### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXN1) # 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}}" "FOXN1" "forkhead box N1" "17" "q11-q12" "unknown" "LRG_61" "UD_132084408751" "" "https://www.LOVD.nl/FOXN1" "" "1" "12765" "8456" "600838" "1" "1" "1" "1" "Alias WHN.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FOXN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-13 14:47:01" "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}}" "00008099" "FOXN1" "forkhead box N1" "001" "NM_003593.2" "" "NP_003584.2" "" "" "" "-29" "2668" "1947" "26850959" "26865175" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "02385" "TIDAND" "T-cell immunodeficiency, congenital alopecia and nail dystrophy" "AR" "601705" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02806" "IMD104" "immunodeficiency, type 104, severe combined" "AR" "608971" "brain" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-17 16:05:54" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06391" "TLIND" "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" "" "618806" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FOXN1" "02385" "FOXN1" "06391" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00148287" "" "" "" "2" "" "02359" "" "" "F" "yes" "Turkey" "00y06m" "0" "" "HSCT" "" "" "00150235" "" "" "" "6" "" "00006" "{PMID:Adriana 2004:15180707}, {PMID:Frank 1999:10206641}, {PMID:Pignata 1996:8911612}" "extensive 7-generation family, 6 affecteds, 55 unaffected heterozygous carriers, 2 sisters from Frank1999" "F" "" "Italy" "" "0" "" "" "south (Acerno)" "10206641-Fam" "00150236" "" "" "" "1" "" "00006" "{PMID:Markert 2011:20978268}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (distant cousins)" "F" "yes" "Portugal" "" "0" "" "thymus transplantation therapy" "" "20978268-Pam1Pat" "00150237" "" "" "" "1" "" "00006" "{PMID:Markert 2011:20978268}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "French;African" "20978268-Pam2Pat" "00150238" "" "" "" "1" "" "00006" "{PMID:Chou 2014:25173801}" "" "F" "yes" "Lebanon" "" "0" "" "" "" "25173801-Pat" "00291664" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291665" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334486" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334851" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00148287" "02806" "00150235" "02385" "00150236" "02385" "00150237" "02385" "00150238" "02385" "00291664" "00198" "00291665" "00198" "00334486" "05793" "00334851" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02385, 02806, 05793, 06391 ## Count = 7 "{{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}}" "0000120779" "02806" "00148287" "02359" "Familial, autosomal recessive" "00y06m" "nude severe T-cell immunodeficiency with normal B and NK cells, thymus dysgenesis, congenital alopecia and nail dystrophy" "" "00y06m" "nude SCID" "" "" "" "" "" "" "" "" "0000122639" "02385" "00150235" "00006" "Familial, autosomal recessive" "" "born with complete absence scalp hair /eyebrows / eyelashes; dystrophic nails, no thymic shadow on X-ray; striking impairment T-cell function (1 sister died 12m, other sister received bone marrow transplant)" "" "" "" "" "" "" "" "" "" "" "" "0000122640" "02385" "00150236" "00006" "Familial, autosomal recessive" "" "see paper, ..., born at term, nail dystrophy, no hair, infection" "" "" "" "" "" "" "" "" "" "" "" "0000122641" "02385" "00150237" "00006" "Familial, autosomal recessive" "" "see paper; ..., born at term, no hair, dystrophic nails, respiratory