### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LTBP4) # 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}}" "LTBP4" "latent transforming growth factor beta binding protein 4" "19" "q13.1-q13.2" "unknown" "NG_021201.1" "UD_132085296237" "" "http://www.LOVD.nl/LTBP4" "" "1" "6717" "8425" "604710" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/LTBP4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-10-14 14:40:17" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00011554" "LTBP4" "transcript variant 2" "001" "NM_003573.2" "" "NP_003564.2" "" "" "" "1" "5033" "4763" "41099072" "41135725" "" "0000-00-00 00:00:00" "" "" "00025978" "LTBP4" "transcript variant 3" "003" "NM_001042545.1" "" "NP_001036010.1" "" "" "RefSeq select" "-17" "4943" "4673" "41107277" "41135725" "00006" "2025-01-31 18:39:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03275" "ARCL1C" "cutis laxa, autosomal recessive, type IC (ARCL-1C)" "AR" "613177" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LTBP4" "03275" ## Individuals ## Do not remove or alter this header ## ## Count = 84 "{{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}}" "00081428" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00081465" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "no" "United States" "" "0" "" "" "white" "" "00081466" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00081467" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "no" "France" "" "0" "" "" "" "" "00081468" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "M" "yes" "Spain" "" "0" "" "" "white" "" "00081469" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "yes" "(Afghanistan)" "" "0" "" "" "middle-east" "" "00081470" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00081471" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00081472" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "yes" "Spain" "" "0" "" "" "unknown" "" "00081473" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "M" "yes" "" "" "0" "" "" "middle-east" "" "00119104" "" "" "" "1" "" "00454" "{PMID:Luce 2018:30342905} {PMID:Luce 2021:34149409}" "" "M" "?" "Argentina" "" "0" "" "" "" "#435" "00141301" "" "" "" "1" "" "00454" "" "" "M" "" "Argentina" "" "0" "" "" "" "#171" "00141315" "" "" "" "1" "" "00454" "" "" "M" "" "Argentina" "" "0" "" "" "" "#430" "00144681" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#125" "00144684" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#64LP" "00229683" "" "" "" "1" "" "02284" "" "" "F" "yes" "Venezuela" "01y06m" "0" "" "" "" "" "00266430" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "" "" "" "" "#626" "00266435" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "no" "Argentina" "" "" "" "" "" "#378" "00274472" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#153" "00274480" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#186" "00274498" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#67" "00274505" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047}" "" "M" "" "Argentina" "" "0" "" "" "" "#616" "00292128" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292129" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292130" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292131" "" "" "" "233" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292132" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292133" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304661" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362954" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#853" "00362968" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#273" "00362976" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#294" "00363002" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "del-dup" "M" "" "Argentina" "" "0" "" "" "" "#477" "00363006" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#507" "00363046" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#676" "00363061" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#644" "00363104" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#800" "00462133" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#874" "00462134" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#69LP" "00462135" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#832" "00462136" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#52LP" "00462137" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#94" "00462138" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#554" "00462139" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#263" "00462140" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#184LP" "00462141" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#879" "00462142" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#137" "00462143" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#229LP" "00462144" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#658" "00462145" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#864" "00462146" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#15LP" "00462147" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#915" "00462148" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#431" "00462149" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#467" "00462150" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#195LP" "00462151" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#564" "00462152" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#47LP" "00462153" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#169LP" "00462154" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#238LP" "00462155" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#68LP" "00462156" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#677" "00462157" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#747" "00462158" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#432" "00462159" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#34LP" "00462160" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#545" "00462161" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#66LP" "00462162" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#516" "00462163" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#823" "00462164" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#72LP" "00462165" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#212LP" "00462166" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#81LP" "00462167" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#182LP" "00462168" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#912" "00462169" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#888" "00462170" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#39LP" "00462171" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#228" "00462172" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#132" "00462173" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#420" "00462174" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#283" "00462175" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#184" "00462176" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#48LP" "00462177" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#584" "00462178" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#523" "00462179" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#13LP" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 