "FLG_000004" "g.152285861G>A" "" "" "" "" "variant associated with dermatities showing incomplete penetrance and variable expressivity" "Germline" "" "" "0" "" "" "g.152313385G>A" "" "pathogenic (!)" "" "0000946976" "0" "90" "1" "152278277" "152278277" "subst" "7.54532E-5" "02327" "FLG_000563" "g.152278277G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946977" "0" "90" "1" "152278450" "152278450" "del" "0" "02327" "FLG_000564" "g.152278450del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946978" "0" "90" "1" "152280644" "152280644" "subst" "4.06091E-6" "02327" "FLG_000565" "g.152280644C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946979" "0" "90" "1" "152280995" "152280995" "subst" "6.09191E-5" "02327" "FLG_000566" "g.152280995G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946980" "0" "50" "1" "152283306" "152283306" "subst" "0.000426375" "02325" "FLG_000567" "g.152283306A>T" "" "" "" "FLG(NM_002016.2):c.4056T>A (p.S1352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946981" "0" "90" "1" "152285648" "152285648" "subst" "9.74564E-5" "02327" "FLG_000495" "g.152285648G>A" "" "" "" "FLG(NM_002016.1):c.1714C>T (p.R572*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000960514" "0" "50" "1" "152277184" "152277184" "subst" "0.00125494" "02325" "FLG_000568" "g.152277184T>C" "" "" "" "FLG(NM_002016.2):c.10178A>G (p.H3393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960521" "0" "10" "1" "152283267" "152283267" "subst" "0.011597" "02325" "FLG_000415" "g.152283267T>A" "" "" "" "FLG(NM_002016.2):c.4095A>T (p.A1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973299" "0" "90" "1" "152275298" "152275298" "subst" "0.00133703" "01804" "FLG_000085" "g.152275298T>A" "" "" "" "FLG(NM_002016.2):c.12064A>T (p.(Lys4022Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973300" "0" "50" "1" "152275481" "152275481" "subst" "0" "01804" "FLG_000569" "g.152275481C>A" "" "" "" "FLG(NM_002016.2):c.11881G>T (p.(Glu3961*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973301" "0" "50" "1" "152275535" "152275535" "subst" "0" "01804" "FLG_000570" "g.152275535C>A" "" "" "" "FLG(NM_002016.2):c.11827G>T (p.(Gly3943Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973302" "0" "50" "1" "152275795" "152275795" "subst" "0.000150262" "01804" "FLG_000571" "g.152275795C>T" "" "" "" "FLG(NM_002016.2):c.11567G>A (p.(Ser3856Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973303" "0" "90" "1" "152275910" "152275910" "subst" "3.24876E-5" "01804" "FLG_000572" "g.152275910G>A" "" "" "" "FLG(NM_002016.2):c.11452C>T (p.(Gln3818Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973304" "0" "30" "1" "152276880" "152276880" "subst" "0.0010891" "01804" "FLG_000573" "g.152276880T>C" "" "" "" "FLG(NM_002016.2):c.10482A>G (p.(Gln3494=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973305" "0" "90" "1" "152277137" "152277137" "subst" "0.000146406" "01804" "FLG_000484" "g.152277137G>A" "" "" "" "FLG(NM_002016.2):c.10225C>T (p.(Arg3409*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973306" "0" "10" "1" "152277403" "152277403" "subst" "0.000759477" "01804" "FLG_000574" "g.152277403C>T" "" "" "" "FLG(NM_002016.2):c.9959G>A (p.(Arg3320His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973307" "0" "10" "1" "152277406" "152277406" "subst" "0.000735127" "01804" "FLG_000575" "g.152277406G>C" "" "" "" "FLG(NM_002016.2):c.9956C>G (p.(Pro3319Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973308" "0" "30" "1" "152277407" "152277407" "subst" "0.000735115" "01804" "FLG_000576" "g.152277407G>C" "" "" "" "FLG(NM_002016.2):c.9955C>G (p.(Pro3319Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973309" "0" "90" "1" "152277415" "152277415" "subst" "0.000450743" "01804" "FLG_000005" "g.152277415G>C" "" "" "" "FLG(NM_002016.1):c.9947C>G (p.S3316*), FLG(NM_002016.2):c.9947C>G (p.(Ser3316Ter), p.S3316*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973310" "0" "50" "1" "152277622" "152277622" "subst" "0.0014458" "01804" "FLG_000001" "g.152277622G>T" "" "" "" "FLG(NM_002016.1):c.9740C>A (p.S3247*), FLG(NM_002016.2):c.9740C>A (p.(Ser3247Ter), p.S3247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973311" "0" "90" "1" "152279525" "152279525" "subst" "0.000183528" "01804" "FLG_000577" "g.152279525T>A" "" "" "" "FLG(NM_002016.2):c.7837A>T (p.(Arg2613Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973312" "0" "30" "1" "152279734" "152279734" "subst" "1.22149E-5" "01804" "FLG_000578" "g.152279734C>T" "" "" "" "FLG(NM_002016.1):c.7628G>A (p.(Ser2543Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973313" "0" "50" "1" "152279875" "152279875" "del" "2.84243E-5" "01804" "FLG_000579" "g.152279875del" "" "" "" "FLG(NM_002016.1):c.7487delC (p.(Thr2496AsnfsTer104))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973314" "0" "50" "1" "152281222" "152281222" "subst" "6.09102E-5" "01804" "FLG_000580" "g.152281222C>T" "" "" "" "FLG(NM_002016.2):c.6140G>A (p.(Ser2047Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973315" "0" "50" "1" "152281329" "152281331" "del" "0" "01804" "FLG_000581" "g.152281329_152281331del" "" "" "" "FLG(NM_002016.2):c.6032_6034del (p.(Leu2011del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973316" "0" "50" "1" "152283275" "152283276" "ins" "0" "01804" "FLG_000582" "g.152283275_152283276insGAG" "" "" "" "FLG(NM_002016.2):c.4087_4088insTCC (p.(Gln1362_Gln1363insLeu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973317" "0" "50" "1" "152283475" "152283475" "subst" "2.03037E-5" "01804" "FLG_000583" "g.152283475C>T" "" "" "" "FLG(NM_002016.2):c.3887G>A (p.(Gly1296Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973318" "0" "50" "1" "152283614" "152283614" "subst" "0" "01804" "FLG_000584" "g.152283614A>G" "" "" "" "FLG(NM_002016.1):c.3748T>C (p.(Ser1250Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973319" "0" "30" "1" "152283646" "152283646" "subst" "0.000523841" "01804" "FLG_000247" "g.152283646T>G" "" "" "" "FLG(NM_002016.1):c.3716A>C (p.E1239A), FLG(NM_002016.2):c.3716A>C (p.(Glu1239Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973320" "0" "50" "1" "152283815" "152283815" "subst" "0" "01804" "FLG_000585" "g.152283815G>A" "" "" "" "FLG(NM_002016.2):c.3547C>T (p.(Gln1183*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973321" "0" "30" "1" "152283926" "152283926" "subst" "0.000186851" "01804" "FLG_000066" "g.152283926G>T" "" "" "" "FLG(NM_002016.1):c.3436C>A (p.H1146N), FLG(NM_002016.2):c.3436C>A (p.(His1146Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973322" "0" "90" "1" "152284041" "152284041" "del" "0.000702515" "01804" "FLG_000344" "g.152284041del" "" "" "" "FLG(NM_002016.2):c.3321del (p.(Gly1109GlufsTer13)), FLG(NM_002016.2):c.3321delA (p.G1109Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973323" "0" "30" "1" "152284340" "152284340" "subst" "0" "01804" "FLG_000586" "g.152284340G>T" "" "" "" "FLG(NM_002016.2):c.3022C>A (p.(Pro1008Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973324" "0" "50" "1" "152284583" "152284583" "subst" "8.12156E-6" "01804" "FLG_000587" "g.152284583G>A" "" "" "" "FLG(NM_002016.2):c.2779C>T (p.(Gln927*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973325" "0" "50" "1" "152285513" "152285513" "subst" "4.06105E-6" "01804" "FLG_000588" "g.152285513G>A" "" "" "" "FLG(NM_002016.2):c.1849C>T (p.(Gln617Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973326" "0" "50" "1" "152285549" "152285549" "subst" "0" "01804" "FLG_000589" "g.152285549G>A" "" "" "" "FLG(NM_002016.2):c.1813C>T (p.(Gln605*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973327" "0" "10" "1" "152285679" "152285679" "subst" "0.00078776" "01804" "FLG_000590" "g.152285679C>G" "" "" "" "FLG(NM_002016.2):c.1683G>C (p.(Gln561His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973328" "0" "30" "1" "152286387" "152286387" "subst" "0.00170989" "01804" "FLG_000591" "g.152286387C>T" "" "" "" "FLG(NM_002016.2):c.975G>A (p.(Ala325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973329" "0" "50" "1" "152287232" "152287232" "subst" "1.22223E-5" "01804" "FLG_000592" "g.152287232A>C" "" "" "" "FLG(NM_002016.2):c.139-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973330" "0" "50" "1" "152287876" "152287876" "dup" "0" "01804" "FLG_000593" "g.152287876dup" "" "" "" "FLG(NM_002016.2):c.63dup (p.(Asp22ArgfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973331" "0" "50" "1" "152326322" "152326323" "dup" "0" "01804" "FLG_000326" "g.152326322_152326323dup" "" "" "" "FLG2(NM_001014342.3):c.3939_3940dup (p.(Thr1314IlefsTer223)), FLG2(NM_001014342.3):c.3939_3940dupTA (p.T1314Ifs*223)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973332" "0" "30" "1" "152326663" "152326663" "subst" "2.03616E-5" "01804" "FLG_000594" "g.152326663C>A" "" "" "" "FLG2(NM_001014342.3):c.3599G>T (p.(Gly1200Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985121" "0" "70" "1" "152285861" "152285861" "subst" "0.00936565" "00006" "FLG_000004" "g.152285861G>A" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "candidate variant in IEI panel" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000990284" "0" "30" "1" "152276273" "152276273" "subst" "4.06686E-5" "01804" "FLG_000595" "g.152276273G>A" "" "" "" "FLG(NM_002016.1):c.11089C>T (p.(Arg3697Cys)), FLG(NM_002016.2):c.11089C>T (p.R3697C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990285" "0" "50" "1" "152276305" "152276305" "subst" "0.000493829" "01804" "FLG_000596" "g.152276305C>G" "" "" "" "FLG(NM_002016.1):c.11057G>C (p.(Gly3686Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990286" "0" "30" "1" "152276803" "152276803" "subst" "0.00277516" "01804" "FLG_000597" "g.152276803T>G" "" "" "" "FLG(NM_002016.1):c.10559A>C (p.(Gln3520Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990287" "0" "50" "1" "152276824" "152276824" "subst" "7.31386E-5" "01804" "FLG_000108" "g.152276824G>A" "" "" "" "FLG(NM_002016.1):c.10538C>T (p.A3513V, p.(Ala3513Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990288" "0" "30" "1" "152277034" "152277034" "subst" "2.03166E-5" "01804" "FLG_000598" "g.152277034C>T" "" "" "" "FLG(NM_002016.1):c.10328G>A (p.(Arg3443Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990289" "0" "30" "1" "152277100" "152277100" "subst" "0.00587867" "01804" "FLG_000368" "g.152277100C>T" "" "" "" "FLG(NM_002016.1):c.10262G>A (p.S3421N, p.(Ser3421Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990290" "0" "30" "1" "152277550" "152277550" "subst" "0.000146185" "01804" "FLG_000599" "g.152277550G>T" "" "" "" "FLG(NM_002016.1):c.9812C>A (p.(Ser3271Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990291" "0" "30" "1" "152277575" "152277575" "subst" "0.00881233" "01804" "FLG_000373" "g.152277575C>T" "" "" "" "FLG(NM_002016.1):c.9787G>A (p.(Gly3263Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990292" "0" "30" "1" "152277619" "152277619" "subst" "0.00025585" "01804" "FLG_000600" "g.152277619C>G" "" "" "" "FLG(NM_002016.1):c.9743G>C (p.(Arg3248Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990293" "0" "30" "1" "152277725" "152277725" "subst" "0" "01804" "FLG_000601" "g.152277725A>G" "" "" "" "FLG(NM_002016.1):c.9637T>C (p.(Ser3213Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990294" "0" "30" "1" "152278148" "152278148" "subst" "4.64498E-6" "01804" "FLG_000602" "g.152278148A>T" "" "" "" "FLG(NM_002016.1):c.9214T>A (p.(Ser3072Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990295" "0" "50" "1" "152278559" "152278559" "subst" "0" "01804" "FLG_000603" "g.152278559C>T" "" "" "" "FLG(NM_002016.1):c.8803G>A (p.(Glu2935Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990296" "0" "30" "1" "152279051" "152279051" "subst" "0" "01804" "FLG_000604" "g.152279051G>C" "" "" "" "FLG(NM_002016.1):c.8311C>G (p.(Gln2771Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990297" "0" "50" "1" "152279192" "152279192" "subst" "0" "01804" "FLG_000605" "g.152279192C>T" "" "" "" "FLG(NM_002016.1):c.8170G>A (p.