distress" "" "" "" "" "" "" "" "" "" "" "" "0000122642" "02385" "00150238" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse, eczematous rash progressed in 2w to erythroderma, severe diarrhea, congenital alopecia, T cell immunodeficiency" "00y01m" "" "diffuse, eczematous rash" "" "" "" "" "" "" "" "" "0000253199" "05793" "00334486" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253248" "05793" "00334851" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000149142" "00148287" "1" "02359" "02359" "2018-01-04 09:58:04" "" "" "PCR" "DNA" "blood" "" "0000151090" "00150235" "1" "00006" "00006" "2018-01-13 14:46:13" "" "" "SEQ" "DNA" "" "" "0000151091" "00150236" "1" "00006" "00006" "2018-01-13 15:02:05" "" "" "SEQ" "DNA" "" "" "0000151092" "00150237" "1" "00006" "00006" "2018-01-13 15:08:14" "" "" "SEQ" "DNA" "" "" "0000151093" "00150238" "1" "00006" "00006" "2018-01-13 16:22:02" "" "" "SEQ" "DNA" "" "" "0000292832" "00291664" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292833" "00291665" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335715" "00334486" "1" "04011" "04011" "2021-03-01 04:54:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336080" "00334851" "1" "04011" "04011" "2021-03-02 03:39:59" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000149142" "FOXN1" "0000151090" "FOXN1" "0000151091" "FOXN1" "0000151092" "FOXN1" "0000151093" "FOXN1" ## 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 = 54 "{{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}}" "0000242460" "3" "90" "17" "26857816" "26857816" "subst" "4.06075E-6" "02359" "FOXN1_000001" "g.26857816G>A" "" "" "" "NM_003593.2:909G>A (V294I)" "" "Germline" "yes" "" "0" "" "" "g.28530798G>A" "" "pathogenic" "" "0000244260" "3" "90" "17" "26856175" "26856175" "subst" "4.06062E-6" "00006" "FOXN1_000002" "g.26856175C>T" "" "{PMID:Frank 1999:10206641}" "" "792C>T (R255X)" "" "Germline" "yes" "" "0" "" "" "g.28529157C>T" "" "pathogenic" "" "0000244261" "3" "90" "17" "26856175" "26856175" "subst" "4.06062E-6" "00006" "FOXN1_000002" "g.26856175C>T" "" "{PMID:Markert 2011:20978268}" "" "R255X" "" "Germline" "" "" "0" "" "" "g.28529157C>T" "" "pathogenic" "" "0000244262" "3" "90" "17" "26861379" "26861379" "subst" "0" "00006" "FOXN1_000003" "g.26861379C>T" "" "{PMID:Markert 2011:20978268}" "" "C987T (R320W)" "" "Germline" "" "" "0" "" "" "g.28534361C>T" "" "pathogenic" "" "0000244263" "3" "90" "17" "26851959" "26851959" "del" "0" "00006" "FOXN1_000004" "g.26851959del" "" "{PMID:Chou 2014:25173801}" "" "562delA" "" "Germline" "" "" "0" "" "" "g.28524941del" "" "pathogenic" "" "0000256054" "0" "50" "17" "26857825" "26857825" "subst" "0" "01943" "FOXN1_000007" "g.26857825A>T" "" "" "" "FOXN1(NM_003593.2):c.889A>T (p.I297F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28530807A>T" "" "VUS" "" "0000280866" "0" "10" "17" "26851501" "26851501" "subst" "0.725036" "02325" "FOXN1_000006" "g.26851501G>A" "" "" "" "FOXN1(NM_003593.3):c.124-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28524483G>A" "" "benign" "" "0000284090" "0" "50" "17" "26851093" "26851093" "subst" "0" "02326" "FOXN1_000005" "g.26851093T>C" "" "" "" "FOXN1(NM_003593.2):c.106T>C (p.(Ser36Pro), p.S36P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28524075T>C" "" "VUS" "" "0000560716" "0" "50" "17" "26851070" "26851070" "subst" "4.17557E-6" "01943" "FOXN1_000008" "g.26851070T>C" "" "" "" "FOXN1(NM_003593.2):c.83T>C (p.M28T, p.(Met28Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28524052T>C" "" "VUS" "" "0000560717" "0" "30" "17" "26851093" "26851093" "subst" "0" "01804" "FOXN1_000005" "g.26851093T>C" "" "" "" "FOXN1(NM_003593.2):c.106T>C (p.