### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXE3) # 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}}" "FOXE3" "forkhead box E3" "1" "p32" "unknown" "NG_016192.1" "UD_132118314545" "" "http://www.LOVD.nl/FOXE3" "" "1" "3808" "2301" "601094" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/FOXE3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-02 12:07:39" "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}}" "00008083" "FOXE3" "forkhead box E3" "001" "NM_012186.2" "" "NP_036318.1" "" "" "" "-244" "1737" "960" "47881744" "47883724" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "01180" "ASGD1" "dysgenesis, anterior segment, type 1 (ASGD1)" "" "107250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02923" "ASGD2" "dysgenesis, anterior segment, type 2 (ASGD-2, aphakia, congenital primary)" "AR" "610256" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05644" "CTRCT34" "cataract, multiple types, type 34 (CTRCT-34)" "" "612968" "" "" "" "00006" "2019-08-09 10:45:05" "00006" "2021-12-10 21:51:32" "05645" "AAT11" "aneurysm, aortic, thoracic, familial, type 11 (AAT11)" "" "" "" "" "autosomal dominant" "00006" "2019-08-09 10:50:32" "00006" "2021-12-10 21:51:32" "06014" "AAT11" "{Aortic aneurysm, familial thoracic 11, susceptibility to}" "AD" "617349" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "FOXE3" "01180" "FOXE3" "02923" "FOXE3" "05644" "FOXE3" "05645" "FOXE3" "06014" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{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}}" "00025007" "" "" "" "3" "" "01155" "" "" "" "" "" "" "0" "" "" "" "" "00025009" "" "" "" "1" "" "01155" "" "" "" "" "" "" "0" "" "" "" "" "00064777" "" "" "" "2" "" "01588" "{PMID:Semina 2001:11159941}" "2-generation family, affected mother and daugther" "F" "no" "United States" "" "0" "" "" "" "" "00064778" "" "" "" "23" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064987" "" "" "" "3" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064988" "" "" "" "81" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064989" "" "" "" "18" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064990" "" "" "" "3" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064991" "" "" "" "1" "" "01588" "{PMID:Ormestad 2002:11980846}" "" "" "no" "Sweden" "" "0" "" "" "" "" "00064992" "" "" "" "3" "" "01588" "{PMID:Valleix 2006:16826526}" "3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "France" "" "0" "" "" "" "" "00064993" "" "" "" "6" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00064994" "" "" "" "3" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00064995" "" "" "" "5" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "2-generation family, 5 affecteds (4F, M)" "F;M" "" "Pakistan" "" "0" "" "" "" "" "00064996" "" "" "" "4" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "2-generation family, 4 affecteds (3F, M)" "F;M" "" "Pakistan" "" "0" "" "" "" "" "00064997" "" "" "" "7" "" "01588" "{PMID:Ali 2010:20664696}" "8-generation family, 7 affecteds (3F, 4M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00064999" "" "" "" "9" "" "01588" "{PMID:Ali 2010:20664696}" "6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Mexico" "" "0" "" "" "Mexican, Tlaxcala" "" "00065000" "" "" "" "5" "" "01588" "{PMID:Anjum 2010:20361012}" "6-generation family, 5 affecteds (5F), unaffected hetereozygous carrier parents/sibs" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00065002" "" "" "" "1" "" "01588" "{PMID:Brémond-Gignac 2010:20806048}" "" "" "" "United States" "" "0" "" "" "" "" "00065003" "" "" "" "1" "" "01588" "{PMID:Brémond-Gignac 2010:20806048}" "" "" "" "United States" "" "0" "" "" "" "" "00065004" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "no" "" "" "0" "" "" "white" "" "00065005" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "" "" "0" "" "" "white" "" "00065007" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Bangladesh" "" "0" "" "" "" "" "00065008" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "" "" "0" "" "" "" "" "00065009" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "" "" "0" "" "" "white" "" "00065010" "" "" "" "1" "" "01588" "{PMID:Gillespie 2014:25148791}" "" "" "" "" "" "0" "" "" "" "" "00065011" "" "" "" "6" "" "01588" "{PMID:Ullah 2016:26995144}" "6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00065013" "" "" "" "4" "" "00006" "{PMID:Ullah 2016:26995144}" "6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00065014" "" "" "" "5" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065015" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065016" "" "" "" "4" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065017" "" "" "" "3" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065018" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065019" "" "" "" "6" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065020" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065021" "" "" "" "233" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065022" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065023" "" "" "" "5" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065024" "" "" "" "12" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065025" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065026" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065027" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065028" "" "" "" "2" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00164722" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00260859" "" "" "" "5" "" "00006" "{PMID:Chen 2017:28418495}" "2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60039" "00382116" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "81" "00384350" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13860" "00385466" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15000185" "00385496" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16017070" "00385525" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17015864" "00411261" "" "" "" "1" "" "01164" "" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "198801" "00434075" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat31" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434190" "" "" "" "1" "" "00006" "{PMID:Zhang 2018:30078984}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "WCC9PatII1" "00440084" "" "" "" "3" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA102PatIV5" "00440085" "" "" "" "3" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA125PatIV2" "00440089" "" "" "" "4" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA201PatIII3" "00440090" "" "" "" "4" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA203PatIV2" "00445009" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "family, 3 affected" "" "" "United States" "" "0" "" "" "" "Pat23" "00453739" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV162" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00025007" "00198" "00025009" "00198" "00064777" "00296" "00064778" "00198" "00064987" "00198" "00064988" "00198" "00064989" "00198" "00064990" "00198" "00064991" "00296" "00064992" "02923" "00064993" "02923" "00064994" "02923" "00064995" "02923" "00064996" "00296" "00064997" "02923" "00064999" "02923" "00065000" "02923" "00065002" "00296" "00065003" "01178" "00065004" "00356" "00065005" "00356" "00065007" "00356" "00065008" "00356" "00065009" "00356" "00065010" "00296" "00065011" "02923" "00065013" "02923" "00164722" "00198" "00260859" "00296" "00382116" "01180" "00384350" "00198" "00385466" "04214" "00385496" "04214" "00385525" "04214" "00411261" "01180" "00434075" "00296" "00434129" "00296" "00434190" "00296" "00440084" "00198" "00440085" "00198" "00440089" "00198" "00440090" "00198" "00445009" "00296" "00453739" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00296, 