### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FERMT3) # 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}}" "FERMT3" "fermitin family member 3" "11" "q13.1" "unknown" "LRG_180" "UD_132118491150" "" "https://www.LOVD.nl/FERMT3" "" "1" "23151" "83706" "607901" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FERMT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-15 17:34:47" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00007885" "FERMT3" "transcript variant URP2SF" "002" "NM_031471.5" "" "NP_113659.3" "" "" "" "-149" "2391" "1992" "63974152" "63991363" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "03195" "LAD3" "leukocyte adhesion deficiency, type III" "AR" "612840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-08-15 16:04:53" "06856" "GAMOS2" "Galloway-Mowat syndrome 2, X-linked" "XLR" "301006" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06956" "LAD" "leukocyte adhesion deficiency" "" "" "" "" "" "00006" "2022-08-15 16:05:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FERMT3" "03195" "FERMT3" "06956" ## Individuals ## Do not remove or alter this header ## ## Count = 57 "{{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}}" "00290464" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290465" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00415656" "" "" "" "1" "" "00006" "{PMID:Mory 2008:18779414}, {DOI:Mory 2008:10.1182/blood-2008-06-163162}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Manevich-Mendelson 2009:19617577}, {DOI:Manevich-Mendelson 2009:10.1182/blood-2009-04-218636}" "" "F" "" "Turkey" "" "0" "" "" "" "LAD-A" "00415657" "" "" "" "1" "" "00006" "{PMID:Mory 2008:18779414}, {DOI:Mory 2008:10.1182/blood-2008-06-163162}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Turkey" "" "0" "" "" "" "LAD-K" "00415658" "" "" "" "1" "" "00006" "{PMID:Mory 2008:18779414}, {DOI:Mory 2008:10.1182/blood-2008-06-163162}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Turkey" "" "0" "" "" "" "LAD-N" "00415659" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam1" "00415660" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam2" "00415661" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam3" "00415662" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "family, 2 affected sibs" "M" "" "Turkey" "" "0" "" "" "" "Fam4" "00415663" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Svensson 2009:19234463}, {DOI:Svensson 2009:10.1038/nm.1931}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00415664" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "family, 2 affected sibs" "F" "" "Turkey" "" "0" "" "" "" "Fam6" "00415665" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam5" "00415666" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam8" "00415667" "" "" "" "1" "" "00006" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Manevich-Mendelson 2009:19617577}, {DOI:Manevich-Mendelson 2009:10.1182/blood-2009-04-218636}" "family, 2 affected brothers" "F" "" "" "" "0" "" "" "Arab" "Fam9" "00415668" "" "" "" "1" "" "00006" "{PMID:Svensson 2009:19234463}, {DOI:Svensson 2009:10.1038/nm.1931}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Malta" "" "0" "" "" "" "Fam1" "00415669" "" "" "" "1" "" "00006" "{PMID:Svensson 2009:19234463}, {DOI:Svensson 2009:10.1038/nm.1931}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Turkey" "" "0" "" "" "" "Fam3" "00415670" "" "" "" "1" "" "00006" "{PMID:Malinin:19234460}, {DOI:Malinin:10.1038/nm.1917}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "family, 2 affected sibs (F, M)" "F;M" "" "" "" "0" "" "" "Arab" "" "00415671" "" "" "" "1" "" "00006" "{PMID:McDowall 2010:20357244}, {DOI:McDowall 2010:10.1182/blood-2009-08-238709}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "F" "" "United States" "" "0" "" "" "African American" "" "00415672" "" "" "" "1" "" "00006" "{PMID:Jurk 2010:20216991}, {DOI:Jurk 2010:10.1160/TH09-10-0689}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "family, 2 affected brothers" "M" "" "Germany" "" "0" "" "" "" "FamPatVS/AKS" "00415673" "" "" "" "1" "" "00006" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "(Turkey)" "" "0" "" "" "" "" "00415674" "" "" "" "1" "" "00006" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "(Turkey)" "" "0" "" "" "" "" "00415675" "" "" "" "1" "" "00006" "{PMID:Robert 2011:21441448}, {DOI:Robert 2011:10.4049/jimmunol.1003141}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "France" "" "0" "" "" "gypsy" "" "00415676" "" "" "" "1" "" "00006" "{PMID:Harris 2012:22139635}, {DOI:Harris 2012:10.1002/ajh.22253}" "family, 2 affected sibs (2M)" "M" "" "Mexico" "" "0" "" "" "" "" "00415677" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "vdVijver thesis, patient KSeeger" "" "" "" "" "0" "" "" "" "" "00415678" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "vdVijver thesis, patient CLB" "" "" "Egypt" "" "0" "" "" "" "" "00415679" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "vdVijver thesis, patient CLB" "" "" "Libya" "" "0" "" "" "" "" "00415680" "" "" "" "1" "" "00006" "{PMID:Meller 20212:22564402}, {DOI:Meller 20212:10.1111/j.1538-7836.2012.04768.x}" "" "" "" "Sudan" "" "0" "" "" "" "" "00415681" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "Parvanneh unpubl." "M" "" "Iran" "" "0" "" "" "" "" "00415682" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "M" "" "" "" "0" "" "" "" "" "00415683" "" "" "" "1" "" "00006" "{PMID:Aygun 2017:28043831}, {DOI:Aygun 2017:10.1016/j.pedneo.2016.07.006}" "family, 2 affected sibs (2M)" "F;M" "" "Turkey" "" "0" "" "" "" "" "00415684" "" "" "" "1" "" "00006" "{PMID:Crazzolara 2015:25854317}, {DOI:Crazzolara 2015:10.1002/pbc.25537}" "" "F" "" "" "" "0" "" "" "" "" "00415685" "" "" "" "1" "" "00006" "{PMID:Essa 2020:32092470}, {DOI:Essa 2020:10.1016/j.clim.2020.108365}" "" "M" "" "" "" "0" "" "" "Arab" "Pat1" "00415686" "" "" "" "1" "" "00006" "{PMID:Essa 2020:32092470}, {DOI:Essa 2020:10.1016/j.clim.2020.108365}" "" "F" "" "" "" "0" "" "" "Arab" "Pat2" "00415687" "" "" "" "1" "" "00006" "{PMID:Essa 2020:32092470}, {DOI:Essa 2020:10.1016/j.clim.2020.108365}" "" "F" "" "" "" "0" "" "" "Arab" "Pat3" "00415688" "" "" "" "1" "" "00006" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "Arab" "Pat25" "00415689" "" "" "" "1" "" "00006" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "Arab" "Pat26" "00415690" "" "" "" "1" "" "00006" "{PMID:Stepensky 2015:25072369}, {DOI:Stepensky 2015:10.1097/MPH.0000000000000228}, {PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Pat27" "00415691" "" "" "" "1" "" "00006" "{PMID:Stepensky 2015:25072369}, {DOI:Stepensky 2015:10.1097/MPH.0000000000000228}, {PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Pat28" "00415692" "" "" "" "1" "" "00006" "{PMID:Stepensky 2015:25072369}, {DOI:Stepensky 2015:10.1097/MPH.0000000000000228}, {PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "Arab" "Pat29" "00415693" "" "" "" "1" "" "00006" "{PMID:Shahid 2019:31068971}, {DOI:Shahid 2019:10.3389/fgene.2019.00360}" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00415694" "" "" "" "1" "" "00006" "{PMID:Palagano 2017:28095295}, {DOI:Palagano 2017:10.1016/j.bone.2017.01.012}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00415695" "" "" "" "1" "" "00006" "{PMID:Suratannon 2016:26359933}, {DOI:Suratannon 2016:10.1111/pai.12485}" "" "F" "" "Thailand" "" "0" "" "" "" "" "00415696" "" "" "" "1" "" "00006" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat128" "00415697" "" "" "" "1" "" "00006" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat129" "00415698" "" "" "" "1" "" "00006" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat130" "00415699" "" "" "" "1" "" "00006" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat131" "00415700" "" "" "" "1" "" "00006" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat132" "00415701" "" "" "" "1" "" "00006" "{PMID:Manukjan 2020:31724816}, {DOI:Manukjan 2020:10.1002/pbc.28078}" "" "F" "" "Libya" "" "0" "" "" "" "Pat1" "00415702" "" "" "" "1" "" "00006" "{PMID:Yahya 2021:34485203}, {DOI:Yahya 2021:10.3389/fped.2021.713921}" "" "M" "" "India" "" "0" "" "" "" "" "00415703" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "Köker unpubl." "M" "" "Turkey" "" "0" "" "" "" "" "00415704" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "Köker unpubl." "M" "" "Syria" "" "0" "" "" "" "" "00415705" "" "" "" "1" "" "00006" "{PMID:Qureshi 2020:32793328}, {DOI:Qureshi 2020:10.1016/j.waojou.2020.100133}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat7" "00415706" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "Rawat unpubl." "F" "" "India" "" "0" "" "" "" "" "00415707" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "Kanegane unpubl." "F" "" "Japan" "" "0" "" "" "" "" "00415708" "" "" "" "1" "" "00006" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00415709" "" "" "" "1" "" "00006" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "F" "" "" "" "0" "" "" "Arab" "" "00415710" "" "" "" "1" "" "00006" "{PMID:Takata 2019:31175295}, {DOI:Takata 2019:10.1038/s41467-019-10482-9}" "carrier?" