### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ZIC3)
# 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}}"
"ZIC3" "Zic family member 3" "X" "q24-q27.1" "unknown" "NG_008115.2" "UD_132118622384" "" "https://www.LOVD.nl/ZIC3" "" "1" "12874" "7547" "300265" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ZIC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-01-21 12:39:25" "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}}"
"00000334" "ZIC3" "Zic family member 3" "001" "NM_003413.3" "" "NP_003404.1" "" "" "" "-505" "3434" "1404" "136648346" "136654259" "00000" "2012-09-13 12:08:18" "" ""
## 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}}"
"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"
"02238" "HTX1" "heterotaxy, visceral, X-linked, type 1, (HTX-1, situs inversus/situs ambiguus)" "XLR" "306955" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02270" "VACTERLX" "VACTERL association with hydrocephaly, X-linked (VACTERLX)" "XLR" "314390" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"ZIC3" "02238"
"ZIC3" "02270"
## Individuals ## Do not remove or alter this header ##
## Count = 43
"{{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}}"
"00029038" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "M" "no" "France" "00y00m" "0" "yes" "" "European" "MC194"
"00029039" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "M" "no" "France" ">14y" "0" "yes" "liver transplantation" "gypsy" "MC069"
"00029040" "" "" "" "1" "" "01195" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "M" "no" "Benin" "00y00m" "0" "yes" "" "African" "MC177"
"00059056" "" "" "" "1" "" "00662" "" "" "M" "?" "" "" "0" "" "" "" ""
"00059057" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059058" "" "" "" "1" "" "00662" "" "" "M" "?" "" "" "0" "" "" "" ""
"00059059" "" "" "" "1" "" "00662" "" "" "M" "?" "" "" "0" "" "" "" ""
"00059060" "" "" "" "1" "" "00662" "" "" "M" "?" "" "" "0" "" "" "" ""
"00059061" "" "" "" "1" "" "00662" "" "" "M" "?" "" "" "0" "" "" "" ""
"00059062" "" "" "" "1" "" "00662" "" "" "M" "no" "Sweden" "" "0" "" "" "" ""
"00059063" "" "" "" "1" "" "00662" "" "" "M" "no" "Spain" "" "0" "" "" "" ""
"00059064" "" "" "" "1" "" "00662" "" "" "M" "no" "Hungary" "" "0" "" "" "" ""
"00059065" "" "" "" "1" "" "00662" "" "" "M" "no" "Netherlands" "" "0" "" "" "white" ""
"00059066" "" "" "" "1" "" "00662" "" "" "F" "no" "Finland" "" "0" "" "" "" ""
"00059067" "" "" "" "1" "" "00662" "" "" "M" "no" "Denmark" "" "0" "" "" "" ""
"00059071" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059072" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059073" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059074" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059075" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059076" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059077" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059078" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059079" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059080" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059081" "" "" "" "1" "" "00662" "" "" "?" "" "" "" "0" "" "" "" ""
"00059082" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059083" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059084" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059085" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059086" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059087" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059088" "" "" "" "1" "" "00662" "" "" "?" "" "" "" "0" "" "" "" ""
"00059089" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059093" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00059094" "" "" "" "1" "" "00662" "" "" "" "" "" "" "0" "" "" "" ""
"00059095" "" "" "" "1" "" "00662" "" "" "M" "" "" "" "0" "" "" "" ""
"00059096" "" "" "" "1" "" "00662" "" "" "F" "" "" "" "0" "" "" "" ""
"00294944" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00300273" "" "" "" "2" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "M" "no" "France" "00y" "0" "" "" "" "Pt6402"
"00300274" "" "" "00300273" "1" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "no" "France" "00y" "0" "" "" "" "Pt7146"
"00300275" "" "" "" "2" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "M" "no" "France" "00y" "0" "" "" "" "Pt7129"
"00300276" "" "" "00300275" "1" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "M" "no" "France" "00y01m?" "0" "" "" "" "Pt7883"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 46
"{{individualid}}" "{{diseaseid}}"
"00029038" "00152"
"00029039" "00152"
"00029040" "02238"
"00059056" "02238"
"00059057" "02238"
"00059058" "02238"
"00059059" "02238"
"00059060" "02238"
"00059061" "02238"
"00059062" "02238"
"00059063" "02238"
"00059064" "02238"
"00059065" "02238"
"00059066" "02238"
"00059067" "02238"
"00059071" "02238"
"00059072" "02238"
"00059073" "02238"
"00059074" "02238"
"00059075" "02238"
"00059076" "02238"
"00059077" "02238"
"00059078" "02238"
"00059079" "02238"
"00059080" "02238"
"00059081" "02238"
"00059082" "02238"
"00059083" "02238"
"00059084" "02238"
"00059085" "02238"
"00059086" "02238"
"00059087" "02238"
"00059088" "02238"
"00059089" "02238"
"00059093" "02238"
"00059094" "02238"
"00059095" "02238"
"00059096" "02238"
"00294944" "00198"
"00300273" "00152"
"00300273" "05128"
"00300274" "00152"
"00300275" "00152"
"00300275" "05128"
"00300276" "00152"
"00300276" "05128"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 02238, 02270, 05128
## Count = 43
"{{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}}"
"0000025068" "00152" "00029038" "01195" "Familial, X-linked recessive" "00y00m" "left superior vena cava draining to the coronary sinus\r\ncommon atrium\r\ncomplete atrioventricular septal defect\r\npulmonic stenosis\r\ntransposition of the great arteries with ventricular septal defect\r\nabdominal situs inversus\r\nright atrial isomerism\r\npulmonary situs ambiguus with bilateral morphologic right lungs\r\nasplenia" "" "" "" "" "" "" "" "" "" "" ""
"0000025070" "00152" "00029039" "01195" "Familial, X-linked recessive" "?" "interrupted vena cava with azygous continuation\r\npolysplenia\r\nabdominal situs inversus\r\nbiliary atresia extrahepatic" "" "" "" "" "" "" "" "" "" "" ""