00356, 01178, 01180, 02923, 04214, 05644, 05645, 06014 ## Count = 38 "{{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}}" "0000021128" "00198" "00025009" "01155" "Familial, autosomal recessive" "" "Aphakia, primary\r\nCongenital corneal opacity" "" "" "" "" "" "" "" "" "" "" "" "0000051145" "02923" "00064999" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia, microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051146" "02923" "00064997" "01588" "Familial, autosomal recessive" "" "congenital primary aphasia, microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051147" "00296" "00064777" "01588" "Familial, autosomal dominant" "" "primary phenotype congenital cataract, other eye anomalies include anterior segment dysgenesis, Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000051148" "00296" "00064991" "01588" "Unknown" "" "congenital cataract as primary phenotype, corneal opacity, Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000051149" "02923" "00064992" "01588" "Familial, autosomal recessive" "" "congenital primary aphasia as primary phenotype, aplasia of the anterior segment of the eye, iris absent, microphthalmia, retinal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000051150" "02923" "00064993" "01588" "Familial, autosomal recessive" "" "congenital primary aphasia, glaucoma, microcornea, Peters anomaly, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051151" "02923" "00064994" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia, microphthalmia, corneal opacity, iris absent" "" "" "" "" "" "" "" "" "" "" "" "0000051152" "02923" "00064995" "01588" "Familial, autosomal dominant" "" "congenital cataract and primary aphasia, coloboma, microphthalmia, sclerocornea, Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000051153" "00296" "00064996" "01588" "Familial, autosomal dominant" "" "congenital cataract, chorioretinal coloboma, microphthalmia, microcornea" "" "" "" "" "" "" "" "" "" "" "" "0000051154" "02923" "00065000" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia" "" "" "" "" "" "" "" "" "" "" "" "0000051155" "00296" "00065002" "01588" "Unknown" "" "congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "0000051156" "01178" "00065003" "01588" "Unknown" "" "lens opacity, aniridia, corneal limbal insufficiency, nystagmus, severe axile myopia, posterior capsular reaction after lens surgery" "" "" "" "" "" "" "" "" "" "" "" "0000051157" "00356" "00065004" "01588" "Familial, autosomal recessive" "" "lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc" "" "" "" "" "" "" "" "" "" "" "" "0000051158" "00356" "00065005" "01588" "Familial, autosomal recessive" "" "lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc" "" "" "" "" "" "" "" "" "" "" "" "0000051159" "00356" "00065007" "01588" "Familial, autosomal recessive" "" "aphakia, abnormal anterior segment of the eye, dysplastic irides, microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051160" "00356" "00065008" "01588" "Familial, autosomal recessive" "" "aphakia, corneal opacity, glaucoma, microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "0000051161" "00356" "00065009" "01588" "Familial, autosomal recessive" "" "absence of anterior segment, corneal opacity, coloboma, glaucoma, microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "0000051162" "00296" "00065010" "01588" "Unknown" "" "congenital cataract, vitreoretinal dysplasia, neurodevelopmental delay, joint laxity" "" "" "" "" "" "" "" "" "" "" "" "0000051163" "02923" "00065011" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia, anophthalmia, corneal opacity" "" "" "" "" "" "" "" "" "" "" "" "0000051165" "02923" "00065013" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000129761" "00198" "00164722" "01807" "Unknown" "" "HP:0001724 (Aortic dilatation)" "" "" "" "" "" "" "" "" "" "" "" "0000199391" "00296" "00260859" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-34" "congenital cataract" "" "0000275958" "01180" "00382116" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 107250" "" "" "" "" "" "" "" "" "" "MIM, 107250" "" "0000278135" "00198" "00384350" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Congenital motor nystagmus" "" "0000279261" "04214" "00385466" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts; trisomy 21" "" "0000279291" "04214" "00385496" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000279320" "04214" "00385525" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "anterior segment dysgnenesis" "" "0000303337" "01180" "00411261" "01164" "Familial, autosomal recessive" "" "Visual impairment, Abnormal eye morphology, Congenital primary aphakia" "" "" "" "" "" "" "" "" "" "1y" "" "0000324451" "00296" "00434075" "00006" "Familial, autosomal dominant" "" "bilateral total cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324548" "00296" "00434190" "00006" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000329982" "00198" "00440084" "04543" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000329983" "00198" "00440085" "04543" "Familial, autosomal recessive" "" "see paper; ..., anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000329987" "00198" "00440089" "04543" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000329988" "00198" "00440090" "04543" "Familial, autosomal recessive" "" "see paper; ..., anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000334260" "00296" "00445009" "00006" "Familial, autosomal dominant" "" "early onset adult cataract (40s), retinal detachment" "" "" "" "" "" "" "" "" "" "cataract" "" "0000342396" "00152" "00453739" "00006" "Unknown" "" "mitral valve prolapse, root aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025009" "00025007" "1" "01155" "01155" "2014-12-01 11:57:38" "" "" "SEQ" "DNA" "" "" "0000025010" "00025009" "1" "01155" "01155" "2014-12-01 12:26:03" "" "" "SEQ" "DNA" "" "" "0000064919" "00064777" "1" "01588" "01588" "2016-05-12 20:26:34" "00006" "2016-05-15 11:49:12" "SEQ" "DNA" "" "" "0000064921" "00064778" "1" "01588" "01588" "2016-05-12 20:42:45" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065131" "00064987" "1" "01588" "01588" "2016-05-13 17:24:23" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065132" "00064988" "1" "01588" "01588" "2016-05-13 19:01:47" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065133" "00064989" "1" "01588" "01588" "2016-05-13 19:16:14" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065134" "00064990" "1" "01588" "01588" "2016-05-13 19:24:19" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065135" "00064991" "1" "01588" "01588" "2016-05-13 19:30:08" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065136" "00064992" "1" "01588" "01588" "2016-05-13 19:43:53" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065137" "00064993" "1" "01588" "01588" "2016-05-13 19:53:05" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065138" "00064994" "1" "01588" "01588" "2016-05-13 19:56:55" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065139" "00064995" "1" "01588" "01588" "2016-05-13 19:59:56" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065140" "00064996" "1" "01588" "01588" "2016-05-13 20:02:23" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065141" "00064997" "1" "01588" "01588" "2016-05-13 