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 57 "{{individualid}}" "{{diseaseid}}" "00290464" "00198" "00290465" "00198" "00415656" "06856" "00415657" "06856" "00415658" "06856" "00415659" "06856" "00415660" "06856" "00415661" "06856" "00415662" "06856" "00415663" "06856" "00415664" "06856" "00415665" "06856" "00415666" "06856" "00415667" "06856" "00415668" "06856" "00415669" "06856" "00415670" "06856" "00415671" "06856" "00415672" "06856" "00415673" "06856" "00415674" "06856" "00415675" "06856" "00415676" "06856" "00415677" "06856" "00415678" "06856" "00415679" "06856" "00415680" "06856" "00415681" "06856" "00415682" "06856" "00415683" "06856" "00415684" "06856" "00415685" "06856" "00415686" "06856" "00415687" "06856" "00415688" "06856" "00415689" "06856" "00415690" "06856" "00415691" "06856" "00415692" "06856" "00415693" "06856" "00415694" "06856" "00415695" "06856" "00415696" "06856" "00415697" "06856" "00415698" "06856" "00415699" "06856" "00415700" "06856" "00415701" "06856" "00415702" "06856" "00415703" "06856" "00415704" "06856" "00415705" "06856" "00415706" "06856" "00415707" "06856" "00415708" "06856" "00415709" "06856" "00415710" "06856" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03195, 06856, 06956 ## Count = 55 "{{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}}" "0000307436" "06856" "00415656" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307437" "06856" "00415657" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307438" "06856" "00415658" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307439" "06856" "00415659" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307440" "06856" "00415660" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307441" "06856" "00415661" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307442" "06856" "00415662" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307443" "06856" "00415663" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307444" "06856" "00415664" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307445" "06856" "00415665" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307446" "06856" "00415666" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307447" "06856" "00415667" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307448" "06856" "00415668" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307449" "06856" "00415669" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307450" "06856" "00415670" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307451" "06856" "00415671" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307452" "06856" "00415672" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307453" "06856" "00415673" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307454" "06856" "00415674" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307455" "06856" "00415675" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307456" "06856" "00415676" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307457" "06856" "00415677" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307458" "06856" "00415678" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307459" "06856" "00415679" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307460" "06856" "00415680" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307461" "06856" "00415681" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307462" "06856" "00415682" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307463" "06856" "00415683" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307464" "06856" "00415684" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307465" "06856" "00415685" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307466" "06856" "00415686" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307467" "06856" "00415687" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307468" "06856" "00415688" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307469" "06856" "00415689" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307470" "06856" "00415690" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307471" "06856" "00415691" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307472" "06856" "00415692" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307473" "06856" "00415693" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307474" "06856" "00415694" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307475" "06856" "00415695" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307476" "06856" "00415696" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307477" "06856" "00415697" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307478" "06856" "00415698" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307479" "06856" "00415699" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307480" "06856" "00415700" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307481" "06856" "00415701" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307482" "06856" "00415702" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307483" "06856" "00415703" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307484" "06856" "00415704" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307485" "06856" "00415705" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307486" "06856" "00415706" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307487" "06856" "00415707" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307488" "06856" "00415708" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307489" "06856" "00415709" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-III" "" "" "0000307490" "06856" "00415710" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 57 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291632" "00290464" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291633" "00290465" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000416937" "00415656" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416938" "00415657" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416939" "00415658" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416940" "00415659" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416941" "00415660" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416942" "00415661" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416943" "00415662" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416944" "00415663" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416945" "00415664" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416946" "00415665" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416947" "00415666" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416948" "00415667" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416949" "00415668" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416950" "00415669" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416951" "00415670" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416952" "00415671" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416953" "00415672" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416954" "00415673" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416955" "00415674" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416956" "00415675" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416957" "00415676" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416958" "00415677" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416959" "00415678" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416960" "00415679" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416961" "00415680" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416962" "00415681" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416963" "00415682" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416964" "00415683" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416965" "00415684" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416966" "00415685" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416967" "00415686" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416968" "00415687" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416969" "00415688" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416970" "00415689" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416971" "00415690" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416972" "00415691" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416973" "00415692" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416974" "00415693" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416975" "00415694" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416976" "00415695" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416977" "00415696" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416978" "00415697" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416979" "00415698" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416980" "00415699" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416981" "00415700" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416982" "00415701" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416983" "00415702" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416984" "00415703" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416985" "00415704" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416986" "00415705" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416987" "00415706" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416988" "00415707" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416989" "00415708" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416990" "00415709" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416991" "00415710" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{geneid}}" "0000416937" "FERMT3" "0000416938" "FERMT3" "0000416939" "FERMT3" "0000416940" "FERMT3" "0000416941" "FERMT3" "0000416942" "FERMT3" "0000416943" "FERMT3" "0000416944" "FERMT3" "0000416945" "FERMT3" "0000416946" "FERMT3" "0000416947" "FERMT3" "0000416948" "FERMT3" "0000416949" "FERMT3" "0000416950" "FERMT3" "0000416951" "FERMT3" "0000416952" "FERMT3" "0000416953" "FERMT3" "0000416954" "FERMT3" "0000416955" "FERMT3" "0000416956" "FERMT3" "0000416957" "FERMT3" "0000416958" "FERMT3" "0000416959" "FERMT3" "0000416960" "FERMT3" "0000416961" "FERMT3" "0000416962" "FERMT3" "0000416963" "FERMT3" "0000416964" "FERMT3" "0000416965" "FERMT3" "0000416966" "FERMT3" "0000416967" "FERMT3" "0000416968" "FERMT3" "0000416969" "FERMT3" "0000416970" "FERMT3" "0000416971" "FERMT3" "0000416972" "FERMT3" "0000416973" "FERMT3" "0000416974" "FERMT3" "0000416975" "FERMT3" "0000416976" "FERMT3" "0000416977" "FERMT3" "0000416978" "FERMT3" "0000416979" "FERMT3" "0000416980" "FERMT3" "0000416981" "FERMT3" "0000416982" "FERMT3" "0000416983" "FERMT3" "0000416984" "FERMT3" "0000416985" "FERMT3" "0000416986" "FERMT3" "0000416987" "FERMT3" "0000416988" "FERMT3" "0000416989" "FERMT3" "0000416990" "FERMT3" "0000416991" "FERMT3" ## 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 = 139 "{{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}}" "0000256172" "0" "50" "11" "63987413" "63987413" "subst" "8.13359E-6" "01943" "FERMT3_000007" "g.63987413A>G" "" "" "" "FERMT3(NM_178443.2):c.1142A>G (p.K381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64219941A>G" "" "VUS" "" "0000280764" "0" "10" "11" "63988102" "63988102" "subst" "0.178646" "02325" "FERMT3_000010" "g.63988102C>T" "" "" "" "FERMT3(NM_178443.3):c.1518C>T (p.L506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64220630C>T" "" "benign" "" "0000280765" "0" "10" "11" "63990505" "63990505" "subst" "0.081417" "02325" "FERMT3_000011" "g.63990505C>G" "" "" "" "FERMT3(NM_178443.3):c.1683-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64223033C>G" "" "benign" "" "0000280766" "0" "30" "11" "63990865" "63990865" "subst" "0.000942568" "02325" "FERMT3_000012" "g.63990865C>T" "" "" "" "FERMT3(NM_178443.2):c.1905C>T (p.I635=), FERMT3(NM_178443.3):c.1905C>T (p.I635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64223393C>T" "" "likely benign" "" "0000280767" "0" "10" "11" "63979162" "63979162" "subst" "0.0816109" "02325" "FERMT3_000004" "g.63979162C>T" "" "" "" "FERMT3(NM_178443.3):c.729C>T (p.A243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64211690C>T" "" "benign" "" "0000280768" "0" "10" "11" "63986713" "63986713" "subst" "0.326997" "02325" "FERMT3_000005" "g.63986713C>A" "" "" "" "FERMT3(NM_178443.3):c.787-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64219241C>A" "" "benign" "" "0000280769" "0" "10" "11" "63986992" "63986992" "subst" "0.0813942" "02325" "FERMT3_000006" "g.63986992C>T" "" "" "" "FERMT3(NM_178443.3):c.895-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64219520C>T" "" "benign" "" "0000283907" "0" "30" "11" "63987913" "63987913" "subst" "0.00194102" "02326" "FERMT3_000009" "g.63987913G>A" "" "" "" "FERMT3(NM_031471.6):c.1317G>A (p.Q439=), FERMT3(NM_178443.2):c.1329G>A (p.Q443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64220441G>A" "" "likely benign" "" "0000283908" "0" "10" "11" "63978072" "63978072" "subst" "0.00184455" "02326" "FERMT3_000001" "g.63978072G>A" "" "" "" "FERMT3(NM_178443.2):c.161-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64210600G>A" "" "benign" "" "0000283909" "0" "50" "11" "63978254" "63978254" "subst" "0.000573992" "02326" "FERMT3_000003" "g.63978254G>A" "" "" "" "FERMT3(NM_031471.5):c.332G>A (p.(Arg111His)), FERMT3(NM_178443.2):c.332G>A (p.R111H), FERMT3(NM_178443.3):c.332G>A (p.R111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64210782G>A" "" "VUS" "" "0000287369" "0" "30" "11" "63987471" "63987471" "subst" "0.000726064" "01943" "FERMT3_000008" "g.63987471G>A" "" "" "" "FERMT3(NM_031471.6):c.1188G>A (p.Q396=), FERMT3(NM_178443.2):c.1200G>A (p.Q400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64219999G>A" "" "likely benign" "" "0000287370" "0" "30" "11" "63987913" "63987913" "subst" "0.00194102" "01943" "FERMT3_000009" "g.63987913G>A" "" "" "" "FERMT3(NM_031471.6):c.1317G>A (p.Q439=), FERMT3(NM_178443.2):c.1329G>A (p.Q443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64220441G>A" "" "likely benign" "" "0000287371" "0" "30" "11" "63990865" "63990865" "subst" "0.000942568" "01943" "FERMT3_000012" "g.63990865C>T" "" "" "" "FERMT3(NM_178443.2):c.1905C>T (p.I635=), FERMT3(NM_178443.3):c.1905C>T (p.I635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64223393C>T" "" "likely benign" "" "0000287372" "0" "50" "11" "63978190" "63978190" "subst" "0.000186919" "01943" "FERMT3_000002" "g.63978190C>T" "" "" "" "FERMT3(NM_031471.6):c.268C>T (p.R90C), FERMT3(NM_178443.2):c.268C>T (p.R90C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64210718C>T" "" "VUS" "" "0000544805" "0" "30" "11" "63974966" "63974966" "subst" "0.00595083" "01804" "FERMT3_000013" "g.63974966G>A" "" "" "" "FERMT3(NM_031471.5):c.130G>A (p.(Gly44Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64207494G>A" "" "likely benign" "" "0000544806" "0" "30" "11" "63974995" "63974995" "subst" "0.00193253" "02326" "FERMT3_000014" "g.63974995C>G" "" "" "" "FERMT3(NM_031471.5):c.159C>G (p.(Ile53Met)), FERMT3(NM_031471.6):c.159C>G (p.I53M), FERMT3(NM_178443.2):c.159C>G (p.I53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64207523C>G" "" "likely benign" "" "0000544807" "0" "30" "11" "63978123" "63978123" "subst" "4.06497E-6" "01943" "FERMT3_000015" "g.63978123A>G" "" "" "" "FERMT3(NM_178443.2):c.201A>G (p.E67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64210651A>G" "" "likely benign" "" "0000544808" "0" "50" "11" "63978254" "63978254" "subst" "0.000573992" "01943" "FERMT3_000003" "g.63978254G>A" "" "" "" "FERMT3(NM_031471.5):c.332G>A (p.