(Ala2724Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990298" "0" "30" "1" "152279716" "152279716" "subst" "0" "01804" "FLG_000606" "g.152279716A>T" "" "" "" "FLG(NM_002016.1):c.7646T>A (p.(Val2549Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990299" "0" "90" "1" "152279897" "152279897" "del" "0" "01804" "FLG_000607" "g.152279897del" "" "" "" "FLG(NM_002016.1):c.7467delG (p.(Ser2490fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990300" "0" "50" "1" "152280095" "152280096" "del" "0" "01804" "FLG_000561" "g.152280095_152280096del" "" "" "" "FLG(NM_002016.1):c.7267_7268delCA (p.(Gln2423fs)), FLG(NM_002016.2):c.7267_7268delCA (p.Q2423Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990301" "0" "50" "1" "152281144" "152281145" "del" "0" "01804" "FLG_000608" "g.152281144_152281145del" "" "" "" "FLG(NM_002016.1):c.6218_6219delAA (p.(Lys2073fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990302" "0" "90" "1" "152281253" "152281253" "subst" "0.000312683" "01804" "FLG_000464" "g.152281253G>A" "" "" "" "FLG(NM_002016.1):c.6109C>T (p.R2037*, p.(Arg2037*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990303" "0" "50" "1" "152281364" "152281364" "subst" "0" "01804" "FLG_000609" "g.152281364T>C" "" "" "" "FLG(NM_002016.1):c.5998A>G (p.(Ser2000Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990304" "0" "30" "1" "152281408" "152281408" "subst" "4.06065E-6" "01804" "FLG_000610" "g.152281408G>A" "" "" "" "FLG(NM_002016.1):c.5954C>T (p.(Ser1985Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990305" "0" "30" "1" "152281589" "152281589" "subst" "0.00122234" "01804" "FLG_000611" "g.152281589G>C" "" "" "" "FLG(NM_002016.1):c.5773C>G (p.(Gln1925Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990306" "0" "30" "1" "152281858" "152281858" "subst" "3.65456E-5" "01804" "FLG_000612" "g.152281858C>G" "" "" "" "FLG(NM_002016.1):c.5504G>C (p.(Ser1835Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990307" "0" "50" "1" "152281940" "152281940" "subst" "4.06184E-6" "01804" "FLG_000613" "g.152281940C>T" "" "" "" "FLG(NM_002016.1):c.5422G>A (p.(Glu1808Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990308" "0" "30" "1" "152281969" "152281969" "subst" "0.000231527" "01804" "FLG_000614" "g.152281969C>T" "" "" "" "FLG(NM_002016.1):c.5393G>A (p.(Arg1798Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990309" "0" "30" "1" "152282203" "152282203" "subst" "8.1217E-6" "01804" "FLG_000615" "g.152282203C>G" "" "" "" "FLG(NM_002016.1):c.5159G>C (p.(Ser1720Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990310" "0" "50" "1" "152282507" "152282507" "subst" "0" "01804" "FLG_000616" "g.152282507A>C" "" "" "" "FLG(NM_002016.1):c.4855T>G (p.(Tyr1619Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990311" "0" "90" "1" "152282818" "152282818" "subst" "0.000146188" "02327" "FLG_000617" "g.152282818G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990312" "0" "90" "1" "152283091" "152283092" "del" "0" "01804" "FLG_000618" "g.152283091_152283092del" "" "" "" "FLG(NM_002016.1):c.4271_4272delAA (p.(Lys1424fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990313" "0" "30" "1" "152283113" "152283113" "subst" "0.000194914" "01804" "FLG_000237" "g.152283113C>T" "" "" "" "FLG(NM_002016.1):c.4249G>A (p.G1417R, p.(Gly1417Arg)), FLG(NM_002016.2):c.4249G>A (p.G1417R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990314" "0" "30" "1" "152283295" "152283295" "subst" "8.1213E-6" "01804" "FLG_000619" "g.152283295C>G" "" "" "" "FLG(NM_002016.1):c.4067G>C (p.(Arg1356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990315" "0" "50" "1" "152283347" "152283347" "subst" "4.06088E-6" "01804" "FLG_000620" "g.152283347G>T" "" "" "" "FLG(NM_002016.1):c.4015C>A (p.(His1339Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990316" "0" "50" "1" "152283488" "152283488" "subst" "0" "01804" "FLG_000621" "g.152283488T>A" "" "" "" "FLG(NM_002016.1):c.3874A>T (p.(Arg1292*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990317" "0" "30" "1" "152283739" "152283739" "subst" "0.000284264" "01804" "FLG_000622" "g.152283739T>C" "" "" "" "FLG(NM_002016.1):c.3623A>G (p.(His1208Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990318" "0" "30" "1" "152283821" "152283821" "subst" "0.000251764" "01804" "FLG_000623" "g.152283821G>A" "" "" "" "FLG(NM_002016.1):c.3541C>T (p.(His1181Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990319" "0" "90" "1" "152284171" "152284171" "subst" "0.00015025" "02327" "FLG_000624" "g.152284171C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990320" "0" "30" "1" "152284256" "152284256" "subst" "4.06068E-6" "01804" "FLG_000625" "g.152284256G>C" "" "" "" "FLG(NM_002016.1):c.3106C>G (p.(Arg1036Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990321" "0" "90" "1" "152284303" "152284303" "subst" "0.000109642" "01804" "FLG_000626" "g.152284303G>C" "" "" "" "FLG(NM_002016.1):c.3059C>G (p.(Ser1020*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990322" "0" "50" "1" "152284319" "152284319" "subst" "0" "01804" "FLG_000627" "g.152284319C>T" "" "" "" "FLG(NM_002016.1):c.3043G>A (p.(Gly1015Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990323" "0" "90" "1" "152284433" "152284433" "subst" "0.000117764" "01804" "FLG_000471" "g.152284433G>A" "" "" "" "FLG(NM_002016.1):c.2929C>T (p.Q977*, p.(Gln977*)), FLG(NM_002016.2):c.2929C>T (p.Q977*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990324" "0" "50" "1" "152284562" "152284562" "subst" "8.12163E-6" "01804" "FLG_000628" "g.152284562C>G" "" "" "" "FLG(NM_002016.1):c.2800G>C (p.(Glu934Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990325" "0" "50" "1" "152284604" "152284604" "subst" "0" "01804" "FLG_000629" "g.152284604C>A" "" "" "" "FLG(NM_002016.1):c.2758G>T (p.(Ala920Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990326" "0" "30" "1" "152284735" "152284735" "subst" "0" "01804" "FLG_000630" "g.152284735G>A" "" "" "" "FLG(NM_002016.1):c.2627C>T (p.(Ser876Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990327" "0" "50" "1" "152284808" "152284808" "subst" "1.21842E-5" "01804" "FLG_000631" "g.152284808T>A" "" "" "" "FLG(NM_002016.1):c.2554A>T (p.(Arg852Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990328" "0" "90" "1" "152285000" "152285000" "subst" "0.000264007" "02327" "FLG_000300" "g.152285000G>A" "" "" "" "FLG(NM_002016.1):c.2362C>T (p.R788*), FLG(NM_002016.2):c.2362C>T (p.R788*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990329" "0" "30" "1" "152285138" "152285138" "subst" "1.21821E-5" "01804" "FLG_000632" "g.152285138A>G" "" "" "" "FLG(NM_002016.1):c.2224T>C (p.(Ser742Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990330" "0" "30" "1" "152285302" "152285302" "subst" "4.06081E-6" "01804" "FLG_000633" "g.152285302T>A" "" "" "" "FLG(NM_002016.1):c.2060A>T (p.(Asn687Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990331" "0" "30" "1" "152285310" "152285310" "subst" "2.03036E-5" "01804" "FLG_000634" "g.152285310G>T" "" "" "" "FLG(NM_002016.1):c.2052C>A (p.(His684Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990332" "0" "30" "1" "152285326" "152285326" "subst" "3.65456E-5" "01804" "FLG_000635" "g.152285326T>A" "" "" "" "FLG(NM_002016.1):c.2036A>T (p.(Lys679Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990333" "0" "30" "1" "152285344" "152285344" "subst" "7.7153E-5" "01804" "FLG_000636" "g.152285344G>C" "" "" "" "FLG(NM_002016.1):c.2018C>G (p.(Ser673Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990334" "0" "30" "1" "152285789" "152285789" "subst" "0.000373668" "01804" "FLG_000637" "g.152285789C>T" "" "" "" "FLG(NM_002016.1):c.1573G>A (p.(Gly525Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990335" "0" "50" "1" "152285975" "152285975" "subst" "3.6547E-5" "01804" "FLG_000638" "g.152285975C>T" "" "" "" "FLG(NM_002016.1):c.1387G>A (p.(Gly463Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990336" "0" "50" "1" "152286148" "152286148" "subst" "2.84264E-5" "01804" "FLG_000639" "g.152286148G>A" "" "" "" "FLG(NM_002016.1):c.1214C>T (p.(Ala405Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990337" "0" "50" "1" "152286205" "152286205" "subst" "4.06072E-5" "01804" "FLG_000640" "g.152286205G>C" "" "" "" "FLG(NM_002016.1):c.1157C>G (p.(Ser386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990338" "0" "50" "1" "152286342" "152286342" "subst" "0.000377665" "01804" "FLG_000641" "g.152286342A>T" "" "" "" "FLG(NM_002016.1):c.1020T>A (p.(Asp340Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990339" "0" "30" "1" "152286804" "152286804" "subst" "2.0389E-5" "01804" "FLG_000642" "g.152286804G>T" "" "" "" "FLG(NM_002016.1):c.558C>A (p.(Asn186Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990340" "0" "30" "1" "152286835" "152286835" "subst" "1.22334E-5" "01804" "FLG_000643" "g.152286835T>C" "" "" "" "FLG(NM_002016.1):c.527A>G (p.(Asn176Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990341" "0" "30" "1" "152287809" "152287809" "subst" "5.28627E-5" "01804" "FLG_000644" "g.152287809G>A" "" "" "" "FLG(NM_002016.1):c.124C>T (p.(Arg42Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990342" "0" "50" "1" "152328242" "152328242" "subst" "0" "01804" "FLG_000645" "g.152328242C>T" "" "" "" "FLG2(NM_001014342.2):c.2020G>A (p.(Gly674Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990343" "0" "50" "1" "152328835" "152328835" "subst" "0.000337407" "01804" "FLG_000646" "g.152328835G>A" "" "" "" "FLG2(NM_001014342.2):c.1427C>T (p.(Thr476Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013211" "0" "90" "1" "152277345" "152277345" "del" "0" "02327" "FLG_000647" "g.152277345del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013212" "0" "90" "1" "152279525" "152279525" "subst" "0.000183528" "02327" "FLG_000577" "g.152279525T>A" "" "" "" "FLG(NM_002016.2):c.7837A>T (p.(Arg2613Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013213" "0" "90" "1" "152279875" "152279875" "del" "2.84243E-5" "02327" "FLG_000579" "g.152279875del" "" "" "" "FLG(NM_002016.1):c.7487delC (p.(Thr2496AsnfsTer104))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001021174" "0" "30" "1" "152282099" "152282099" "subst" "0" "03779" "FLG_000648" "g.152282099A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs772370047" "0" "" "" "" "" "likely benign" "" "0001024028" "0" "50" "1" "152276273" "152276273" "subst" "4.06686E-5" "02325" "FLG_000595" "g.152276273G>A" "" "" "" "FLG(NM_002016.1):c.11089C>T (p.(Arg3697Cys)), FLG(NM_002016.2):c.11089C>T (p.R3697C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024029" "0" "50" "1" "152282635" "152282635" "subst" "0.000259913" "02325" "FLG_000230" "g.152282635A>T" "" "" "" "FLG(NM_002016.1):c.4727T>A (p.(Val1576Glu)), FLG(NM_002016.2):c.4727T>A (p.V1576E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024030" "0" "90" "1" "152283751" "152283751" "del" "0" "02325" "FLG_000649" "g.152283751del" "" "" "" "FLG(NM_002016.2):c.3611delC (p.S1204Lfs*242)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031268" "0" "90" "1" "152276135" "152276135" "subst" "6.0935E-5" "01804" "FLG_000650" "g.152276135G>A" "" "" "" "FLG(NM_002016.2):c.11227C>T (p.(Arg3743Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031269" "0" "50" "1" "152277278" "152277278" "del" "0" "01804" "FLG_000651" "g.152277278del" "" "" "" "FLG(NM_002016.2):c.10086del (p.(His3364Ilefs*27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031270" "0" "30" "1" "152277923" "152277923" "subst" "4.09682E-6" "01804" "FLG_000652" "g.152277923C>T" "" "" "" "FLG(NM_002016.2):c.9439G>A (p.(Gly3147Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031271" "0" "50" "1" "152278398" "152278398" "subst" "0.000850193" "01804" "FLG_000653" "g.152278398G>C" "" "" "" "FLG(NM_002016.2):c.8964C>G (p.(Ser2988Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031272" "0" "50" "1" "152279676" "152279676" "del" "8.12744E-6" "01804" "FLG_000086" "g.152279676del" "" "" "" "FLG(NM_002016.2):c.7686del (p.