20:05:34" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065142" "00064999" "1" "01588" "01588" "2016-05-13 20:10:13" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065143" "00065000" "1" "01588" "01588" "2016-05-13 20:13:29" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065145" "00065002" "1" "01588" "01588" "2016-05-13 20:18:24" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065146" "00065003" "1" "01588" "01588" "2016-05-13 20:25:07" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065147" "00065004" "1" "01588" "01588" "2016-05-13 20:29:22" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065148" "00065005" "1" "01588" "01588" "2016-05-13 20:35:08" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065149" "00065007" "1" "01588" "01588" "2016-05-13 20:49:12" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065150" "00065008" "1" "01588" "01588" "2016-05-13 20:51:52" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065151" "00065009" "1" "01588" "01588" "2016-05-13 21:05:19" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065152" "00065010" "1" "01588" "01588" "2016-05-13 21:07:13" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065153" "00065011" "1" "01588" "01588" "2016-05-13 21:08:58" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065156" "00065013" "1" "00006" "00006" "2016-05-15 16:28:23" "" "" "SEQ" "DNA" "" "" "0000065157" "00065014" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065158" "00065015" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065159" "00065016" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065160" "00065017" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065161" "00065018" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065162" "00065019" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065163" "00065020" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065164" "00065021" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065165" "00065022" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065166" "00065023" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065167" "00065024" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065168" "00065025" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065169" "00065026" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065170" "00065027" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065171" "00065028" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165589" "00164722" "1" "01807" "01807" "2018-06-05 19:09:20" "" "" "SEQ" "DNA" "" "" "0000261963" "00260859" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000383332" "00382116" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000385575" "00384350" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386695" "00385466" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386725" "00385496" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386754" "00385525" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested" "0000412526" "00411261" "1" "01164" "01164" "2022-06-09 11:41:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000435542" "00434075" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435658" "00434190" "1" "00006" "00006" "2023-03-21 18:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000441566" "00440084" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000441567" "00440085" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000441571" "00440089" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000441572" "00440090" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000446578" "00445009" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455351" "00453739" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{geneid}}" "0000025009" "FOXE3" "0000025010" "FOXE3" "0000064919" "FOXE3" "0000064921" "FOXE3" "0000065131" "FOXE3" "0000065132" "FOXE3" "0000065133" "FOXE3" "0000065134" "FOXE3" "0000065135" "FOXE3" "0000065136" "FOXE3" "0000065137" "FOXE3" "0000065138" "FOXE3" "0000065139" "FOXE3" "0000065140" "FOXE3" "0000065141" "FOXE3" "0000065142" "FOXE3" "0000065143" "FOXE3" "0000065145" "FOXE3" "0000065146" "FOXE3" "0000065147" "FOXE3" "0000065148" "FOXE3" "0000065149" "FOXE3" "0000065150" "FOXE3" "0000065151" "FOXE3" "0000065152" "FOXE3" "0000065153" "FOXE3" "0000065156" "FOXE3" "0000065157" "FOXE3" "0000065158" "FOXE3" "0000065159" "FOXE3" "0000065160" "FOXE3" "0000065161" "FOXE3" "0000065162" "FOXE3" "0000065163" "FOXE3" "0000065164" "FOXE3" "0000065165" "FOXE3" "0000065166" "FOXE3" "0000065167" "FOXE3" "0000065168" "FOXE3" "0000065169" "FOXE3" "0000065170" "FOXE3" "0000065171" "FOXE3" "0000261963" "FOXE3" "0000383332" "FOXE3" "0000385575" "FOXE3" "0000386695" "FOXE3" "0000386725" "FOXE3" "0000386754" "FOXE3" "0000412526" "FOXE3" ## 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 = 134 "{{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}}" "0000047852" "0" "90" "1" "47882008" "47882011" "del" "0" "01155" "FOXE3_000001" "g.47882008_47882011del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic" "" "0000047853" "3" "90" "1" "47882345" "47882345" "subst" "0" "01155" "FOXE3_000002" "g.47882345C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47416673C>G" "" "pathogenic" "" "0000047854" "0" "90" "1" "47882256" "47882256" "subst" "8.76775E-5" "01155" "FOXE3_000003" "g.47882256G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "pathogenic" "" "0000047855" "0" "90" "1" "47882692" "47882692" "del" "0" "01155" "FOXE3_000004" "g.47882692del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47417020del" "" "pathogenic" "" "0000096575" "21" "70" "1" "47882929" "47882929" "dup" "0" "01588" "FOXE3_000007" "g.47882929dup" "" "{PMID:Semina 2001:11159941}" "" "insG943" "frameshift variant, not in 180 control chromosomes" "Germline" "yes" "" "0" "" "" "g.47417257dup" "" "likely pathogenic" "" "0000096576" "0" "30" "1" "47882574" "47882574" "subst" "0.00656968" "01588" "FOXE3_000015" "g.47882574G>C" "23/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "missense variant; 16/161 cases, 7/90 controls" "Germline" "" "" "0" "" "" "g.47416902G>C" "" "likely benign" "" "0000096787" "0" "30" "1" "47882885" "47882885" "subst" "0.00496888" "01588" "FOXE3_000019" "g.47882885A>G" "3/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "missense variant; 2/161 cases, 1/90 controls" "Germline" "" "" "0" "" "" "g.47417213A>G" "" "likely benign" "" "0000096788" "0" "10" "1" "47882497" "47882497" "subst" "0.34783" "01588" "FOXE3_000012" "g.47882497C>T" "81/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "silent variant; 48/161 cases, 33/90 controls" "Germline" "" "" "0" "" "" "g.47416825C>T" "" "benign" "" "0000096789" "0" "10" "1" "47882605" "47882605" "subst" "0.00758828" "01588" "FOXE3_000016" "g.47882605C>G" "18/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "silent variant; 9/161 cases, 9/90 controls" "Germline" "" "" "0" "" "" "g.47416933C>G" "" "benign" "" "0000096790" "0" "10" "1" "47882815" "47882815" "subst" "0.000178968" "01588" "FOXE3_000018" "g.47882815C>G" "3/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "silent variant; 1/161 cases, 2/90 controls" "Germline" "" "" "0" "" "" "g.47417143C>G" "" "benign" "" "0000096791" "0" "70" "1" "47882256" "47882256" "subst" "8.76775E-5" "01588" "FOXE3_000003" "g.47882256G>T" "" "{PMID:Ormestad 2002:11980846}" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "likely pathogenic" "" "0000096792" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Valleix 