(Arg111His)), FERMT3(NM_178443.2):c.332G>A (p.R111H), FERMT3(NM_178443.3):c.332G>A (p.R111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64210782G>A" "" "VUS" "" "0000544809" "0" "30" "11" "63978742" "63978742" "subst" "0.000436449" "01804" "FERMT3_000016" "g.63978742T>A" "" "" "" "FERMT3(NM_031471.5):c.515-5T>A (p.?), FERMT3(NM_031471.6):c.515-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64211270T>A" "" "likely benign" "" "0000544810" "0" "50" "11" "63978840" "63978840" "subst" "0.00027293" "01943" "FERMT3_000017" "g.63978840C>T" "" "" "" "FERMT3(NM_178443.2):c.608C>T (p.P203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64211368C>T" "" "VUS" "" "0000544811" "0" "30" "11" "63986715" "63986715" "subst" "4.25405E-5" "02326" "FERMT3_000018" "g.63986715C>G" "" "" "" "FERMT3(NM_031471.6):c.787-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64219243C>G" "" "likely benign" "" "0000544812" "0" "30" "11" "63987471" "63987471" "subst" "0.000726064" "02326" "FERMT3_000008" "g.63987471G>A" "" "" "" "FERMT3(NM_031471.6):c.1188G>A (p.Q396=), FERMT3(NM_178443.2):c.1200G>A (p.Q400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64219999G>A" "" "likely benign" "" "0000544813" "0" "30" "11" "63990889" "63990889" "subst" "0.00429757" "01943" "FERMT3_000019" "g.63990889G>A" "" "" "" "FERMT3(NM_031471.6):c.1917G>A (p.T639=), FERMT3(NM_178443.2):c.1929G>A (p.T643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64223417G>A" "" "likely benign" "" "0000613504" "0" "50" "11" "63974815" "63974815" "subst" "0" "01943" "FERMT3_000020" "g.63974815C>T" "" "" "" "FERMT3(NM_178443.2):c.-14-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64207343C>T" "" "VUS" "" "0000613505" "0" "50" "11" "63974817" "63974817" "subst" "0" "01943" "FERMT3_000021" "g.63974817C>T" "" "" "" "FERMT3(NM_178443.2):c.-14-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64207345C>T" "" "VUS" "" "0000613506" "0" "30" "11" "63978759" "63978759" "subst" "0.000392672" "01943" "FERMT3_000022" "g.63978759C>T" "" "" "" "FERMT3(NM_031471.6):c.527C>T (p.A176V), FERMT3(NM_178443.2):c.527C>T (p.A176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64211287C>T" "" "likely benign" "" "0000613507" "0" "50" "11" "63987112" "63987112" "subst" "1.22249E-5" "01804" "FERMT3_000025" "g.63987112G>A" "" "" "" "FERMT3(NM_031471.5):c.1011G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64219640G>A" "" "VUS" "" "0000613508" "0" "30" "11" "63990591" "63990591" "subst" "0" "01804" "FERMT3_000026" "g.63990591T>C" "" "" "" "FERMT3(NM_031471.5):c.1742T>C (p.(Val581Ala)), FERMT3(NM_178443.2):c.1754T>C (p.V585A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64223119T>C" "" "likely benign" "" "0000613509" "0" "30" "11" "63994399" "63994399" "subst" "0.000497836" "01804" "NUDT22_000006" "g.63994399G>T" "" "" "" "NUDT22(NM_001128612.2):c.275G>T (p.(Gly92Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64226927G>T" "" "likely benign" "" "0000622662" "0" "50" "11" "63978254" "63978254" "subst" "0.000573992" "02325" "FERMT3_000003" "g.63978254G>A" "" "" "" "FERMT3(NM_031471.5):c.332G>A (p.(Arg111His)), FERMT3(NM_178443.2):c.332G>A (p.R111H), FERMT3(NM_178443.3):c.332G>A (p.R111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64210782G>A" "" "VUS" "" "0000622663" "0" "30" "11" "63978847" "63978847" "subst" "0.000791241" "01943" "FERMT3_000023" "g.63978847C>T" "" "" "" "FERMT3(NM_031471.5):c.615C>T (p.(=)), FERMT3(NM_031471.6):c.615C>T (p.P205=), FERMT3(NM_178443.2):c.615C>T (p.P205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64211375C>T" "" "likely benign" "" "0000622664" "0" "30" "11" "63987039" "63987039" "subst" "5.76782E-5" "02326" "FERMT3_000024" "g.63987039C>T" "" "" "" "FERMT3(NM_031471.6):c.938C>T (p.P313L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64219567C>T" "" "likely benign" "" "0000648321" "1" "10" "11" "63974966" "63974966" "subst" "0.00595083" "03575" "FERMT3_000013" "g.63974966G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149000560}" "Germline" "" "rs149000560" "0" "" "" "g.64207494G>A" "" "benign" "" "0000648322" "1" "30" "11" "63987441" "63987441" "subst" "0.000256828" "03575" "FERMT3_000027" "g.63987441C>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs75295961}" "Germline" "" "rs75295961" "0" "" "" "g.64219969C>G" "" "likely benign" "" "0000656830" "0" "30" "11" "63978847" "63978847" "subst" "0.000791241" "02326" "FERMT3_000023" "g.63978847C>T" "" "" "" "FERMT3(NM_031471.5):c.615C>T (p.(=)), FERMT3(NM_031471.6):c.615C>T (p.P205=), FERMT3(NM_178443.2):c.615C>T (p.P205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64211375C>T" "" "likely benign" "" "0000656831" "0" "30" "11" "63979129" "63979129" "subst" "1.22074E-5" "01943" "FERMT3_000028" "g.63979129G>A" "" "" "" "FERMT3(NM_178443.2):c.696G>A (p.S232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64211657G>A" "" "likely benign" "" "0000656832" "0" "30" "11" "63987031" "63987031" "subst" "0.00371613" "01804" "FERMT3_000029" "g.63987031G>C" "" "" "" "FERMT3(NM_031471.5):c.930G>C (p.(Val310=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64219559G>C" "" "likely benign" "" "0000656833" "0" "30" "11" "63990541" "63990541" "subst" "0.00363729" "01804" "FERMT3_000030" "g.63990541C>T" "" "" "" "FERMT3(NM_031471.5):c.1692C>T (p.(Asp564=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64223069C>T" "" "likely benign" "" "0000679242" "0" "30" "11" "63978847" "63978847" "subst" "0.000791241" "01804" "FERMT3_000023" "g.63978847C>T" "" "" "" "FERMT3(NM_031471.5):c.615C>T (p.(=)), FERMT3(NM_031471.6):c.615C>T (p.P205=), FERMT3(NM_178443.2):c.615C>T (p.P205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679243" "0" "30" "11" "63978933" "63978933" "subst" "0" "02326" "FERMT3_000031" "g.63978933G>A" "" "" "" "FERMT3(NM_031471.6):c.683+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679244" "0" "50" "11" "63990657" "63990657" "subst" "5.28838E-5" "01943" "FERMT3_000032" "g.63990657G>A" "" "" "" "FERMT3(NM_178443.2):c.1820G>A (p.R607Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679245" "0" "50" "11" "63993289" "63993289" "del" "0" "01804" "TRPT1_000007" "g.63993289del" "" "" "" "TRPT1(NM_001033678.3):c.47del (p.(Gly16Valfs*29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000723546" "0" "50" "11" "63987448" "63987448" "subst" "3.2668E-5" "02325" "FERMT3_000033" "g.63987448G>A" "" "" "" "FERMT3(NM_031471.6):c.1165G>A (p.E389K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805240" "0" "30" "11" "63987244" "63987244" "subst" "0" "01804" "FERMT3_000034" "g.63987244C>A" "" "" "" "FERMT3(NM_031471.5):c.1062C>A (p.(Asp354Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805241" "0" "30" "11" "63987363" "63987363" "subst" "4.06395E-6" "01943" "FERMT3_000035" "g.63987363G>A" "" "" "" "FERMT3(NM_178443.2):c.1092G>A (p.R364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853068" "0" "30" "11" "63987022" "63987022" "subst" "0.000338728" "01943" "FERMT3_000036" "g.63987022C>T" "" "" "" "FERMT3(NM_178443.2):c.921C>T (p.S307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853069" "0" "30" "11" "63988526" "63988526" "subst" "6.52576E-5" "01943" "FERMT3_000039" "g.63988526C>T" "" "" "" "FERMT3(NM_178443.2):c.1596C>T (p.A532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862615" "0" "50" "11" "63974995" "63974995" "subst" "0.00193253" "01943" "FERMT3_000014" "g.63974995C>G" "" "" "" "FERMT3(NM_031471.5):c.159C>G (p.(Ile53Met)), FERMT3(NM_031471.6):c.159C>G (p.I53M), FERMT3(NM_178443.2):c.159C>G (p.I53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862616" "0" "30" "11" "63987916" "63987916" "subst" "0.0029508" "02326" "FERMT3_000037" "g.63987916G>A" "" "" "" "FERMT3(NM_031471.6):c.1320G>A (p.Q440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862617" "0" "30" "11" "63987989" "63987989" "subst" "0.00333313" "01804" "FERMT3_000038" "g.63987989G>A" "" "" "" "FERMT3(NM_031471.5):c.1393G>A (p.(Glu465Lys)), FERMT3(NM_031471.6):c.1393G>A (p.E465K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862618" "0" "50" "11" "63990591" "63990591" "subst" "0" "01943" "FERMT3_000026" "g.63990591T>C" "" "" "" "FERMT3(NM_031471.5):c.1742T>C (p.