"0000025071" "02238" "00029040" "01195" "Familial, X-linked recessive" "" "heterotaxy with complex cardiac malformations" "" "" "" "" "" "" "" "" "" "" ""
"0000045646" "02238" "00059056" "00662" "Familial, X-linked recessive" "" "Heterotaxy, gut malrotation, asplenia, ASD, CAVC, PA" "" "" "" "" "" "" "" "" "" "" ""
"0000045647" "02238" "00059057" "00662" "Familial" "" "ASD, VSD, DORV, PS, TGA, cholestatic liver disease, imperforate anus, bilat club feet, fused lumbar vertebrae." "" "" "" "" "" "" "" "" "" "" ""
"0000045648" "02238" "00059058" "00662" "Unknown" "" "AVSD, DORV, PAPVR, malrotation, transverse liver, asplenia." "" "" "" "" "" "" "" "" "" "" ""
"0000045649" "02238" "00059059" "00662" "Isolated (sporadic)" "" "d-TGA, PDA" "" "" "" "" "" "" "" "" "" "" ""
"0000045650" "02238" "00059060" "00662" "Isolated (sporadic)" "" "Heterotaxy, Midline liver, dextrocardia, CAVC, PA, DORV, TAPVR." "" "" "" "" "" "" "" "" "" "" ""
"0000045651" "02238" "00059061" "00662" "Isolated (sporadic)" "" "Heterotaxy, dextrocardia, VSD, ventriculomegaly, no stomach." "" "" "" "" "" "" "" "" "" "" ""
"0000045652" "02238" "00059062" "00662" "Familial, X-linked recessive" "" "Two male fetuses with heterotaxy, one living male with heterotaxy and caudal regression syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000045653" "02238" "00059063" "00662" "Familial, X-linked recessive" "" "Three male fetuses with heterotaxy syndrome." "" "" "" "" "" "" "" "" "" "" ""
"0000045654" "02238" "00059064" "00662" "Unknown" "" "Two male fetuses with heterotaxy syndrome." "" "" "" "" "" "" "" "" "" "" ""
"0000045655" "02238" "00059065" "00662" "Familial, X-linked recessive" "" "Male fetus with complex CHD (DORV, TGA, AVSD) and isomerism." "" "" "" "" "" "" "" "" "" "" ""
"0000045656" "02238" "00059066" "00662" "Familial, X-linked recessive" "" "Asymptomatic, familial history of male heterotaxy (2 brothers died of heterotaxy)" "" "" "" "" "" "" "" "" "" "" ""
"0000045657" "02238" "00059067" "00662" "Familial, X-linked recessive" "" "Two male fetuses with heterotaxy syndrome." "" "" "" "" "" "" "" "" "" "" ""
"0000045661" "02238" "00059071" "00662" "Familial" "" "Female with AVSD, pulmonary atresia and TAPVR, also abdominal malrotation." "" "" "" "" "" "" "" "" "" "" ""
"0000045662" "02238" "00059072" "00662" "Isolated (sporadic)" "" "Congenital heart disease." "" "" "" "" "" "" "" "" "" "" ""
"0000045663" "02238" "00059073" "00662" "Familial" "" "TGA" "" "" "" "" "" "" "" "" "" "" ""
"0000045664" "02238" "00059074" "00662" "Isolated (sporadic)" "" "PA, VSD, ASD." "" "" "" "" "" "" "" "" "" "" ""
"0000045665" "02238" "00059075" "00662" "Familial" "" "Asymptomatic, familial history of male dextrocardia and heterotaxy." "" "" "" "" "" "" "" "" "" "" ""
"0000045666" "02238" "00059076" "00662" "Familial, X-linked recessive" "" "Two male deaths with heterotaxy" "" "" "" "" "" "" "" "" "" "" ""
"0000045667" "02238" "00059077" "00662" "Familial" "" "Three males with situs ambiguous." "" "" "" "" "" "" "" "" "" "" ""
"0000045668" "02238" "00059078" "00662" "Familial" "" "Heterotaxy, VSD, L hip dysplasia." "" "" "" "" "" "" "" "" "" "" ""
"0000045669" "02238" "00059079" "00662" "Familial" "" "Two male brothers with situs ambiguous and anal malformations." "" "" "" "" "" "" "" "" "" "" ""
"0000045670" "02238" "00059080" "00662" "Familial" "" "Abdominal situs inversus, asplenia, CAVC, PA, d-TGA." "" "" "" "" "" "" "" "" "" "" ""
"0000045671" "02238" "00059081" "00662" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000045672" "02238" "00059082" "00662" "Familial" "" "Situs ambiguous, sacral agenesis." "" "" "" "" "" "" "" "" "" "" ""
"0000045673" "02238" "00059083" "00662" "Familial" "" "d-TGA, single ventricle, PA, polysplenia." "" "" "" "" "" "" "" "" "" "" ""
"0000045674" "02238" "00059084" "00662" "Familial" "" "HLHS, right atrial isomerism, TGA, aplenia, malrotation webbed neck, abnormal liver lobation." "" "" "" "" "" "" "" "" "" "" ""
"0000045675" "02238" "00059085" "00662" "Familial" "" "Asplenia, CAVC, PA." "" "" "" "" "" "" "" "" "" "" ""
"0000045676" "02238" "00059086" "00662" "Familial" "" "Single ventricle, PS, DORV, asplenia, horseshoe kidney, low-set ears, abnormal situs." "" "" "" "" "" "" "" "" "" "" ""
"0000045677" "02238" "00059087" "00662" "Familial" "" "Hypoplastic LV, d-TGA, DORV, VSD, ventricular inversion, heterotaxy, gut malrotation, polysplenia, midline liver." "" "" "" "" "" "" "" "" "" "" ""
"0000045678" "02238" "00059088" "00662" "Familial" "" "Isolated CHD, HLHS, PS, l-TGA, DILV, ASD, DORV, heterotaxy, dextrocardia, d-TGA, TA." "" "" "" "" "" "" "" "" "" "" ""
"0000045679" "02238" "00059089" "00662" "Unknown" "" "d-TGA" "" "" "" "" "" "" "" "" "" "" ""
"0000045683" "02238" "00059093" "00662" "Familial" "" "ASD type II, VSD, AVSD, situs inversus totalis, dextrocardia." "" "" "" "" "" "" "" "" "" "" ""
"0000045684" "02238" "00059094" "00662" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000045685" "02238" "00059095" "00662" "Unknown" "" "Dextroposition heart, bilat superior vena cava, oesophageal atresia, anal atresia, multicystic dysplasia." "" "" "" "" "" "" "" "" "" "" ""
"0000045686" "02238" "00059096" "00662" "Unknown" "" "Heterotaxy" "" "" "" "" "" "" "" "" "" "" ""
"0000227572" "00152" "00300273" "01195" "Familial, X-linked" "00y" "Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVventriculo canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus" "" "00y" "00y" "" "" "" "" "" "" "" ""
"0000227573" "05128" "00300273" "01195" "Familial, X-linked" "00y" "Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVentricular canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch" "" "00y" "00y" "" "" "" "" "" "" "" ""
"0000227574" "00152" "00300274" "01195" "Familial, X-linked" "00y" "Muscular Ventricular Septal Defect, Hypoplastic Left Ventricle, Pulmonary Atresia, L-Transposition of the Great Arteries" "00y" "00y" "00y" "" "" "" "" "" "" "" ""
"0000227575" "00152" "00300275" "01195" "Familial, autosomal recessive" "00y" "Complete AtrioVentricular canal, double outlet right ventricle, pulmonary trunk hypoplasia, Dextrocardia; stomach on the right; gall bladder of the left" "00y" "00y" "" "" "" "" "" "" "" "" ""