2006:16826526}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096793" "3" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "01588" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic" "" "0000096794" "3" "70" "1" "47882008" "47882011" "del" "0" "01588" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "likely pathogenic" "" "0000096795" "1" "70" "1" "47882945" "47882945" "subst" "0" "01588" "FOXE3_000020" "g.47882945T>C" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47417273T>C" "" "likely pathogenic" "" "0000096796" "1" "70" "1" "47882133" "47882133" "subst" "0" "01588" "FOXE3_000009" "g.47882133G>C" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47416461G>C" "" "likely pathogenic" "" "0000096797" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Ali 2010:20664696}" "" "" "homozygosity mapping; nonsense variant" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096798" "3" "70" "1" "47882279" "47882279" "subst" "0" "01588" "FOXE3_000005" "g.47882279T>C" "" "{PMID:Ali 2010:20664696}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416607T>C" "" "likely pathogenic" "" "0000096799" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Anjum 2010:20361012}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096801" "1" "70" "1" "47882946" "47882946" "subst" "0" "01588" "FOXE3_000008" "g.47882946G>C" "" "{PMID:Brémond-Gignac 2010:20806048}" "" "" "" "Germline" "" "" "0" "" "" "g.47417274G>C" "" "likely pathogenic" "" "0000096802" "1" "70" "1" "47882558" "47882566" "dup" "0" "01588" "FOXE3_000014" "g.47882558_47882566dup" "" "{PMID:Brémond-Gignac 2010:20806048}" "" "" "" "Germline" "" "" "0" "" "" "g.47416886_47416894dup" "" "likely pathogenic" "" "0000096803" "1" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "01588" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic" "" "0000096804" "2" "70" "1" "47882692" "47882692" "del" "0" "01588" "FOXE3_000017" "g.47882692del" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417020del" "" "likely pathogenic" "" "0000096805" "3" "70" "1" "47882544" "47882544" "del" "0" "01588" "FOXE3_000013" "g.47882544del" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416872del" "" "likely pathogenic" "" "0000096806" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096807" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096808" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096809" "1" "70" "1" "47882276" "47882276" "subst" "2.0558E-5" "01588" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Gillespie 2014:25148791}" "" "" "" "Germline" "" "" "0" "" "" "g.47416604A>G" "" "likely pathogenic" "" "0000096810" "3" "90" "1" "47882276" "47882276" "subst" "2.0558E-5" "01588" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Ullah 2016:26995144}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416604A>G" "" "pathogenic" "" "0000096813" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Ullah 2016:26995144}" "" "21_24delGGAT" "" "Germline" "yes" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic" "" "0000096814" "1" "10" "1" "47882003" "47882003" "subst" "0.000690825" "00006" "FOXE3_000021" "g.47882003G>A" "5/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "5/158 African American controls" "Germline" "" "" "0" "" "" "g.47416331G>A" "" "benign" "" "0000096815" "1" "10" "1" "47882122" "47882122" "subst" "0" "00006" "FOXE3_000022" "g.47882122G>A" "1/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/110 Asian controls" "Germline" "" "" "0" "" "" "g.47416450G>A" "" "benign" "" "0000096816" "1" "30" "1" "47882133" "47882133" "subst" "0" "00006" "FOXE3_000009" "g.47882133G>C" "4/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416461G>C" "" "likely benign" "" "0000096817" "1" "10" "1" "47882145" "47882145" "subst" "0" "00006" "FOXE3_000023" "g.47882145C>T" "3/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "158C>T (P53P)" "3/110 Asian controls\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000096818" "1" "10" "1" "47882263" "47882263" "subst" "0.000215614" "00006" "FOXE3_000024" "g.47882263C>T" "1/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/158 African American controls" "Germline" "" "" "0" "" "" "g.47416591C>T" "" "benign" "" "0000096819" "1" "10" "1" "47882410" "47882410" "subst" "0.00226441" "00006" "FOXE3_000025" "g.47882410G>A" "6/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "6/166 African American controls" "Germline" "" "" "0" "" "" "g.47416738G>A" "" "benign" "" "0000096820" "1" "10" "1" "47882432" "47882432" "subst" "0" "00006" "FOXE3_000026" "g.47882432C>T" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/168 Hispanic controls" "Germline" "" "" "0" "" "" "g.47416760C>T" "" "benign" "" "0000096821" "1" "10" "1" "47882497" "47882497" "subst" "0.34783" "00006" "FOXE3_000012" "g.47882497C>T" "233/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "rs34082359" "0" "" "" "g.47416825C>T" "" "benign" "" "0000096822" "1" "10" "1" "47882514" "47882514" "subst" "0.00060619" "00006" "FOXE3_000027" "g.47882514C>T" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/322 Caucasian controls" "Germline" "" "" "0" "" "" "g.47416842C>T" "" "benign" "" "0000096823" "1" "10" "1" "47882588" "47882588" "subst" "0.00429931" "00006" "FOXE3_000028" "g.47882588G>A" "5/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416916G>A" "" "benign" "" "0000096824" "1" "10" "1" "47882605" "47882605" "subst" "0.00758828" "00006" "FOXE3_000016" "g.47882605C>G" "12/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416933C>G" "" "benign" "" "0000096825" "1" "10" "1" "47882770" "47882770" "subst" "0" "00006" "FOXE3_000029" "g.47882770C>G" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/92 Asian controls" "Germline" "" "" "0" "" "" "g.47417098C>G" "" "benign" "" "0000096826" "1" "10" "1" "47882818" "47882818" "subst" "0.000250179" "00006" "FOXE3_000030" "g.47882818C>T" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/166 African American controls" "Germline" "" "" "0" "" "" "g.47417146C>T" "" "benign" "" "0000096827" "1" "10" "1" "47882885" "47882885" "subst" "0.00496888" "00006" "FOXE3_000019" "g.47882885A>G" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417213A>G" "" "benign" "" "0000096828" "1" "10" "1" "47882916" "47882916" "subst" "0.0036151" "00006" "FOXE3_000031" "g.47882916G>A" "2/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/322 Caucasian controls" "Germline" "" "" "0" "" "" "g.47417244G>A" "" "benign" "" "0000245537" "0" "30" "1" "47882885" "47882885" "subst" "0.00496888" "02330" "FOXE3_000019" "g.47882885A>G" "" "" "" "FOXE3(NM_012186.3):c.898A>G (p.S300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47417213A>G" "" "likely benign" "" "0000255905" "0" "50" "1" "47882391" "47882391" "subst" "9.01218E-5" "01943" "FOXE3_000035" "g.47882391A>G" "" "" "" "FOXE3(NM_012186.2):c.404A>G (p.E135G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416719A>G" "" "VUS" "" "0000276890" "0" "10" "1" "47882221" "47882221" "subst" "0.00140845" "02330" "FOXE3_000033" "g.47882221G>A" "" "" "" "FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416549G>A" "" "benign" "" "0000276891" "0" "10" "1" "47882410" "47882410" "subst" "0.00226441" "02330" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416738G>A" "" "benign" "" "0000276892" "0" "30" "1" "47882818" "47882818" "subst" "0.000250179" "02330" "FOXE3_000030" "g.47882818C>T" "" "" "" "FOXE3(NM_012186.3):c.831C>T (p.G277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47417146C>T" "" "likely