(Ser36Pro), p.S36P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28524075T>C" "" "likely benign" "" "0000560718" "0" "70" "17" "26857765" "26857765" "subst" "0" "02327" "FOXN1_000009" "g.26857765A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28530747A>G" "" "likely pathogenic" "" "0000560719" "0" "30" "17" "26857842" "26857842" "subst" "4.06085E-6" "01943" "FOXN1_000010" "g.26857842G>A" "" "" "" "FOXN1(NM_003593.2):c.906G>A (p.T302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28530824G>A" "" "likely benign" "" "0000560720" "0" "30" "17" "26861773" "26861773" "subst" "0.000731713" "01943" "FOXN1_000011" "g.26861773C>T" "" "" "" "FOXN1(NM_003593.2):c.1184C>T (p.P395L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28534755C>T" "" "likely benign" "" "0000616435" "0" "30" "17" "26851943" "26851943" "subst" "0.0010681" "01943" "FOXN1_000012" "g.26851943C>T" "" "" "" "FOXN1(NM_003593.2):c.546C>T (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28524925C>T" "" "likely benign" "" "0000616436" "0" "30" "17" "26864291" "26864291" "subst" "0" "01943" "FOXN1_000013" "g.26864291G>T" "" "" "" "FOXN1(NM_003593.2):c.1784G>T (p.G595V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28537273G>T" "" "likely benign" "" "0000616437" "0" "30" "17" "26864439" "26864439" "subst" "0.00015173" "01943" "FOXN1_000015" "g.26864439C>T" "" "" "" "FOXN1(NM_003593.2):c.1932C>T (p.P644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28537421C>T" "" "likely benign" "" "0000623637" "0" "30" "17" "26864319" "26864319" "subst" "9.3623E-5" "02326" "FOXN1_000014" "g.26864319C>A" "" "" "" "FOXN1(NM_003593.2):c.1812C>A (p.G604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28537301C>A" "" "likely benign" "" "0000649521" "1" "50" "17" "26862138" "26862138" "subst" "2.06106E-5" "03575" "FOXN1_000016" "g.26862138G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs200053524}" "Germline" "" "rs200053524" "0" "" "" "g.28535120G>T" "" "VUS" "" "0000649522" "1" "30" "17" "26864264" "26864264" "subst" "0.000321094" "03575" "FOXN1_000017" "g.26864264G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs73278523}" "Germline" "" "rs73278523" "0" "" "" "g.28537246G>A" "" "likely benign" "" "0000658067" "0" "10" "17" "26857788" "26857788" "subst" "0.113286" "02327" "FOXN1_000018" "g.26857788T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28530770T>C" "" "benign" "" "0000658068" "0" "50" "17" "26861451" "26861451" "subst" "0" "01943" "FOXN1_000019" "g.26861451T>A" "" "" "" "FOXN1(NM_003593.2):c.1030T>A (p.C344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28534433T>A" "" "VUS" "" "0000658069" "0" "50" "17" "26864139" "26864139" "subst" "1.22989E-5" "01943" "FOXN1_000020" "g.26864139C>G" "" "" "" "FOXN1(NM_003593.2):c.1632C>G (p.N544K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28537121C>G" "" "VUS" "" "0000680811" "0" "30" "17" "26851121" "26851121" "subst" "0.000897465" "02326" "FOXN1_000021" "g.26851121G>A" "" "" "" "FOXN1(NM_003593.2):c.123+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692291" "0" "30" "17" "26864217" "26864217" "subst" "0.0010261" "02326" "FOXN1_000022" "g.26864217G>A" "" "" "" "FOXN1(NM_003593.2):c.1710G>A (p.S570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692292" "0" "30" "17" "26864397" "26864397" "subst" "0" "02326" "FOXN1_000023" "g.26864397C>T" "" "" "" "FOXN1(NM_003593.2):c.1890C>T (p.A630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726244" "0" "30" "17" "26864439" "26864439" "subst" "0.00015173" "02326" "FOXN1_000015" "g.26864439C>T" "" "" "" "FOXN1(NM_003593.2):c.1932C>T (p.P644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734463" "0" "70" "17" "26857841" "26857841" "subst" "6.09117E-5" "04011" "FOXN1_000025" "g.26857841C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735038" "0" "70" "17" "26851051" "26851051" "subst" "2.06182E-5" "04011" "FOXN1_000024" "g.26851051G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000807854" "0" "50" "17" "26864264" "26864264" "subst" "0.000321094" "01943" "FOXN1_000017" "g.26864264G>A" "" "" "" "FOXN1(NM_003593.2):c.1757G>A (p.C586Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854789" "0" "30" "17" "26851101" "26851101" "subst" "0.00017521" "01943" "FOXN1_000027" "g.26851101C>T" "" "" "" "FOXN1(NM_003593.2):c.114C>T (p.A38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854790" "0" "90" "17" "26851540" "26851540" "del" "0" "02327" "FOXN1_000028" "g.26851540del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854791" "0" "50" "17" "26851708" "26851708" "subst" "0" "01943" "FOXN1_000029" "g.26851708T>C" "" "" "" "FOXN1(NM_003593.2):c.311T>C (p.F104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854792" "0" "50" "17" "26856136" "26856136" "subst" "0.000223361" "01943" "FOXN1_000031" "g.26856136C>T" "" "" "" "FOXN1(NM_001369369.1):c.724C>T (p.(Pro242Ser)), FOXN1(NM_003593.2):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865119" "0" "30" "17" "26851037" "26851037" "subst" "6.56093E-5" "01943" "FOXN1_000026" "g.26851037C>G" "" "" "" "FOXN1(NM_003593.2):c.50C>G (p.T17S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865120" "0" "50" "17" "26851875" "26851875" "subst" "0" "01943" "FOXN1_000030" "g.26851875G>A" "" "" "" "FOXN1(NM_003593.2):c.478G>A (p.E160K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865121" "0" "50" "17" "26861500" "26861500" "subst" "0" "02325" "FOXN1_000032" "g.26861500T>C" "" "" "" "FOXN1(NM_003593.3):c.1079T>C (p.L360P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865122" "0" "30" "17" "26861767" "26861767" "subst" "0.000107592" "01943" "FOXN1_000033" "g.26861767G>A" "" "" "" "FOXN1(NM_003593.2):c.1178G>A (p.G393D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893404" "0" "30" "17" "26851676" "26851676" "subst" "0.00143696" "02326" "FOXN1_000034" "g.26851676C>G" "" "" "" "FOXN1(NM_003593.2):c.279C>G (p.L93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893405" "0" "30" "17" "26851894" "26851894" "subst" "0.000342078" "02326" "FOXN1_000035" "g.26851894C>T" "" "" "" "FOXN1(NM_003593.2):c.497C>T (p.A166V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893406" "0" "30" "17" "26856136" "26856136" "subst" "0.000223361" "02326" "FOXN1_000031" "g.26856136C>T" "" "" "" "FOXN1(NM_001369369.1):c.724C>T (p.(Pro242Ser)), FOXN1(NM_003593.2):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893407" "0" "50" "17" "26861536" "26861536" "subst" "1.62569E-5" "02327" "FOXN1_000036" "g.26861536G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914754" "0" "30" "17" "26851559" "26851559" "subst" "0.000536222" "02326" "FOXN1_000037" "g.26851559C>T" "" "" "" "FOXN1(NM_003593.2):c.162C>T (p.D54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914755" "0" "50" "17" "26864141" "26864141" "subst" "4.0996E-6" "02325" "FOXN1_000038" "g.26864141T>C" "" "" "" "FOXN1(NM_003593.3):c.1634T>C (p.L545P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926417" "0" "30" "17" "26861788" "26861788" "subst" "4.13305E-6" "02326" "FOXN1_000039" "g.26861788C>T" "" "" "" "FOXN1(NM_003593.2):c.1199C>T (p.P400L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982376" "0" "50" "17" "26856136" "26856136" "subst" "0.000223361" "01804" "FOXN1_000031" "g.26856136C>T" "" "" "" "FOXN1(NM_001369369.1):c.724C>T (p.