(Val581Ala)), FERMT3(NM_178443.2):c.1754T>C (p.V585A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000876426" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Mory 2008:18779414}, {DOI:Mory 2008:10.1182/blood-2008-06-163162}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Manevich-Mendelson 2009:19617577}, {DOI:Manevich-Mendelson 2009:10.1182/blood-2009-04-218636}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876427" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Mory 2008:18779414}, {DOI:Mory 2008:10.1182/blood-2008-06-163162}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876428" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Mory 2008:18779414}, {DOI:Mory 2008:10.1182/blood-2008-06-163162}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876429" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876430" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876431" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876432" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876433" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Svensson 2009:19234463}, {DOI:Svensson 2009:10.1038/nm.1931}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876434" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876435" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876436" "3" "90" "11" "63990566" "63990566" "subst" "0" "00006" "FERMT3_000064" "g.63990566C>T" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1729C>T" "" "Germline" "" "" "0" "" "" "g.64223094C>T" "" "pathogenic (recessive)" "" "0000876437" "3" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000046" "g.63979120G>A" "" "{PMID:Kuipers 2009:19064721}, {DOI:Kuipers 2009:10.1182/blood-2008-10-182154}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Manevich-Mendelson 2009:19617577}, {DOI:Manevich-Mendelson 2009:10.1182/blood-2009-04-218636}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>A" "" "pathogenic (recessive)" "" "0000876438" "3" "90" "11" "63990518" "63990518" "subst" "0" "00006" "FERMT3_000063" "g.63990518A>G" "" "{PMID:Svensson 2009:19234463}, {DOI:Svensson 2009:10.1038/nm.1931}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1683-2A>G" "" "Germline" "" "" "0" "" "" "g.64223046A>G" "" "pathogenic (recessive)" "" "0000876439" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Svensson 2009:19234463}, {DOI:Svensson 2009:10.1038/nm.1931}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876440" "3" "90" "11" "63974884" "63974884" "subst" "0" "00006" "FERMT3_000040" "g.63974884G>A" "" "{PMID:Malinin:19234460}, {DOI:Malinin:10.1038/nm.1917}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.64207412G>A" "" "pathogenic (recessive)" "" "0000876441" "1" "90" "11" "63987023" "63987023" "subst" "3.33247E-5" "00006" "FERMT3_000054" "g.63987023G>A" "" "{PMID:McDowall 2010:20357244}, {DOI:McDowall 2010:10.1182/blood-2009-08-238709}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.64219551G>A" "" "pathogenic (recessive)" "" "0000876442" "3" "90" "11" "63990566" "63990566" "subst" "0" "00006" "FERMT3_000064" "g.63990566C>T" "" "{PMID:Jurk 2010:20216991}, {DOI:Jurk 2010:10.1160/TH09-10-0689}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1729C>T" "" "Germline" "" "" "0" "" "" "g.64223094C>T" "" "pathogenic (recessive)" "" "0000876443" "3" "90" "11" "63978160" "63978166" "dup" "0" "00006" "FERMT3_000043" "g.63978160_63978166dup" "" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.64210688_64210694dup" "" "pathogenic (recessive)" "" "0000876444" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876445" "3" "90" "11" "63978081" "63978081" "subst" "0" "00006" "FERMT3_000042" "g.63978081A>C" "" "{PMID:Robert 2011:21441448}, {DOI:Robert 2011:10.4049/jimmunol.1003141}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.64210609A>C" "" "pathogenic (recessive)" "" "0000876446" "3" "90" "11" "63988022" "63988022" "subst" "0" "00006" "FERMT3_000060" "g.63988022C>T" "" "{PMID:Harris 2012:22139635}, {DOI:Harris 2012:10.1002/ajh.22253}" "" "NM_178443.2:c.1438C>T" "" "Germline" "" "" "0" "" "" "g.64220550C>T" "" "pathogenic (recessive)" "" "0000876447" "1" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000046" "g.63979120G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>A" "" "pathogenic (recessive)" "" "0000876448" "3" "90" "11" "63979189" "63979189" "subst" "0" "00006" "FERMT3_000048" "g.63979189G>C" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.64211717G>C" "" "pathogenic (recessive)" "" "0000876449" "3" "90" "11" "63987456" "63987456" "del" "0" "00006" "FERMT3_000069" "g.63987456del" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "1173delT" "" "Germline" "" "" "0" "" "" "g.64219984del" "" "pathogenic (recessive)" "" "0000876450" "3" "90" "11" "63987907" "63987907" "subst" "0" "00006" "FERMT3_000058" "g.63987907G>A" "" "{PMID:Meller 20212:22564402}, {DOI:Meller 20212:10.1111/j.1538-7836.2012.04768.x}" "" "NM_178443.2:c.1324-1G>A" "" "Germline" "" "" "0" "" "" "g.64220435G>A" "" "pathogenic (recessive)" "" "0000876451" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876452" "3" "90" "11" "63990570" "63990570" "subst" "0" "00006" "FERMT3_000065" "g.63990570T>C" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "NM_178443.2:c.1733T>C" "" "Germline" "" "" "0" "" "" "g.64223098T>C" "" "pathogenic (recessive)" "" "0000876453" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Aygun 2017:28043831}, {DOI:Aygun 2017:10.1016/j.pedneo.2016.07.006}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876454" "3" "90" "11" "63988139" "63988139" "subst" "0" "00006" "FERMT3_000062" "g.63988139C>T" "" "{PMID:Crazzolara 2015:25854317}, {DOI:Crazzolara 2015:10.1002/pbc.25537}" "" "NM_178443.2:c.1597C>T" "" "Germline" "" "" "0" "" "" "g.64220667C>T" "" "pathogenic (recessive)" "" "0000876455" "3" "90" "11" "63988139" "63988139" "subst" "0" "00006" "FERMT3_000062" "g.63988139C>T" "" "{PMID:Essa 2020:32092470}, {DOI:Essa 2020:10.1016/j.clim.2020.108365}" "" "NM_178443.2:c.1555C>T" "" "Germline" "" "" "0" "" "" "g.64220667C>T" "" "pathogenic (recessive)" "" "0000876456" "3" "90" "11" "63988139" "63988139" "subst" "0" "00006" "FERMT3_000062" "g.63988139C>T" "" "{PMID:Essa 2020:32092470}, {DOI:Essa 2020:10.1016/j.clim.2020.108365}" "" "NM_178443.2:c.1555C>T" "" "Germline" "" "" "0" "" "" "g.64220667C>T" "" "pathogenic (recessive)" "" "0000876457" "3" "90" "11" "63988139" "63988139" "subst" "0" "00006" "FERMT3_000062" "g.63988139C>T" "" "{PMID:Essa 2020:32092470}, {DOI:Essa 2020:10.1016/j.clim.2020.108365}" "" "NM_178443.2:c.1555C>T" "" "Germline" "" "" "0" "" "" "g.64220667C>T" "" "pathogenic (recessive)" "" "0000876458" "3" "90" "11" "63987251" "63987251" "subst" "4.06128E-6" "00006" "FERMT3_000055" "g.63987251C>T" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.64219779C>T" "" "pathogenic (recessive)" "" "0000876459" "3" "90" "11" "63987251" "63987251" "subst" "4.06128E-6" "00006" "FERMT3_000055" "g.63987251C>T" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.64219779C>T" "" "pathogenic (recessive)" "" "0000876460" "3" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000046" "g.63979120G>A" "" "{PMID:Stepensky 2015:25072369}, {DOI:Stepensky 2015:10.1097/MPH.0000000000000228}, {PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>A" "" "pathogenic (recessive)" "" "0000876461" "3" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000046" "g.63979120G>A" "" "{PMID:Stepensky 2015:25072369}, {DOI:Stepensky 2015:10.1097/MPH.0000000000000228}, {PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>A" "" "pathogenic (recessive)" "" "0000876462" "3" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000046" "g.63979120G>A" "" "{PMID:Stepensky 2015:25072369}, {DOI:Stepensky 2015:10.1097/MPH.0000000000000228}, {PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>A" "" "pathogenic (recessive)" "" "0000876463" "3" "90" "11" "63978208" "63978208" "subst" "0" "00006" "FERMT3_000044" "g.63978208C>T" "" "{PMID:Shahid 2019:31068971}, {DOI:Shahid 2019:10.3389/fgene.2019.00360}" "" "" "" "Germline" "" "" "0" "" "" "g.64210736C>T" "" "pathogenic (recessive)" "" "0000876464" "3" "90" "11" "63990639" "63990639" "del" "0" "00006" "FERMT3_000068" "g.63990639del" "" "{PMID:Palagano 2017:28095295}, {DOI:Palagano 