benign" "" "0000287840" "0" "50" "1" "47882145" "47882145" "subst" "0" "01943" "FOXE3_000023" "g.47882145C>T" "" "" "" "FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416473C>T" "" "VUS" "" "0000287841" "0" "30" "1" "47882212" "47882212" "subst" "0" "01943" "FOXE3_000032" "g.47882212G>T" "" "" "" "FOXE3(NM_012186.2):c.225G>T (p.S75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416540G>T" "" "likely benign" "" "0000287842" "0" "10" "1" "47882221" "47882221" "subst" "0.00140845" "01943" "FOXE3_000033" "g.47882221G>A" "" "" "" "FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416549G>A" "" "benign" "" "0000287843" "0" "30" "1" "47882227" "47882227" "subst" "0.000215948" "01943" "FOXE3_000034" "g.47882227C>T" "" "" "" "FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416555C>T" "" "likely benign" "" "0000287844" "0" "30" "1" "47882410" "47882410" "subst" "0.00226441" "01943" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416738G>A" "" "likely benign" "" "0000287846" "0" "30" "1" "47882574" "47882574" "subst" "0.00656968" "01943" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416902G>C" "" "likely benign" "" "0000287847" "0" "50" "1" "47882815" "47882815" "del" "0" "01943" "FOXE3_000037" "g.47882815del" "" "" "" "FOXE3(NM_012186.2):c.828delC (p.G277Afs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47417143del" "" "VUS" "" "0000320818" "0" "30" "1" "47882574" "47882574" "subst" "0.00656968" "01804" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416902G>C" "" "likely benign" "" "0000369314" "0" "50" "1" "47882181" "47882181" "subst" "0" "01807" "FOXE3_000038" "g.47882181G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47416509G>T" "" "VUS" "" "0000507778" "0" "50" "1" "47882024" "47882024" "subst" "0" "02326" "FOXE3_000039" "g.47882024T>G" "" "" "" "FOXE3(NM_012186.3):c.37T>G (p.F13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416352T>G" "" "VUS" "" "0000507779" "0" "30" "1" "47882114" "47882114" "subst" "0" "01943" "FOXE3_000040" "g.47882114G>A" "" "" "" "FOXE3(NM_012186.2):c.127G>A (p.E43K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416442G>A" "" "likely benign" "" "0000507782" "0" "30" "1" "47882321" "47882321" "subst" "3.67431E-5" "01943" "FOXE3_000043" "g.47882321C>T" "" "" "" "FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416649C>T" "" "likely benign" "" "0000507783" "0" "10" "1" "47882497" "47882497" "subst" "0.34783" "02329" "FOXE3_000012" "g.47882497C>T" "" "" "" "FOXE3(NM_012186.3):c.510C>T (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416825C>T" "" "benign" "" "0000507784" "0" "50" "1" "47882512" "47882512" "subst" "0" "02327" "FOXE3_000044" "g.47882512C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416840C>G" "" "VUS" "" "0000507785" "0" "50" "1" "47882529" "47882529" "subst" "4.80307E-5" "02326" "FOXE3_000045" "g.47882529G>A" "" "" "" "FOXE3(NM_012186.2):c.542G>A (p.G181E), FOXE3(NM_012186.3):c.542G>A (p.G181E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416857G>A" "" "VUS" "" "0000507787" "0" "50" "1" "47882558" "47882566" "dup" "0" "01943" "FOXE3_000014" "g.47882558_47882566dup" "" "" "" "FOXE3(NM_012186.2):c.571_579dupTACGCGCCC (p.Y191_P193dup), FOXE3(NM_012186.3):c.571_579dupTACGCGCCC (p.Y191_P193dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416886_47416894dup" "" "VUS" "" "0000507788" "0" "50" "1" "47882558" "47882566" "dup" "0" "02326" "FOXE3_000014" "g.47882558_47882566dup" "" "" "" "FOXE3(NM_012186.2):c.571_579dupTACGCGCCC (p.Y191_P193dup), FOXE3(NM_012186.3):c.571_579dupTACGCGCCC (p.Y191_P193dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416886_47416894dup" "" "VUS" "" "0000507789" "0" "10" "1" "47882574" "47882574" "subst" "0.00656968" "02330" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416902G>C" "" "benign" "" "0000507790" "0" "30" "1" "47882690" "47882690" "subst" "0" "01943" "FOXE3_000047" "g.47882690C>T" "" "" "" "FOXE3(NM_012186.2):c.703C>T (p.P235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417018C>T" "" "likely benign" "" "0000507791" "0" "90" "1" "47882692" "47882692" "del" "0" "01943" "FOXE3_000004" "g.47882692del" "" "" "" "FOXE3(NM_012186.2):c.705delC (p.E236Sfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417020del" "" "pathogenic" "" "0000507792" "0" "10" "1" "47882815" "47882815" "subst" "0.000178968" "02330" "FOXE3_000018" "g.47882815C>G" "" "" "" "FOXE3(NM_012186.2):c.828C>G (p.P276=), FOXE3(NM_012186.3):c.828C>G (p.P276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417143C>G" "" "benign" "" "0000507793" "0" "30" "1" "47882815" "47882815" "subst" "0.000178968" "01943" "FOXE3_000018" "g.47882815C>G" "" "" "" "FOXE3(NM_012186.2):c.828C>G (p.P276=), FOXE3(NM_012186.3):c.828C>G (p.P276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417143C>G" "" "likely benign" "" "0000507795" "0" "30" "1" "47882916" "47882916" "subst" "0.0036151" "01943" "FOXE3_000031" "g.47882916G>A" "" "" "" "FOXE3(NM_012186.2):c.929G>A (p.G310D), FOXE3(NM_012186.3):c.929G>A (p.(Gly310Asp), p.G310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417244G>A" "" "likely benign" "" "0000507796" "0" "10" "1" "47882916" "47882916" "subst" "0.0036151" "02326" "FOXE3_000031" "g.47882916G>A" "" "" "" "FOXE3(NM_012186.2):c.929G>A (p.G310D), FOXE3(NM_012186.3):c.929G>A (p.(Gly310Asp), p.G310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417244G>A" "" "benign" "" "0000592090" "3" "90" "1" "47882294" "47882294" "subst" "0" "00006" "FOXE3_000048" "g.47882294G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416622G>A" "" "pathogenic (recessive)" "" "0000605817" "0" "30" "1" "47882529" "47882529" "subst" "4.80307E-5" "01943" "FOXE3_000045" "g.47882529G>A" "" "" "" "FOXE3(NM_012186.2):c.542G>A (p.G181E), FOXE3(NM_012186.3):c.542G>A (p.G181E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416857G>A" "" "likely benign" "" "0000605818" "0" "30" "1" "47882600" "47882600" "subst" "0" "02327" "FOXE3_000049" "g.47882600T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416928T>G" "" "likely benign" "" "0000605819" "0" "30" "1" "47882690" "47882690" "subst" "0" "02327" "FOXE3_000047" "g.47882690C>T" "" "" "" "FOXE3(NM_012186.2):c.703C>T (p.P235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417018C>T" "" "likely benign" "" "0000620657" "0" "30" "1" "47882321" "47882321" "subst" "3.67431E-5" "02326" "FOXE3_000043" "g.47882321C>T" "" "" "" "FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416649C>T" "" "likely benign" "" "0000654060" "0" "50" "1" "47882417" "47882417" "subst" "8.2021E-6" "01943" "FOXE3_000050" "g.47882417T>C" "" "" "" "FOXE3(NM_012186.2):c.430T>C (p.Y144H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416745T>C" "" "VUS" "" "0000654061" "0" "30" "1" "47882764" "47882764" "subst" "0" "02326" "FOXE3_000051" "g.47882764G>A" "" "" "" "FOXE3(NM_012186.3):c.777G>A (p.P259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417092G>A" "" "likely benign" "" "0000675879" "0" "10" "1" "47882003" "47882003" "subst" "0.000690825" "02326" "FOXE3_000021" "g.47882003G>A" "" "" "" "FOXE3(NM_012186.3):c.16G>A (p.D6N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675880" "0" "30" "1" "47882150" "47882150" "subst" "0" "01943" "FOXE3_000052" "g.47882150C>A" "" "" "" "FOXE3(NM_012186.2):c.163C>A (p.P55T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675881" "0" "30" "1" "47882514" "47882514" "subst" "0.00060619" "01943" "FOXE3_000027" "g.47882514C>T" "" "" "" "FOXE3(NM_012186.2):c.527C>T (p.A176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675882" "0" "30" "1" "47882606" "47882606" "subst" "0" "01943" "FOXE3_000053" "g.47882606G>A" "" "" "" "FOXE3(NM_012186.2):c.619G>A (p.G207R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688198" "0" "50" "1" "47882530" "47882530" "subst" "1.63074E-5" "02326" "FOXE3_000054" "g.47882530G>T" "" "" "" "FOXE3(NM_012186.3):c.543G>T (p.G181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717543" "0" "30" "1" "47882122" "47882122" "subst" "0" "01943" "FOXE3_000022" "g.47882122G>A" "" "" "" "FOXE3(NM_012186.2):c.135G>A (p.A45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717544" "0" "30" "1" "47882148" "47882148" "subst" "0" "01943" "FOXE3_000055" "g.47882148C>T" "" "" "" "FOXE3(NM_012186.2):c.161C>T (p.T54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717545" "0" "30" "1" "47882161" "47882161" "subst" "0" "01943" "FOXE3_000056" "g.47882161C>T" "" "" "" "FOXE3(NM_012186.2):c.174C>T (p.G58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717546" "0" "30" "1" "47882491" "47882491" "subst" "1.0334E-5" "01943" "FOXE3_000057" "g.47882491G>A" "" "" "" "FOXE3(NM_012186.2):c.504G>A (p.K168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000797393" "11" "70" "1" "47882945" "47882945" "subst" "0" "00000" "FOXE3_000020" "g.47882945T>C" "" "{PMID:Patel 2019:30653986}" "" "c.958T-->C; p.*320Argext*72" "confirmed with Sanger sequencing; heterozygous" "Germline" "yes" "" "0" "" "" "g.47417273T>C" "" "likely pathogenic" "" "0000799408" "0" "10" "1" "47882574" "47882574" "subst" "0.00656968" "02329" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799409" "0" "30" "1" "47882611" "47882611" "subst" "0" "02330" "FOXE3_000058" "g.47882611G>C" "" "" "" "FOXE3(NM_012186.3):c.624G>C (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000812664" "0" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "00000" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Wang 2019:31106028}" "" "c.244A>G, p.(Met82Val)" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic" "" "0000814375" "0" "50" "1" "47882418" "47882418" "subst" "4.92146E-5" "00000" "FOXE3_000061" "g.47882418A>G" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.431A>G, p.(Tyr144Cys) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416746A>G" "" "VUS" "ACMG" "0000814405" "3" "50" "1" "47882339" "47882339" "subst" "0" "00000" "FOXE3_000060" "g.47882339A>G" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.352A>G p.(Ser118Gly) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.47416667A>G" "" "VUS" "ACMG" "0000814434" "0" "50" "1" "47882312" "47882312" "subst" "0" "00000" "FOXE3_000059" "g.47882312C>A" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416640C>A" "" "VUS" "ACMG" "0000814483" "0" "50" "1" "47882542" "47882542" "dup" "0" "00000" "FOXE3_000062" "g.47882542dup" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416870dup" "" "VUS" "ACMG" "0000848761" "0" "10" "1" "47882003" "47882003" "subst" "0.000690825" "02330" "FOXE3_000021" "g.47882003G>A" "" "" "" "FOXE3(NM_012186.3):c.16G>A (p.D6N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857530" "0" "50" "1" "47881992" "47881992" "subst" "0" "01943" "FOXE3_000063" "g.47881992C>T" "" "" "" "FOXE3(NM_012186.2):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857531" "0" "10" "1" "47882605" "47882605" "subst" "0.00758828" "02329" "FOXE3_000016" "g.47882605C>G" "" "" "" "FOXE3(NM_012186.3):c.618C>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000869873" "3" "90" "1" "47882231" "47882231" "subst" "9.51096E-5" "01164" "FOXE3_000010" "g.47882231A>G" "" "PMID: 19708017, 29136273, 29314435" "" "" "ACMG: PS4, PM3, PP1_MOD, PM2_SUP, PP3; sister also affected, co-segregation." "Germline" "yes" "" "" "" "" "" "VCV000667373.16" "pathogenic (recessive)" "ACMG" "0000883486" "0" "10" "1" "47882145" "47882145" "subst" "0" "02330" "FOXE3_000023" "g.47882145C>T" "" "" "" "FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883487" "0" "10" "1" "47882221" "47882221" "subst" "0.00140845" "02329" "FOXE3_000033" "g.47882221G>A" "" "" "" "FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883488" "0" "50" "1" "47882406" "47882406" "subst" "0" "02325" "FOXE3_000064" "g.47882406G>A" "" "" "" "FOXE3(NM_012186.3):c.419G>A (p.G140D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883489" "0" "10" "1" "47882588" "47882588" "subst" "0.00429931" "02330" "FOXE3_000028" "g.47882588G>A" "" "" "" "FOXE3(NM_012186.3):c.601G>A (p.V201M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911087" "0" "30" "1" "47882227" "47882227" "subst" "0.000215948" "02329" "FOXE3_000034" "g.47882227C>T" "" "" "" "FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921564" "1" "50" "1" "47882432" "47882432" "subst" "0" "00006" "FOXE3_000026" "g.47882432C>T" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.47416760C>T" "" "VUS" "" "0000921626" "0" "30" "1" "47882497" "47882497" "subst" "0.34783" "00006" "FOXE3_000012" "g.47882497C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs34082359" "0" "" "" "g.47416825C>T" "" "likely benign" "" "0000921627" "3" "30" "1" "47882605" "47882605" "subst" "0.00758828" "00006" "FOXE3_000016" "g.47882605C>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs189628587" "0" "" "" "g.47416933C>G" "" "likely benign" "" "0000921820" "0" "90" "1" "47882181" "47882183" "del" "0" "00006" "FOXE3_000065" "g.47882181_47882183del" "" "{PMID:Zhang 2018:30078984}" "" "179_181del" "" "Germline" "" "" "0" "" "" "g.47416509_47416511del" "" "pathogenic (dominant)" "" "0000923201" "0" "50" "1" "47882287" "47882287" "subst" "0" "02329" "FOXE3_000066" "g.47882287C>A" "" "" "" "FOXE3(NM_012186.3):c.300C>A (p.F100L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923202" "0" "10" "1" "47882410" "47882410" "subst" "0.00226441" "02329" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923203" "0" "10" "1" "47882885" "47882885" "subst" "0.00496888" "02326" "FOXE3_000019" "g.47882885A>G" "" "" "" "FOXE3(NM_012186.3):c.898A>G (p.S300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923204" "0" "10" "1" "47882885" "47882885" "subst" "0.00496888" "02329" "FOXE3_000019" "g.47882885A>G" "" "" "" "FOXE3(NM_012186.3):c.898A>G (p.S300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928181" "0" "30" "1" "47882227" "47882227" "subst" "0.000215948" "02330" "FOXE3_000034" "g.47882227C>T" "" "" "" "FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928182" "0" "30" "1" "47882425" "47882425" "subst" "5.06718E-5" "02326" "FOXE3_000067" "g.47882425G>A" "" "" "" "FOXE3(NM_012186.3):c.438G>A (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939316" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "04543" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0000939317" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "04543" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0000939321" "3" "90" "1" "47882276" "47882276" "subst" "2.0558E-5" "04543" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416604A>G" "" "pathogenic (recessive)" "" "0000939322" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "04543" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "father not available for analysis" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0000947267" "0" "30" "1" "47882038" "47882038" "subst" "0" "02330" "FOXE3_000068" "g.47882038T>C" "" "" "" "FOXE3(NM_012186.3):c.51T>C (p.P17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947268" "0" "10" "1" "47882410" "47882410" "subst" "0.00226441" "02326" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947269" "0" "30" "1" "47882818" "47882818" "subst" "0.000250179" "02329" "FOXE3_000030" "g.47882818C>T" "" "" "" "FOXE3(NM_012186.3):c.831C>T (p.G277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954916" "1" "10" "1" "47882574" "47882574" "subst" "0.00656968" "00006" "FOXE3_000015" "g.47882574G>C" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "" "0" "" "" "g.47416902G>C" "" "benign" "" "0000961085" "0" "30" "1" "47882800" "47882800" "subst" "0" "02329" "FOXE3_000069" "g.47882800G>A" "" "" "" "FOXE3(NM_012186.3):c.813G>A (p.L271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974020" "0" "50" "1" "47882312" "47882312" "subst" "0" "01804" "FOXE3_000070" "g.47882312C>T" "" "" "" "FOXE3(NM_012186.3):c.325C>T (p.