84 "{{individualid}}" "{{diseaseid}}" "00081428" "05155" "00081465" "03275" "00081466" "03275" "00081467" "03275" "00081468" "03275" "00081469" "03275" "00081470" "03275" "00081471" "03275" "00081472" "03275" "00081473" "03275" "00119104" "05324" "00141301" "05324" "00141315" "05324" "00144681" "05324" "00144684" "05324" "00229683" "03275" "00266430" "05324" "00266435" "05324" "00274472" "05378" "00274480" "05378" "00274498" "05378" "00274505" "05378" "00292128" "00198" "00292129" "00198" "00292130" "00198" "00292131" "00198" "00292132" "00198" "00292133" "00198" "00304661" "00198" "00362954" "05121" "00362968" "05121" "00362976" "05121" "00363002" "05121" "00363006" "05121" "00363046" "05121" "00363061" "05121" "00363104" "05121" "00462133" "05378" "00462134" "05378" "00462135" "05378" "00462136" "05378" "00462137" "05378" "00462138" "05378" "00462139" "05378" "00462140" "05378" "00462141" "05378" "00462142" "05378" "00462143" "05378" "00462144" "05378" "00462145" "05378" "00462146" "05378" "00462147" "05378" "00462148" "05378" "00462149" "05378" "00462150" "05378" "00462151" "05378" "00462152" "05378" "00462153" "05378" "00462154" "05378" "00462155" "05378" "00462156" "05378" "00462157" "05378" "00462158" "05378" "00462159" "05378" "00462160" "05378" "00462161" "05378" "00462162" "05378" "00462163" "05378" "00462164" "05378" "00462165" "05378" "00462166" "05378" "00462167" "05378" "00462168" "05378" "00462169" "05378" "00462170" "05378" "00462171" "05378" "00462172" "05378" "00462173" "05378" "00462174" "05378" "00462175" "05378" "00462176" "05378" "00462177" "05378" "00462178" "05378" "00462179" "05378" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03275, 05121, 05155, 05324, 05378 ## Count = 75 "{{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}}" "0000061030" "05155" "00081428" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000061050" "03275" "00081465" "00735" "Familial, autosomal recessive" "23y" "cutis laxa - mainly on trunk, little facial involvement\r\ndiaphragmatic slinding hernia\r\nperipheral pulmonary artery stenosis\r\nsevere bladder diverticula\r\nrectal prolapse, joint hypermobility, large ears, beaked nose" "" "" "" "" "" "" "" "" "" "" "" "0000061051" "03275" "00081466" "00735" "Familial, autosomal recessive" "0m" "generalized congenital cutis laxa with facial involvement\r\nsevere pulmonary emphysema, bronchomalacia\r\nperipheral pulmonary artery stenoses\r\nhypotonia\r\nprominent veins\r\ndilated pelvis left kidney" "" "" "" "" "" "" "" "" "" "" "" "0000061052" "03275" "00081467" "00735" "Familial, autosomal recessive" "3m" "generalized cutis laxa with facial involvement\r\nsevere pulmonary emphysema\r\nperipheral pulmonary artery stenoses\r\nhypotonia\r\nbladder diverticula\r\nlarge ears, low nasal bridge, prominent veins" "" "" "" "" "" "" "" "" "" "" "" "0000061053" "03275" "00081468" "00735" "Familial, autosomal recessive" "2y" "generalized cutis laxa with facial involvement\r\nsevere pulmonary emphysema\r\ncongentital hernia diaphragmantica (surgery)\r\nperipheral pulmonary artery stenoses\r\nhypotonia\r\nfrontal bossing, thin hair growth" "" "" "" "" "" "" "" "" "" "" "" "0000061054" "03275" "00081469" "00735" "Familial, autosomal recessive" "10y" "congenital generalized cutis laxa with facial involvement, inguinal herniae, severe pulmonary emphysema, diaphragmatic hernia (surgery), polyvalvular disease, atrial septum aneurysm, recal rplapse, abdomnial wall herniae, prominent veins" "" "" "" "" "" "" "" "" "" "" "" "0000061055" "03275" "00081470" "00735" "Familial, autosomal recessive" "6m" "congenital generalized cutis laxa with facial involvement, pulmonary emphysema, pulmonary and systemic hypertension, late onset GBS sepsis, unilateral pyelic dilatation" "" "" "" "" "" "" "" "" "" "" "" "0000061056" "03275" "00081471" "00735" "Familial, autosomal recessive" "6m" "generalized congenital cutis laxa with facial involvement, diaphragmatic hernia, pulmonary hypertension, perpheral pulmonary artery stenoses, dysplastic pulmonary and aortic valves, atrium septum defect, severe gastro-intestinal diverticula, hypotonia, gastric perforation, polyhydramnion, esohageal tortuosity, gastric perforation, tissue fragility" "" "" "" "" "" "" "" "" "" "" "" "0000061057" "03275" "00081472" "00735" "Familial, autosomal recessive" "13y" "mild cutis laxa (generalized with later onset), mild pulmonary emphysema, perpheral pulmonary artery stenoses, tricuspid regurgitation, prominent forehead, blepharophimosis, epicanthal folds, short nose, elongated philtrum, lowset ears, webbed neck, low posterior hear-line, pelvic insufficiency, brain abcesses." "" "" "" "" "" "" "" "" "" "" "" "0000061058" "03275" "00081473" "00735" "Familial, autosomal recessive" "6m" "congenital generalized cutis laxa with facial involvement, hiatal hernia, severe pulmonary emphysema, mild tricuspid regurgitation, pulmonary hypertension, bladder diverticula, hypotonia, large ears, frontal bossing, broad low nasal bridge, small fontanel, hypdronephrosis, tracheomalacia, joint hypermobility" "" "" "" "" "" "" "" "" "" "" "" "0000094103" "05324" "00119104" "00454" "Familial, X-linked" "18y" "" "2y" "" "" "" "" "" "" "" "" "DMD" "" "0000114049" "05324" "00141301" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000114063" "05324" "00141315" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000117417" "05324" "00144681" "00454" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117624" "05324" "00144684" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204175" "05324" "00266435" "00454" "Familial, X-linked recessive" "14y" "HP:0001252 (lower limbs, onset 