"0000227577" "05128" "00300275" "01195" "Familial, autosomal recessive" "" "Dextrocardia; stomach on the right; gall bladder of the left; Complete AtrioVentriculo canal, double outlet right ventricle, pulmonary trunk hypoplasia" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 43
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000029082" "00029038" "1" "01195" "01195" "2015-01-19 16:14:13" "" "" "SEQ" "DNA" "thymus" ""
"0000029083" "00029039" "1" "01195" "01195" "2015-01-19 16:45:38" "" "" "SEQ" "DNA" "blood" ""
"0000029084" "00029040" "1" "01195" "01195" "2015-01-19 17:14:17" "" "" "SEQ" "DNA" "thymus" ""
"0000059022" "00059056" "1" "00662" "00662" "2016-02-19 11:58:14" "" "" "SEQ" "DNA" "" ""
"0000059023" "00059057" "1" "00662" "00662" "2016-02-19 13:46:31" "" "" "SEQ" "DNA" "" ""
"0000059024" "00059058" "1" "00662" "00662" "2016-02-19 13:53:58" "" "" "SEQ" "DNA" "" ""
"0000059025" "00059059" "1" "00662" "00662" "2016-02-19 14:31:52" "" "" "SEQ" "DNA" "" ""
"0000059026" "00059060" "1" "00662" "00662" "2016-02-19 14:38:35" "" "" "SEQ" "DNA" "" ""
"0000059027" "00059061" "1" "00662" "00662" "2016-02-19 14:43:50" "" "" "SEQ" "DNA" "" ""
"0000059028" "00059062" "1" "00662" "00662" "2016-02-19 14:52:34" "" "" "SEQ" "DNA" "" ""
"0000059029" "00059063" "1" "00662" "00662" "2016-02-19 14:58:30" "" "" "SEQ" "DNA" "" ""
"0000059030" "00059064" "1" "00662" "00662" "2016-02-19 15:09:03" "" "" "SEQ" "DNA" "" ""
"0000059031" "00059065" "1" "00662" "00662" "2016-02-19 15:30:15" "" "" "SEQ" "DNA" "" ""
"0000059032" "00059066" "1" "00662" "00662" "2016-02-19 15:37:30" "" "" "SEQ" "DNA" "" ""
"0000059033" "00059067" "1" "00662" "00662" "2016-02-19 15:42:41" "" "" "SEQ" "DNA" "" ""
"0000059038" "00059071" "1" "00662" "00662" "2016-02-20 16:16:50" "" "" "SEQ" "DNA" "" ""
"0000059039" "00059072" "1" "00662" "00662" "2016-02-20 16:22:51" "" "" "SEQ" "DNA" "" ""
"0000059040" "00059073" "1" "00662" "00662" "2016-02-20 16:28:09" "" "" "SEQ" "DNA" "" ""
"0000059041" "00059074" "1" "00662" "00662" "2016-02-20 16:33:21" "" "" "SEQ" "DNA" "" ""
"0000059042" "00059075" "1" "00662" "00662" "2016-02-20 16:43:21" "" "" "SEQ" "DNA" "" ""
"0000059043" "00059076" "1" "00662" "00662" "2016-02-20 16:49:03" "" "" "SEQ" "DNA" "" ""
"0000059044" "00059077" "1" "00662" "00662" "2016-02-20 16:53:38" "" "" "SEQ" "DNA" "" ""
"0000059045" "00059078" "1" "00662" "00662" "2016-02-20 17:03:21" "" "" "SEQ" "DNA" "" ""
"0000059046" "00059079" "1" "00662" "00662" "2016-02-20 17:10:39" "" "" "SEQ" "DNA" "" ""
"0000059047" "00059080" "1" "00662" "00662" "2016-02-21 08:03:28" "" "" "SEQ" "DNA" "" ""
"0000059048" "00059081" "1" "00662" "00662" "2016-02-21 08:08:34" "" "" "SEQ" "DNA" "" ""
"0000059049" "00059082" "1" "00662" "00662" "2016-02-21 08:12:53" "" "" "SEQ" "DNA" "" ""
"0000059050" "00059083" "1" "00662" "00662" "2016-02-21 08:17:56" "" "" "SEQ" "DNA" "" ""
"0000059051" "00059084" "1" "00662" "00662" "2016-02-21 08:25:57" "" "" "SEQ" "DNA" "" ""
"0000059052" "00059085" "1" "00662" "00662" "2016-02-21 10:45:56" "" "" "SEQ" "DNA" "" ""
"0000059053" "00059086" "1" "00662" "00662" "2016-02-21 10:50:56" "" "" "SEQ" "DNA" "" ""
"0000059054" "00059087" "1" "00662" "00662" "2016-02-21 10:55:57" "" "" "SEQ" "DNA" "" ""
"0000059055" "00059088" "1" "00662" "00662" "2016-02-21 11:03:14" "" "" "SEQ" "DNA" "" ""
"0000059056" "00059089" "1" "00662" "00662" "2016-02-21 11:21:31" "" "" "SEQ" "DNA" "" ""
"0000059060" "00059093" "1" "00662" "00662" "2016-02-21 14:19:51" "" "" "SEQ" "DNA" "" ""
"0000059061" "00059094" "1" "00662" "00662" "2016-02-21 14:59:59" "" "" "SEQ" "DNA" "" ""
"0000059062" "00059095" "1" "00662" "00662" "2016-02-21 15:08:15" "" "" "SEQ" "DNA" "" ""
"0000059063" "00059096" "1" "00662" "00662" "2016-02-21 15:12:21" "" "" "SEQ" "DNA" "" ""
"0000296112" "00294944" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000301391" "00300273" "1" "01195" "01195" "2020-04-26 13:45:37" "" "" "SEQ;SEQ-NG-I" "DNA" "Thymus" "Panel of 348 genes"
"0000301392" "00300274" "1" "01195" "01195" "2020-04-26 13:58:16" "" "" "SEQ" "DNA" "Blood" ""
"0000301393" "00300275" "1" "01195" "01195" "2020-04-26 14:10:07" "" "" "SEQ" "DNA" "Amniocentesis" "Panel of 461 genes"
"0000301394" "00300276" "1" "01195" "01195" "2020-04-26 14:24:01" "" "" "SEQ" "DNA" "Blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 46
"{{screeningid}}" "{{geneid}}"
"0000029082" "GATA4"
"0000029082" "NKX2-5"
"0000029082" "ZIC3"
"0000029083" "GATA4"
"0000029083" "NKX2-5"
"0000029083" "ZIC3"
"0000029084" "GATA4"
"0000029084" "NKX2-5"
"0000029084" "ZIC3"
"0000059022" "ZIC3"
"0000059023" "ZIC3"
"0000059024" "ZIC3"
"0000059025" "ZIC3"
"0000059026" "ZIC3"
"0000059027" "ZIC3"
"0000059028" "ZIC3"
"0000059029" "ZIC3"
"0000059030" "ZIC3"
"0000059031" "ZIC3"
"0000059032" "ZIC3"
"0000059033" "ZIC3"
"0000059038" "ZIC3"
"0000059039" "ZIC3"
"0000059040" "ZIC3"
"0000059041" "ZIC3"
"0000059042" "ZIC3"
"0000059043" "ZIC3"
"0000059044" "ZIC3"
"0000059045" "ZIC3"
"0000059046" "ZIC3"
"0000059047" "ZIC3"
"0000059048" "ZIC3"
"0000059049" "ZIC3"
"0000059050" "ZIC3"
"0000059051" "ZIC3"
"0000059052" "ZIC3"
"0000059053" "ZIC3"
"0000059054" "ZIC3"
"0000059055" "ZIC3"
"0000059056" "ZIC3"
"0000059060" "ZIC3"
"0000059061" "ZIC3"
"0000059062" "ZIC3"
"0000059063" "ZIC3"
"0000301392" "ZIC3"
"0000301394" "ZIC3"
## 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 = 97
"{{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}}"
"0000052432" "21" "70" "X" "136649739" "136649739" "subst" "0" "01195" "ZIC3_000004" "g.136649739T>G" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "" "" "Germline" "yes" "" "0" "" "" "g.137567580T>G" "" "likely pathogenic" ""
"0000052434" "21" "70" "X" "136649726" "136649726" "subst" "5.59578E-6" "01195" "ZIC3_000003" "g.136649726G>C" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "" "" "Germline" "yes" "" "0" "" "" "g.137567567G>C" "" "likely pathogenic" ""
"0000052435" "21" "70" "X" "136649091" "136649092" "dup" "0" "01195" "ZIC3_000002" "g.136649091_136649092dup" "1/156 patients" "{PMID:El Malti 2016:26014430}, {DOI:El Malti 2016:10.1038/ejhg.2015.105}" "" "241_242dupTA" "" "Germline" "yes" "" "0" "" "" "g.137566932_137566933dup" "" "likely pathogenic" ""