2017:10.1016/j.bone.2017.01.012}" "" "NM_178443.2:c.1802delA" "" "Germline" "" "" "0" "" "" "g.64223167del" "" "pathogenic (recessive)" "" "0000876465" "3" "90" "11" "63990633" "63990633" "subst" "0" "00006" "FERMT3_000066" "g.63990633A>C" "" "{PMID:Suratannon 2016:26359933}, {DOI:Suratannon 2016:10.1111/pai.12485}" "" "NM_178443.2:c.1796A>C" "" "Germline" "" "" "0" "" "" "g.64223161A>C" "" "pathogenic (recessive)" "" "0000876466" "3" "90" "11" "63978227" "63978227" "subst" "0" "00006" "FERMT3_000045" "g.63978227T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.64210755T>C" "" "pathogenic (recessive)" "" "0000876467" "3" "90" "11" "63987927" "63987927" "subst" "0" "00006" "FERMT3_000059" "g.63987927G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "NM_178443.2:c.1343G>A" "" "Germline" "" "" "0" "" "" "g.64220455G>A" "" "pathogenic (recessive)" "" "0000876468" "3" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000047" "g.63979120G>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>T" "" "pathogenic (recessive)" "" "0000876469" "3" "90" "11" "63979120" "63979120" "subst" "0" "00006" "FERMT3_000047" "g.63979120G>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.64211648G>T" "" "pathogenic (recessive)" "" "0000876470" "3" "90" "11" "63986757" "63986757" "subst" "0" "00006" "FERMT3_000049" "g.63986757A>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.64219285A>G" "" "pathogenic (recessive)" "" "0000876471" "3" "90" "11" "63987456" "63987456" "del" "0" "00006" "FERMT3_000069" "g.63987456del" "" "{PMID:Manukjan 2020:31724816}, {DOI:Manukjan 2020:10.1002/pbc.28078}" "" "NM_178443.2:c.1185delT" "" "Germline" "" "" "0" "" "" "g.64219984del" "" "pathogenic (recessive)" "" "0000876472" "21" "90" "11" "63990637" "63990637" "subst" "0" "00006" "FERMT3_000067" "g.63990637G>A" "" "{PMID:Yahya 2021:34485203}, {DOI:Yahya 2021:10.3389/fped.2021.713921}" "" "NM_178443.2:c.1800G>A" "" "Germline" "" "" "0" "" "" "g.64223165G>A" "" "pathogenic (recessive)" "" "0000876473" "3" "90" "11" "63987022" "63987022" "del" "0" "00006" "FERMT3_000053" "g.63987022del" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.921delC" "" "Germline" "" "" "0" "" "" "g.64219550del" "" "pathogenic (recessive)" "" "0000876474" "3" "90" "11" "63988121" "63988121" "subst" "0" "00006" "FERMT3_000061" "g.63988121C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "NM_178443.2:c.1537C>T" "" "Germline" "" "" "0" "" "" "g.64220649C>T" "" "pathogenic (recessive)" "" "0000876475" "3" "90" "11" "63974962" "63974962" "del" "0" "00006" "FERMT3_000041" "g.63974962del" "" "{PMID:Qureshi 2020:32793328}, {DOI:Qureshi 2020:10.1016/j.waojou.2020.100133}" "" "c.126delC" "" "Germline" "" "" "0" "" "" "g.64207490del" "" "pathogenic (recessive)" "" "0000876476" "3" "90" "11" "63986993" "63986993" "subst" "0" "00006" "FERMT3_000052" "g.63986993T>G" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.64219521T>G" "" "pathogenic (recessive)" "" "0000876477" "3" "90" "11" "63986766" "63986766" "subst" "0" "00006" "FERMT3_000050" "g.63986766G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.64219294G>A" "" "pathogenic (recessive)" "" "0000876478" "3" "90" "11" "63974962" "63974962" "del" "0" "00006" "FERMT3_000041" "g.63974962del" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "c.126delC" "" "Germline" "" "" "0" "" "" "g.64207490del" "" "pathogenic (recessive)" "" "0000876479" "3" "90" "11" "63974884" "63974884" "subst" "0" "00006" "FERMT3_000040" "g.63974884G>A" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "" "" "Germline" "" "" "0" "" "" "g.64207412G>A" "" "pathogenic (recessive)" "" "0000876480" "1" "90" "11" "63986809" "63986809" "subst" "0" "00006" "FERMT3_000051" "g.63986809G>A" "" "{PMID:Takata 2019:31175295}, {DOI:Takata 2019:10.1038/s41467-019-10482-9}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.64219337G>A" "" "pathogenic (recessive)" "" "0000876501" "2" "90" "11" "63987762" "63987762" "del" "0" "00006" "FERMT3_000057" "g.63987762del" "" "{PMID:McDowall 2010:20357244}, {DOI:McDowall 2010:10.1182/blood-2009-08-238709}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "NM_178443.2:c.1287delT" "" "Germline" "" "" "0" "" "" "g.64220290del" "" "pathogenic (recessive)" "" "0000876502" "2" "90" "11" "63990566" "63990566" "subst" "0" "00006" "FERMT3_000064" "g.63990566C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "NM_178443.2:c.1729C>T" "" "Germline" "" "" "0" "" "" "g.64223094C>T" "" "pathogenic (recessive)" "" "0000879677" "0" "10" "11" "63974955" "63974955" "subst" "2.85063E-5" "04389" "FERMT3_000056" "g.63974955C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64207483C>T" "" "benign" "" "0000879678" "0" "10" "11" "63974966" "63974966" "subst" "0.00595083" "04389" "FERMT3_000013" "g.63974966G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64207494G>A" "" "benign" "" "0000879679" "0" "10" "11" "63978171" "63978171" "subst" "0.000503987" "04389" "FERMT3_000071" "g.63978171C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64210699C>T" "" "benign" "" "0000879680" "0" "10" "11" "63978534" "63978534" "subst" "0.00913645" "04389" "FERMT3_000072" "g.63978534C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64211062C>T" "" "benign" "" "0000879681" "0" "10" "11" "63978759" "63978759" "subst" "0.000392672" "04389" "FERMT3_000022" "g.63978759C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64211287C>T" "" "benign" "" "0000879682" "0" "10" "11" "63979112" "63979112" "subst" "0.000897886" "04389" "FERMT3_000073" "g.63979112C>G" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64211640C>G" "" "benign" "" "0000879683" "0" "10" "11" "63979162" "63979162" "subst" "0.0816109" "04389" "FERMT3_000004" "g.63979162C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64211690C>T" "" "benign" "" "0000879684" "0" "10" "11" "63979169" "63979169" "subst" "0.000471188" "04389" "FERMT3_000074" "g.63979169G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64211697G>A" "" "benign" "" "0000879685" "0" "10" "11" "63986992" "63986992" "subst" "0.0813942" "04389" "FERMT3_000006" "g.63986992C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64219520C>T" "" "benign" "" "0000879686" "0" "10" "11" "63987031" "63987031" "subst" "0.00371613" "04389" "FERMT3_000029" "g.63987031G>C" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64219559G>C" "" "benign" "" "0000879687" "0" "10" "11" "63987928" "63987928" "subst" "0" "04389" "FERMT3_000075" "g.63987928G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.64220456G>A" "" "benign" "" "0000879688" "0" "10" "11" "63987989" "63987989" "subst" "0.00333313" "04389" "FERMT3_000038" "g.63987989G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "NM_178443.2:c.1405G>A (Glu469Lys)" "" "SUMMARY record" "" "" "0" "" "" "g.64220517G>A" "" "benign" "" "0000879689" "11" "90" "11" "63990961" "63990961" "del" "0" "00006" "FERMT3_000070" "g.63990961del" "" "{PMID:Yahya 2021:34485203}, {DOI:Yahya 2021:10.3389/fped.2021.713921}" "" "NM_178443.2:c.2001delC" "" "Germline" "" "" "0" "" "" "g.64223489del" "" "pathogenic (recessive)" "" "0000890027" "0" "30" "11" "63974995" "63974995" "subst" "0.00193253" "01804" "FERMT3_000014" "g.63974995C>G" "" "" "" "FERMT3(NM_031471.5):c.159C>G (p.(Ile53Met)), FERMT3(NM_031471.6):c.159C>G (p.I53M), FERMT3(NM_178443.2):c.159C>G (p.I53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890028" "0" "30" "11" "63978190" "63978190" "subst" "0.000186919" "02326" "FERMT3_000002" "g.63978190C>T" "" "" "" "FERMT3(NM_031471.6):c.268C>T (p.R90C), FERMT3(NM_178443.2):c.268C>T (p.R90C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890029" "0" "50" "11" "63978254" "63978254" "subst" "0.000573992" "01804" "FERMT3_000003" "g.63978254G>A" "" "" "" "FERMT3(NM_031471.5):c.332G>A (p.