(Arg109Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974021" "0" "50" "1" "47882558" "47882566" "del" "0" "01804" "FOXE3_000071" "g.47882558_47882566del" "" "" "" "FOXE3(NM_012186.3):c.571_579del (p.(Tyr191_Pro193del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991326" "0" "50" "1" "47882078" "47882078" "subst" "0" "01804" "FOXE3_000072" "g.47882078C>T" "" "" "" "FOXE3(NM_012186.2):c.91C>T (p.(Pro31Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991327" "0" "50" "1" "47882219" "47882219" "subst" "3.69375E-5" "01804" "FOXE3_000073" "g.47882219G>A" "" "" "" "FOXE3(NM_012186.2):c.232G>A (p.(Ala78Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007458" "0" "70" "1" "47882146" "47882186" "del" "0" "00006" "FOXE3_000075" "g.47882146_47882186del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1216242726" "0" "" "" "g.47416474_47416514del" "" "VUS" "" "0001024184" "0" "50" "1" "47882403" "47882403" "subst" "2.45734E-5" "02325" "FOXE3_000076" "g.47882403C>T" "" "" "" "FOXE3(NM_012186.3):c.416C>T (p.P139L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032114" "0" "50" "1" "47882397" "47882397" "subst" "2.45761E-5" "01804" "FOXE3_000077" "g.47882397G>A" "" "" "" "FOXE3(NM_012186.3):c.410G>A (p.(Gly137Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032115" "0" "10" "1" "47882916" "47882916" "subst" "0.0036151" "01804" "FOXE3_000031" "g.47882916G>A" "" "" "" "FOXE3(NM_012186.2):c.929G>A (p.G310D), FOXE3(NM_012186.3):c.929G>A (p.(Gly310Asp), p.G310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FOXE3 ## Count = 134 "{{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}}" "0000047852" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "1" "0000047853" "00008083" "90" "358" "0" "358" "0" "c.358C>G" "r.(?)" "p.(Arg120Gly)" "1" "0000047854" "00008083" "90" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "1" "0000047855" "00008083" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236Serfs*71)" "1" "0000096575" "00008083" "70" "942" "0" "942" "0" "c.942dup" "r.(?)" "p.(Leu315Alafs*117)" "1" "0000096576" "00008083" "30" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "1" "0000096787" "00008083" "30" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "1" "0000096788" "00008083" "10" "510" "0" "510" "0" "c.510C>T" "r.(=)" "p.(Ala170=)" "1" "0000096789" "00008083" "10" "618" "0" "618" "0" "c.618C>G" "r.(=)" "p.(Ala206=)" "1" "0000096790" "00008083" "10" "828" "0" "828" "0" "c.828C>G" "r.(=)" "p.(Pro276=)" "1" "0000096791" "00008083" "70" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "1" "0000096792" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096793" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "1" "0000096794" "00008083" "70" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "1" "0000096795" "00008083" "70" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(*320Argext*72)" "1" "0000096796" "00008083" "70" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Gly49Ala)" "1" "0000096797" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096798" "00008083" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" "1" "0000096799" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096801" "00008083" "70" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(*320Serext*72)" "1" "0000096802" "00008083" "70" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "1" "0000096803" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "1" "0000096804" "00008083" "70" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236Serfs*71)" "1" "0000096805" "00008083" "70" "557" "0" "557" "0" "c.557del" "r.(?)" "p.(Phe186Serfs*38)" "1" "0000096806" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096807" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096808" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096809" "00008083" "50" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "1" "0000096810" "00008083" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "1" "0000096813" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "1" "0000096814" "00008083" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Asp6Asn)" "1" "0000096815" "00008083" "10" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Ala45=)" "1" "0000096816" "00008083" "30" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Gly49Ala)" "1" "0000096817" "00008083" "10" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Pro53=)" "1" "0000096818" "00008083" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Leu92=)" "1" "0000096819" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "1" "0000096820" "00008083" "10" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Pro149Ser)" "1" "0000096821" "00008083" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ala170=)" "1" "0000096822" "00008083" "10" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "1" "0000096823" "00008083" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "1" "0000096824" "00008083" "10" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ala206=)" "1" "0000096825" "00008083" "10" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Leu261=)" "1" "0000096826" "00008083" "10" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Gly277=)" "1" "0000096827" "00008083" "10" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "1" "0000096828" "00008083" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "1" "0000245537" "00008083" "30" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "" "0000255905" "00008083" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Glu135Gly)" "" "0000276890" "00008083" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Ala78=)" "" "0000276891" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000276892" "00008083" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Gly277=)" "" "0000287840" "00008083" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "0000287841" "00008083" "30" "225" "0" "225" "0" "c.225G>T" "r.(?)" "p.(Ser75=)" "" "0000287842" "00008083" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Ala78=)" "" "0000287843" "00008083" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Ile80=)" "" "0000287844" "00008083" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000287846" "00008083" "30" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000287847" "00008083" "50" "828" "0" "828" "0" "c.828del" "r.(?)" "p.(Gly277AlafsTer30)" "" "0000320818" "00008083" "30" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000369314" "00008083" "50" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Arg65Leu)" "" "0000507778" "00008083" "50" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Phe13Val)" "" "0000507779" "00008083" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Glu43Lys)" "" "0000507782" "00008083" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "0000507783" "00008083" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ala170=)" "" "0000507784" "00008083" "50" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(His175Gln)" "" "0000507785" "00008083" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Gly181Glu)" "" "0000507787" "00008083" "50" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "" "0000507788" "00008083" "50" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "" "0000507789" "00008083" "10" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000507790" "00008083" "30" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "" "0000507791" "00008083" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236SerfsTer71)" "" "0000507792" "00008083" "10" "828" "0" "828" "0" "c.828C>G" "r.