(Pro242Ser)), FOXN1(NM_003593.2):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982377" "0" "50" "17" "26862043" "26862043" "subst" "5.72756E-5" "01804" "FOXN1_000040" "g.26862043C>T" "" "" "" "FOXN1(NM_001369369.1):c.1454C>T (p.(Pro485Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003047" "0" "30" "17" "26851004" "26851004" "subst" "4.49339E-5" "01804" "FOXN1_000041" "g.26851004C>T" "" "" "" "FOXN1(NM_003593.2):c.17C>T (p.(Pro6Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003048" "0" "50" "17" "26851070" "26851070" "subst" "4.17557E-6" "01804" "FOXN1_000008" "g.26851070T>C" "" "" "" "FOXN1(NM_003593.2):c.83T>C (p.M28T, p.(Met28Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003049" "0" "30" "17" "26862023" "26862023" "subst" "0" "01804" "FOXN1_000042" "g.26862023C>G" "" "" "" "FOXN1(NM_003593.2):c.1434C>G (p.(His478Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003050" "0" "30" "17" "26862025" "26862025" "subst" "4.0843E-6" "01804" "FOXN1_000043" "g.26862025T>C" "" "" "" "FOXN1(NM_003593.2):c.1436T>C (p.(Leu479Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015485" "0" "50" "17" "26851028" "26851028" "subst" "8.19995E-6" "02325" "FOXN1_000044" "g.26851028C>T" "" "" "" "FOXN1(NM_003593.3):c.41C>T (p.P14L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041704" "0" "50" "17" "26856158" "26856158" "subst" "0" "01804" "FOXN1_000045" "g.26856158C>T" "" "" "" "FOXN1(NM_001369369.1):c.746C>T (p.(Ser249Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041705" "0" "50" "17" "26861993" "26861993" "subst" "2.86008E-5" "01804" "FOXN1_000046" "g.26861993G>A" "" "" "" "FOXN1(NM_001369369.1):c.1404G>A (p.(Pro468=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041706" "0" "50" "17" "26864204" "26864204" "subst" "0.000102013" "01804" "FOXN1_000047" "g.26864204C>T" "" "" "" "FOXN1(NM_001369369.1):c.1697C>T (p.(Pro566Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FOXN1 ## Count = 54 "{{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}}" "0000242460" "00008099" "90" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Val294Ile)" "5" "0000244260" "00008099" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" "4" "0000244261" "00008099" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" "4" "0000244262" "00008099" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Trp)" "6" "0000244263" "00008099" "90" "562" "0" "562" "0" "c.562del" "r.(?)" "p.(Ser188Alafs*114)" "2" "0000256054" "00008099" "50" "889" "0" "889" "0" "c.889A>T" "r.(?)" "p.(Ile297Phe)" "" "0000280866" "00008099" "10" "124" "-20" "124" "-20" "c.124-20G>A" "r.(=)" "p.(=)" "" "0000284090" "00008099" "50" "106" "0" "106" "0" "c.106T>C" "r.(?)" "p.(Ser36Pro)" "" "0000560716" "00008099" "50" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Met28Thr)" "" "0000560717" "00008099" "30" "106" "0" "106" "0" "c.106T>C" "r.(?)" "p.(Ser36Pro)" "" "0000560718" "00008099" "70" "831" "-2" "831" "-2" "c.831-2A>G" "r.spl?" "p.?" "" "0000560719" "00008099" "30" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Thr302=)" "" "0000560720" "00008099" "30" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Pro395Leu)" "" "0000616435" "00008099" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asn182=)" "" "0000616436" "00008099" "30" "1784" "0" "1784" "0" "c.1784G>T" "r.(?)" "p.(Gly595Val)" "" "0000616437" "00008099" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Pro644=)" "" "0000623637" "00008099" "30" "1812" "0" "1812" "0" "c.1812C>A" "r.