6m), HP:0002540" "00y06m" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000209411" "05378" "00274472" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000209419" "05378" "00274480" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000209437" "05378" "00274498" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "?" "BMD" "" "0000209444" "05378" "00274505" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000258320" "05121" "00362954" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258334" "05121" "00362968" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258342" "05121" "00362976" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258368" "05121" "00363002" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258372" "05121" "00363006" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258412" "05121" "00363046" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258427" "05121" "00363061" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258470" "05121" "00363104" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000349633" "05378" "00462133" "00454" "Unknown" "" "9y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349634" "05378" "00462134" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349635" "05378" "00462135" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349636" "05378" "00462136" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349637" "05378" "00462137" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349638" "05378" "00462138" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349639" "05378" "00462139" "00454" "Unknown" "" "8y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349640" "05378" "00462140" "00454" "Unknown" "" "11y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349641" "05378" "00462141" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349642" "05378" "00462142" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349643" "05378" "00462143" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349644" "05378" "00462144" "00454" "Unknown" "" "11y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349645" "05378" "00462145" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349646" "05378" "00462146" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349647" "05378" "00462147" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349648" "05378" "00462148" "00454" "Unknown" "" "9y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349649" "05378" "00462149" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349650" "05378" "00462150" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349651" "05378" "00462151" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349652" "05378" "00462152" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349653" "05378" "00462153" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349654" "05378" "00462154" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349655" "05378" "00462155" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349656" "05378" "00462156" "00454" "Unknown" "" "7y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349657" "05378" "00462157" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349658" "05378" "00462158" "00454" "Unknown" "" "23y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349659" "05378" "00462159" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349660" "05378" "00462160" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349661" "05378" "00462161" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349662" "05378" "00462162" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349663" "05378" "00462163" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349664" "05378" "00462164" "00454" "Unknown" "" "17y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349665" "05378" "00462165" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349666" "05378" "00462166" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349667" "05378" "00462167" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349668" "05378" "00462168" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349669" "05378" "00462169" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349670" "05378" "00462170" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349671" "05378" "00462171" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349672" "05378" "00462172" "00454" "Unknown" "" "15y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349673" "05378" "00462173" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349674" "05378" "00462174" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349675" "05378" "00462175" "00454" "Unknown" "" "18y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349676" "05378" "00462176" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD." "BMD/DMD" "" "0000349677" "05378" "00462177" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349678" "05378" "00462178" "00454" "Unknown" "" "18y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349679" "05378" "00462179" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081557" "00081428" "1" "01783" "01783" "2016-10-13 16:14:41" "" "" "SEQ-NG" "DNA" "blood" "" "0000081595" "00081465" "1" "00735" "00735" "2012-06-18 13:33:32" "" "" "SEQ" "DNA" "" "" "0000081596" "00081466" "1" "00735" "00735" "2012-06-18 13:43:53" "" "" "SEQ" "DNA" "" "" "0000081597" "00081467" "1" "00735" "00735" "2012-06-18 13:51:38" "" "" "SEQ" "DNA" "" "" "0000081598" "00081468" "1" "00735" "00735" "2012-06-18 14:03:05" "" "" "SEQ" "DNA" "" "" "0000081599" "00081469" "1" "00735" "00735" "2012-06-18 14:10:31" "" "" "SEQ" "DNA" "" "" "0000081600" "00081470" "1" "00735" "00735" "2012-06-18 14:19:47" "" "" "SEQ" "DNA" "" "" "0000081601" "00081471" "1" "00735" "00735" "2012-06-18 14:25:07" "" "" "SEQ" "DNA" "" "" "0000081602" "00081472" "1" "00735" "00735" "2012-06-18 14:33:36" "" "" "SEQ" "DNA" "" "" "0000081603" "00081473" "1" "00735" "00735" "2012-06-18 14:43:35" "" "" "SEQ" "DNA" "" "" "0000119573" "00119104" "1" "00454" "00454" "2017-09-07 20:20:23" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000142141" "00141301" "1" "00454" "00454" "2007-10-03 17:42:33" "00006" "2013-02-01 19:44:09" "PCRm" "DNA" "" "" "0000142155" "00141315" "1" "00454" "00454" "2007-10-03 17:39:48" "00006" "2019-10-25 14:41:22" "MLPA;PCRm" "DNA" "" "" "0000145538" "00144681" "1" "00454" "00454" "2017-12-21 20:58:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000145541" "00144684" "1" "00454" "00454" "2017-12-21 21:08:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000230776" "00229683" "1" "02284" "02284" "2019-04-09 16:07:33" "" "" "SEQ" "DNA" "" "" "0000267557" "00266430" "1" "00454" "00454" "2019-10-25 