(Trp2563Glyfs*37))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031273" "0" "30" "1" "152279728" "152279728" "subst" "0.000239639" "02325" "FLG_000043" "g.152279728C>A" "" "" "" "FLG(NM_002016.1):c.7634G>T (p.G2545V), FLG(NM_002016.2):c.7634G>T (p.G2545V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031274" "0" "30" "1" "152280196" "152280196" "subst" "0" "01804" "FLG_000654" "g.152280196G>T" "" "" "" "FLG(NM_002016.2):c.7166C>A (p.(Ala2389Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031275" "0" "90" "1" "152280331" "152280331" "subst" "0.000473099" "01804" "FLG_000543" "g.152280331G>C" "" "" "" "FLG(NM_002016.2):c.7031C>G (p.(Ser2344Ter), p.S2344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031276" "0" "50" "1" "152281019" "152281019" "subst" "0" "01804" "FLG_000655" "g.152281019G>A" "" "" "" "FLG(NM_002016.2):c.6343C>T (p.(Gln2115*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031277" "0" "90" "1" "152282576" "152282579" "del" "0" "02327" "FLG_000656" "g.152282576_152282579del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031278" "0" "50" "1" "152282708" "152282708" "subst" "4.06141E-6" "02325" "FLG_000231" "g.152282708C>A" "" "" "" "FLG(NM_002016.1):c.4654G>T (p.D1552Y), FLG(NM_002016.2):c.4654G>T (p.D1552Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031279" "0" "50" "1" "152283390" "152283390" "subst" "0.000117766" "01804" "FLG_000657" "g.152283390G>T" "" "" "" "FLG(NM_002016.2):c.3972C>A (p.(Asp1324Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031280" "0" "70" "1" "152283938" "152283938" "del" "8.52972E-5" "01804" "FLG_000658" "g.152283938del" "" "" "" "FLG(NM_002016.2):c.3424del (p.(Gln1142Lysfs*44))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031281" "0" "90" "1" "152283944" "152283944" "subst" "0.000199082" "01804" "FLG_000447" "g.152283944G>A" "" "" "" "FLG(NM_002016.1):c.3418C>T (p.R1140*), FLG(NM_002016.2):c.3418C>T (p.(Arg1140*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031282" "0" "90" "1" "152284387" "152284388" "del" "0" "01804" "FLG_000525" "g.152284387_152284388del" "" "" "" "FLG(NM_002016.1):c.2976_2977delAG (p.R992Sfs*31), FLG(NM_002016.2):c.2976_2977del (p.(Arg992Serfs*31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031283" "0" "30" "1" "152287168" "152287168" "subst" "3.25055E-5" "01804" "FLG_000659" "g.152287168T>C" "" "" "" "FLG(NM_002016.2):c.194A>G (p.(His65Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031284" "0" "30" "1" "152325166" "152325166" "subst" "4.06243E-6" "01804" "FLG_000660" "g.152325166G>C" "" "" "" "FLG2(NM_001014342.3):c.5096C>G (p.(Thr1699Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031285" "0" "30" "1" "152325186" "152325186" "subst" "1.21937E-5" "01804" "FLG_000661" "g.152325186A>T" "" "" "" "FLG2(NM_001014342.3):c.5076T>A (p.(His1692Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045592" "0" "90" "1" "152287839" "152287839" "subst" "0.000138252" "02327" "FLG_000351" "g.152287839C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FLG ## Count = 743 "{{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}}" "0000079071" "00007995" "99" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501*)" "3" "0000079119" "00007995" "00" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501*)" "" "0000079239" "00007995" "00" "9740" "0" "9740" "0" "c.9740C>A" "r.(?)" "p.(Ser3247*)" "" "0000079253" "00007995" "00" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Gln1596*)" "" "0000079267" "00007995" "00" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501*)" "" "0000079281" "00007995" "00" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501*)" "" "0000079593" "00007995" "00" "9947" "0" "9947" "0" "c.9947C>G" "r.(?)" "p.(Ser3316*)" "" "0000079694" "00007995" "00" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Ser)" "" "0000248938" "00007995" "10" "9536" "0" "9536" "0" "c.9536T>G" "r.(?)" "p.(Val3179Gly)" "" "0000248962" "00007995" "10" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(Arg412=)" "" "0000253566" "00007995" "10" "10925" "0" "10925" "0" "c.10925T>C" "r.(?)" "p.(Ile3642Thr)" "" "0000253608" "00007995" "10" "5828" "0" "5828" "0" "c.5828T>A" "r.(?)" "p.(Leu1943His)" "" "0000253684" "00007995" "10" "3645" "0" "3645" "0" "c.3645T>C" "r.(?)" "p.(Ser1215=)" "" "0000253718" "00007995" "10" "5839" "0" "5839" "0" "c.5839T>G" "r.(?)" "p.(Trp1947Gly)" "" "0000253720" "00007995" "10" "2884" "0" "2884" "0" "c.2884T>C" "r.(?)" "p.(Trp962Arg)" "" "0000254393" "00007995" "30" "3932" "0" "3932" "0" "c.3932T>C" "r.(?)" "p.(Phe1311Ser)" "" "0000254458" "00007995" "30" "8700" "0" "8700" "0" "c.8700T>C" "r.(?)" "p.(His2900=)" "" "0000254855" "00007995" "30" "498" "0" "498" "0" "c.498T>G" "r.(?)" "p.(Pro166=)" "" "0000255035" "00007995" "30" "2806" "0" "2806" "0" "c.2806T>C" "r.(?)" "p.(Ser936Pro)" "" "0000256377" "00007995" "50" "8529" "0" "8529" "0" "c.8529T>G" "r.(?)" "p.(Asn2843Lys)" "" "0000256393" "00007995" "50" "12099" "0" "12099" "0" "c.12099T>A" "r.(?)" "p.(Asn4033Lys)" "" "0000256495" "00007995" "50" "9700" "0" "9700" "0" "c.9700T>A" "r.(?)" "p.(Ser3234Thr)" "" "0000280821" "00007995" "90" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761CysfsTer36)" "" "0000280822" "00007995" "10" "8928" "0" "8928" "0" "c.8928A>C" "r.(?)" "p.(Glu2976Asp)" "" "0000280823" "00007995" "10" "9540" "0" "9540" "0" "c.9540A>G" "r.(?)" "p.(Ser3180=)" "" "0000283242" "00007995" "90" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761CysfsTer36)" "" "0000287567" "00007995" "50" "10114" "0" "10114" "0" "c.10114G>A" "r.(?)" "p.(Ala3372Thr)" "" "0000287568" "00007995" "30" "10136" "0" "10136" "0" "c.10136G>C" "r.(?)" "p.(Arg3379Thr)" "" "0000287569" "00007995" "30" "10368" "0" "10368" "0" "c.10368G>A" "r.(?)" "p.(Arg3456=)" "" "0000287570" "00007995" "30" "10601" "0" "10601" "0" "c.10601A>G" "r.(?)" "p.(Asn3534Ser)" "" "0000287571" "00007995" "50" "10627" "0" "10627" "0" "c.10627A>G" "r.(?)" "p.(Ser3543Gly)" "" "0000287572" "00007995" "10" "10985" "0" "10985" "0" "c.10985G>C" "r.(?)" "p.(Ser3662Thr)" "" "0000287573" "00007995" "30" "11046" "0" "11046" "0" "c.11046C>T" "r.(?)" "p.(His3682=)" "" "0000287574" "00007995" "50" "11059" "0" "11059" "0" "c.11059C>T" "r.(?)" "p.(Pro3687Ser)" "" "0000287575" "00007995" "50" "11441" "0" "11441" "0" "c.11441G>A" "r.(?)" "p.(Arg3814His)" "" "0000287576" "00007995" "50" "11494" "0" "11494" "0" "c.11494G>A" "r.(?)" "p.(Glu3832Lys)" "" "0000287577" "00007995" "30" "11552" "0" "11552" "0" "c.11552C>T" "r.(?)" "p.(Ala3851Val)" "" "0000287578" "00007995" "30" "11674" "0" "11674" "0" "c.11674C>T" "r.(?)" "p.(Arg3892Trp)" "" "0000287579" "00007995" "50" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Glu426Lys)" "" "0000287580" "00007995" "30" "1741" "0" "1741" "0" "c.1741A>T" "r.(?)" "p.(Thr581Ser)" "" "0000287581" "00007995" "50" "1829" "0" "1829" "0" "c.1829G>T" "r.(?)" "p.(Gly610Val)" "" "0000287582" "00007995" "30" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Gln746=)" "" "0000287583" "00007995" "30" "2414" "0" "2414" "0" "c.2414C>T" "r.(?)" "p.(Ser805Phe)" "" "0000287584" "00007995" "30" "2589" "0" "2589" "0" "c.2589G>C" "r.(?)" "p.(Arg863Ser)" "" "0000287585" "00007995" "30" "2786" "0" "2786" "0" "c.2786G>T" "r.(?)" "p.(Gly929Val)" "" "0000287586" "00007995" "30" "2804" "0" "2804" "0" "c.2804G>C" "r.(?)" "p.(Gly935Ala)" "" "0000287587" "00007995" "30" "2936" "0" "2936" "0" "c.2936G>C" "r.(?)" "p.(Arg979Thr)" "" "0000287588" "00007995" "30" "2985" "0" "2985" "0" "c.2985C>T" "r.(?)" "p.(His995=)" "" "0000287589" "00007995" "30" "3150" "0" "3150" "0" "c.3150G>A" "r.(?)" "p.(Pro1050=)" "" "0000287590" "00007995" "30" "3436" "0" "3436" "0" "c.3436C>A" "r.(?)" "p.(His1146Asn)" "" "0000287591" "00007995" "30" "3440" "0" "3440" "0" "c.3440A>G" "r.(?)" "p.(Glu1147Gly)" "" "0000287592" "00007995" "30" "4406" "0" "4406" "0" "c.4406G>A" "r.(?)" "p.(Arg1469His)" "" "0000287593" "00007995" "50" "4924" "0" "4924" "0" "c.4924A>C" "r.(?)" "p.(Ser1642Arg)" "" "0000287594" "00007995" "50" "5386" "0" "5386" "0" "c.5386C>T" "r.(?)" "p.(Gln1796Ter)" "" "0000287595" "00007995" "50" "5690" "0" "5690" "0" "c.5690del" "r.(?)" "p.(His1897ProfsTer198)" "" "0000287596" "00007995" "50" "5756" "0" "5756" "0" "c.5756G>C" "r.(?)" "p.(Ser1919Thr)" "" "0000287597" "00007995" "50" "5842" "0" "5842" "0" "c.5842G>A" "r.(?)" "p.(Glu1948Lys)" "" "0000287598" "00007995" "30" "6220" "0" "6220" "0" "c.6220G>C" "r.(?)" "p.(Glu2074Gln)" "" "0000287599" "00007995" "30" "6225" "0" "6225" "0" "c.6225C>T" "r.(?)" "p.(Ser2075=)" "" "0000287600" "00007995" "30" "6309" "0" "6309" "0" "c.6309C>A" "r.(?)" "p.(Thr2103=)" "" "0000287601" "00007995" "30" "6583" "0" "6583" "0" "c.6583G>A" "r.(?)" "p.(Asp2195Asn)" "" "0000287602" "00007995" "10" "6803" "0" "6803" "0" "c.6803A>G" "r.(?)" "p.(His2268Arg)" "" "0000287603" "00007995" "30" "6853" "0" "6853" "0" "c.6853C>T" "r.(?)" "p.(His2285Tyr)" "" "0000287604" "00007995" "30" "6892" "0" "6892" "0" "c.6892A>G" "r.(?)" "p.(Ser2298Gly)" "" "0000287605" "00007995" "50" "7201" "0" "7201" "0" "c.7201C>T" "r.(?)" "p.(Arg2401Cys)" "" "0000287606" "00007995" "50" "7274" "0" "7274" "0" "c.7274A>C" "r.(?)" "p.(Glu2425Ala)" "" "0000287607" "00007995" "10" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Trp)" "" "0000287608" "00007995" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Glu252Lys)" "" "0000287609" "00007995" "30" "7634" "0" "7634" "0" "c.7634G>T" "r.(?)" "p.(Gly2545Val)" "" "0000287610" "00007995" "90" "7657" "0" "7657" "0" "c.7657C>T" "r.(?)" "p.(Gln2553Ter)" "" "0000287611" "00007995" "50" "7778" "0" "7778" "0" "c.7778G>C" "r.(?)" "p.(Gly2593Ala)" "" "0000287612" "00007995" "30" "8245" "0" "8245" "0" "c.8245G>C" "r.(?)" "p.(Glu2749Gln)" "" "0000287613" "00007995" "50" "8297" "0" "8297" "0" "c.8297G>A" "r.(?)" "p.(Arg2766His)" "" "0000287614" "00007995" "50" "8347" "0" "8347" "0" "c.8347C>G" "r.(?)" "p.(Gln2783Glu)" "" "0000287615" "00007995" "30" "8406" "0" "8406" "0" "c.8406C>T" "r.(?)" "p.(His2802=)" "" "0000287616" "00007995" "30" "8568" "0" "8568" "0" "c.8568G>A" "r.(?)" "p.(Ser2856=)" "" "0000287617" "00007995" "10" "8660" "0" "8660" "0" "c.8660A>C" "r.(?)" "p.(Gln2887Pro)" "" "0000287618" "00007995" "30" "8858" "0" "8858" "0" "c.8858G>A" "r.(?)" "p.(Arg2953His)" "" "0000287619" "00007995" "10" "9658" "0" "9658" "0" "c.9658G>C" "r.(?)" "p.(Asp3220His)" "" "0000287620" "00007995" "30" "9699" "0" "9699" "0" "c.9699G>A" "r.(?)" "p.(Gly3233=)" "" "0000287621" "00007995" "50" "9733" "0" "9733" "0" "c.9733G>T" "r.(?)" "p.(Glu3245Ter)" "" "0000287622" "00007995" "30" "9747" "0" "9747" "0" "c.9747C>T" "r.(?)" "p.(His3249=)" "" "0000287623" "00007995" "30" "9809" "0" "9809" "0" "c.9809G>A" "r.(?)" "p.(Arg3270His)" "" "0000287624" "00007995" "50" "9956" "0" "9956" "0" "c.9956C>T" "r.(?)" "p.(Pro3319Leu)" "" "0000287625" "00007995" "30" "9957" "0" "9957" "0" "c.9957G>A" "r.(?)" "p.(Pro3319=)" "" "0000320997" "00007995" "50" "5717" "0" "5717" "0" "c.5717C>A" "r.(?)" "p.(Ser1906Ter)" "" "0000339127" "00007995" "70" "12064" "0" "12064" "0" "c.12064A>T" "r.(?)" "p.(Lys4022Ter)" "" "0000343024" "00007995" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000344963" "00007995" "90" "2327" "0" "2328" "0" "c.2327_2328del" "r.(?)" "p.(Gln776ArgfsTer5)" "" "0000478798" "00007995" "99" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761Cysfs*36)" "3" "0000503184" "00007995" "30" "11839" "0" "11839" "0" "c.11839C>T" "r.(?)" "p.(Arg3947Cys)" "" "0000503187" "00007995" "30" "11722" "0" "11722" "0" "c.11722G>A" "r.(?)" "p.(Asp3908Asn)" "" "0000503188" "00007995" "30" "11674" "0" "11674" "0" "c.11674C>T" "r.(?)" "p.(Arg3892Trp)" "" "0000503189" "00007995" "30" "11573" "0" "11573" "0" "c.11573G>A" "r.(?)" "p.(Arg3858His)" "" "0000503190" "00007995" "30" "11486" "0" "11486" "0" "c.11486G>A" "r.(?)" "p.(Arg3829His)" "" "0000503191" "00007995" "30" "11486" "0" "11486" "0" "c.11486G>A" "r.(?)" "p.(Arg3829His)" "" "0000503192" "00007995" "30" "11479" "0" "11479" "0" "c.11479G>T" "r.