"0000089822" "0" "70" "X" "136648868" "136648869" "delins" "0" "00662" "ZIC3_000005" "g.136648868_136648869delinsA" "" "{PMID:Cowan 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137566709_137566710delinsA" "" "likely pathogenic" ""
"0000089823" "0" "00" "X" "136648978" "136648978" "subst" "0" "00662" "ZIC3_000006" "g.136648978C>A" "" "{PMID:Ware et al. 2004:14681828}" "" "" "" "Germline" "" "" "0" "" "" "g.137566819C>A" "" "" ""
"0000089824" "0" "00" "X" "136648998" "136648998" "del" "0" "00662" "ZIC3_000007" "g.136648998del" "" "{PMID: Ma et al. 2012:21864452}" "" "" "" "Germline" "" "" "0" "" "" "g.137566839del" "" "" ""
"0000089825" "0" "00" "X" "136649176" "136649176" "subst" "2.92854E-5" "00662" "ZIC3_000008" "g.136649176C>G" "" "{PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567017C>G" "" "" ""
"0000089826" "0" "00" "X" "136649313" "136649313" "subst" "0" "00662" "ZIC3_000009" "g.136649313G>T" "" "{PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567154G>T" "" "" ""
"0000089827" "0" "00" "X" "136649445" "136649460" "del" "0" "00662" "ZIC3_000010" "g.136649445_136649460del" "" "{PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567286_137567301del" "" "" ""
"0000089828" "21" "99" "X" "136649530" "136649530" "dup" "0" "00662" "ZIC3_000011" "g.136649530dup" "" "Paulussen et al., submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.137567371dup" "" "pathogenic" ""
"0000089829" "21" "99" "X" "136649692" "136649693" "del" "0" "00662" "ZIC3_000012" "g.136649692_136649693del" "" "Paulussen et al., submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.137567533_137567534del" "" "pathogenic" ""
"0000089830" "20" "99" "X" "136649719" "136649719" "del" "0" "00662" "ZIC3_000013" "g.136649719del" "" "Paulussen et al., submitted" "" "" "" "Germline" "" "" "0" "" "" "g.137567560del" "" "pathogenic" ""
"0000089831" "21" "99" "X" "136649911" "136649911" "subst" "0" "00662" "ZIC3_000014" "g.136649911G>A" "" "Paulussen et al. submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.137567752G>A" "" "pathogenic" ""
"0000089832" "0" "99" "X" "136651063" "136651063" "subst" "0" "00662" "ZIC3_000015" "g.136651063G>T" "" "Paulussen et al. submitted" "" "" "" "Germline" "" "" "0" "" "" "g.137568904G>T" "" "pathogenic" ""
"0000089833" "21" "99" "X" "136651111" "136651111" "subst" "0" "00662" "ZIC3_000016" "g.136651111A>C" "" "Paulussen et al. submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.137568952A>C" "" "pathogenic" ""
"0000089837" "21" "00" "X" "136651204" "136651204" "subst" "0" "00662" "ZIC3_000017" "g.136651204T>C" "" "{PMID:Ma et al. 2012:21864452}" "" "" "" "Germline" "" "" "0" "" "" "g.137569045T>C" "" "" ""
"0000089838" "0" "00" "X" "136651213" "136651213" "subst" "0" "00662" "ZIC3_000018" "g.136651213A>G" "" "{PMID:Ware et al. 2004:14681828}" "" "" "" "Germline" "" "" "0" "" "" "g.137569054A>G" "" "" ""
"0000089839" "0" "00" "X" "136651222" "136651222" "subst" "0" "00662" "ZIC3_000019" "g.136651222A>T" "" "{PMID:Megarbane et al. 2000:10980576}" "" "" "" "Germline" "" "" "0" "" "" "g.137569063A>T" "" "" ""
"0000089840" "0" "00" "X" "136652165" "136652165" "subst" "0" "00662" "ZIC3_000020" "g.136652165C>G" "" "{PMID: Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137570006C>G" "" "" ""
"0000089841" "0" "00" "X" "136649898" "136649898" "subst" "0" "00662" "ZIC3_000021" "g.136649898A>G" "" "{PMID:D\'Alessandro et al. 2013:22171628}" "" "" "" "Germline" "" "" "0" "" "" "g.137567739A>G" "" "" ""
"0000089842" "0" "00" "X" "136649822" "136649823" "ins" "0" "00662" "ZIC3_000022" "g.136649822_136649823insTT" "" "{PMID:Gebbia et al. 1997:9354794}" "" "" "" "Germline" "" "" "0" "" "" "g.137567663_137567664insTT" "" "" ""
"0000089843" "0" "00" "X" "136649818" "136649818" "subst" "0" "00662" "ZIC3_000023" "g.136649818C>T" "" "{PMID:Gebbia et al. 1997:9354794}" "" "" "" "Germline" "" "" "0" "" "" "g.137567659C>T" "" "" ""
"0000089844" "0" "00" "X" "136649802" "136649802" "subst" "0" "00662" "ZIC3_000024" "g.136649802C>A" "" "{PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567643C>A" "" "" ""
"0000089845" "0" "00" "X" "136649724" "136649724" "subst" "0" "00662" "ZIC3_000025" "g.136649724C>T" "" "{PMID: Gebbia et al. 1997:9354794}" "" "" "" "Germline" "" "" "0" "" "" "g.137567565C>T" "" "" ""
"0000089846" "0" "00" "X" "136649716" "136649716" "dup" "0" "00662" "ZIC3_000026" "g.136649716dup" "" "{PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567557dup" "" "" ""
"0000089847" "0" "00" "X" "136649707" "136649707" "subst" "0" "00662" "ZIC3_000027" "g.136649707A>G" "" "{PMID:Gebbia et al. 1997:9354794}" "" "" "" "Germline" "" "" "0" "" "" "g.137567548A>G" "" "" ""
"0000089848" "0" "99" "X" "136649654" "136649654" "subst" "0" "00662" "ZIC3_000028" "g.136649654C>A" "" "{PMID:Gebbia et al. 1997:9354794}" "" "" "" "Germline" "" "" "0" "" "" "g.137567495C>A" "" "pathogenic" ""
"0000089849" "0" "00" "X" "136649613" "136649613" "subst" "0" "00662" "ZIC3_000029" "g.136649613T>G" "" "{PMID: Chhin et al. 2007:17295247}" "" "" "" "Germline" "" "" "0" "" "" "g.137567454T>G" "" "" ""
"0000089850" "0" "00" "X" "136649608" "136649608" "subst" "0" "00662" "ZIC3_000030" "g.136649608G>C" "" "{PMID:Ware et al. 2004:14681828}" "" "" "" "Germline" "" "" "0" "" "" "g.137567449G>C" "" "" ""
"0000089851" "0" "99" "X" "136649605" "136649605" "subst" "0" "00662" "ZIC3_000031" "g.136649605C>A" "" "{PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567446C>A" "" "pathogenic" ""
"0000089852" "0" "00" "X" "136649595" "136649595" "subst" "0" "00662" "ZIC3_000032" "g.136649595C>T" "" "{PMID:Ware te al. 2004:14681828}" "" "" "" "Germline" "" "" "0" "" "" "g.137567436C>T" "" "" ""
"0000089853" "0" "00" "X" "136649499" "136649499" "subst" "0" "00662" "ZIC3_000033" "g.136649499C>A" "2" "{PMID:Ware et al.2004:14681828}, {PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137567340C>A" "" "" ""
"0000089854" "0" "00" "X" "136648899" "136648899" "subst" "0.00259548" "00662" "ZIC3_000034" "g.136648899G>T" "4" "{PMID:Deluca et al. 2010:19933292}, {PMID:D\'Alessandro et al. 2013:23427188}, {PMID:Cowan et al. 2014:24123890}" "" "" "" "Germline" "" "" "0" "" "" "g.137566740G>T" "" "" ""