18:30:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000267562" "00266435" "1" "00454" "00454" "2019-10-25 19:43:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000275632" "00274472" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275640" "00274480" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275658" "00274498" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275665" "00274505" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000293296" "00292128" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293297" "00292129" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293298" "00292130" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293299" "00292131" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293300" "00292132" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293301" "00292133" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305790" "00304661" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364182" "00362954" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "SEQ-NG-I" "DNA" "BLOOD" "" "0000364196" "00362968" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364204" "00362976" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364230" "00363002" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364234" "00363006" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364274" "00363046" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA; PCR" "DNA" "BLOOD" "" "0000364289" "00363061" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364332" "00363104" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000463765" "00462133" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463766" "00462134" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463767" "00462135" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463768" "00462136" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463769" "00462137" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463770" "00462138" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463771" "00462139" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463772" "00462140" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463773" "00462141" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463774" "00462142" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463775" "00462143" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463776" "00462144" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463777" "00462145" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463778" "00462146" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463779" "00462147" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463780" "00462148" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463781" "00462149" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463782" "00462150" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463783" "00462151" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463784" "00462152" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463785" "00462153" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463786" "00462154" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463787" "00462155" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463788" "00462156" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463789" "00462157" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463790" "00462158" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463791" "00462159" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463792" "00462160" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463793" "00462161" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463794" "00462162" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463795" "00462163" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463796" "00462164" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463797" "00462165" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463798" "00462166" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463799" "00462167" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463800" "00462168" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463801" "00462169" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463802" "00462170" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463803" "00462171" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463804" "00462172" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463805" "00462173" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463806" "00462174" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463807" "00462175" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463808" "00462176" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463809" "00462177" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463810" "00462178" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463811" "00462179" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 77 "{{screeningid}}" "{{geneid}}" "0000081557" "LTBP4" "0000081595" "LTBP4" "0000081596" "LTBP4" "0000081597" "LTBP4" "0000081598" "LTBP4" "0000081599" "LTBP4" "0000081600" "LTBP4" "0000081601" "LTBP4" "0000081602" "LTBP4" "0000081603" "LTBP4" "0000119573" "DMD" "0000142141" "DMD" "0000142155" "DMD" "0000145538" "DMD" "0000145541" "DMD" "0000230776" "LTBP4" "0000267557" "DMD" "0000267562" "DMD" "0000275632" "DMD" "0000275640" "DMD" "0000275658" "DMD" "0000275665" "DMD" "0000364182" "DMD" "0000364196" "DMD" "0000364204" "DMD" "0000364230" "DMD" "0000364234" "DMD" "0000364274" "DMD" "0000364289" "DMD" "0000364332" "DMD" "0000463765" "DMD" "0000463766" "DMD" "0000463767" "DMD" "0000463768" "DMD" "0000463769" "DMD" "0000463770" "DMD" "0000463771" "DMD" "0000463772" "DMD" "0000463773" "DMD" "0000463774" "DMD" "0000463775" "DMD" "0000463776" "DMD" "0000463777" "DMD" "0000463778" "DMD" "0000463779" "DMD" "0000463780" "DMD" "0000463781" "DMD" "0000463782" "DMD" "0000463783" "DMD" "0000463784" "DMD" "0000463785" "DMD" "0000463786" "DMD" "0000463787" "DMD" "0000463788" "DMD" "0000463789" "DMD" "0000463790" "DMD" "0000463791" "DMD" "0000463792" "DMD" "0000463793" "DMD" "0000463794" "DMD" "0000463795" "DMD" "0000463796" "DMD" "0000463797" "DMD" "0000463798" "DMD" "0000463799" "DMD" "0000463800" "DMD" "0000463801" "DMD" "0000463802" "DMD" "0000463803" "DMD" "0000463804" "DMD" "0000463805" "DMD" "0000463806" "DMD" "0000463807" "DMD" "0000463808" "DMD" "0000463809" "DMD" "0000463810" "DMD" "0000463811" "DMD" ## 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 = 255 "{{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}}" "0000132215" "0" "50" "19" "41114408" "41114408" "subst" "0.000133243" "01783" "LTBP4_000013" "g.41114408G>A" "" "" "" "1418G>A (R473H)" "" "De novo" "" "" "0" "" "" "g.40608502G>A" "" "VUS" "" "0000132262" "1" "90" "19" "41114221" "41114221" "subst" "0" "00735" "LTBP4_000001" "g.41114221C>T" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40608315C>T" "" "pathogenic" "" "0000132263" "3" "90" "19" "41118989" "41118989" "subst" "0" "00735" "LTBP4_000003" "g.41118989C>A" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40613083C>A" "" "pathogenic" "" "0000132264" "1" "90" "19" "41129523" "41129523" "subst" "0" "00735" "LTBP4_000004" "g.41129523C>T" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40623618C>T" "" "pathogenic" "" "0000132265" "3" "90" "19" "41111560" "41111560" "subst" "0" "00735" "LTBP4_000006" "g.41111560T>G" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40605654T>G" "" "pathogenic" "" "0000132266" "3" "90" "19" "41114142" "41114142" "del" "0" "00735" "LTBP4_000007" "g.41114142del" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40608236del" "" "pathogenic" "" "0000132267" "3" "90" "19" "41116514" "41116514" "subst" "0" "00735" "LTBP4_000008" "g.41116514C>A" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40610608C>A" "" "pathogenic" "" "0000132268" "3" "90" "19" "41132931" "41132931" "dup" "0" "00735" "LTBP4_000009" "g.41132931dup" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40627026dup" "" "pathogenic" "" "0000132269" "3" "90" "19" "41132933" "41132933" "subst" "0" "00735" "LTBP4_000010" "g.41132933C>T" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40627028C>T" "" "pathogenic" "" "0000132270" "3" "90" "19" "41128554" "41128554" "subst" "0" "00735" "LTBP4_000011" "g.41128554T>C" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40622649T>C" "" "pathogenic" "" "0000132271" "2" "90" "19" "41132919" "41132919" "dup" "0" "00735" "LTBP4_000002" "g.41132919dup" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40627014dup" "" "pathogenic" "" "0000132272" "2" "90" "19" "41129951" "41129951" "subst" "0" "00735" "LTBP4_000005" "g.41129951C>T" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "" "" "0" "" "" "g.40624046C>T" "" "pathogenic" "" "0000248325" "0" "10" "19" "41117869" "41117869" "subst" "0.439593" "02325" "LTBP4_000035" "g.41117869A>G" "" "" "" "LTBP4(NM_001042544.1):c.2359A>G (p.T787A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40611963A>G" "" "benign" "" "0000248326" "0" "10" "19" "41118056" "41118056" "subst" "0.439969" "02325" "LTBP4_000020" "g.41118056A>G" "" "" "" "LTBP4(NM_001042544.1):c.2458A>G (p.T820A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40612150A>G" "" "benign" "" "0000250060" "0" "10" "19" "41117869" "41117869" "subst" "0.439593" "02329" "LTBP4_000035" "g.41117869A>G" "" "" "" "LTBP4(NM_001042544.1):c.2359A>G (p.T787A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40611963A>G" "" "benign" "" "0000250061" "0" "10" "19" "41118056" "41118056" "subst" "0.439969" "02329" "LTBP4_000020" "g.41118056A>G" "" "" "" "LTBP4(NM_001042544.1):c.2458A>G (p.T820A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40612150A>G" "" "benign" "" "0000250176" "0" "10" "19" "41133192" "41133192" "subst" "0.0105902" "02329" "LTBP4_000033" "g.41133192A>T" "" "" "" "LTBP4(NM_001042544.1):c.4499A>T (p.Y1500F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40627287A>T" "" "benign" "" "0000282351" "0" "10" "19" "41123095" "41123095" "dup" "0" "02325" "LTBP4_000023" "g.41123095dup" "" "" "" "LTBP4(NM_001042544.1):c.3236dupG (p.Y1080Lfs*17), LTBP4(NM_003573.2):c.3125dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40617190dup" "" "benign" "" "0000282352" "0" "10" "19" "41128309" "41128309" "subst" "0.378368" "02325" "LTBP4_000024" "g.41128309C>T" "" "" "" "LTBP4(NM_001042544.1):c.3422C>T (p.T1141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40622404C>T" "" "benign" "" "0000282353" "0" "10" "19" "41129842" "41129842" "subst" "0.429812" "02325" "LTBP4_000028" "g.41129842C>T" "" "" "" "LTBP4(NM_001042544.1):c.3888C>T (p.D1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40623937C>T" "" "benign" "" "0000283601" "0" "10" "19" "41114269" "41114269" "subst" "0.0122834" "02329" "LTBP4_000016" "g.41114269T>A" "" "" "" "LTBP4(NM_001042544.1):c.1501T>A (p.S501T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40608363T>A" "" "benign" "" "0000283602" "0" "10" "19" "41116455" "41116455" "subst" "0.0274017" "02329" "LTBP4_000018" "g.41116455C>G" "" "" "" "LTBP4(NM_001042544.1):c.1903C>G (p.R635G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40610549C>G" "" "benign" "" "0000283603" "0" "10" "19" "41117754" "41117754" "subst" "0.0595833" "02329" "LTBP4_000019" "g.41117754C>A" "" "" "" "LTBP4(NM_001042544.1):c.2255-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40611848C>A" "" "benign" "" "0000283604" "0" "10" "19" "41119829" "41119829" "subst" "0.0784949" "02329" "LTBP4_000021" "g.41119829C>T" "" "" "" "LTBP4(NM_001042544.1):c.2766C>T (p.D922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40613923C>T" "" "benign" "" "0000283606" "0" "10" "19" "41128309" "41128309" "subst" "0.378368" "02329" "LTBP4_000024" "g.41128309C>T" "" "" "" "LTBP4(NM_001042544.1):c.3422C>T (p.T1141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40622404C>T" "" "benign" "" "0000283607" "0" "10" "19" "41128415" "41128415" "subst" "0.0391357" "02329" "LTBP4_000026" "g.41128415G>A" "" "" "" "LTBP4(NM_001042544.1):c.3528G>A (p.V1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40622510G>A" "" "benign" "" "0000283608" "0" "10" "19" "41129842" "41129842" "subst" "0.429812" "02329" "LTBP4_000028" "g.41129842C>T" "" "" "" "LTBP4(NM_001042544.1):c.3888C>T (p.D1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40623937C>T" "" "benign" "" "0000283609" "0" "10" "19" "41135283" "41135283" "subst" "0.0934156" "02329" "LTBP4_000034" "g.41135283G>C" "" "" "" "LTBP4(NM_001042544.1):c.4721-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40629378G>C" "" "benign" "" "0000291249" "0" "30" "19" "41112332" "41112332" "subst" "0.0040332" "01943" "LTBP4_000015" "g.41112332C>T" "" "" "" "LTBP4(NM_001042544.1):c.1092C>T (p.G364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40606426C>T" "" "likely benign" "" "0000291250" "0" "30" "19" "41129525" "41129525" "subst" "0" "01943" "LTBP4_000027" "g.41129525G>A" "" "" "" "LTBP4(NM_001042544.1):c.3774G>A (p.Q1258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40623620G>A" "" "likely benign" "" "0000291251" "0" "30" "19" "41111360" "41111360" "subst" "4.19298E-6" "01943" "LTBP4_000014" "g.41111360G>C" "" "" "" "LTBP4(NM_001042544.1):c.693G>C (p.S231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40605454G>C" "" "likely benign" "" "0000326505" "0" "30" "19" "41115428" "41115428" "subst" "0" "01804" "LTBP4_000017" "g.41115428C>A" "" "" "" "LTBP4(NM_001042544.1):c.1628-8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40609522C>A" "" "likely benign" "" "0000326507" "0" "30" "19" "41131856" "41131856" "subst" "0" "01804" "LTBP4_000029" "g.41131856C>T" "" "" "" "LTBP4(NM_001042544.1):c.4127C>T (p.