(Arg111His)), FERMT3(NM_178443.2):c.332G>A (p.R111H), FERMT3(NM_178443.3):c.332G>A (p.R111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890030" "0" "30" "11" "63978727" "63978727" "subst" "0" "02326" "FERMT3_000076" "g.63978727A>T" "" "" "" "FERMT3(NM_031471.6):c.515-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890031" "0" "30" "11" "63978742" "63978742" "subst" "0.000436449" "02326" "FERMT3_000016" "g.63978742T>A" "" "" "" "FERMT3(NM_031471.5):c.515-5T>A (p.?), FERMT3(NM_031471.6):c.515-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890032" "0" "30" "11" "63987200" "63987200" "subst" "0.00190885" "02326" "FERMT3_000077" "g.63987200G>C" "" "" "" "FERMT3(NM_031471.6):c.1030-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890033" "0" "30" "11" "63987269" "63987269" "subst" "8.12394E-6" "01804" "FERMT3_000078" "g.63987269G>T" "" "" "" "FERMT3(NM_031471.5):c.1079+8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890034" "0" "90" "11" "63990832" "63990833" "dup" "0" "02326" "FERMT3_000079" "g.63990832_63990833dup" "" "" "" "FERMT3(NM_031471.6):c.1860_1861dupGT (p.S621Cfs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890035" "0" "30" "11" "63990889" "63990889" "subst" "0.00429757" "02326" "FERMT3_000019" "g.63990889G>A" "" "" "" "FERMT3(NM_031471.6):c.1917G>A (p.T639=), FERMT3(NM_178443.2):c.1929G>A (p.T643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913640" "0" "30" "11" "63978585" "63978587" "del" "0" "01804" "FERMT3_000080" "g.63978585_63978587del" "" "" "" "FERMT3(NM_031471.5):c.446_448del (p.(Lys153del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929936" "0" "30" "11" "63978759" "63978759" "subst" "0.000392672" "02326" "FERMT3_000022" "g.63978759C>T" "" "" "" "FERMT3(NM_031471.6):c.527C>T (p.A176V), FERMT3(NM_178443.2):c.527C>T (p.A176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929937" "0" "30" "11" "63979112" "63979112" "subst" "0.000897886" "02326" "FERMT3_000073" "g.63979112C>G" "" "" "" "FERMT3(NM_031471.6):c.684-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949737" "0" "30" "11" "63978800" "63978800" "subst" "7.01095E-5" "02326" "FERMT3_000081" "g.63978800C>G" "" "" "" "FERMT3(NM_031471.6):c.568C>G (p.Q190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949738" "0" "50" "11" "63987487" "63987487" "subst" "0" "01804" "FERMT3_000082" "g.63987487G>A" "" "" "" "FERMT3(NM_031471.5):c.1204G>A (p.(Gly402Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979705" "0" "10" "11" "63987989" "63987989" "subst" "0.00333313" "02326" "FERMT3_000038" "g.63987989G>A" "" "" "" "FERMT3(NM_031471.5):c.1393G>A (p.(Glu465Lys)), FERMT3(NM_031471.6):c.1393G>A (p.E465K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999212" "0" "30" "11" "63987902" "63987902" "subst" "7.48659E-5" "01804" "FERMT3_000083" "g.63987902G>A" "" "" "" "FERMT3(NM_031471.5):c.1312-6G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038566" "0" "30" "11" "63974817" "63974818" "del" "0" "01804" "FERMT3_000084" "g.63974817_63974818del" "" "" "" "FERMT3(NM_031471.6):c.-14-6_-14-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038567" "0" "30" "11" "63978739" "63978739" "subst" "0" "01804" "FERMT3_000085" "g.63978739C>A" "" "" "" "FERMT3(NM_031471.6):c.515-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FERMT3 ## Count = 139 "{{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}}" "0000256172" "00007885" "50" "1130" "0" "1130" "0" "c.1130A>G" "r.(?)" "p.(Lys377Arg)" "" "0000280764" "00007885" "10" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Leu502=)" "" "0000280765" "00007885" "10" "1671" "-15" "1671" "-15" "c.1671-15C>G" "r.(=)" "p.(=)" "" "0000280766" "00007885" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Ile631=)" "" "0000280767" "00007885" "10" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Ala243=)" "" "0000280768" "00007885" "10" "787" "-10" "787" "-10" "c.787-10C>A" "r.(=)" "p.(=)" "" "0000280769" "00007885" "10" "895" "-4" "895" "-4" "c.895-4C>T" "r.spl?" "p.?" "" "0000283907" "00007885" "30" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Gln439=)" "" "0000283908" "00007885" "10" "161" "-11" "161" "-11" "c.161-11G>A" "r.(=)" "p.(=)" "" "0000283909" "00007885" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111His)" "" "0000287369" "00007885" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Gln396=)" "" "0000287370" "00007885" "30" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Gln439=)" "" "0000287371" "00007885" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Ile631=)" "" "0000287372" "00007885" "50" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Cys)" "" "0000544805" "00007885" "30" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Gly44Arg)" "" "0000544806" "00007885" "30" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Ile53Met)" "" "0000544807" "00007885" "30" "201" "0" "201" "0" "c.201A>G" "r.(?)" "p.(Glu67=)" "" "0000544808" "00007885" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111His)" "" "0000544809" "00007885" "30" "515" "-5" "515" "-5" "c.515-5T>A" "r.spl?" "p.?" "" "0000544810" "00007885" "50" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Pro203Leu)" "" "0000544811" "00007885" "30" "787" "-8" "787" "-8" "c.787-8C>G" "r.(=)" "p.(=)" "" "0000544812" "00007885" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Gln396=)" "" "0000544813" "00007885" "30" "1917" "0" "1917" "0" "c.1917G>A" "r.(?)" "p.(Thr639=)" "" "0000613504" "00007885" "50" "-14" "-8" "-14" "-8" "c.-14-8C>T" "r.(=)" "p.(=)" "" "0000613505" "00007885" "50" "-14" "-6" "-14" "-6" "c.-14-6C>T" "r.(=)" "p.(=)" "" "0000613506" "00007885" "30" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "" "0000613507" "00007885" "50" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Ser337=)" "" "0000613508" "00007885" "30" "1742" "0" "1742" "0" "c.1742T>C" "r.(?)" "p.(Val581Ala)" "" "0000613509" "00007885" "30" "5427" "0" "5427" "0" "c.*3435G>T" "r.(=)" "p.(=)" "" "0000622662" "00007885" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111His)" "" "0000622663" "00007885" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Pro205=)" "" "0000622664" "00007885" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "" "0000648321" "00007885" "10" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Gly44Arg)" "" "0000648322" "00007885" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Ser386Arg)" "" "0000656830" "00007885" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Pro205=)" "" "0000656831" "00007885" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Ser232=)" "" "0000656832" "00007885" "30" "930" "0" "930" "0" "c.930G>C" "r.(?)" "p.(Val310=)" "" "0000656833" "00007885" "30" "1692" "0" "1692" "0" "c.1692C>T" "r.(?)" "p.(Asp564=)" "" "0000679242" "00007885" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Pro205=)" "" "0000679243" "00007885" "30" "683" "18" "683" "18" "c.683+18G>A" "r.(=)" "p.(=)" "" "0000679244" "00007885" "50" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603Gln)" "" "0000679245" "00007885" "50" "4317" "0" "4317" "0" "c.*2325del" "r.(?)" "p.(=)" "" "0000723546" "00007885" "50" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Glu389Lys)" "" "0000805240" "00007885" "30" "1062" "0" "1062" "0" "c.1062C>A" "r.(?)" "p.(Asp354Glu)" "" "0000805241" "00007885" "30" "1080" "0" "1080" "0" "c.1080G>A" "r.(?)" "p.(Arg360=)" "" "0000853068" "00007885" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Ser307=)" "" "0000853069" "00007885" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Ala528=)" "" "0000862615" "00007885" "50" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Ile53Met)" "" "0000862616" "00007885" "30" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Gln440=)" "" "0000862617" "00007885" "30" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Glu465Lys)" "" "0000862618" "00007885" "50" "1742" "0" "1742" "0" "c.1742T>C" "r.(?)" "p.(Val581Ala)" "" "0000876426" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876427" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876428" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876429" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876430" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876431" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876432" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876433" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876434" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876435" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876436" "00007885" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573Ter)" "" "0000876437" "00007885" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229Ter)" "" "0000876438" "00007885" "90" "1671" "-2" "1671" "-2" "c.1671-2A>G" "r.spl" "p.?" "" "0000876439" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876440" "00007885" "90" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(Trp16Ter)" "" "0000876441" "00007885" "90" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Arg)" "" "0000876442" "00007885" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573Ter)" "" "0000876443" "00007885" "90" "238" "0" "244" "0" "c.238_244dup" "r.