"0000089855" "0" "00" "X" "136648948" "136648948" "subst" "0.000109054" "00662" "ZIC3_000035" "g.136648948C>T" "" "{PMID:D\'Alessandro et al. 2013:23427188}" "" "" "" "Germline" "" "" "0" "" "" "g.137566789C>T" "" "" ""
"0000089859" "0" "00" "X" "136649003" "136649011" "del" "0" "00662" "ZIC3_000036" "g.136649003_136649011del" "" "Paulussen et al., submitted" "" "" "" "Germline" "" "" "0" "" "" "g.137566844_137566852del" "" "" ""
"0000089860" "0" "00" "X" "136649009" "136649011" "dup" "0" "00662" "ZIC3_000037" "g.136649009_136649011dup" "4" "{PMID:D\'Alessandro et al. 2013:23427188}, Paulussen et al. submitted" "" "" "" "Germline" "" "" "0" "" "" "g.137566850_137566852dup" "" "" ""
"0000089861" "0" "00" "X" "136649010" "136649015" "dup" "0" "00662" "ZIC3_000038" "g.136649010_136649015dup" "" "{PMID:Wessels et al. 2010:20452998}" "" "" "" "De novo" "" "" "0" "" "" "g.137566851_137566856dup" "" "" ""
"0000089862" "0" "00" "X" "136649010" "136649018" "dup" "0" "00662" "ZIC3_000039" "g.136649010_136649018dup" "" "{PMID:D\'Alessandro et al. 2013:23427188}" "" "" "" "Germline" "" "" "0" "" "" "g.137566851_137566859dup" "" "" ""
"0000315545" "0" "30" "X" "136648899" "136648899" "subst" "0.00259548" "02326" "ZIC3_000034" "g.136648899G>T" "" "" "" "ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137566740G>T" "" "likely benign" ""
"0000315546" "0" "30" "X" "136649426" "136649426" "subst" "1.71431E-5" "02326" "ZIC3_000043" "g.136649426G>C" "" "" "" "ZIC3(NM_003413.4):c.576G>C (p.L192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137567267G>C" "" "likely benign" ""
"0000320200" "0" "50" "X" "136649003" "136649011" "del" "0" "01943" "ZIC3_000036" "g.136649003_136649011del" "" "" "" "ZIC3(NM_003413.3):c.153_161delCGCCGCCGC (p.A53_A55del), ZIC3(NM_003413.4):c.153_161delCGCCGCCGC (p.A53_A55del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137566844_137566852del" "" "VUS" ""
"0000320202" "0" "30" "X" "136649120" "136649120" "subst" "0.000207762" "01943" "ZIC3_000042" "g.136649120C>T" "" "" "" "ZIC3(NM_003413.3):c.270C>T (p.H90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137566961C>T" "" "likely benign" ""
"0000320203" "0" "30" "X" "136648899" "136648899" "subst" "0.00259548" "01943" "ZIC3_000034" "g.136648899G>T" "" "" "" "ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137566740G>T" "" "likely benign" ""
"0000320204" "0" "10" "X" "136649762" "136649762" "subst" "0.00102426" "01943" "ZIC3_000045" "g.136649762G>A" "" "" "" "ZIC3(NM_003413.3):c.912G>A (p.R304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137567603G>A" "" "benign" ""
"0000335692" "0" "30" "X" "136648899" "136648899" "subst" "0.00259548" "01804" "ZIC3_000034" "g.136648899G>T" "" "" "" "ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137566740G>T" "" "likely benign" ""
"0000335694" "0" "50" "X" "136649528" "136649528" "subst" "0" "01804" "ZIC3_000044" "g.136649528G>A" "" "" "" "ZIC3(NM_003413.3):c.678G>A (p.(Met226Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137567369G>A" "" "VUS" ""
"0000347938" "0" "30" "X" "136649202" "136649202" "subst" "0" "02327" "ZIC3_000047" "g.136649202T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137567043T>C" "" "likely benign" ""
"0000573802" "0" "30" "X" "136648834" "136648834" "subst" "7.3527E-5" "02327" "ZIC3_000048" "g.136648834C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566675C>G" "" "likely benign" ""
"0000573805" "0" "30" "X" "136648987" "136648987" "subst" "0" "01943" "ZIC3_000051" "g.136648987C>G" "" "" "" "ZIC3(NM_003413.3):c.137C>G (p.A46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566828C>G" "" "likely benign" ""
"0000573806" "0" "50" "X" "136648998" "136648998" "subst" "0" "02325" "ZIC3_000052" "g.136648998G>T" "" "" "" "ZIC3(NM_003413.4):c.148G>T (p.A50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566839G>T" "" "VUS" ""
"0000573807" "0" "30" "X" "136649003" "136649011" "del" "0" "02327" "ZIC3_000036" "g.136649003_136649011del" "" "" "" "ZIC3(NM_003413.3):c.153_161delCGCCGCCGC (p.A53_A55del), ZIC3(NM_003413.4):c.153_161delCGCCGCCGC (p.A53_A55del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566844_137566852del" "" "likely benign" ""
"0000573808" "0" "50" "X" "136649003" "136649011" "del" "0" "02325" "ZIC3_000036" "g.136649003_136649011del" "" "" "" "ZIC3(NM_003413.3):c.153_161delCGCCGCCGC (p.A53_A55del), ZIC3(NM_003413.4):c.153_161delCGCCGCCGC (p.A53_A55del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566844_137566852del" "" "VUS" ""
"0000573809" "0" "50" "X" "136649007" "136649015" "del" "0" "02327" "ZIC3_000053" "g.136649007_136649015del" "" "" "" "ZIC3(NM_003413.3):c.154_162del (p.(Ala53_Ala55del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566848_137566856del" "" "VUS" ""
"0000573810" "0" "30" "X" "136649009" "136649011" "dup" "0" "01943" "ZIC3_000037" "g.136649009_136649011dup" "" "" "" "ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566850_137566852dup" "" "likely benign" ""
"0000573811" "0" "30" "X" "136649009" "136649011" "dup" "0" "02326" "ZIC3_000037" "g.136649009_136649011dup" "" "" "" "ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566850_137566852dup" "" "likely benign" ""
"0000573812" "0" "10" "X" "136649009" "136649011" "dup" "0" "02325" "ZIC3_000037" "g.136649009_136649011dup" "" "" "" "ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566850_137566852dup" "" "benign" ""
"0000573813" "0" "30" "X" "136649012" "136649012" "subst" "0.00221172" "02327" "ZIC3_000054" "g.136649012T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566853T>C" "" "likely benign" ""
"0000573817" "0" "50" "X" "136649181" "136649181" "subst" "0" "02327" "ZIC3_000058" "g.136649181G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567022G>A" "" "VUS" ""
"0000573818" "0" "30" "X" "136649499" "136649499" "subst" "0.0014584" "01804" "ZIC3_000059" "g.136649499C>G" "" "" "" "ZIC3(NM_003413.3):c.649C>G (p.(Pro217Ala)), ZIC3(NM_003413.4):c.649C>G (p.P217A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567340C>G" "" "likely benign" ""
"0000573819" "0" "10" "X" "136649499" "136649499" "subst" "0.0014584" "02326" "ZIC3_000059" "g.136649499C>G" "" "" "" "ZIC3(NM_003413.3):c.649C>G (p.(Pro217Ala)), ZIC3(NM_003413.4):c.649C>G (p.P217A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567340C>G" "" "benign" ""