(?)" "p.(Gly3827Trp)" "" "0000503194" "00007995" "30" "11198" "0" "11198" "0" "c.11198G>T" "r.(?)" "p.(Gly3733Val)" "" "0000503195" "00007995" "30" "11080" "0" "11080" "0" "c.11080G>C" "r.(?)" "p.(Glu3694Gln)" "" "0000503196" "00007995" "30" "10985" "0" "10985" "0" "c.10985G>C" "r.(?)" "p.(Ser3662Thr)" "" "0000503197" "00007995" "30" "10925" "0" "10925" "0" "c.10925T>C" "r.(?)" "p.(Ile3642Thr)" "" "0000503201" "00007995" "10" "10672" "0" "10672" "0" "c.10672T>C" "r.(?)" "p.(Ser3558Pro)" "" "0000503202" "00007995" "30" "10601" "0" "10601" "0" "c.10601A>G" "r.(?)" "p.(Asn3534Ser)" "" "0000503203" "00007995" "50" "10600" "0" "10600" "0" "c.10600A>T" "r.(?)" "p.(Asn3534Tyr)" "" "0000503204" "00007995" "30" "10600" "0" "10600" "0" "c.10600A>C" "r.(?)" "p.(Asn3534His)" "" "0000503205" "00007995" "30" "10585" "0" "10585" "0" "c.10585C>T" "r.(?)" "p.(Pro3529Ser)" "" "0000503206" "00007995" "30" "10580" "0" "10580" "0" "c.10580C>A" "r.(?)" "p.(Ala3527Glu)" "" "0000503207" "00007995" "30" "10564" "0" "10564" "0" "c.10564G>A" "r.(?)" "p.(Gly3522Ser)" "" "0000503208" "00007995" "50" "10538" "0" "10538" "0" "c.10538C>T" "r.(?)" "p.(Ala3513Val)" "" "0000503210" "00007995" "30" "10348" "0" "10348" "0" "c.10348T>C" "r.(?)" "p.(Tyr3450His)" "" "0000503211" "00007995" "30" "10343" "0" "10343" "0" "c.10343C>A" "r.(?)" "p.(Ser3448Tyr)" "" "0000503212" "00007995" "30" "10327" "0" "10327" "0" "c.10327A>G" "r.(?)" "p.(Arg3443Gly)" "" "0000503213" "00007995" "50" "10255" "0" "10255" "0" "c.10255C>T" "r.(?)" "p.(Arg3419Ter)" "" "0000503214" "00007995" "90" "10255" "0" "10255" "0" "c.10255C>T" "r.(?)" "p.(Arg3419Ter)" "" "0000503215" "00007995" "30" "10210" "0" "10210" "0" "c.10210A>G" "r.(?)" "p.(Arg3404Gly)" "" "0000503216" "00007995" "70" "10178" "0" "10179" "0" "c.10178_10179del" "r.(?)" "p.(His3393ArgfsTer4)" "" "0000503217" "00007995" "30" "10145" "0" "10145" "0" "c.10145G>A" "r.(?)" "p.(Arg3382His)" "" "0000503218" "00007995" "30" "10136" "0" "10136" "0" "c.10136G>C" "r.(?)" "p.(Arg3379Thr)" "" "0000503219" "00007995" "30" "10133" "0" "10133" "0" "c.10133G>A" "r.(?)" "p.(Gly3378Glu)" "" "0000503222" "00007995" "30" "9971" "0" "9971" "0" "c.9971C>T" "r.(?)" "p.(Ser3324Leu)" "" "0000503224" "00007995" "30" "9748" "0" "9748" "0" "c.9748G>A" "r.(?)" "p.(Gly3250Ser)" "" "0000503226" "00007995" "90" "9740" "0" "9740" "0" "c.9740C>A" "r.(?)" "p.(Ser3247Ter)" "" "0000503228" "00007995" "30" "9664" "0" "9664" "0" "c.9664G>C" "r.(?)" "p.(Glu3222Gln)" "" "0000503231" "00007995" "30" "9410" "0" "9410" "0" "c.9410G>C" "r.(?)" "p.(Gly3137Ala)" "" "0000503232" "00007995" "30" "9316" "0" "9316" "0" "c.9316G>A" "r.(?)" "p.(Gly3106Ser)" "" "0000503236" "00007995" "30" "8878" "0" "8878" "0" "c.8878G>A" "r.(?)" "p.(Gly2960Ser)" "" "0000503237" "00007995" "50" "8764" "0" "8764" "0" "c.8764C>T" "r.(?)" "p.(Gln2922Ter)" "" "0000503238" "00007995" "30" "8719" "0" "8719" "0" "c.8719T>C" "r.(?)" "p.(Trp2907Arg)" "" "0000503239" "00007995" "30" "8692" "0" "8692" "0" "c.8692G>C" "r.(?)" "p.(Glu2898Gln)" "" "0000503240" "00007995" "30" "8660" "0" "8660" "0" "c.8660A>C" "r.(?)" "p.(Gln2887Pro)" "" "0000503241" "00007995" "30" "8656" "0" "8656" "0" "c.8656C>T" "r.(?)" "p.(Arg2886Cys)" "" "0000503242" "00007995" "30" "8648" "0" "8648" "0" "c.8648G>C" "r.(?)" "p.(Arg2883Thr)" "" "0000503243" "00007995" "30" "8600" "0" "8600" "0" "c.8600T>G" "r.(?)" "p.(Ile2867Ser)" "" "0000503244" "00007995" "30" "8593" "0" "8594" "0" "c.8593_8594insGG" "r.(?)" "p.(Ala2865GlyfsTer28)" "" "0000503245" "00007995" "30" "8592" "0" "8592" "0" "c.8592T>G" "r.(?)" "p.(His2864Gln)" "" "0000503246" "00007995" "30" "8591" "0" "8591" "0" "c.8591A>G" "r.(?)" "p.(His2864Arg)" "" "0000503247" "00007995" "30" "8590" "0" "8591" "0" "c.8590_8591del" "r.(?)" "p.(His2864CysfsTer5)" "" "0000503248" "00007995" "30" "8590" "0" "8590" "0" "c.8590C>T" "r.(?)" "p.(His2864Tyr)" "" "0000503249" "00007995" "30" "8587" "0" "8587" "0" "c.8587A>T" "r.(?)" "p.(Thr2863Ser)" "" "0000503251" "00007995" "30" "8563" "0" "8563" "0" "c.8563G>C" "r.(?)" "p.(Gly2855Arg)" "" "0000503254" "00007995" "30" "8525" "0" "8527" "0" "c.8525_8527del" "r.(?)" "p.(Arg2842_Asn2843delinsHis)" "" "0000503255" "00007995" "30" "8519" "0" "8519" "0" "c.8519C>A" "r.(?)" "p.(Thr2840Lys)" "" "0000503256" "00007995" "30" "8518" "0" "8518" "0" "c.8518A>C" "r.(?)" "p.(Thr2840Pro)" "" "0000503257" "00007995" "30" "8510" "0" "8510" "0" "c.8510C>G" "r.(?)" "p.(Ala2837Gly)" "" "0000503260" "00007995" "30" "8424" "0" "8424" "0" "c.8424C>G" "r.(?)" "p.(Ser2808Arg)" "" "0000503261" "00007995" "30" "8412" "0" "8412" "0" "c.8412T>A" "r.(?)" "p.(His2804Gln)" "" "0000503262" "00007995" "30" "8297" "0" "8297" "0" "c.8297G>A" "r.(?)" "p.(Arg2766His)" "" "0000503264" "00007995" "30" "8254" "0" "8254" "0" "c.8254C>G" "r.(?)" "p.(His2752Asp)" "" "0000503265" "00007995" "30" "8187" "0" "8187" "0" "c.8187G>A" "r.(?)" "p.(Gly2729=)" "" "0000503266" "00007995" "10" "8166" "0" "8166" "0" "c.8166G>A" "r.(?)" "p.(Glu2722=)" "" "0000503269" "00007995" "30" "8135" "0" "8135" "0" "c.8135A>G" "r.(?)" "p.(Gln2712Arg)" "" "0000503270" "00007995" "30" "8032" "0" "8032" "0" "c.8032G>T" "r.(?)" "p.(Ala2678Ser)" "" "0000503272" "00007995" "30" "7942" "0" "7942" "0" "c.7942T>C" "r.(?)" "p.(Ser2648Pro)" "" "0000503273" "00007995" "30" "7830" "0" "7830" "0" "c.7830A>C" "r.(?)" "p.(Gln2610His)" "" "0000503274" "00007995" "30" "7655" "0" "7655" "0" "c.7655G>A" "r.(?)" "p.(Gly2552Glu)" "" "0000503275" "00007995" "30" "7618" "0" "7618" "0" "c.7618C>T" "r.(?)" "p.(Arg2540Trp)" "" "0000503277" "00007995" "30" "7546" "0" "7546" "0" "c.7546C>A" "r.(?)" "p.(Gln2516Lys)" "" "0000503278" "00007995" "30" "7514" "0" "7514" "0" "c.7514A>G" "r.(?)" "p.(His2505Arg)" "" "0000503279" "00007995" "50" "7427" "0" "7427" "0" "c.7427C>A" "r.(?)" "p.(Ser2476Tyr)" "" "0000503280" "00007995" "30" "7387" "0" "7387" "0" "c.7387C>G" "r.(?)" "p.(His2463Asp)" "" "0000503281" "00007995" "90" "7339" "0" "7339" "0" "c.7339C>T" "r.(?)" "p.(Arg2447Ter)" "" "0000503282" "00007995" "90" "7339" "0" "7339" "0" "c.7339C>T" "r.(?)" "p.(Arg2447Ter)" "" "0000503285" "00007995" "30" "7168" "0" "7168" "0" "c.7168G>T" "r.(?)" "p.(Gly2390Trp)" "" "0000503286" "00007995" "30" "7088" "0" "7088" "0" "c.7088C>A" "r.(?)" "p.(Ser2363Tyr)" "" "0000503287" "00007995" "30" "7037" "0" "7037" "0" "c.7037T>C" "r.(?)" "p.(Ile2346Thr)" "" "0000503289" "00007995" "30" "6871" "0" "6871" "0" "c.6871G>A" "r.(?)" "p.(Gly2291Ser)" "" "0000503290" "00007995" "50" "6817" "0" "6817" "0" "c.6817G>A" "r.(?)" "p.(Glu2273Lys)" "" "0000503291" "00007995" "30" "6803" "0" "6803" "0" "c.6803A>G" "r.(?)" "p.(His2268Arg)" "" "0000503292" "00007995" "30" "6712" "0" "6712" "0" "c.6712C>T" "r.(?)" "p.(Pro2238Ser)" "" "0000503293" "00007995" "30" "6692" "0" "6692" "0" "c.6692C>A" "r.(?)" "p.(Ser2231Ter)" "" "0000503294" "00007995" "30" "6691" "0" "6691" "0" "c.6691T>G" "r.(?)" "p.(Ser2231Ala)" "" "0000503295" "00007995" "30" "6652" "0" "6652" "0" "c.6652G>A" "r.(?)" "p.(Asp2218Asn)" "" "0000503297" "00007995" "30" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Gly2202Ser)" "" "0000503298" "00007995" "30" "6505" "0" "6505" "0" "c.6505A>G" "r.(?)" "p.(Ser2169Gly)" "" "0000503300" "00007995" "30" "6430" "0" "6430" "0" "c.6430C>T" "r.(?)" "p.(Pro2144Ser)" "" "0000503301" "00007995" "30" "6360" "0" "6360" "0" "c.6360T>G" "r.(?)" "p.(Asp2120Glu)" "" "0000503302" "00007995" "30" "6353" "0" "6353" "0" "c.6353A>G" "r.(?)" "p.(His2118Arg)" "" "0000503303" "00007995" "30" "6226" "0" "6226" "0" "c.6226G>T" "r.(?)" "p.(Ala2076Ser)" "" "0000503305" "00007995" "30" "6220" "0" "6220" "0" "c.6220G>C" "r.(?)" "p.(Glu2074Gln)" "" "0000503306" "00007995" "30" "6205" "0" "6205" "0" "c.6205C>A" "r.(?)" "p.(Gln2069Lys)" "" "0000503307" "00007995" "30" "6204" "0" "6204" "0" "c.6204T>A" "r.(?)" "p.(His2068Gln)" "" "0000503308" "00007995" "30" "6190" "0" "6190" "0" "c.6190A>C" "r.(?)" "p.(Lys2064Gln)" "" "0000503309" "00007995" "10" "6073" "0" "6073" "0" "c.6073G>A" "r.(?)" "p.(Gly2025Arg)" "" "0000503310" "00007995" "50" "6073" "0" "6073" "0" "c.6073G>A" "r.(?)" "p.(Gly2025Arg)" "" "0000503312" "00007995" "30" "5939" "0" "5939" "0" "c.5939G>A" "r.(?)" "p.(Arg1980His)" "" "0000503313" "00007995" "30" "5939" "0" "5939" "0" "c.5939G>A" "r.(?)" "p.(Arg1980His)" "" "0000503315" "00007995" "30" "5845" "0" "5845" "0" "c.5845C>G" "r.(?)" "p.(Gln1949Glu)" "" "0000503316" "00007995" "50" "5840" "0" "5840" "0" "c.5840G>A" "r.(?)" "p.(Trp1947Ter)" "" "0000503317" "00007995" "30" "5839" "0" "5839" "0" "c.5839T>C" "r.(?)" "p.(Trp1947Arg)" "" "0000503318" "00007995" "30" "5828" "0" "5828" "0" "c.5828T>A" "r.(?)" "p.(Leu1943His)" "" "0000503319" "00007995" "30" "5802" "0" "5802" "0" "c.5802G>C" "r.(?)" "p.(Trp1934Cys)" "" "0000503322" "00007995" "30" "5737" "0" "5737" "0" "c.5737A>C" "r.(?)" "p.(Asn1913His)" "" "0000503327" "00007995" "30" "5630" "0" "5630" "0" "c.5630G>A" "r.(?)" "p.(Gly1877Asp)" "" "0000503329" "00007995" "30" "5584" "0" "5584" "0" "c.5584A>C" "r.(?)" "p.(Arg1862=)" "" "0000503331" "00007995" "30" "5532" "0" "5532" "0" "c.5532C>A" "r.(?)" "p.(Ser1844Arg)" "" "0000503332" "00007995" "30" "5497" "0" "5497" "0" "c.5497G>A" "r.(?)" "p.(Val1833Ile)" "" "0000503333" "00007995" "30" "5486" "0" "5486" "0" "c.5486A>G" "r.(?)" "p.(Tyr1829Cys)" "" "0000503334" "00007995" "30" "5455" "0" "5455" "0" "c.5455T>C" "r.(?)" "p.(Ser1819Pro)" "" "0000503336" "00007995" "30" "5355" "0" "5355" "0" "c.5355C>G" "r.(?)" "p.(Ser1785Arg)" "" "0000503337" "00007995" "30" "5270" "0" "5270" "0" "c.5270A>G" "r.(?)" "p.(Glu1757Gly)" "" "0000503338" "00007995" "30" "5261" "0" "5261" "0" "c.5261A>G" "r.(?)" "p.(Gln1754Arg)" "" "0000503339" "00007995" "30" "5258" "0" "5258" "0" "c.5258G>A" "r.(?)" "p.(Gly1753Asp)" "" "0000503340" "00007995" "30" "5251" "0" "5251" "0" "c.5251A>G" "r.(?)" "p.(Thr1751Ala)" "" "0000503343" "00007995" "30" "4901" "0" "4901" "0" "c.4901G>C" "r.(?)" "p.(Arg1634Thr)" "" "0000503344" "00007995" "30" "4727" "0" "4727" "0" "c.4727T>A" "r.(?)" "p.(Val1576Glu)" "" "0000503345" "00007995" "50" "4654" "0" "4654" "0" "c.4654G>T" "r.(?)" "p.(Asp1552Tyr)" "" "0000503347" "00007995" "50" "4478" "0" "4478" "0" "c.4478C>G" "r.(?)" "p.(Pro1493Arg)" "" "0000503350" "00007995" "30" "4421" "0" "4421" "0" "c.4421G>A" "r.(?)" "p.(Arg1474Gln)" "" "0000503351" "00007995" "30" "4421" "0" "4421" "0" "c.4421G>A" "r.(?)" "p.(Arg1474Gln)" "" "0000503353" "00007995" "30" "4249" "0" "4249" "0" "c.4249G>A" "r.(?)" "p.(Gly1417Arg)" "" "0000503354" "00007995" "30" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Gly1414Arg)" "" "0000503356" "00007995" "30" "3956" "0" "3956" "0" "c.3956A>C" "r.(?)" "p.(His1319Pro)" "" "0000503359" "00007995" "30" "3896" "0" "3896" "0" "c.3896G>A" "r.(?)" "p.(Arg1299Gln)" "" "0000503360" "00007995" "30" "3892" "0" "3892" "0" "c.3892T>G" "r.(?)" "p.(Ser1298Ala)" "" "0000503362" "00007995" "30" "3785" "0" "3785" "0" "c.3785C>A" "r.(?)" "p.(Thr1262Lys)" "" "0000503363" "00007995" "30" "3716" "0" "3716" "0" "c.3716A>C" "r.(?)" "p.(Glu1239Ala)" "" "0000503365" "00007995" "30" "3620" "0" "3620" "0" "c.3620C>A" "r.(?)" "p.(Ser1207Tyr)" "" "0000503366" "00007995" "30" "3609" "0" "3609" "0" "c.3609G>T" "r.(?)" "p.(Arg1203Ser)" "" "0000503367" "00007995" "30" "3609" "0" "3609" "0" "c.3609G>T" "r.(?)" "p.(Arg1203Ser)" "" "0000503369" "00007995" "30" "3543" "0" "3543" "0" "c.3543T>A" "r.(?)" "p.(His1181Gln)" "" "0000503372" "00007995" "30" "3440" "0" "3440" "0" "c.3440A>G" "r.(?)" "p.(Glu1147Gly)" "" "0000503374" "00007995" "30" "3397" "0" "3397" "0" "c.3397C>T" "r.(?)" "p.(Arg1133Trp)" "" "0000503375" "00007995" "30" "3352" "0" "3352" "0" "c.3352A>C" "r.(?)" "p.(Ile1118Leu)" "" "0000503376" "00007995" "30" "3338" "0" "3338" "0" "c.3338G>A" "r.(?)" "p.(Arg1113His)" "" "0000503377" "00007995" "30" "3316" "0" "3316" "0" "c.3316T>C" "r.(?)" "p.(Trp1106Arg)" "" "0000503378" "00007995" "30" "3275" "0" "3275" "0" "c.3275A>C" "r.(?)" "p.(Asp1092Ala)" "" "0000503379" "00007995" "30" "3237" "0" "3237" "0" "c.3237G>A" "r.