(?)" "p.(Lys82ThrfsTer67)" "" "0000876444" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876445" "00007885" "90" "161" "-2" "161" "-2" "c.161-2A>C" "r.spl" "p.?" "" "0000876446" "00007885" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Gln476Ter)" "" "0000876447" "00007885" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229Ter)" "" "0000876448" "00007885" "90" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Lys252Asn)" "" "0000876449" "00007885" "90" "1173" "0" "1173" "0" "c.1173del" "r.(?)" "p.(Asp393Thrfs*29)" "" "0000876450" "00007885" "90" "1312" "-1" "1312" "-1" "c.1312-1G>A" "r.(?)" "p.?" "" "0000876451" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876452" "00007885" "90" "1721" "0" "1721" "0" "c.1721T>C" "r.(?)" "p.(Leu574Pro)" "" "0000876453" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876454" "00007885" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Gln529Ter)" "" "0000876455" "00007885" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Gln515Ter)" "" "0000876456" "00007885" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Gln515Ter)" "" "0000876457" "00007885" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Gln515Ter)" "" "0000876458" "00007885" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357Ter)" "" "0000876459" "00007885" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357Ter)" "" "0000876460" "00007885" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229Ter)" "" "0000876461" "00007885" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229Ter)" "" "0000876462" "00007885" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229Ter)" "" "0000876463" "00007885" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96Ter)" "" "0000876464" "00007885" "90" "1790" "0" "1790" "0" "c.1790del" "r.(?)" "p.(Asn597MetfsTer173)" "" "0000876465" "00007885" "90" "1784" "0" "1784" "0" "c.1784A>C" "r.(?)" "p.(Gln595Pro)" "" "0000876466" "00007885" "90" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Leu102Pro)" "" "0000876467" "00007885" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Trp444Ter)" "" "0000876468" "00007885" "90" "687" "0" "687" "0" "c.687G>T" "r.(?)" "p.(Trp229Cys)" "" "0000876469" "00007885" "90" "687" "0" "687" "0" "c.687G>T" "r.(?)" "p.(Trp229Cys)" "" "0000876470" "00007885" "90" "821" "0" "821" "0" "c.821A>G" "r.(?)" "p.(Gln274Arg)" "" "0000876471" "00007885" "90" "1173" "0" "1173" "0" "c.1173del" "r.(?)" "p.(Asp393Thrfs*29)" "" "0000876472" "00007885" "90" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Trp596Ter)" "" "0000876473" "00007885" "90" "921" "0" "921" "0" "c.921del" "r.(?)" "p.(Ser307ArgfsTer21)" "" "0000876474" "00007885" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000876475" "00007885" "90" "126" "0" "126" "0" "c.126del" "r.(?)" "p.(Ile42MetfsTer6)" "" "0000876476" "00007885" "90" "895" "-3" "895" "-3" "c.895-3T>G" "r.spl" "p.?" "" "0000876477" "00007885" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Trp277Ter)" "" "0000876478" "00007885" "90" "126" "0" "126" "0" "c.126del" "r.(?)" "p.(Ile42MetfsTer6)" "" "0000876479" "00007885" "90" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(Trp16Ter)" "" "0000876480" "00007885" "90" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Met291Ile)" "" "0000876501" "00007885" "90" "1275" "0" "1275" "0" "c.1275del" "r.(?)" "p.(Glu426ArgfsTer3)" "" "0000876502" "00007885" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573Ter)" "" "0000879677" "00007885" "10" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ser40Leu)" "" "0000879678" "00007885" "10" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Gly44Arg)" "" "0000879679" "00007885" "10" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Tyr83=)" "" "0000879680" "00007885" "10" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(His135=)" "" "0000879681" "00007885" "10" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "" "0000879682" "00007885" "10" "684" "-5" "684" "-5" "c.684-5C>G" "r.(?)" "p.(=)" "" "0000879683" "00007885" "10" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Ala243=)" "" "0000879684" "00007885" "10" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Ala246Thr)" "" "0000879685" "00007885" "10" "895" "-4" "895" "-4" "c.895-4C>T" "r.(?)" "p.(=)" "" "0000879686" "00007885" "10" "930" "0" "930" "0" "c.930G>C" "r.(?)" "p.(Val310=)" "" "0000879687" "00007885" "10" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Trp444Ter)" "" "0000879688" "00007885" "10" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Glu465Lys)" "" "0000879689" "00007885" "90" "1989" "0" "1989" "0" "c.1989del" "r.(?)" "p.(*664Gluext*105)" "" "0000890027" "00007885" "30" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Ile53Met)" "" "0000890028" "00007885" "30" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Cys)" "" "0000890029" "00007885" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111His)" "" "0000890030" "00007885" "30" "515" "-20" "515" "-20" "c.515-20A>T" "r.(=)" "p.(=)" "" "0000890031" "00007885" "30" "515" "-5" "515" "-5" "c.515-5T>A" "r.spl?" "p.?" "" "0000890032" "00007885" "30" "1030" "-12" "1030" "-12" "c.1030-12G>C" "r.(=)" "p.(=)" "" "0000890033" "00007885" "30" "1079" "8" "1079" "8" "c.1079+8G>T" "r.(=)" "p.(=)" "" "0000890034" "00007885" "90" "1860" "0" "1861" "0" "c.1860_1861dup" "r.(?)" "p.(Ser621Cysfs*150)" "" "0000890035" "00007885" "30" "1917" "0" "1917" "0" "c.1917G>A" "r.(?)" "p.(Thr639=)" "" "0000913640" "00007885" "30" "456" "0" "458" "0" "c.456_458del" "r.(?)" "p.(Lys153del)" "" "0000929936" "00007885" "30" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "" "0000929937" "00007885" "30" "684" "-5" "684" "-5" "c.684-5C>G" "r.spl?" "p.?" "" "0000949737" "00007885" "30" "568" "0" "568" "0" "c.568C>G" "r.(?)" "p.(Gln190Glu)" "" "0000949738" "00007885" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Gly402Ser)" "" "0000979705" "00007885" "10" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Glu465Lys)" "" "0000999212" "00007885" "30" "1312" "-6" "1312" "-6" "c.1312-6G>A" "r.(=)" "p.(=)" "" "0001038566" "00007885" "30" "-14" "-6" "-14" "-5" "c.-14-6_-14-5del" "r.spl?" "p.?" "" "0001038567" "00007885" "30" "515" "-8" "515" "-8" "c.515-8C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000291632" "0000648321" "0000291633" "0000648322" "0000416937" "0000876426" "0000416938" "0000876427" "0000416939" "0000876428" "0000416940" "0000876429" "0000416941" "0000876430" "0000416942" "0000876431" "0000416943" "0000876432" "0000416944" "0000876433" "0000416945" "0000876434" "0000416946" "0000876435" "0000416947" "0000876436" "0000416948" "0000876437" "0000416949" "0000876438" "0000416950" "0000876439" "0000416951" "0000876440" "0000416952" "0000876441" "0000416952" "0000876501" "0000416953" "0000876442" "0000416954" "0000876443" "0000416955" "0000876444" "0000416956" "0000876445" "0000416957" "0000876446" "0000416958" "0000876447" "0000416958" "0000876502" "0000416959" "0000876448" "0000416960" "0000876449" "0000416961" "0000876450" "0000416962" "0000876451" "0000416963" "0000876452" "0000416964" "0000876453" "0000416965" "0000876454" "0000416966" "0000876455" "0000416967" "0000876456" "0000416968" "0000876457" "0000416969" "0000876458" "0000416970" "0000876459" "0000416971" "0000876460" "0000416972" "0000876461" "0000416973" "0000876462" "0000416974" "0000876463" "0000416975" "0000876464" "0000416976" "0000876465" "0000416977" "0000876466" "0000416978" "0000876467" "0000416979" "0000876468" "0000416980" "0000876469" "0000416981" "0000876470" "0000416982" "0000876471" "0000416983" "0000876472" "0000416983" "0000879689" "0000416984" "0000876473" "0000416985" "0000876474" "0000416986" "0000876475" "0000416987" "0000876476" "0000416988" "0000876477" "0000416989" "0000876478" "0000416990" "0000876479" "0000416991" "0000876480"