(Ala1376Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40625951C>T" "" "likely benign" "" "0000326510" "0" "50" "19" "41133005" "41133005" "subst" "0.000443392" "01804" "LTBP4_000032" "g.41133005G>A" "" "" "" "LTBP4(NM_001042544.1):c.4311G>A (p.(Met1437Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40627100G>A" "" "VUS" "" "0000472482" "3" "90" "19" "41114443" "41114443" "del" "0" "02284" "LTBP4_000036" "g.41114443del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40608537del" "" "pathogenic (recessive)" "" "0000567410" "0" "10" "19" "41111069" "41111069" "subst" "0.461792" "02325" "LTBP4_000037" "g.41111069G>A" "" "" "" "LTBP4(NM_001042544.1):c.580G>A (p.V194I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40605163G>A" "" "benign" "" "0000567411" "0" "10" "19" "41111069" "41111069" "subst" "0.461792" "02329" "LTBP4_000037" "g.41111069G>A" "" "" "" "LTBP4(NM_001042544.1):c.580G>A (p.V194I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40605163G>A" "" "benign" "" "0000567412" "0" "30" "19" "41114186" "41114186" "subst" "0.000109846" "01804" "LTBP4_000038" "g.41114186G>A" "" "" "" "LTBP4(NM_001042544.1):c.1418G>A (p.(Arg473His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40608280G>A" "" "likely benign" "" "0000567413" "0" "10" "19" "41114207" "41114207" "subst" "0.00070855" "01943" "LTBP4_000039" "g.41114207G>A" "" "" "" "LTBP4(NM_001042544.1):c.1439G>A (p.G480D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40608301G>A" "" "benign" "" "0000567416" "0" "10" "19" "41117215" "41117215" "subst" "0.00228951" "01943" "LTBP4_000041" "g.41117215C>T" "" "" "" "LTBP4(NM_001042544.1):c.2169C>T (p.P723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40611309C>T" "" "benign" "" "0000567418" "0" "10" "19" "41120358" "41120358" "subst" "0.00231171" "01943" "LTBP4_000043" "g.41120358C>T" "" "" "" "LTBP4(NM_001042544.1):c.3013+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40614452C>T" "" "benign" "" "0000567419" "0" "30" "19" "41120358" "41120358" "subst" "0.00231171" "01804" "LTBP4_000043" "g.41120358C>T" "" "" "" "LTBP4(NM_001042544.1):c.3013+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40614452C>T" "" "likely benign" "" "0000567421" "0" "10" "19" "41123095" "41123095" "dup" "0" "02329" "LTBP4_000023" "g.41123095dup" "" "" "" "LTBP4(NM_001042544.1):c.3236dupG (p.Y1080Lfs*17), LTBP4(NM_003573.2):c.3125dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40617190dup" "" "benign" "" "0000567422" "0" "30" "19" "41129995" "41129995" "subst" "0.00131827" "01804" "LTBP4_000045" "g.41129995C>T" "" "" "" "LTBP4(NM_001042544.1):c.4032+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40624090C>T" "" "likely benign" "" "0000567425" "0" "10" "19" "41133268" "41133268" "subst" "0.00674016" "02329" "LTBP4_000047" "g.41133268C>T" "" "" "" "LTBP4(NM_003573.2):c.4456+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40627363C>T" "" "benign" "" "0000617625" "0" "30" "19" "41118038" "41118038" "subst" "0.000175753" "01804" "LTBP4_000048" "g.41118038G>A" "" "" "" "LTBP4(NM_001042544.1):c.2440G>A (p.(Gly814Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40612132G>A" "" "likely benign" "" "0000617626" "0" "50" "19" "41120287" "41120287" "subst" "0" "01804" "LTBP4_000049" "g.41120287G>A" "" "" "" "LTBP4(NM_001042544.1):c.2948G>A (p.(Gly983Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40614381G>A" "" "VUS" "" "0000617627" "0" "90" "19" "41131890" "41131891" "dup" "0" "02327" "LTBP4_000050" "g.41131890_41131891dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40625985_40625986dup" "" "pathogenic" "" "0000649985" "1" "30" "19" "41107428" "41107428" "subst" "0.00553878" "03575" "LTBP4_000051" "g.41107428C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs185400394}" "Germline" "" "rs185400394" "0" "" "" "g.40601522C>T" "" "likely benign" "" "0000649986" "1" "30" "19" "41117300" "41117300" "subst" "0.00780165" "03575" "LTBP4_000042" "g.41117300G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs34093919}" "Germline" "" "rs34093919" "0" "" "" "g.40611394G>A" "" "likely benign" "" "0000649987" "1" "30" "19" "41125310" "41125310" "subst" "0.000519831" "03575" "LTBP4_000052" "g.41125310C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs78745792}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs78745792" "0" "" "" "g.40619405C>T" "" "likely benign" "" "0000649988" "1" "10" "19" "41128415" "41128415" "subst" "0.0391357" "03575" "LTBP4_000026" "g.41128415G>A" "233/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "233 heterozygous; {DB:CLININrs35079932}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs35079932" "0" "" "" "g.40622510G>A" "" "benign" "" "0000649989" "1" "30" "19" "41133192" "41133192" "subst" "0.0105902" "03575" "LTBP4_000033" "g.41133192A>T" "13/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs35809725}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs35809725" "0" "" "" "g.40627287A>T" "" "likely benign" "" "0000649990" "1" "10" "19" "41133653" "41133653" "subst" "0.00222555" "03575" "LTBP4_000053" "g.41133653C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs115718556}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs115718556" "0" "" "" "g.40627748C>T" "" "benign" "" "0000658574" "0" "50" "19" "41114155" "41114155" "subst" "0" "01943" "LTBP4_000054" "g.41114155C>G" "" "" "" "LTBP4(NM_001042544.1):c.1387C>G (p.P463A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40608249C>G" "" "VUS" "" "0000658575" "0" "30" "19" "41133759" "41133759" "subst" "2.3437E-5" "01804" "LTBP4_000055" "g.41133759G>C" "" "" "" "LTBP4(NM_001042544.1):c.4716G>C (p.