(?)" "p.(Pro276=)" "" "0000507793" "00008083" "30" "828" "0" "828" "0" "c.828C>G" "r.(?)" "p.(Pro276=)" "" "0000507795" "00008083" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "" "0000507796" "00008083" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "" "0000592090" "00008083" "90" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Glu103Lys)" "" "0000605817" "00008083" "30" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Gly181Glu)" "" "0000605818" "00008083" "30" "613" "0" "613" "0" "c.613T>G" "r.(?)" "p.(Ser205Ala)" "" "0000605819" "00008083" "30" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "" "0000620657" "00008083" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "0000654060" "00008083" "50" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Tyr144His)" "" "0000654061" "00008083" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Pro259=)" "" "0000675879" "00008083" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Asp6Asn)" "" "0000675880" "00008083" "30" "163" "0" "163" "0" "c.163C>A" "r.(?)" "p.(Pro55Thr)" "" "0000675881" "00008083" "30" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "" "0000675882" "00008083" "30" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "" "0000688198" "00008083" "50" "543" "0" "543" "0" "c.543G>T" "r.(?)" "p.(Gly181=)" "" "0000717543" "00008083" "30" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Ala45=)" "" "0000717544" "00008083" "30" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Thr54Met)" "" "0000717545" "00008083" "30" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Gly58=)" "" "0000717546" "00008083" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Lys168=)" "" "0000797393" "00008083" "70" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(*320Argext*72)" "" "0000799408" "00008083" "10" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000799409" "00008083" "30" "624" "0" "624" "0" "c.624G>C" "r.(?)" "p.(Pro208=)" "" "0000812664" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0000814375" "00008083" "50" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0000814405" "00008083" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Ser118Gly)" "" "0000814434" "00008083" "50" "325" "0" "325" "0" "c.325C>A" "r.(?)" "p.(Arg109Ser)" "" "0000814483" "00008083" "50" "555" "0" "555" "0" "c.555dup" "r.(?)" "p.(Phe186LeufsTer99)" "" "0000848761" "00008083" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Asp6Asn)" "" "0000857530" "00008083" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000857531" "00008083" "10" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ala206=)" "" "0000869873" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0000883486" "00008083" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "0000883487" "00008083" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Ala78=)" "" "0000883488" "00008083" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Gly140Asp)" "" "0000883489" "00008083" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "" "0000911087" "00008083" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Ile80=)" "" "0000921564" "00008083" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Pro149Ser)" "" "0000921626" "00008083" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ala170=)" "" "0000921627" "00008083" "30" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ala206=)" "" "0000921820" "00008083" "90" "194" "0" "196" "0" "c.194_196del" "r.(?)" "p.(Arg65del)" "" "0000923201" "00008083" "50" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Phe100Leu)" "" "0000923202" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000923203" "00008083" "10" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "" "0000923204" "00008083" "10" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "" "0000928181" "00008083" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Ile80=)" "" "0000928182" "00008083" "30" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(=)" "" "0000939316" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0000939317" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0000939321" "00008083" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "" "0000939322" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0000947267" "00008083" "30" "51" "0" "51" "0" "c.51T>C" "r.(?)" "p.(=)" "" "0000947268" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000947269" "00008083" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Gly277=)" "" "0000954916" "00008083" "10" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000961085" "00008083" "30" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(=)" "" "0000974020" "00008083" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Cys)" "" "0000974021" "00008083" "50" "571" "0" "579" "0" "c.571_579del" "r.(?)" "p.(Tyr191_Pro193del)" "" "0000991326" "00008083" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Pro31Ser)" "" "0000991327" "00008083" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001007458" "00008083" "70" "159" "0" "199" "0" "c.159_199del" "r.(?)" "p.(Thr54AlafsTer217)" "" "0001024184" "00008083" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0001032114" "00008083" "50" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Gly137Asp)" "" "0001032115" "00008083" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{variantid}}" "0000025009" "0000047852" "0000025010" "0000047853" "0000025010" "0000047854" "0000025010" "0000047855" "0000064919" "0000096575" "0000064921" "0000096576" "0000065131" "0000096787" "0000065132" "0000096788" "0000065133" "0000096789" "0000065134" "0000096790" "0000065135" "0000096791" "0000065136" "0000096792" "0000065137" "0000096793" "0000065138" "0000096794" "0000065139" "0000096795" "0000065140" "0000096796" "0000065141" "0000096797" "0000065142" "0000096798" "0000065143" "0000096799" "0000065145" "0000096801" "0000065146" "0000096802" "0000065147" "0000096803" "0000065147" "0000096804" "0000065148" "0000096805" "0000065149" "0000096806" "0000065150" "0000096807" "0000065151" "0000096808" "0000065152" "0000096809" "0000065153" "0000096810" "0000065156" "0000096813" "0000065157" "0000096814" "0000065158" "0000096815" "0000065159" "0000096816" "0000065160" "0000096817" "0000065161" "0000096818" "0000065162" "0000096819" "0000065163" "0000096820" "0000065164" "0000096821" "0000065165" "0000096822" "0000065166" "0000096823" "0000065167" "0000096824" "0000065168" "0000096825" "0000065169" "0000096826" "0000065170" "0000096827" "0000065171" "0000096828" "0000165589" "0000369314" "0000261963" "0000592090" "0000383332" "0000797393" "0000385575" "0000812664" "0000386695" "0000814375" "0000386725" "0000814405" "0000386754" "0000814434" "0000386754" "0000814483" "0000412526" "0000869873" "0000435542" "0000921564" "0000435596" "0000921626" "0000435596" "0000921627" "0000435658" "0000921820" "0000441566" "0000939316" "0000441567" "0000939317" "0000441571" "0000939321" "0000441572" "0000939322" "0000446578" "0000954916" "0000455351" "0001007458"