(?)" "p.(Gly604=)" "" "0000649521" "00008099" "50" "1549" "0" "1549" "0" "c.1549G>T" "r.(?)" "p.(Asp517Tyr)" "" "0000649522" "00008099" "30" "1757" "0" "1757" "0" "c.1757G>A" "r.(?)" "p.(Cys586Tyr)" "" "0000658067" "00008099" "10" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Leu284=)" "" "0000658068" "00008099" "50" "1030" "0" "1030" "0" "c.1030T>A" "r.(?)" "p.(Cys344Ser)" "" "0000658069" "00008099" "50" "1632" "0" "1632" "0" "c.1632C>G" "r.(?)" "p.(Asn544Lys)" "" "0000680811" "00008099" "30" "123" "11" "123" "11" "c.123+11G>A" "r.(=)" "p.(=)" "" "0000692291" "00008099" "30" "1710" "0" "1710" "0" "c.1710G>A" "r.(?)" "p.(Ser570=)" "" "0000692292" "00008099" "30" "1890" "0" "1890" "0" "c.1890C>T" "r.(?)" "p.(Ala630=)" "" "0000726244" "00008099" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Pro644=)" "" "0000734463" "00008099" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Thr302Met)" "" "0000735038" "00008099" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000807854" "00008099" "50" "1757" "0" "1757" "0" "c.1757G>A" "r.(?)" "p.(Cys586Tyr)" "" "0000854789" "00008099" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Ala38=)" "" "0000854790" "00008099" "90" "143" "0" "143" "0" "c.143del" "r.(?)" "p.(Cys48Serfs*254)" "" "0000854791" "00008099" "50" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Phe104Ser)" "" "0000854792" "00008099" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000865119" "00008099" "30" "50" "0" "50" "0" "c.50C>G" "r.(?)" "p.(Thr17Ser)" "" "0000865120" "00008099" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Glu160Lys)" "" "0000865121" "00008099" "50" "1079" "0" "1079" "0" "c.1079T>C" "r.(?)" "p.(Leu360Pro)" "" "0000865122" "00008099" "30" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Gly393Asp)" "" "0000893404" "00008099" "30" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Leu93=)" "" "0000893405" "00008099" "30" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ala166Val)" "" "0000893406" "00008099" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000893407" "00008099" "50" "1115" "0" "1115" "0" "c.1115G>A" "r.(?)" "p.(Arg372His)" "" "0000914754" "00008099" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Asp54=)" "" "0000914755" "00008099" "50" "1634" "0" "1634" "0" "c.1634T>C" "r.(?)" "p.(Leu545Pro)" "" "0000926417" "00008099" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Pro400Leu)" "" "0000982376" "00008099" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000982377" "00008099" "50" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Pro485Leu)" "" "0001003047" "00008099" "30" "17" "0" "17" "0" "c.17C>T" "r.(?)" "p.(Pro6Leu)" "" "0001003048" "00008099" "50" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Met28Thr)" "" "0001003049" "00008099" "30" "1434" "0" "1434" "0" "c.1434C>G" "r.(?)" "p.(His478Gln)" "" "0001003050" "00008099" "30" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Leu479Pro)" "" "0001015485" "00008099" "50" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Pro14Leu)" "" "0001041704" "00008099" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Ser249Leu)" "" "0001041705" "00008099" "50" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(=)" "" "0001041706" "00008099" "50" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Pro566Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000149142" "0000242460" "0000151090" "0000244260" "0000151091" "0000244261" "0000151092" "0000244262" "0000151093" "0000244263" "0000292832" "0000649521" "0000292833" "0000649522" "0000335715" "0000734463" "0000336080" "0000735038"