(?)" "p.(Glu1079=)" "" "0000503380" "00007995" "30" "3197" "0" "3197" "0" "c.3197C>A" "r.(?)" "p.(Ser1066Tyr)" "" "0000503381" "00007995" "30" "3154" "0" "3154" "0" "c.3154A>G" "r.(?)" "p.(Arg1052Gly)" "" "0000503382" "00007995" "30" "3097" "0" "3097" "0" "c.3097C>T" "r.(?)" "p.(His1033Tyr)" "" "0000503383" "00007995" "30" "3093" "0" "3093" "0" "c.3093A>G" "r.(?)" "p.(Glu1031=)" "" "0000503384" "00007995" "30" "3034" "0" "3034" "0" "c.3034A>T" "r.(?)" "p.(Thr1012Ser)" "" "0000503385" "00007995" "30" "2938" "0" "2938" "0" "c.2938C>G" "r.(?)" "p.(His980Asp)" "" "0000503389" "00007995" "10" "2912" "0" "2912" "0" "c.2912G>A" "r.(?)" "p.(Arg971His)" "" "0000503391" "00007995" "30" "2891" "0" "2891" "0" "c.2891G>C" "r.(?)" "p.(Gly964Ala)" "" "0000503392" "00007995" "30" "2884" "0" "2884" "0" "c.2884T>C" "r.(?)" "p.(Trp962Arg)" "" "0000503393" "00007995" "30" "2857" "0" "2857" "0" "c.2857G>C" "r.(?)" "p.(Glu953Gln)" "" "0000503394" "00007995" "30" "2822" "0" "2822" "0" "c.2822G>A" "r.(?)" "p.(Arg941His)" "" "0000503397" "00007995" "30" "2813" "0" "2813" "0" "c.2813C>G" "r.(?)" "p.(Thr938Arg)" "" "0000503398" "00007995" "30" "2811" "0" "2811" "0" "c.2811G>A" "r.(?)" "p.(Arg937=)" "" "0000503399" "00007995" "30" "2804" "0" "2804" "0" "c.2804G>C" "r.(?)" "p.(Gly935Ala)" "" "0000503400" "00007995" "30" "2794" "0" "2794" "0" "c.2794C>A" "r.(?)" "p.(Gln932Lys)" "" "0000503401" "00007995" "30" "2786" "0" "2786" "0" "c.2786G>T" "r.(?)" "p.(Gly929Val)" "" "0000503402" "00007995" "30" "2765" "0" "2765" "0" "c.2765T>G" "r.(?)" "p.(Ile922Ser)" "" "0000503404" "00007995" "30" "2758" "0" "2759" "0" "c.2758_2759insGG" "r.(?)" "p.(Ala920GlyfsTer203)" "" "0000503405" "00007995" "30" "2755" "0" "2756" "0" "c.2755_2756del" "r.(?)" "p.(His919CysfsTer5)" "" "0000503407" "00007995" "30" "2718" "0" "2718" "0" "c.2718C>T" "r.(?)" "p.(Ser906=)" "" "0000503408" "00007995" "30" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Gly905Ser)" "" "0000503409" "00007995" "30" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Gly905Ser)" "" "0000503412" "00007995" "30" "2690" "0" "2692" "0" "c.2690_2692del" "r.(?)" "p.(Arg897_Asn898delinsHis)" "" "0000503413" "00007995" "30" "2689" "0" "2689" "0" "c.2689C>T" "r.(?)" "p.(Arg897Cys)" "" "0000503414" "00007995" "30" "2684" "0" "2684" "0" "c.2684C>A" "r.(?)" "p.(Thr895Lys)" "" "0000503415" "00007995" "30" "2683" "0" "2683" "0" "c.2683A>C" "r.(?)" "p.(Thr895Pro)" "" "0000503417" "00007995" "30" "2589" "0" "2589" "0" "c.2589G>C" "r.(?)" "p.(Arg863Ser)" "" "0000503418" "00007995" "30" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(Ser860=)" "" "0000503419" "00007995" "30" "2539" "0" "2539" "0" "c.2539T>A" "r.(?)" "p.(Ser847Thr)" "" "0000503420" "00007995" "50" "2476" "0" "2476" "0" "c.2476C>T" "r.(?)" "p.(Arg826Ter)" "" "0000503422" "00007995" "30" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Lys801Glu)" "" "0000503423" "00007995" "30" "2399" "0" "2399" "0" "c.2399A>T" "r.(?)" "p.(His800Leu)" "" "0000503425" "00007995" "50" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000503427" "00007995" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000503428" "00007995" "30" "2342" "0" "2342" "0" "c.2342A>G" "r.(?)" "p.(Asp781Gly)" "" "0000503429" "00007995" "90" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761CysfsTer36)" "" "0000503435" "00007995" "30" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Gly691Glu)" "" "0000503436" "00007995" "30" "2067" "0" "2067" "0" "c.2067T>C" "r.(?)" "p.(Ser689=)" "" "0000503438" "00007995" "50" "2023" "0" "2023" "0" "c.2023G>C" "r.(?)" "p.(Asp675His)" "" "0000503439" "00007995" "30" "2023" "0" "2023" "0" "c.2023G>C" "r.(?)" "p.(Asp675His)" "" "0000503440" "00007995" "30" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Glu665Lys)" "" "0000503442" "00007995" "30" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Arg)" "" "0000503444" "00007995" "30" "1741" "0" "1741" "0" "c.1741A>T" "r.(?)" "p.(Thr581Ser)" "" "0000503445" "00007995" "30" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Ser535Pro)" "" "0000503446" "00007995" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000503447" "00007995" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000503448" "00007995" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000503449" "00007995" "10" "1494" "0" "1494" "0" "c.1494G>C" "r.(?)" "p.(Glu498Asp)" "" "0000503450" "00007995" "30" "1494" "0" "1494" "0" "c.1494G>C" "r.(?)" "p.(Glu498Asp)" "" "0000503452" "00007995" "30" "1342" "0" "1342" "0" "c.1342C>A" "r.(?)" "p.(Gln448Lys)" "" "0000503454" "00007995" "50" "1111" "0" "1111" "0" "c.1111T>A" "r.(?)" "p.(Ser371Thr)" "" "0000503458" "00007995" "30" "336" "0" "336" "0" "c.336T>C" "r.(?)" "p.(Asp112=)" "" "0000503459" "00007995" "50" "-27223" "0" "-27223" "0" "c.-27223G>A" "r.(?)" "p.(=)" "" "0000503460" "00007995" "50" "-28680" "0" "-28679" "0" "c.-28680_-28679dup" "r.(?)" "p.(=)" "" "0000503461" "00007995" "30" "-29364" "0" "-29364" "0" "c.-29364A>G" "r.(?)" "p.(=)" "" "0000503462" "00007995" "30" "-30024" "0" "-29794" "0" "c.-30024_-29794del" "r.(?)" "p.(=)" "" "0000604804" "00007995" "30" "11484" "0" "11484" "0" "c.11484G>A" "r.(?)" "p.(Ser3828=)" "" "0000604805" "00007995" "30" "10626" "0" "10626" "0" "c.10626C>T" "r.(?)" "p.(Asp3542=)" "" "0000604806" "00007995" "30" "9568" "0" "9568" "0" "c.9568G>A" "r.(?)" "p.(Asp3190Asn)" "" "0000604809" "00007995" "30" "8531" "0" "8532" "0" "c.8531_8532insCAA" "r.(?)" "p.(Glu2844delinsAspLys)" "" "0000604810" "00007995" "30" "8341" "0" "8341" "0" "c.8341G>T" "r.(?)" "p.(Asp2781Tyr)" "" "0000604811" "00007995" "50" "7910" "0" "7910" "0" "c.7910G>T" "r.(?)" "p.(Gly2637Val)" "" "0000604812" "00007995" "30" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410Cys)" "" "0000604813" "00007995" "90" "7031" "0" "7031" "0" "c.7031C>A" "r.(?)" "p.(Ser2344Ter)" "" "0000604814" "00007995" "30" "6556" "0" "6556" "0" "c.6556T>C" "r.(?)" "p.(Ser2186Pro)" "" "0000604815" "00007995" "30" "6515" "0" "6515" "0" "c.6515C>T" "r.(?)" "p.(Thr2172Ile)" "" "0000604816" "00007995" "30" "5506" "0" "5506" "0" "c.5506T>G" "r.(?)" "p.(Ser1836Ala)" "" "0000604817" "00007995" "30" "4867" "0" "4867" "0" "c.4867C>A" "r.(?)" "p.(Arg1623=)" "" "0000604818" "00007995" "50" "4700" "0" "4700" "0" "c.4700G>A" "r.(?)" "p.(Arg1567Gln)" "" "0000604819" "00007995" "90" "3321" "0" "3321" "0" "c.3321del" "r.(?)" "p.(Gly1109GlufsTer13)" "" "0000604820" "00007995" "30" "2794" "0" "2794" "0" "c.2794C>A" "r.(?)" "p.(Gln932Lys)" "" "0000604821" "00007995" "30" "2696" "0" "2697" "0" "c.2696_2697insCAA" "r.(?)" "p.(Glu899delinsAspLys)" "" "0000604822" "00007995" "30" "2341" "0" "2341" "0" "c.2341G>C" "r.(?)" "p.(Asp781His)" "" "0000604823" "00007995" "90" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761CysfsTer36)" "" "0000604824" "00007995" "50" "-29518" "0" "-29515" "0" "c.-29518_-29515del" "r.(?)" "p.(=)" "" "0000604825" "00007995" "30" "-30354" "0" "-30354" "0" "c.-30354C>A" "r.(?)" "p.(=)" "" "0000604826" "00007995" "90" "-30512" "0" "-30512" "0" "c.-30512del" "r.(?)" "p.(=)" "" "0000620398" "00007995" "70" "-29898" "0" "-29898" "0" "c.-29898C>A" "r.(?)" "p.(=)" "" "0000647381" "00007995" "30" "11573" "0" "11573" "0" "c.11573G>A" "r.(?)" "p.(Arg3858His)" "" "0000647382" "00007995" "90" "94" "0" "94" "0" "c.94G>T" "r.(?)" "p.(Glu32*)" "" "0000653664" "00007995" "10" "12677" "0" "12677" "0" "c.*491A>T" "r.(=)" "p.(=)" "" "0000653665" "00007995" "10" "11909" "0" "11909" "0" "c.11909C>T" "r.(?)" "p.(Ser3970Leu)" "" "0000653666" "00007995" "30" "11434" "0" "11434" "0" "c.11434G>A" "r.(?)" "p.(Glu3812Lys)" "" "0000653667" "00007995" "10" "11213" "0" "11213" "0" "c.11213G>A" "r.(?)" "p.(Arg3738His)" "" "0000653668" "00007995" "30" "11073" "0" "11073" "0" "c.11073C>T" "r.(?)" "p.(Ser3691=)" "" "0000653669" "00007995" "10" "10903" "0" "10903" "0" "c.10903G>A" "r.(?)" "p.(Asp3635Asn)" "" "0000653670" "00007995" "10" "10779" "0" "10779" "0" "c.10779G>C" "r.(?)" "p.(Glu3593Asp)" "" "0000653671" "00007995" "10" "10764" "0" "10764" "0" "c.10764C>T" "r.(?)" "p.(His3588=)" "" "0000653672" "00007995" "10" "10736" "0" "10736" "0" "c.10736C>G" "r.(?)" "p.(Thr3579Arg)" "" "0000653673" "00007995" "10" "10691" "0" "10691" "0" "c.10691G>T" "r.(?)" "p.(Arg3564Leu)" "" "0000653674" "00007995" "10" "10691" "0" "10691" "0" "c.10691G>A" "r.(?)" "p.(Arg3564His)" "" "0000653675" "00007995" "10" "10663" "0" "10663" "0" "c.10663T>C" "r.(?)" "p.(Trp3555Arg)" "" "0000653676" "00007995" "10" "10590" "0" "10590" "0" "c.10590G>T" "r.(?)" "p.(Arg3530Ser)" "" "0000653677" "00007995" "10" "10491" "0" "10491" "0" "c.10491T>C" "r.(?)" "p.(Asp3497=)" "" "0000653678" "00007995" "10" "10473" "0" "10473" "0" "c.10473T>C" "r.(?)" "p.(Asn3491=)" "" "0000653679" "00007995" "10" "10307" "0" "10307" "0" "c.10307G>C" "r.(?)" "p.(Gly3436Ala)" "" "0000653680" "00007995" "10" "10278" "0" "10278" "0" "c.10278G>A" "r.(?)" "p.(Ala3426=)" "" "0000653682" "00007995" "10" "10262" "0" "10262" "0" "c.10262G>A" "r.(?)" "p.(Ser3421Asn)" "" "0000653683" "00007995" "10" "10194" "0" "10194" "0" "c.10194T>C" "r.(?)" "p.(Ser3398=)" "" "0000653684" "00007995" "10" "10055" "0" "10055" "0" "c.10055C>G" "r.(?)" "p.(Thr3352Arg)" "" "0000653685" "00007995" "10" "10017" "0" "10017" "0" "c.10017G>A" "r.(?)" "p.(Gln3339=)" "" "0000653686" "00007995" "10" "9966" "0" "9966" "0" "c.9966A>G" "r.(?)" "p.(Gln3322=)" "" "0000653687" "00007995" "10" "9808" "0" "9808" "0" "c.9808C>T" "r.(?)" "p.(Arg3270Cys)" "" "0000653688" "00007995" "10" "9787" "0" "9787" "0" "c.9787G>A" "r.(?)" "p.(Gly3263Ser)" "" "0000653689" "00007995" "10" "9645" "0" "9645" "0" "c.9645G>T" "r.(?)" "p.(Val3215=)" "" "0000653690" "00007995" "50" "9642" "0" "9642" "0" "c.9642T>C" "r.(?)" "p.(Ser3214=)" "" "0000653691" "00007995" "10" "9540" "0" "9540" "0" "c.9540A>G" "r.(?)" "p.(Ser3180=)" "" "0000653692" "00007995" "10" "9536" "0" "9536" "0" "c.9536T>G" "r.(?)" "p.(Val3179Gly)" "" "0000653693" "00007995" "10" "9159" "0" "9159" "0" "c.9159G>A" "r.(?)" "p.(Gly3053=)" "" "0000653694" "00007995" "10" "8928" "0" "8928" "0" "c.8928A>C" "r.(?)" "p.(Glu2976Asp)" "" "0000653695" "00007995" "10" "8878" "0" "8878" "0" "c.8878G>A" "r.(?)" "p.(Gly2960Ser)" "" "0000653696" "00007995" "10" "8750" "0" "8750" "0" "c.8750G>T" "r.(?)" "p.(Gly2917Val)" "" "0000653697" "00007995" "10" "8673" "0" "8673" "0" "c.8673G>T" "r.(?)" "p.(Val2891=)" "" "0000653698" "00007995" "10" "8548" "0" "8548" "0" "c.8548G>A" "r.(?)" "p.(Gly2850Ser)" "" "0000653699" "00007995" "10" "8506" "0" "8506" "0" "c.8506A>C" "r.(?)" "p.(Ser2836Arg)" "" "0000653700" "00007995" "30" "8211" "0" "8211" "0" "c.8211T>G" "r.(?)" "p.(Ser2737=)" "" "0000653701" "00007995" "10" "8187" "0" "8187" "0" "c.8187G>A" "r.(?)" "p.(Gly2729=)" "" "0000653702" "00007995" "10" "7956" "0" "7956" "0" "c.7956A>C" "r.(?)" "p.(Glu2652Asp)" "" "0000653703" "00007995" "10" "7633" "0" "7633" "0" "c.7633G>A" "r.(?)" "p.(Gly2545Arg)" "" "0000653704" "00007995" "10" "7521" "0" "7521" "0" "c.7521C>G" "r.(?)" "p.(His2507Gln)" "" "0000653705" "00007995" "10" "7442" "0" "7442" "0" "c.7442T>C" "r.(?)" "p.(Leu2481Ser)" "" "0000653706" "00007995" "10" "7330" "0" "7330" "0" "c.7330A>G" "r.(?)" "p.(Lys2444Glu)" "" "0000653707" "00007995" "10" "7252" "0" "7252" "0" "c.7252G>A" "r.(?)" "p.(Val2418Met)" "" "0000653708" "00007995" "10" "7192" "0" "7192" "0" "c.7192G>C" "r.(?)" "p.(Glu2398Gln)" "" "0000653709" "00007995" "10" "7097" "0" "7097" "0" "c.7097G>C" "r.(?)" "p.(Ser2366Thr)" "" "0000653710" "00007995" "10" "7015" "0" "7015" "0" "c.7015G>A" "r.(?)" "p.(Asp2339Asn)" "" "0000653711" "00007995" "10" "6891" "0" "6891" "0" "c.6891G>C" "r.(?)" "p.(Glu2297Asp)" "" "0000653712" "00007995" "10" "6789" "0" "6789" "0" "c.6789G>T" "r.(?)" "p.(Ala2263=)" "" "0000653713" "00007995" "10" "6789" "0" "6789" "0" "c.6789G>A" "r.(?)" "p.(Ala2263=)" "" "0000653714" "00007995" "10" "6787" "0" "6787" "0" "c.6787G>A" "r.(?)" "p.(Ala2263Thr)" "" "0000653715" "00007995" "10" "6765" "0" "6765" "0" "c.6765T>C" "r.(?)" "p.