"0000573821" "0" "90" "X" "136649692" "136649693" "del" "0" "02327" "ZIC3_000012" "g.136649692_136649693del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567533_137567534del" "" "pathogenic" ""
"0000573822" "0" "10" "X" "136649711" "136649711" "subst" "0.00187471" "02327" "ZIC3_000061" "g.136649711G>A" "" "" "" "ZIC3(NM_003413.4):c.861G>A (p.V287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567552G>A" "" "benign" ""
"0000573823" "0" "90" "X" "136649719" "136649719" "del" "0" "02327" "ZIC3_000013" "g.136649719del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567560del" "" "pathogenic" ""
"0000573824" "0" "30" "X" "136649770" "136649770" "subst" "0" "01804" "ZIC3_000062" "g.136649770A>G" "" "" "" "ZIC3(NM_003413.3):c.920A>G (p.(Lys307Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567611A>G" "" "likely benign" ""
"0000573825" "0" "70" "X" "136649911" "136649911" "subst" "0" "02327" "ZIC3_000014" "g.136649911G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567752G>A" "" "likely pathogenic" ""
"0000573826" "0" "90" "X" "136651063" "136651063" "subst" "0" "02327" "ZIC3_000015" "g.136651063G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137568904G>T" "" "pathogenic" ""
"0000573827" "0" "90" "X" "136651111" "136651111" "subst" "0" "02327" "ZIC3_000016" "g.136651111A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137568952A>C" "" "pathogenic" ""
"0000573828" "0" "50" "X" "136659329" "136659329" "subst" "0" "02327" "ZIC3_000063" "g.136659329C>T" "" "" "" "ZIC3(NM_001330661.1):c.1273C>T (p.L425F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137577170C>T" "" "VUS" ""
"0000619039" "0" "50" "X" "136649003" "136649011" "dup" "0" "02327" "ZIC3_000064" "g.136649003_136649011dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566844_137566852dup" "" "VUS" ""
"0000619040" "0" "50" "X" "136649006" "136649011" "dup" "0" "02327" "ZIC3_000065" "g.136649006_136649011dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566847_137566852dup" "" "VUS" ""
"0000619041" "0" "30" "X" "136649007" "136649015" "del" "0" "01804" "ZIC3_000053" "g.136649007_136649015del" "" "" "" "ZIC3(NM_003413.3):c.154_162del (p.(Ala53_Ala55del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566848_137566856del" "" "likely benign" ""
"0000619042" "0" "30" "X" "136649009" "136649011" "dup" "0" "02327" "ZIC3_000037" "g.136649009_136649011dup" "" "" "" "ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137566850_137566852dup" "" "likely benign" ""
"0000619043" "0" "30" "X" "136649457" "136649457" "subst" "0.000257187" "02326" "ZIC3_000066" "g.136649457G>A" "" "" "" "ZIC3(NM_003413.4):c.607G>A (p.A203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567298G>A" "" "likely benign" ""
"0000619044" "0" "90" "X" "136649530" "136649530" "dup" "0" "02327" "ZIC3_000011" "g.136649530dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137567371dup" "" "pathogenic" ""
"0000619045" "0" "50" "X" "136651160" "136651160" "subst" "0" "02326" "ZIC3_000067" "g.136651160C>G" "" "" "" "ZIC3(NM_003413.4):c.1160C>G (p.P387R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137569001C>G" "" "VUS" ""
"0000652801" "1" "50" "X" "136648899" "136648899" "subst" "0.00259548" "03575" "ZIC3_000034" "g.136648899G>T" "1/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs147232392}" "Germline" "" "rs147232392" "0" "" "" "g.137566740G>T" "" "VUS" ""
"0000664321" "21" "70" "X" "136649141" "136649145" "del" "0" "01195" "ZIC3_000068" "g.136649141_136649145del" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "" "" "" "" "g.137566982_137566986del" "" "pathogenic" ""
"0000664322" "21" "70" "X" "136649141" "136649145" "del" "0" "01195" "ZIC3_000068" "g.136649141_136649145del" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "" "" "" "" "g.137566982_137566986del" "" "pathogenic" ""
"0000664323" "21" "70" "X" "136649818" "136649818" "subst" "0" "01195" "ZIC3_000023" "g.136649818C>T" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "rs122462165" "" "" "" "g.137567659C>T" "" "pathogenic" ""
"0000664324" "21" "70" "X" "149718772" "149718772" "subst" "0" "01195" "ZIC3_000023" "g.149718772C>T" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "rs122462165" "" "" "" "g.149397636C>T" "" "pathogenic" ""
"0000682128" "0" "50" "X" "136649077" "136649077" "subst" "0" "01943" "ZIC3_000069" "g.136649077C>T" "" "" "" "ZIC3(NM_003413.3):c.227C>T (p.P76L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000693378" "0" "50" "X" "136648956" "136648956" "subst" "0" "01943" "ZIC3_000070" "g.136648956G>C" "" "" "" "ZIC3(NM_003413.3):c.106G>C (p.G36R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000693379" "0" "50" "X" "136649526" "136649526" "subst" "4.52164E-5" "01943" "ZIC3_000071" "g.136649526A>C" "" "" "" "ZIC3(NM_003413.3):c.676A>C (p.M226L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728473" "0" "30" "X" "136649295" "136649295" "subst" "0.00062085" "01943" "ZIC3_000072" "g.136649295G>A" "" "" "" "ZIC3(NM_003413.3):c.445G>A (p.A149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728474" "0" "50" "X" "136649319" "136649319" "subst" "5.88637E-6" "01943" "ZIC3_000073" "g.136649319C>A" "" "" "" "ZIC3(NM_003413.3):c.469C>A (p.P157T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728475" "0" "50" "X" "136649523" "136649528" "dup" "0" "01943" "ZIC3_000074" "g.136649523_136649528dup" "" "" "" "ZIC3(NM_003413.3):c.673_678dupAACATG (p.N225_M226dup), ZIC3(NM_003413.4):c.673_678dupAACATG (p.N225_M226dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809944" "0" "30" "X" "136649138" "136649138" "subst" "0" "01943" "ZIC3_000075" "g.136649138C>T" "" "" "" "ZIC3(NM_003413.3):c.288C>T (p.H96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809945" "0" "50" "X" "136649523" "136649528" "dup" "0" "02326" "ZIC3_000074" "g.136649523_136649528dup" "" "" "" "ZIC3(NM_003413.3):c.673_678dupAACATG (p.N225_M226dup), ZIC3(NM_003413.4):c.673_678dupAACATG (p.N225_M226dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809946" "0" "50" "X" "136659329" "136659329" "subst" "0" "02325" "ZIC3_000063" "g.136659329C>T" "" "" "" "ZIC3(NM_001330661.1):c.1273C>T (p.L425F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867081" "0" "30" "X" "136649302" "136649302" "subst" "0" "01943" "ZIC3_000076" "g.136649302C>G" "" "" "" "ZIC3(NM_003413.3):c.452C>G (p.A151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895949" "0" "10" "X" "136649711" "136649711" "subst" "0.00187471" "02326" "ZIC3_000061" "g.136649711G>A" "" "" "" "ZIC3(NM_003413.4):c.861G>A (p.V287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000931342" "0" "50" "X" "136649562" "136649562" "subst" "0" "02327" "ZIC3_000077" "g.136649562G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000931343" "0" "70" "X" "136649607" "136649607" "subst" "0" "02329" "ZIC3_000078" "g.136649607T>C" "" "" "" "ZIC3(NM_003413.4):c.757T>C (p.C253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000970792" "0" "50" "X" "136648869" "136648869" "subst" "0" "02325" "ZIC3_000079" "g.136648869G>A" "" "" "" "ZIC3(NM_003413.4):c.19G>A (p.G7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000970793" "0" "30" "X" "136648899" "136648899" "subst" "0.00259548" "02325" "ZIC3_000034" "g.136648899G>T" "" "" "" "ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006467" "0" "50" "X" "136649871" "136649871" "subst" "0" "01804" "ZIC3_000080" "g.136649871C>G" "" "" "" "ZIC3(NM_003413.3):c.1021C>G (p.(Arg341Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044126" "0" "50" "X" "136649659" "136649659" "subst" "0" "01804" "ZIC3_000081" "g.136649659G>C" "" "" "" "ZIC3(NM_003413.4):c.809G>C (p.(Arg270Pro))" "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 ZIC3
## Count = 97
"{{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}}" "{{VariantOnTranscript/Variant/Type}}"
"0000052432" "00000334" "70" "889" "0" "889" "0" "c.889T>G" "r.(?)" "p.(Cys297Gly)" "1" "substitution"
"0000052434" "00000334" "70" "876" "0" "876" "0" "c.876G>C" "r.(?)" "p.(Gln292His)" "1" "substitution"
"0000052435" "00000334" "90" "241" "0" "242" "0" "c.241_242dup" "r.(?)" "p.(Ala82Thrfs*142)" "1" "duplication, small"
"0000089822" "00000334" "90" "18" "0" "19" "0" "c.18_19delinsA" "r.(?)" "p.(Asp6Glufs*32)" "1" "indel"
"0000089823" "00000334" "90" "128" "0" "128" "0" "c.128C>A" "r.(?)" "p.(Ser43*)" "1" "substitution"
"0000089824" "00000334" "90" "148" "0" "148" "0" "c.148del" "r.(?)" "p.(Ala50Profs*9)" "1" "deletion, small"
"0000089825" "00000334" "50" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Ser109Cys)" "1" "substitution"
"0000089826" "00000334" "99" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Glu155*)" "1" "substitution"
"0000089827" "00000334" "99" "595" "0" "610" "0" "c.595_610del" "r.(?)" "p.(Tyr199Alafs*19)" "1" "deletion, small"
"0000089828" "00000334" "99" "680" "0" "680" "0" "c.680dup" "r.(?)" "p.(Val228Serfs*50)" "1" "duplication, small"
"0000089829" "00000334" "99" "842" "0" "843" "0" "c.842_843del" "r.(?)" "p.(His281Argfs*62)" "1" "deletion, small"
"0000089830" "00000334" "99" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Pro290Argfs*118)" "1" "deletion, small"
"0000089831" "00000334" "99" "1060" "1" "1060" "1" "c.1060+1G>A" "r.spl?" "p.?" "" "substitution"
"0000089832" "00000334" "99" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Glu355*)" "2" "substitution"
"0000089833" "00000334" "99" "1111" "0" "1111" "0" "c.1111A>C" "r.(?)" "p.(Asn371His)" "2" "substitution"
"0000089837" "00000334" "77" "1204" "0" "1204" "0" "c.1204T>C" "r.(?)" "p.(Ser402Pro)" "2" "substitution"
"0000089838" "00000334" "77" "1213" "0" "1213" "0" "c.1213A>G" "r.(?)" "p.(Lys405Glu)" "2" "substitution"
"0000089839" "00000334" "77" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Lys408*)" "2" "substitution"
"0000089840" "00000334" "00" "1340" "0" "1340" "0" "c.1340C>G" "r.(?)" "p.(Ala447Gly)" "3" "substitution"
"0000089841" "00000334" "77" "1048" "0" "1048" "0" "c.1048A>G" "r.(?)" "p.(Arg350Gly)" "1" "substitution"
"0000089842" "00000334" "77" "972" "0" "973" "0" "c.972_973insTT" "r.(?)" "p.(Glu325Leufs*84)" "1" "insertion, small"
"0000089843" "00000334" "77" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Met)" "1" "substitution"
"0000089844" "00000334" "77" "952" "0" "952" "0" "c.952C>A" "r.(?)" "p.(His318Asn)" "1" "substitution"
"0000089845" "00000334" "77" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Gln292*)" "1" "substitution"
"0000089846" "00000334" "77" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Glu291Glyfs*53)" "1" "duplication, small"
"0000089847" "00000334" "00" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(His286Arg)" "1" "substitution"
"0000089848" "00000334" "99" "804" "0" "804" "0" "c.804C>A" "r.(?)" "p.(Cys268*)" "1" "substitution"
"0000089849" "00000334" "77" "763" "0" "763" "0" "c.763T>G" "r.(?)" "p.(Trp255Gly)" "1" "substitution"
"0000089850" "00000334" "77" "758" "0" "758" "0" "c.758G>C" "r.(?)" "p.(Cys253Ser)" "1" "substitution"
"0000089851" "00000334" "99" "755" "0" "755" "0" "c.755C>A" "r.(?)" "p.(Ser252*)" "1" "substitution"
"0000089852" "00000334" "77" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249*)" "1" "substitution"
"0000089853" "00000334" "00" "649" "0" "649" "0" "c.649C>A" "r.(?)" "p.(Pro217Thr)" "1" "substitution"
"0000089854" "00000334" "55" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17Cys)" "1" "substitution"
"0000089855" "00000334" "00" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "1" "substitution"
"0000089859" "00000334" "55" "153" "0" "161" "0" "c.153_161del" "r.(?)" "p.(Ala53_Ala55del)" "1" "deletion, small"
"0000089860" "00000334" "55" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(Ala55dup)" "1" "duplication, small"
"0000089861" "00000334" "55" "160" "0" "165" "0" "c.160_165dup" "r.(?)" "p.(Ala54_Ala55dup)" "1" "duplication, small"
"0000089862" "00000334" "00" "160" "0" "168" "0" "c.160_168dup" "r.(?)" "p.(Ala54_Phe56dup)" "1" "duplication, small"
"0000315545" "00000334" "30" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17Cys)" "" ""
"0000315546" "00000334" "30" "576" "0" "576" "0" "c.576G>C" "r.(?)" "p.(Leu192=)" "" ""
"0000320200" "00000334" "50" "153" "0" "161" "0" "c.153_161del" "r.(?)" "p.(Ala53_Ala55del)" "" ""
"0000320202" "00000334" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(His90=)" "" ""
"0000320203" "00000334" "30" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17Cys)" "" ""
"0000320204" "00000334" "10" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Arg304=)" "" ""