(Asp2255=)" "" "0000653716" "00007995" "10" "6704" "0" "6704" "0" "c.6704C>G" "r.(?)" "p.(Thr2235Arg)" "" "0000653717" "00007995" "10" "6580" "0" "6580" "0" "c.6580T>C" "r.(?)" "p.(Tyr2194His)" "" "0000653718" "00007995" "10" "6574" "0" "6574" "0" "c.6574A>C" "r.(?)" "p.(Lys2192Gln)" "" "0000653719" "00007995" "10" "6498" "0" "6498" "0" "c.6498T>C" "r.(?)" "p.(Ser2166=)" "" "0000653720" "00007995" "10" "6462" "0" "6462" "0" "c.6462A>C" "r.(?)" "p.(Gln2154His)" "" "0000653721" "00007995" "10" "6323" "0" "6323" "0" "c.6323C>T" "r.(?)" "p.(Ala2108Val)" "" "0000653722" "00007995" "10" "6190" "0" "6190" "0" "c.6190A>C" "r.(?)" "p.(Lys2064Gln)" "" "0000653723" "00007995" "10" "6134" "0" "6134" "0" "c.6134G>C" "r.(?)" "p.(Ser2045Thr)" "" "0000653724" "00007995" "10" "6072" "0" "6072" "0" "c.6072T>C" "r.(?)" "p.(His2024=)" "" "0000653725" "00007995" "10" "6058" "0" "6058" "0" "c.6058T>G" "r.(?)" "p.(Ser2020Ala)" "" "0000653726" "00007995" "10" "6045" "0" "6045" "0" "c.6045C>A" "r.(?)" "p.(Asp2015Glu)" "" "0000653727" "00007995" "10" "5883" "0" "5883" "0" "c.5883C>A" "r.(?)" "p.(His1961Gln)" "" "0000653728" "00007995" "10" "5839" "0" "5839" "0" "c.5839T>G" "r.(?)" "p.(Trp1947Gly)" "" "0000653729" "00007995" "10" "5828" "0" "5828" "0" "c.5828T>A" "r.(?)" "p.(Leu1943His)" "" "0000653730" "00007995" "10" "5741" "0" "5741" "0" "c.5741A>G" "r.(?)" "p.(Gln1914Arg)" "" "0000653731" "00007995" "10" "5672" "0" "5672" "0" "c.5672G>A" "r.(?)" "p.(Arg1891Gln)" "" "0000653732" "00007995" "10" "5671" "0" "5671" "0" "c.5671C>T" "r.(?)" "p.(Arg1891Trp)" "" "0000653733" "00007995" "10" "5638" "0" "5638" "0" "c.5638C>A" "r.(?)" "p.(His1880Asn)" "" "0000653734" "00007995" "10" "5617" "0" "5617" "0" "c.5617C>A" "r.(?)" "p.(Gln1873Lys)" "" "0000653735" "00007995" "10" "5414" "0" "5414" "0" "c.5414C>T" "r.(?)" "p.(Ala1805Val)" "" "0000653736" "00007995" "10" "5095" "0" "5095" "0" "c.5095C>T" "r.(?)" "p.(Arg1699Cys)" "" "0000653737" "00007995" "10" "5051" "0" "5051" "0" "c.5051G>A" "r.(?)" "p.(Arg1684His)" "" "0000653738" "00007995" "10" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Cys)" "" "0000653739" "00007995" "10" "4568" "0" "4568" "0" "c.4568C>T" "r.(?)" "p.(Thr1523Ile)" "" "0000653740" "00007995" "10" "4452" "0" "4452" "0" "c.4452C>G" "r.(?)" "p.(Asp1484Glu)" "" "0000653741" "00007995" "10" "4445" "0" "4445" "0" "c.4445C>A" "r.(?)" "p.(Ser1482Tyr)" "" "0000653742" "00007995" "10" "4410" "0" "4410" "0" "c.4410T>C" "r.(?)" "p.(His1470=)" "" "0000653743" "00007995" "10" "4126" "0" "4126" "0" "c.4126A>G" "r.(?)" "p.(Arg1376Gly)" "" "0000653744" "00007995" "10" "4095" "0" "4095" "0" "c.4095A>T" "r.(?)" "p.(Ala1365=)" "" "0000653745" "00007995" "10" "4079" "0" "4079" "0" "c.4079G>A" "r.(?)" "p.(Arg1360His)" "" "0000653746" "00007995" "10" "3794" "0" "3794" "0" "c.3794A>G" "r.(?)" "p.(His1265Arg)" "" "0000653747" "00007995" "10" "3620" "0" "3620" "0" "c.3620C>A" "r.(?)" "p.(Ser1207Tyr)" "" "0000653748" "00007995" "10" "3500" "0" "3500" "0" "c.3500C>G" "r.(?)" "p.(Ala1167Gly)" "" "0000653749" "00007995" "10" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Arg1140Gln)" "" "0000653750" "00007995" "10" "3387" "0" "3387" "0" "c.3387T>C" "r.(?)" "p.(Ser1129=)" "" "0000653751" "00007995" "10" "2938" "0" "2938" "0" "c.2938C>G" "r.(?)" "p.(His980Asp)" "" "0000653752" "00007995" "10" "2857" "0" "2857" "0" "c.2857G>C" "r.(?)" "p.(Glu953Gln)" "" "0000653753" "00007995" "30" "2765" "0" "2765" "0" "c.2765T>C" "r.(?)" "p.(Ile922Thr)" "" "0000653754" "00007995" "30" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Gly837Ser)" "" "0000653755" "00007995" "10" "2508" "0" "2508" "0" "c.2508T>C" "r.(?)" "p.(Asp836=)" "" "0000653757" "00007995" "10" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Glu755Lys)" "" "0000653758" "00007995" "10" "2181" "0" "2181" "0" "c.2181C>A" "r.(?)" "p.(His727Gln)" "" "0000653759" "00007995" "10" "2174" "0" "2174" "0" "c.2174C>T" "r.(?)" "p.(Thr725Ile)" "" "0000653760" "00007995" "10" "2067" "0" "2067" "0" "c.2067T>C" "r.(?)" "p.(Ser689=)" "" "0000653762" "00007995" "10" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Pro478Ser)" "" "0000653763" "00007995" "10" "1360" "0" "1360" "0" "c.1360A>G" "r.(?)" "p.(Thr454Ala)" "" "0000653764" "00007995" "10" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "" "0000653765" "00007995" "10" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Gly419Ser)" "" "0000653766" "00007995" "10" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(Arg412=)" "" "0000653767" "00007995" "10" "995" "0" "995" "0" "c.995G>T" "r.(?)" "p.(Gly332Val)" "" "0000653768" "00007995" "10" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000653769" "00007995" "10" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Asp50Gly)" "" "0000675479" "00007995" "30" "9164" "0" "9164" "0" "c.9164C>T" "r.(?)" "p.(Thr3055Met)" "" "0000675480" "00007995" "30" "9117" "0" "9117" "0" "c.9117C>A" "r.(?)" "p.(Ser3039=)" "" "0000675481" "00007995" "30" "5638" "0" "5638" "0" "c.5638C>A" "r.(?)" "p.(His1880Asn)" "" "0000675482" "00007995" "90" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Gln1596Ter)" "" "0000675483" "00007995" "30" "2590" "0" "2590" "0" "c.2590T>C" "r.(?)" "p.(Ser864Pro)" "" "0000675484" "00007995" "30" "2272" "0" "2272" "0" "c.2272G>C" "r.(?)" "p.(Asp758His)" "" "0000675485" "00007995" "50" "-28055" "0" "-28055" "0" "c.-28055del" "r.(?)" "p.(=)" "" "0000675486" "00007995" "10" "-30024" "0" "-29794" "0" "c.-30024_-29794del" "r.(?)" "p.(=)" "" "0000687868" "00007995" "30" "11440" "0" "11440" "0" "c.11440C>T" "r.(?)" "p.(Arg3814Cys)" "" "0000687869" "00007995" "30" "11198" "0" "11198" "0" "c.11198G>T" "r.(?)" "p.(Gly3733Val)" "" "0000687870" "00007995" "30" "10636" "0" "10636" "0" "c.10636C>G" "r.(?)" "p.(Gln3546Glu)" "" "0000687871" "00007995" "30" "10311" "0" "10311" "0" "c.10311C>T" "r.(?)" "p.(His3437=)" "" "0000687872" "00007995" "90" "10121" "0" "10121" "0" "c.10121del" "r.(?)" "p.(Asp3374AlafsTer17)" "" "0000687873" "00007995" "70" "8071" "0" "8071" "0" "c.8071C>T" "r.(?)" "p.(Gln2691Ter)" "" "0000687874" "00007995" "10" "7720" "0" "7720" "0" "c.7720C>G" "r.(?)" "p.(Gln2574Glu)" "" "0000687875" "00007995" "30" "7410" "0" "7410" "0" "c.7410T>A" "r.(?)" "p.(Ser2470Arg)" "" "0000687876" "00007995" "10" "7398" "0" "7398" "0" "c.7398G>A" "r.(?)" "p.(Pro2466=)" "" "0000687877" "00007995" "30" "6309" "0" "6309" "0" "c.6309C>A" "r.(?)" "p.(Thr2103=)" "" "0000687878" "00007995" "30" "6182" "0" "6182" "0" "c.6182C>T" "r.(?)" "p.(Ala2061Val)" "" "0000687879" "00007995" "50" "5345" "0" "5345" "0" "c.5345C>G" "r.(?)" "p.(Thr1782Arg)" "" "0000687880" "00007995" "30" "3832" "0" "3832" "0" "c.3832A>G" "r.(?)" "p.(Arg1278Gly)" "" "0000687881" "00007995" "30" "3829" "0" "3829" "0" "c.3829G>C" "r.(?)" "p.(Glu1277Gln)" "" "0000687882" "00007995" "30" "3776" "0" "3776" "0" "c.3776G>T" "r.(?)" "p.(Gly1259Val)" "" "0000687883" "00007995" "90" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Arg1140Ter)" "" "0000687884" "00007995" "30" "2707" "0" "2707" "0" "c.2707A>G" "r.(?)" "p.(Arg903Gly)" "" "0000687885" "00007995" "30" "2466" "0" "2466" "0" "c.2466T>C" "r.(?)" "p.(His822=)" "" "0000687886" "00007995" "10" "2366" "0" "2366" "0" "c.2366G>A" "r.(?)" "p.(Arg789His)" "" "0000687887" "00007995" "30" "-31664" "0" "-31664" "0" "c.-31664T>A" "r.(?)" "p.(=)" "" "0000716811" "00007995" "10" "11803" "0" "11803" "0" "c.11803T>C" "r.(?)" "p.(Ser3935Pro)" "" "0000716812" "00007995" "30" "11674" "0" "11674" "0" "c.11674C>T" "r.(?)" "p.(Arg3892Trp)" "" "0000716813" "00007995" "30" "11634" "0" "11634" "0" "c.11634G>T" "r.(?)" "p.(Arg3878Ser)" "" "0000716814" "00007995" "50" "11165" "0" "11165" "0" "c.11165C>A" "r.(?)" "p.(Ser3722Tyr)" "" "0000716815" "00007995" "10" "10672" "0" "10672" "0" "c.10672T>C" "r.(?)" "p.(Ser3558Pro)" "" "0000716816" "00007995" "30" "10650" "0" "10650" "0" "c.10650A>G" "r.(?)" "p.(Glu3550=)" "" "0000716817" "00007995" "10" "10386" "0" "10386" "0" "c.10386C>T" "r.(?)" "p.(Ser3462=)" "" "0000716818" "00007995" "30" "10285" "0" "10285" "0" "c.10285G>T" "r.(?)" "p.(Glu3429*)" "" "0000716819" "00007995" "30" "10262" "0" "10262" "0" "c.10262G>A" "r.(?)" "p.(Ser3421Asn)" "" "0000716820" "00007995" "90" "9947" "0" "9947" "0" "c.9947C>G" "r.(?)" "p.(Ser3316*)" "" "0000716821" "00007995" "30" "9774" "0" "9774" "0" "c.9774C>T" "r.(?)" "p.(His3258=)" "" "0000716822" "00007995" "90" "9740" "0" "9740" "0" "c.9740C>A" "r.(?)" "p.(Ser3247Ter)" "" "0000716823" "00007995" "90" "9740" "0" "9740" "0" "c.9740C>A" "r.(?)" "p.(Ser3247Ter)" "" "0000716824" "00007995" "90" "9721" "0" "9721" "0" "c.9721G>T" "r.(?)" "p.(Gly3241*)" "" "0000716825" "00007995" "10" "9262" "0" "9262" "0" "c.9262G>A" "r.(?)" "p.(Gly3088Arg)" "" "0000716826" "00007995" "30" "9117" "0" "9117" "0" "c.9117C>G" "r.(?)" "p.(Ser3039=)" "" "0000716827" "00007995" "30" "8802" "0" "8802" "0" "c.8802A>C" "r.(?)" "p.(Gln2934His)" "" "0000716828" "00007995" "30" "8660" "0" "8660" "0" "c.8660A>C" "r.(?)" "p.(Gln2887Pro)" "" "0000716829" "00007995" "30" "8486" "0" "8486" "0" "c.8486G>A" "r.(?)" "p.(Arg2829His)" "" "0000716830" "00007995" "30" "7801" "0" "7801" "0" "c.7801G>A" "r.(?)" "p.(Asp2601Asn)" "" "0000716831" "00007995" "90" "7339" "0" "7339" "0" "c.7339C>T" "r.(?)" "p.(Arg2447Ter)" "" "0000716832" "00007995" "30" "6848" "0" "6848" "0" "c.6848G>C" "r.(?)" "p.(Arg2283Thr)" "" "0000716833" "00007995" "90" "6715" "0" "6715" "0" "c.6715del" "r.(?)" "p.(Arg2239Glyfs*180)" "" "0000716834" "00007995" "10" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Gly2202Ser)" "" "0000716835" "00007995" "10" "6603" "0" "6603" "0" "c.6603T>C" "r.(?)" "p.(Asp2201=)" "" "0000716836" "00007995" "10" "6430" "0" "6430" "0" "c.6430C>T" "r.(?)" "p.(Pro2144Ser)" "" "0000716837" "00007995" "50" "6360" "0" "6360" "0" "c.6360T>G" "r.(?)" "p.(Asp2120Glu)" "" "0000716838" "00007995" "50" "6353" "0" "6353" "0" "c.6353A>G" "r.(?)" "p.(His2118Arg)" "" "0000716839" "00007995" "50" "6109" "0" "6109" "0" "c.6109C>T" "r.(?)" "p.(Arg2037*)" "" "0000716840" "00007995" "30" "6045" "0" "6045" "0" "c.6045C>T" "r.(?)" "p.(Asp2015=)" "" "0000716841" "00007995" "50" "5746" "0" "5746" "0" "c.5746T>C" "r.(?)" "p.(Ser1916Pro)" "" "0000716842" "00007995" "30" "5455" "0" "5455" "0" "c.5455T>C" "r.(?)" "p.(Ser1819Pro)" "" "0000716843" "00007995" "10" "5355" "0" "5355" "0" "c.5355C>G" "r.(?)" "p.(Ser1785Arg)" "" "0000716844" "00007995" "30" "4738" "0" "4738" "0" "c.4738G>C" "r.(?)" "p.(Glu1580Gln)" "" "0000716845" "00007995" "50" "4535" "0" "4535" "0" "c.4535C>G" "r.(?)" "p.(Ser1512Cys)" "" "0000716846" "00007995" "90" "4420" "0" "4420" "0" "c.4420C>T" "r.(?)" "p.(Arg1474*)" "" "0000716847" "00007995" "10" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Gly1414Arg)" "" "0000716848" "00007995" "10" "3936" "0" "3936" "0" "c.3936T>A" "r.(?)" "p.(His1312Gln)" "" "0000716849" "00007995" "30" "3609" "0" "3609" "0" "c.3609G>T" "r.(?)" "p.(Arg1203Ser)" "" "0000716850" "00007995" "90" "3551" "0" "3551" "0" "c.3551C>A" "r.(?)" "p.(Ser1184*)" "" "0000716851" "00007995" "10" "3338" "0" "3338" "0" "c.3338G>A" "r.(?)" "p.(Arg1113His)" "" "0000716852" "00007995" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Gln977*)" "" "0000716853" "00007995" "30" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(Ser860=)" "" "0000716854" "00007995" "50" "2476" "0" "2476" "0" "c.2476C>T" "r.(?)" "p.(Arg826Ter)" "" "0000716855" "00007995" "50" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000716856" "00007995" "70" "2175" "0" "2181" "0" "c.2175_2181del" "r.(?)" "p.(Gly726AspfsTer70)" "" "0000716857" "00007995" "50" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Cys)" "" "0000716858" "00007995" "10" "1992" "0" "1992" "0" "c.1992C>A" "r.(?)" "p.(His664Gln)" "" "0000716859" "00007995" "50" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Asp514Glu)" "" "0000716860" "00007995" "90" "1378" "0" "1378" "0" "c.1378G>T" "r.(?)" "p.(Glu460*)" "" "0000716861" "00007995" "30" "139" "-9" "139" "-9" "c.139-9T>C" "r.(=)" "p.(=)" "" "0000716862" "00007995" "50" "-31059" "0" "-31021" "0" "c.-31059_-31021del" "r.(?)" "p.(=)" "" "0000788025" "00007995" "99" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761Cysfs*36)" "3" "0000788026" "00007995" "99" "4042" "0" "4042" "0" "c.4042C>T" "r.(?)" "p.(Gln1348*)" "3" "0000790837" "00007995" "50" "9565" "0" "9565" "0" "c.9565G>C" "r.(?)" "p.(Ala3189Pro)" "" "0000798780" "00007995" "50" "11959" "0" "11959" "0" "c.11959G>A" "r.(?)" "p.(Gly3987Ser)" "" "0000798781" "00007995" "30" "10254" "0" "10254" "0" "c.10254A>T" "r.(?)" "p.(Ala3418=)" "" "0000798782" "00007995" "90" "10225" "0" "10225" "0" "c.10225C>T" "r.(?)" "p.(Arg3409*)" "" "0000798783" "00007995" "30" "10053" "0" "10053" "0" "c.10053C>T" "r.(?)" "p.(Asp3351=)" "" "0000798784" "00007995" "30" "6858" "0" "6858" "0" "c.6858C>T" "r.(?)" "p.(His2286=)" "" "0000798785" "00007995" "30" "6023" "0" "6023" "0" "c.6023A>G" "r.(?)" "p.(His2008Arg)" "" "0000798786" "00007995" "30" "5175" "0" "5175" "0" "c.5175C>T" "r.(?)" "p.(His1725=)" "" "0000798787" "00007995" "30" "4772" "0" "4772" "0" "c.4772G>A" "r.(?)" "p.(Gly1591Glu)" "" "0000798788" "00007995" "30" "3989" "0" "3989" "0" "c.3989G>T" "r.(?)" "p.(Gly1330Val)" "" "0000798789" "00007995" "90" "3448" "0" "3448" "0" "c.3448C>T" "r.(?)" "p.(Arg1150*)" "" "0000798790" "00007995" "90" "3321" "0" "3321" "0" "c.3321del" "r.(?)" "p.(Gly1109GlufsTer13)" "" "0000798791" "00007995" "30" "3057" "0" "3057" "0" "c.3057G>A" "r.(?)" "p.(Ala1019=)" "" "0000798792" "00007995" "30" "2782" "0" "2782" "0" "c.2782G>T" "r.(?)" "p.(Ala928Ser)" "" "0000798793" "00007995" "30" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Asp633=)" "" "0000798794" "00007995" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "" "0000798795" "00007995" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000798796" "00007995" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "" "0000798797" "00007995" "50" "-26789" "0" "-26789" "0" "c.-26789G>A" "r.(?)" "p.(=)" "" "0000848300" "00007995" "90" "9947" "0" "9947" "0" "c.9947C>G" "r.(?)" "p.(Ser3316*)" "" "0000848301" "00007995" "90" "7564" "0" "7564" "0" "c.7564C>T" "r.(?)" "p.(Gln2522*)" "" "0000848302" "00007995" "50" "5630" "0" "5630" "0" "c.5630G>A" "r.(?)" "p.(Gly1877Asp)" "" "0000848303" "00007995" "90" "4042" "0" "4042" "0" "c.4042C>T" "r.(?)" "p.(Gln1348*)" "" "0000848304" "00007995" "30" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Arg1236His)" "" "0000848305" "00007995" "90" "2476" "0" "2476" "0" "c.2476C>T" "r.(?)" "p.(Arg826Ter)" "" "0000848306" "00007995" "50" "1714" "0" "1714" "0" "c.1714C>G" "r.(?)" "p.(Arg572Gly)" "" "0000848307" "00007995" "90" "1378" "0" "1378" "0" "c.1378G>T" "r.(?)" "p.(Glu460*)" "" "0000848308" "00007995" "50" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42Gln)" "" "0000848309" "00007995" "30" "-31911" "0" "-31911" "0" "c.-31911T>C" "r.(?)" "p.(=)" "" "0000848310" "00007995" "50" "-31972" "0" "-31972" "0" "c.-31972C>T" "r.(?)" "p.(=)" "" "0000856974" "00007995" "30" "11741" "0" "11741" "0" "c.11741A>T" "r.(?)" "p.(Gln3914Leu)" "" "0000856975" "00007995" "50" "11622" "0" "11622" "0" "c.11622G>C" "r.(?)" "p.(Glu3874Asp)" "" "0000856976" "00007995" "50" "11203" "0" "11203" "0" "c.11203C>G" "r.(?)" "p.(Gln3735Glu)" "" "0000856977" "00007995" "30" "10359" "0" "10359" "0" "c.10359G>A" "r.(?)" "p.(Ser3453=)" "" "0000856978" "00007995" "30" "10348" "0" "10348" "0" "c.10348T>C" "r.(?)" "p.(Tyr3450His)" "" "0000856979" "00007995" "30" "10341" "0" "10341" "0" "c.10341A>G" "r.(?)" "p.(Gly3447=)" "" "0000856980" "00007995" "30" "10318" "0" "10318" "0" "c.10318T>C" "r.(?)" "p.(Ser3440Pro)" "" "0000856981" "00007995" "50" "10110" "0" "10110" "0" "c.10110G>T" "r.(?)" "p.(Glu3370Asp)" "" "0000856982" "00007995" "30" "9834" "0" "9834" "0" "c.9834C>T" "r.(?)" "p.(His3278=)" "" "0000856983" "00007995" "30" "9717" "0" "9717" "0" "c.9717T>A" "r.(?)" "p.(His3239Gln)" "" "0000856984" "00007995" "30" "9026" "0" "9026" "0" "c.9026G>A" "r.(?)" "p.(Arg3009Gln)" "" "0000856985" "00007995" "30" "8406" "0" "8406" "0" "c.8406C>T" "r.(?)" "p.(His2802=)" "" "0000856986" "00007995" "30" "8166" "0" "8166" "0" "c.8166G>A" "r.(?)" "p.(Glu2722=)" "" "0000856987" "00007995" "30" "8054" "0" "8054" "0" "c.8054G>A" "r.(?)" "p.(Arg2685Gln)" "" "0000856988" "00007995" "30" "7956" "0" "7956" "0" "c.7956A>C" "r.(?)" "p.(Glu2652Asp)" "" "0000856989" "00007995" "30" "7942" "0" "7942" "0" "c.7942T>C" "r.(?)" "p.(Ser2648Pro)" "" "0000856990" "00007995" "90" "7339" "0" "7339" "0" "c.7339C>T" "r.(?)" "p.(Arg2447Ter)" "" "0000856991" "00007995" "30" "7319" "0" "7319" "0" "c.7319G>C" "r.(?)" "p.(Gly2440Ala)" "" "0000856992" "00007995" "30" "7158" "0" "7158" "0" "c.7158C>T" "r.(?)" "p.(His2386=)" "" "0000856993" "00007995" "50" "7088" "0" "7088" "0" "c.7088C>A" "r.(?)" "p.(Ser2363Tyr)" "" "0000856994" "00007995" "30" "6873" "0" "6873" "0" "c.6873T>G" "r.(?)" "p.(Gly2291=)" "" "0000856995" "00007995" "30" "6690" "0" "6690" "0" "c.6690A>T" "r.(?)" "p.(Ser2230=)" "" "0000856996" "00007995" "50" "6304" "0" "6304" "0" "c.6304T>C" "r.(?)" "p.(Ser2102Pro)" "" "0000856997" "00007995" "30" "6065" "0" "6065" "0" "c.6065T>C" "r.(?)" "p.(Ile2022Thr)" "" "0000856998" "00007995" "30" "5840" "0" "5840" "0" "c.5840G>A" "r.(?)" "p.(Trp1947Ter)" "" "0000856999" "00007995" "30" "5839" "0" "5839" "0" "c.5839T>C" "r.(?)" "p.(Trp1947Arg)" "" "0000857000" "00007995" "50" "5812" "0" "5812" "0" "c.5812G>A" "r.(?)" "p.(Ala1938Thr)" "" "0000857001" "00007995" "50" "5806" "0" "5806" "0" "c.5806G>C" "r.(?)" "p.(Gly1936Arg)" "" "0000857002" "00007995" "90" "5392" "0" "5392" "0" "c.5392C>T" "r.(?)" "p.(Arg1798*)" "" "0000857003" "00007995" "30" "5383" "0" "5383" "0" "c.5383G>A" "r.(?)" "p.(Glu1795Lys)" "" "0000857004" "00007995" "30" "5331" "0" "5331" "0" "c.5331C>T" "r.(?)" "p.(Ser1777=)" "" "0000857005" "00007995" "30" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Lys)" "" "0000857006" "00007995" "30" "3896" "0" "3896" "0" "c.3896G>A" "r.(?)" "p.(Arg1299Gln)" "" "0000857007" "00007995" "30" "3813" "0" "3813" "0" "c.3813C>T" "r.(?)" "p.(Ser1271=)" "" "0000857008" "00007995" "50" "3419" "0" "3419" "0" "c.3419G>C" "r.(?)" "p.(Arg1140Pro)" "" "0000857009" "00007995" "50" "3073" "0" "3073" "0" "c.3073G>A" "r.(?)" "p.(Ala1025Thr)" "" "0000857010" "00007995" "90" "2976" "0" "2977" "0" "c.2976_2977del" "r.(?)" "p.(Arg992Serfs*31)" "" "0000857011" "00007995" "30" "2655" "0" "2655" "0" "c.2655G>A" "r.(?)" "p.(Gly885=)" "" "0000857012" "00007995" "90" "2477" "0" "2493" "0" "c.2477_2493dup" "r.(?)" "p.(Ser832Glufs*36)" "" "0000857013" "00007995" "30" "2460" "0" "2460" "0" "c.2460C>G" "r.(?)" "p.(Ser820=)" "" "0000857014" "00007995" "30" "2366" "0" "2366" "0" "c.2366G>T" "r.(?)" "p.(Arg789Leu)" "" "0000857015" "00007995" "50" "2176" "0" "2176" "0" "c.2176G>C" "r.(?)" "p.(Gly726Arg)" "" "0000857016" "00007995" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Asp579=)" "" "0000857017" "00007995" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(His497=)" "" "0000857018" "00007995" "90" "1484" "0" "1484" "0" "c.1484C>A" "r.(?)" "p.(Ser495*)" "" "0000857019" "00007995" "90" "138" "1" "138" "1" "c.138+1G>C" "r.spl?" "p.?" "" "0000869068" "00007995" "70" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000869103" "00007995" "70" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761CysfsTer36)" "" "0000873550" "00007995" "70" "5841" "0" "5841" "0" "c.5841G>A" "r.(?)" "p.(Trp1947*)" "" "0000873551" "00007995" "70" "3321" "0" "3321" "0" "c.3321del" "r.(?)" "p.(Gly1109Glufs*13)" "" "0000873552" "00007995" "70" "3321" "0" "3321" "0" "c.3321del" "r.(?)" "p.(Gly1109Glufs*13)" "" "0000873557" "00007995" "70" "3905" "0" "3905" "0" "c.3905C>A" "r.(?)" "p.(Ser1302*)" "" "0000873558" "00007995" "70" "3905" "0" "3905" "0" "c.3905C>A" "r.(?)" "p.(Ser1302*)" "" "0000873559" "00007995" "70" "3905" "0" "3905" "0" "c.3905C>A" "r.(?)" "p.(Ser1302*)" "" "0000881221" "00007995" "70" "11048" "0" "11048" "0" "c.11048del" "r.(?)" "p.(Gly3683AspfsTer32)" "" "0000882772" "00007995" "50" "10909" "0" "10909" "0" "c.10909T>A" "r.(?)" "p.(Ser3637Thr)" "" "0000882773" "00007995" "50" "10477" "0" "10477" "0" "c.10477G>A" "r.(?)" "p.(Glu3493Lys)" "" "0000882774" "00007995" "90" "9947" "0" "9947" "0" "c.9947C>G" "r.(?)" "p.(Ser3316*)" "" "0000882775" "00007995" "90" "9740" "0" "9740" "0" "c.9740C>A" "r.(?)" "p.(Ser3247Ter)" "" "0000882776" "00007995" "90" "7031" "0" "7031" "0" "c.7031C>G" "r.(?)" "p.(Ser2344*)" "" "0000882777" "00007995" "50" "7021" "0" "7021" "0" "c.7021T>A" "r.(?)" "p.(Ser2341Thr)" "" "0000882778" "00007995" "50" "6345" "0" "6345" "0" "c.6345A>T" "r.(?)" "p.(Gln2115His)" "" "0000882779" "00007995" "30" "6309" "0" "6309" "0" "c.6309C>A" "r.(?)" "p.(Thr2103=)" "" "0000882780" "00007995" "90" "5842" "0" "5842" "0" "c.5842G>T" "r.(?)" "p.(Glu1948*)" "" "0000882781" "00007995" "30" "5610" "0" "5610" "0" "c.5610T>C" "r.(?)" "p.(Asn1870=)" "" "0000882782" "00007995" "30" "5415" "0" "5415" "0" "c.5415G>A" "r.(?)" "p.(Ala1805=)" "" "0000882783" "00007995" "30" "3551" "0" "3551" "0" "c.3551C>T" "r.(?)" "p.(Ser1184Leu)" "" "0000882784" "00007995" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Gln977*)" "" "0000882785" "00007995" "30" "2865" "0" "2865" "0" "c.2865T>C" "r.(?)" "p.(His955=)" "" "0000882786" "00007995" "50" "2504" "0" "2504" "0" "c.2504A>C" "r.(?)" "p.(Gln835Pro)" "" "0000882787" "00007995" "30" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Thr485=)" "" "0000882788" "00007995" "30" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Pro478Ser)" "" "0000882789" "00007995" "50" "209" "0" "209" "0" "c.209A>C" "r.(?)" "p.(Asp70Ala)" "" "0000882790" "00007995" "10" "-27598" "0" "-27598" "0" "c.-27598A>C" "r.(?)" "p.(=)" "" "0000882791" "00007995" "50" "-29826" "0" "-29826" "0" "c.-29826G>T" "r.(?)" "p.(=)" "" "0000910777" "00007995" "90" "10121" "0" "10121" "0" "c.10121del" "r.(?)" "p.(Asp3374AlafsTer17)" "" "0000910778" "00007995" "10" "5741" "0" "5741" "0" "c.5741A>G" "r.(?)" "p.(Gln1914Arg)" "" "0000910779" "00007995" "50" "4249" "0" "4249" "0" "c.4249G>A" "r.(?)" "p.(Gly1417Arg)" "" "0000922948" "00007995" "90" "10984" "0" "10984" "0" "c.10984del" "r.(?)" "p.(Ser3662Valfs*53)" "" "0000922949" "00007995" "50" "10117" "0" "10117" "0" "c.10117C>T" "r.(?)" "p.(Arg3373Cys)" "" "0000922950" "00007995" "90" "4414" "0" "4415" "0" "c.4414_4415insTCTAGGCACTCAGCTCT" "r.(?)" "p.(Gln1472Leufs*2)" "" "0000922951" "00007995" "50" "3275" "0" "3275" "0" "c.3275A>C" "r.(?)" "p.(Asp1092Ala)" "" "0000922952" "00007995" "90" "2767" "0" "2767" "0" "c.2767dup" "r.(?)" "p.(Ser923Phefs*2)" "" "0000922953" "00007995" "90" "2282" "0" "2285" "0" "c.2282_2285del" "r.(?)" "p.(Ser761CysfsTer36)" "" "0000928010" "00007995" "50" "11581" "0" "11581" "0" "c.11581T>A" "r.(?)" "p.(Ser3861Thr)" "" "0000928012" "00007995" "50" "10886" "0" "10886" "0" "c.10886A>G" "r.(?)" "p.(His3629Arg)" "" "0000928013" "00007995" "90" "7267" "0" "7268" "0" "c.7267_7268del" "r.(?)" "p.(Gln2423Valfs*2)" "" "0000928015" "00007995" "50" "3692" "0" "3692" "0" "c.3692G>T" "r.(?)" "p.(Arg1231Met)" "" "0000928016" "00007995" "50" "2459" "0" "2459" "0" "c.2459C>A" "r.(?)" "p.(Ser820Tyr)" "" "0000928017" "00007995" "90" "2271" "0" "2271" "0" "c.2271del" "r.(?)" "p.(Asp758Thrfs*40)" "" "0000928018" "00007995" "50" "1791" "0" "1791" "0" "c.1791C>G" "r.(?)" "p.(Ser597Arg)" "" "0000935146" "00007995" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501*)" "" "0000946976" "00007995" "90" "9085" "0" "9085" "0" "c.9085C>T" "r.(?)" "p.(Gln3029*)" "" "0000946977" "00007995" "90" "8912" "0" "8912" "0" "c.8912del" "r.(?)" "p.(Arg2971Asnfs*96)" "" "0000946978" "00007995" "90" "6718" "0" "6718" "0" "c.6718G>T" "r.(?)" "p.(Gly2240*)" "" "0000946979" "00007995" "90" "6367" "0" "6367" "0" "c.6367C>T" "r.(?)" "p.(Gln2123*)" "" "0000946980" "00007995" "50" "4056" "0" "4056" "0" "c.4056T>A" "r.(?)" "p.(Ser1352Arg)" "" "0000946981" "00007995" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "" "0000960514" "00007995" "50" "10178" "0" "10178" "0" "c.10178A>G" "r.