"0000335692" "00000334" "30" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17Cys)" "" ""
"0000335694" "00000334" "50" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Met226Ile)" "" ""
"0000347938" "00000334" "30" "352" "0" "352" "0" "c.352T>C" "r.(?)" "p.(Phe118Leu)" "" ""
"0000573802" "00000334" "30" "-17" "0" "-17" "0" "c.-17C>G" "r.(?)" "p.(=)" "" ""
"0000573805" "00000334" "30" "137" "0" "137" "0" "c.137C>G" "r.(?)" "p.(Ala46Gly)" "" ""
"0000573806" "00000334" "50" "148" "0" "148" "0" "c.148G>T" "r.(?)" "p.(Ala50Ser)" "" ""
"0000573807" "00000334" "30" "153" "0" "161" "0" "c.153_161del" "r.(?)" "p.(Ala53_Ala55del)" "" ""
"0000573808" "00000334" "50" "153" "0" "161" "0" "c.153_161del" "r.(?)" "p.(Ala53_Ala55del)" "" ""
"0000573809" "00000334" "50" "157" "0" "165" "0" "c.157_165del" "r.(?)" "p.(Ala53_Ala55del)" "" ""
"0000573810" "00000334" "30" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(Ala55dup)" "" ""
"0000573811" "00000334" "30" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(Ala55dup)" "" ""
"0000573812" "00000334" "10" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(Ala55dup)" "" ""
"0000573813" "00000334" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ala54=)" "" ""
"0000573817" "00000334" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "" ""
"0000573818" "00000334" "30" "649" "0" "649" "0" "c.649C>G" "r.(?)" "p.(Pro217Ala)" "" ""
"0000573819" "00000334" "10" "649" "0" "649" "0" "c.649C>G" "r.(?)" "p.(Pro217Ala)" "" ""
"0000573821" "00000334" "90" "842" "0" "843" "0" "c.842_843del" "r.(?)" "p.(His281ArgfsTer62)" "" ""
"0000573822" "00000334" "10" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Val287=)" "" ""
"0000573823" "00000334" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Pro290ArgfsTer118)" "" ""
"0000573824" "00000334" "30" "920" "0" "920" "0" "c.920A>G" "r.(?)" "p.(Lys307Arg)" "" ""
"0000573825" "00000334" "70" "1060" "1" "1060" "1" "c.1060+1G>A" "r.spl?" "p.?" "" ""
"0000573826" "00000334" "90" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Glu355Ter)" "" ""
"0000573827" "00000334" "90" "1111" "0" "1111" "0" "c.1111A>C" "r.(?)" "p.(Asn371His)" "" ""
"0000573828" "00000334" "50" "8504" "0" "8504" "0" "c.*7100C>T" "r.(=)" "p.(=)" "" ""
"0000619039" "00000334" "50" "153" "0" "161" "0" "c.153_161dup" "r.(?)" "p.(Ala53_Ala55dup)" "" ""
"0000619040" "00000334" "50" "156" "0" "161" "0" "c.156_161dup" "r.(?)" "p.(Ala54_Ala55dup)" "" ""
"0000619041" "00000334" "30" "157" "0" "165" "0" "c.157_165del" "r.(?)" "p.(Ala53_Ala55del)" "" ""
"0000619042" "00000334" "30" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(Ala55dup)" "" ""
"0000619043" "00000334" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Ala203Thr)" "" ""
"0000619044" "00000334" "90" "680" "0" "680" "0" "c.680dup" "r.(?)" "p.(Val228SerfsTer50)" "" ""
"0000619045" "00000334" "50" "1160" "0" "1160" "0" "c.1160C>G" "r.(?)" "p.(Pro387Arg)" "" ""
"0000652801" "00000334" "50" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17Cys)" "" ""
"0000664321" "00000334" "70" "291" "0" "295" "0" "c.291_295del" "r.(291_295del)" "p.(His97Glnfs*31)" "1" "deletion, small"
"0000664322" "00000334" "70" "291" "0" "295" "0" "c.291_295del" "r.(291_295del)" "p.(His97Glnfs*31)" "1" "deletion, small"
"0000664323" "00000334" "70" "968" "0" "968" "0" "c.968C>T" "r.(968c>u)" "p.(Thr323Met)" "1" ""
"0000664324" "00000334" "70" "968" "0" "968" "0" "c.968C>T" "r.(968c>u)" "p.(Thr323Met)" "1" "substitution"
"0000682128" "00000334" "50" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Pro76Leu)" "" ""
"0000693378" "00000334" "50" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Gly36Arg)" "" ""
"0000693379" "00000334" "50" "676" "0" "676" "0" "c.676A>C" "r.(?)" "p.(Met226Leu)" "" ""
"0000728473" "00000334" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" ""
"0000728474" "00000334" "50" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Pro157Thr)" "" ""
"0000728475" "00000334" "50" "673" "0" "678" "0" "c.673_678dup" "r.(?)" "p.(Asn225_Met226dup)" "" ""
"0000809944" "00000334" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(His96=)" "" ""
"0000809945" "00000334" "50" "673" "0" "678" "0" "c.673_678dup" "r.(?)" "p.(Asn225_Met226dup)" "" ""
"0000809946" "00000334" "50" "8504" "0" "8504" "0" "c.*7100C>T" "r.(=)" "p.(=)" "" ""
"0000867081" "00000334" "30" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Ala151Gly)" "" ""
"0000895949" "00000334" "10" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Val287=)" "" ""
"0000931342" "00000334" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Ala238Thr)" "" ""
"0000931343" "00000334" "70" "757" "0" "757" "0" "c.757T>C" "r.(?)" "p.(Cys253Arg)" "" ""
"0000970792" "00000334" "50" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Gly7Arg)" "" ""
"0000970793" "00000334" "30" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Gly17Cys)" "" ""
"0001006467" "00000334" "50" "1021" "0" "1021" "0" "c.1021C>G" "r.(?)" "p.(Arg341Gly)" "" ""
"0001044126" "00000334" "50" "809" "0" "809" "0" "c.809G>C" "r.(?)" "p.(Arg270Pro)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 43
"{{screeningid}}" "{{variantid}}"
"0000029082" "0000052432"
"0000029083" "0000052434"
"0000029084" "0000052435"
"0000059022" "0000089822"
"0000059023" "0000089823"
"0000059024" "0000089824"
"0000059025" "0000089825"
"0000059026" "0000089826"
"0000059027" "0000089827"
"0000059028" "0000089828"
"0000059029" "0000089829"
"0000059030" "0000089830"
"0000059031" "0000089831"
"0000059032" "0000089832"
"0000059033" "0000089833"
"0000059038" "0000089837"
"0000059039" "0000089838"
"0000059040" "0000089839"
"0000059041" "0000089840"
"0000059042" "0000089841"
"0000059043" "0000089842"
"0000059044" "0000089843"
"0000059045" "0000089844"
"0000059046" "0000089845"
"0000059047" "0000089846"
"0000059048" "0000089847"
"0000059049" "0000089848"
"0000059050" "0000089849"
"0000059051" "0000089850"
"0000059052" "0000089851"
"0000059053" "0000089852"
"0000059054" "0000089853"
"0000059055" "0000089854"
"0000059056" "0000089855"
"0000059060" "0000089859"
"0000059061" "0000089860"
"0000059062" "0000089861"
"0000059063" "0000089862"
"0000296112" "0000652801"
"0000301391" "0000664321"
"0000301392" "0000664322"
"0000301393" "0000664323"
"0000301394" "0000664324"