(?)" "p.(His3393Arg)" "" "0000960521" "00007995" "10" "4095" "0" "4095" "0" "c.4095A>T" "r.(?)" "p.(Ala1365=)" "" "0000973299" "00007995" "90" "12064" "0" "12064" "0" "c.12064A>T" "r.(?)" "p.(Lys4022Ter)" "" "0000973300" "00007995" "50" "11881" "0" "11881" "0" "c.11881G>T" "r.(?)" "p.(Glu3961*)" "" "0000973301" "00007995" "50" "11827" "0" "11827" "0" "c.11827G>T" "r.(?)" "p.(Gly3943*)" "" "0000973302" "00007995" "50" "11567" "0" "11567" "0" "c.11567G>A" "r.(?)" "p.(Ser3856Asn)" "" "0000973303" "00007995" "90" "11452" "0" "11452" "0" "c.11452C>T" "r.(?)" "p.(Gln3818*)" "" "0000973304" "00007995" "30" "10482" "0" "10482" "0" "c.10482A>G" "r.(?)" "p.(=)" "" "0000973305" "00007995" "90" "10225" "0" "10225" "0" "c.10225C>T" "r.(?)" "p.(Arg3409*)" "" "0000973306" "00007995" "10" "9959" "0" "9959" "0" "c.9959G>A" "r.(?)" "p.(Arg3320His)" "" "0000973307" "00007995" "10" "9956" "0" "9956" "0" "c.9956C>G" "r.(?)" "p.(Pro3319Arg)" "" "0000973308" "00007995" "30" "9955" "0" "9955" "0" "c.9955C>G" "r.(?)" "p.(Pro3319Ala)" "" "0000973309" "00007995" "90" "9947" "0" "9947" "0" "c.9947C>G" "r.(?)" "p.(Ser3316*)" "" "0000973310" "00007995" "50" "9740" "0" "9740" "0" "c.9740C>A" "r.(?)" "p.(Ser3247Ter)" "" "0000973311" "00007995" "90" "7837" "0" "7837" "0" "c.7837A>T" "r.(?)" "p.(Arg2613*)" "" "0000973312" "00007995" "30" "7628" "0" "7628" "0" "c.7628G>A" "r.(?)" "p.(Ser2543Asn)" "" "0000973313" "00007995" "50" "7487" "0" "7487" "0" "c.7487del" "r.(?)" "p.(Thr2496Asnfs*104)" "" "0000973314" "00007995" "50" "6140" "0" "6140" "0" "c.6140G>A" "r.(?)" "p.(Ser2047Asn)" "" "0000973315" "00007995" "50" "6032" "0" "6034" "0" "c.6032_6034del" "r.(?)" "p.(Leu2011del)" "" "0000973316" "00007995" "50" "4087" "0" "4088" "0" "c.4087_4088insTCC" "r.(?)" "p.(Gln1362_Gln1363insLeu)" "" "0000973317" "00007995" "50" "3887" "0" "3887" "0" "c.3887G>A" "r.(?)" "p.(Gly1296Glu)" "" "0000973318" "00007995" "50" "3748" "0" "3748" "0" "c.3748T>C" "r.(?)" "p.(Ser1250Pro)" "" "0000973319" "00007995" "30" "3716" "0" "3716" "0" "c.3716A>C" "r.(?)" "p.(Glu1239Ala)" "" "0000973320" "00007995" "50" "3547" "0" "3547" "0" "c.3547C>T" "r.(?)" "p.(Gln1183*)" "" "0000973321" "00007995" "30" "3436" "0" "3436" "0" "c.3436C>A" "r.(?)" "p.(His1146Asn)" "" "0000973322" "00007995" "90" "3321" "0" "3321" "0" "c.3321del" "r.(?)" "p.(Gly1109GlufsTer13)" "" "0000973323" "00007995" "30" "3022" "0" "3022" "0" "c.3022C>A" "r.(?)" "p.(Pro1008Thr)" "" "0000973324" "00007995" "50" "2779" "0" "2779" "0" "c.2779C>T" "r.(?)" "p.(Gln927*)" "" "0000973325" "00007995" "50" "1849" "0" "1849" "0" "c.1849C>T" "r.(?)" "p.(Gln617*)" "" "0000973326" "00007995" "50" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Gln605*)" "" "0000973327" "00007995" "10" "1683" "0" "1683" "0" "c.1683G>C" "r.(?)" "p.(Gln561His)" "" "0000973328" "00007995" "30" "975" "0" "975" "0" "c.975G>A" "r.(?)" "p.(=)" "" "0000973329" "00007995" "50" "139" "-9" "139" "-9" "c.139-9T>G" "r.(=)" "p.(=)" "" "0000973330" "00007995" "50" "63" "0" "63" "0" "c.63dup" "r.(?)" "p.(Asp22Argfs*2)" "" "0000973331" "00007995" "50" "-28680" "0" "-28679" "0" "c.-28680_-28679dup" "r.(?)" "p.(=)" "" "0000973332" "00007995" "30" "-29020" "0" "-29020" "0" "c.-29020G>T" "r.(?)" "p.(=)" "" "0000985121" "00007995" "70" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501*)" "" "0000990284" "00007995" "30" "11089" "0" "11089" "0" "c.11089C>T" "r.(?)" "p.(Arg3697Cys)" "" "0000990285" "00007995" "50" "11057" "0" "11057" "0" "c.11057G>C" "r.(?)" "p.(Gly3686Ala)" "" "0000990286" "00007995" "30" "10559" "0" "10559" "0" "c.10559A>C" "r.(?)" "p.(Gln3520Pro)" "" "0000990287" "00007995" "50" "10538" "0" "10538" "0" "c.10538C>T" "r.(?)" "p.(Ala3513Val)" "" "0000990288" "00007995" "30" "10328" "0" "10328" "0" "c.10328G>A" "r.(?)" "p.(Arg3443Lys)" "" "0000990289" "00007995" "30" "10262" "0" "10262" "0" "c.10262G>A" "r.(?)" "p.(Ser3421Asn)" "" "0000990290" "00007995" "30" "9812" "0" "9812" "0" "c.9812C>A" "r.(?)" "p.(Ser3271Tyr)" "" "0000990291" "00007995" "30" "9787" "0" "9787" "0" "c.9787G>A" "r.(?)" "p.(Gly3263Ser)" "" "0000990292" "00007995" "30" "9743" "0" "9743" "0" "c.9743G>C" "r.(?)" "p.(Arg3248Thr)" "" "0000990293" "00007995" "30" "9637" "0" "9637" "0" "c.9637T>C" "r.(?)" "p.(Ser3213Pro)" "" "0000990294" "00007995" "30" "9214" "0" "9214" "0" "c.9214T>A" "r.(?)" "p.(Ser3072Thr)" "" "0000990295" "00007995" "50" "8803" "0" "8803" "0" "c.8803G>A" "r.(?)" "p.(Glu2935Lys)" "" "0000990296" "00007995" "30" "8311" "0" "8311" "0" "c.8311C>G" "r.(?)" "p.(Gln2771Glu)" "" "0000990297" "00007995" "50" "8170" "0" "8170" "0" "c.8170G>A" "r.(?)" "p.(Ala2724Thr)" "" "0000990298" "00007995" "30" "7646" "0" "7646" "0" "c.7646T>A" "r.(?)" "p.(Val2549Glu)" "" "0000990299" "00007995" "90" "7467" "0" "7467" "0" "c.7467del" "r.(?)" "p.(Ser2490Leufs*110)" "" "0000990300" "00007995" "50" "7267" "0" "7268" "0" "c.7267_7268del" "r.(?)" "p.(Gln2423Valfs*2)" "" "0000990301" "00007995" "50" "6218" "0" "6219" "0" "c.6218_6219del" "r.(?)" "p.(Lys2073Argfs*25)" "" "0000990302" "00007995" "90" "6109" "0" "6109" "0" "c.6109C>T" "r.(?)" "p.(Arg2037*)" "" "0000990303" "00007995" "50" "5998" "0" "5998" "0" "c.5998A>G" "r.(?)" "p.(Ser2000Gly)" "" "0000990304" "00007995" "30" "5954" "0" "5954" "0" "c.5954C>T" "r.(?)" "p.(Ser1985Phe)" "" "0000990305" "00007995" "30" "5773" "0" "5773" "0" "c.5773C>G" "r.(?)" "p.(Gln1925Glu)" "" "0000990306" "00007995" "30" "5504" "0" "5504" "0" "c.5504G>C" "r.(?)" "p.(Ser1835Thr)" "" "0000990307" "00007995" "50" "5422" "0" "5422" "0" "c.5422G>A" "r.(?)" "p.(Glu1808Lys)" "" "0000990308" "00007995" "30" "5393" "0" "5393" "0" "c.5393G>A" "r.(?)" "p.(Arg1798Gln)" "" "0000990309" "00007995" "30" "5159" "0" "5159" "0" "c.5159G>C" "r.(?)" "p.(Ser1720Thr)" "" "0000990310" "00007995" "50" "4855" "0" "4855" "0" "c.4855T>G" "r.(?)" "p.(Tyr1619Asp)" "" "0000990311" "00007995" "90" "4544" "0" "4544" "0" "c.4544C>A" "r.(?)" "p.(Ser1515*)" "" "0000990312" "00007995" "90" "4271" "0" "4272" "0" "c.4271_4272del" "r.(?)" "p.(Lys1424Argfs*25)" "" "0000990313" "00007995" "30" "4249" "0" "4249" "0" "c.4249G>A" "r.(?)" "p.(Gly1417Arg)" "" "0000990314" "00007995" "30" "4067" "0" "4067" "0" "c.4067G>C" "r.(?)" "p.(Arg1356Thr)" "" "0000990315" "00007995" "50" "4015" "0" "4015" "0" "c.4015C>A" "r.(?)" "p.(His1339Asn)" "" "0000990316" "00007995" "50" "3874" "0" "3874" "0" "c.3874A>T" "r.(?)" "p.(Arg1292*)" "" "0000990317" "00007995" "30" "3623" "0" "3623" "0" "c.3623A>G" "r.(?)" "p.(His1208Arg)" "" "0000990318" "00007995" "30" "3541" "0" "3541" "0" "c.3541C>T" "r.(?)" "p.(His1181Tyr)" "" "0000990319" "00007995" "90" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Trp1064*)" "" "0000990320" "00007995" "30" "3106" "0" "3106" "0" "c.3106C>G" "r.(?)" "p.(Arg1036Gly)" "" "0000990321" "00007995" "90" "3059" "0" "3059" "0" "c.3059C>G" "r.(?)" "p.(Ser1020*)" "" "0000990322" "00007995" "50" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Gly1015Ser)" "" "0000990323" "00007995" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Gln977*)" "" "0000990324" "00007995" "50" "2800" "0" "2800" "0" "c.2800G>C" "r.(?)" "p.(Glu934Gln)" "" "0000990325" "00007995" "50" "2758" "0" "2758" "0" "c.2758G>T" "r.(?)" "p.(Ala920Ser)" "" "0000990326" "00007995" "30" "2627" "0" "2627" "0" "c.2627C>T" "r.(?)" "p.(Ser876Phe)" "" "0000990327" "00007995" "50" "2554" "0" "2554" "0" "c.2554A>T" "r.(?)" "p.(Arg852Trp)" "" "0000990328" "00007995" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000990329" "00007995" "30" "2224" "0" "2224" "0" "c.2224T>C" "r.(?)" "p.(Ser742Pro)" "" "0000990330" "00007995" "30" "2060" "0" "2060" "0" "c.2060A>T" "r.(?)" "p.(Asn687Ile)" "" "0000990331" "00007995" "30" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(His684Gln)" "" "0000990332" "00007995" "30" "2036" "0" "2036" "0" "c.2036A>T" "r.(?)" "p.(Lys679Ile)" "" "0000990333" "00007995" "30" "2018" "0" "2018" "0" "c.2018C>G" "r.(?)" "p.(Ser673Cys)" "" "0000990334" "00007995" "30" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Gly525Arg)" "" "0000990335" "00007995" "50" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Gly463Arg)" "" "0000990336" "00007995" "50" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Ala405Val)" "" "0000990337" "00007995" "50" "1157" "0" "1157" "0" "c.1157C>G" "r.(?)" "p.(Ser386Cys)" "" "0000990338" "00007995" "50" "1020" "0" "1020" "0" "c.1020T>A" "r.(?)" "p.(Asp340Glu)" "" "0000990339" "00007995" "30" "558" "0" "558" "0" "c.558C>A" "r.(?)" "p.(Asn186Lys)" "" "0000990340" "00007995" "30" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asn176Ser)" "" "0000990341" "00007995" "30" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Trp)" "" "0000990342" "00007995" "50" "-30599" "0" "-30599" "0" "c.-30599G>A" "r.(?)" "p.(=)" "" "0000990343" "00007995" "50" "-31192" "0" "-31192" "0" "c.-31192C>T" "r.(?)" "p.(=)" "" "0001013211" "00007995" "90" "10018" "0" "10018" "0" "c.10018del" "r.(?)" "p.(Ala3340Profs*51)" "" "0001013212" "00007995" "90" "7837" "0" "7837" "0" "c.7837A>T" "r.(?)" "p.(Arg2613*)" "" "0001013213" "00007995" "90" "7487" "0" "7487" "0" "c.7487del" "r.(?)" "p.(Thr2496Asnfs*104)" "" "0001021174" "00007995" "30" "5263" "0" "5263" "0" "c.5263T>G" "r.(?)" "p.(Ser1755Ala)" "" "0001024028" "00007995" "50" "11089" "0" "11089" "0" "c.11089C>T" "r.(?)" "p.(Arg3697Cys)" "" "0001024029" "00007995" "50" "4727" "0" "4727" "0" "c.4727T>A" "r.(?)" "p.(Val1576Glu)" "" "0001024030" "00007995" "90" "3611" "0" "3611" "0" "c.3611del" "r.(?)" "p.(Ser1204Leufs*242)" "" "0001031268" "00007995" "90" "11227" "0" "11227" "0" "c.11227C>T" "r.(?)" "p.(Arg3743*)" "" "0001031269" "00007995" "50" "10086" "0" "10086" "0" "c.10086del" "r.(?)" "p.(His3364Ilefs*27)" "" "0001031270" "00007995" "30" "9439" "0" "9439" "0" "c.9439G>A" "r.(?)" "p.(Gly3147Arg)" "" "0001031271" "00007995" "50" "8964" "0" "8964" "0" "c.8964C>G" "r.(?)" "p.(Ser2988Arg)" "" "0001031272" "00007995" "50" "7686" "0" "7686" "0" "c.7686del" "r.(?)" "p.(Trp2563GlyfsTer37)" "" "0001031273" "00007995" "30" "7634" "0" "7634" "0" "c.7634G>T" "r.(?)" "p.(Gly2545Val)" "" "0001031274" "00007995" "30" "7166" "0" "7166" "0" "c.7166C>A" "r.(?)" "p.(Ala2389Asp)" "" "0001031275" "00007995" "90" "7031" "0" "7031" "0" "c.7031C>G" "r.(?)" "p.(Ser2344*)" "" "0001031276" "00007995" "50" "6343" "0" "6343" "0" "c.6343C>T" "r.(?)" "p.(Gln2115*)" "" "0001031277" "00007995" "90" "4785" "0" "4788" "0" "c.4785_4788del" "r.(?)" "p.(Ser1595Argfs*110)" "" "0001031278" "00007995" "50" "4654" "0" "4654" "0" "c.4654G>T" "r.(?)" "p.(Asp1552Tyr)" "" "0001031279" "00007995" "50" "3972" "0" "3972" "0" "c.3972C>A" "r.(?)" "p.(Asp1324Glu)" "" "0001031280" "00007995" "70" "3424" "0" "3424" "0" "c.3424del" "r.(?)" "p.(Gln1142Lysfs*44)" "" "0001031281" "00007995" "90" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Arg1140Ter)" "" "0001031282" "00007995" "90" "2976" "0" "2977" "0" "c.2976_2977del" "r.(?)" "p.(Arg992Serfs*31)" "" "0001031283" "00007995" "30" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(His65Arg)" "" "0001031284" "00007995" "30" "-27523" "0" "-27523" "0" "c.-27523C>G" "r.(?)" "p.(=)" "" "0001031285" "00007995" "30" "-27543" "0" "-27543" "0" "c.-27543T>A" "r.(?)" "p.(=)" "" "0001045592" "00007995" "90" "94" "0" "94" "0" "c.94G>T" "r.(?)" "p.(Glu32*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000050119" "0000079071" "0000050167" "0000079119" "0000050287" "0000079239" "0000050287" "0000079267" "0000050301" "0000079253" "0000050301" "0000079281" "0000050613" "0000079593" "0000050613" "0000079694" "0000058520" "0000790837" "0000235573" "0000478798" "0000290692" "0000647381" "0000290693" "0000647382" "0000376421" "0000788025" "0000376421" "0000788026" "0000411831" "0000869068" "0000411831" "0000869103" "0000415691" "0000873550" "0000415691" "0000873551" "0000415692" "0000873552" "0000415696" "0000873557" "0000415697" "0000873558" "0000415698" "0000873559" "0000420862" "0000881221" "0000439426" "0000935146" "0000451286" "0000985121"