(Val1573Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40627854G>C" "" "likely benign" "" "0000669478" "3" "10" "19" "41128415" "41128415" "subst" "0.0391357" "03575" "LTBP4_000026" "g.41128415G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs35079932}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs35079932" "0" "" "" "g.40622510G>A" "" "benign" "" "0000692794" "0" "50" "19" "41116501" "41116501" "subst" "0" "01943" "LTBP4_000057" "g.41116501G>A" "" "" "" "LTBP4(NM_001042544.1):c.1949G>A (p.G650D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808873" "0" "50" "19" "41114407" "41114407" "subst" "0.000605715" "01943" "LTBP4_000058" "g.41114407C>T" "" "" "" "LTBP4(NM_001042544.1):c.1525C>T (p.R509C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808874" "0" "50" "19" "41122881" "41122881" "subst" "8.12658E-6" "01943" "LTBP4_000059" "g.41122881G>C" "" "" "" "LTBP4(NM_001042544.1):c.3100G>C (p.A1034P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808875" "0" "30" "19" "41135438" "41135438" "subst" "0" "01943" "LTBP4_000060" "g.41135438G>A" "" "" "" "LTBP4(NM_001042544.1):c.4858G>A (p.A1620T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983470" "0" "30" "19" "41117886" "41117886" "subst" "0.00187987" "01804" "LTBP4_000061" "g.41117886C>T" "" "" "" "LTBP4(NM_001042545.2):c.2175C>T (p.(Cys725=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001023664" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023665" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023666" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023667" "3" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023668" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023669" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023670" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023671" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023672" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023673" "3" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023674" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023675" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023676" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023677" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023678" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023679" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023680" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023681" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023682" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023683" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023684" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023685" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023686" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023687" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023688" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023689" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023690" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023691" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023692" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023693" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023694" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023695" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023696" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023697" "3" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023698" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023699" "2" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023700" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023701" "3" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023702" "3" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs2303729" "0" "" "" "g.40605163G>A" "" "benign" "" "0001023703" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023704" "3" "10" "4" "41111069" "41128309" "=" "0" "00454" "LTBP4_000003" "g.41111069_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40605163_40622404=" "" "benign" "" "0001023705" "3" "10" "4" "41111069" "41111069" "subst" "0" "00454" "LTBP4_000001" "g.41111069G>A" "" "{PMID:Luce 2024:39674052}" "" "" 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"41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023750" "3" "10" "4" "41117869" "41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023751" "2" "10" "4" "41117869" "41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023752" "2" "10" "4" "41117869" "41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023753" "3" "10" "4" "41117869" "41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" 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"{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023769" "2" "10" "4" "41117869" "41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023770" "2" "10" "4" "41117869" "41117869" "subst" "0" "00454" "LTBP4_000004" "g.41117869A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1131620" "0" "" "" "g.40611963A>G" "" "benign" "" "0001023771" "2" "10" "4" "41117869" "41128309" "=" "0" "00454" "LTBP4_000005" "g.41117869_41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40611963_40622404=" "" "benign" "" "0001023772" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023773" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023774" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023775" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023776" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023777" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023778" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023779" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023780" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023781" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023782" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023783" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023784" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023785" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023786" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023787" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023788" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023789" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023790" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023791" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023792" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023793" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023794" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023795" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023796" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023797" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023798" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023799" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023800" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023801" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023802" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023803" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023804" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023805" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023806" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023807" "3" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023808" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023809" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023810" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023811" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023812" "2" "10" "4" "41118056" "41118056" "subst" "0" "00454" "LTBP4_000006" "g.41118056A>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1051303" "0" "" "" "g.40612150A>G" "" "benign" "" "0001023813" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023814" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023815" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023816" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023817" "3" "10" "4" "41128309" "41128309" "=" "0" "00454" "LTBP4_000008" "g.41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40622404=" "" "benign" "" "0001023818" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023819" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023820" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023821" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023822" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023823" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023824" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023825" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023826" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023827" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023828" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023829" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023830" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023831" "3" "10" "4" "41128309" "41128309" "=" "0" "00454" "LTBP4_000008" "g.41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40622404=" "" "benign" "" "0001023832" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023833" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023834" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023835" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023836" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023837" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023838" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023839" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023840" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023841" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023842" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023843" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023844" "3" "10" "4" "41128309" "41128309" "=" "0" "00454" "LTBP4_000008" "g.41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40622404=" "" "benign" "" "0001023845" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023846" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023847" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023848" "3" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023849" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023850" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023851" "3" "10" "4" "41128309" "41128309" "=" "0" "00454" "LTBP4_000008" "g.41128309=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.40622404=" "" "benign" "" "0001023852" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001023853" "2" "10" "4" "41128309" "41128309" "subst" "0" "00454" "LTBP4_000007" "g.41128309C>T" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs10880" "0" "" "" "g.40622404C>T" "" "benign" "" "0001042968" "0" "10" "19" "41117300" "41117300" "subst" "0.00780165" "02329" "LTBP4_000042" "g.41117300G>A" "" "" "" "LTBP4(NM_003573.2):c.2143G>A (p.D715N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001056670" "0" "50" "19" "41105463" "41105463" "subst" "0" "01804" "LTBP4_000062" "g.41105463G>A" "" "" "" "LTBP4(NM_001042544.1):c.341+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056671" "0" "50" "19" "41114182" "41114182" "subst" "0" "01804" "LTBP4_000063" "g.41114182C>T" "" "" "" "LTBP4(NM_001042545.2):c.1213C>T (p.(Leu405Phe))" "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 LTBP4 ## Count = 307 "{{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/Haplotype}}" "0000132215" "00011554" "50" "1415" "0" "1415" "0" "c.1415G>A" "r.(1415g>a)" "P.(Arg472His)" "12" "" "0000132262" "00011554" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448*)" "" "" "0000132263" "00011554" "90" "2408" "0" "2408" "0" "c.2408C>A" "r.(?)" "p.(Ser803*)" "" "" "0000132264" "00011554" "90" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p(.Gln1221*)" "" "" "0000132265" "00011554" "90" "780" "2" "780" "2" "c.780+2T>G" "r.spl" "p.?" "" "" "0000132266" "00011554" "90" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Cys422Alafs*352)" "" "" "0000132267" "00011554" "90" "1851" "0" "1851" "0" "c.1851C>A" "r.(?)" "p.(Cys617*)" "" "" "0000132268" "00011554" "90" "4127" "0" "4127" "0" "c.4127dup" "r.(?)" "p.(Arg1377Alafs*27)" "" "" "0000132269" "00011554" "90" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Arg1377*)" "" "" "0000132270" "00011554" "90" "3556" "0" "3556" "0" "c.3556T>C" "r.(?)" "p.(Cys1186Arg)" "" "" "0000132271" "00011554" "90" "4115" "0" "4115" "0" "c.4115dup" "r.(?)" "p.(Tyr1373IlefsTer2)" "" "" "0000132272" "00011554" "90" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Gln1296*)" "" "" "0000248325" "00011554" "10" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Thr750Ala)" "" "" "0000248325" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "" "0000248326" "00011554" "10" "2347" "0" "2347" "0" "c.2347A>G" "r.(?)" "p.(Thr783Ala)" "" "" "0000248326" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "" "0000250060" "00011554" "10" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Thr750Ala)" "" "" "0000250060" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "" "0000250061" "00011554" "10" "2347" "0" "2347" "0" "c.2347A>G" "r.(?)" "p.(Thr783Ala)" "" "" "0000250061" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "" "0000250176" "00011554" "10" "4388" "0" "4388" "0" "c.4388A>T" "r.(?)" "p.(Tyr1463Phe)" "" "" "0000250176" "00025978" "10" "4298" "0" "4298" "0" "c.4298A>T" "r.(?)" "p.(Tyr1433Phe)" "" "" "0000282351" "00011554" "10" "3122" "0" "3124" "0" "c.3122_3124=" "r.(=)" "p.(Gln1041=)" "" "" "0000282351" "00025978" "10" "3032" "0" "3034" "0" "c.3032_3034=" "r.(=)" "p.(Gln1011=)" "" "" "0000282352" "00011554" "10" "3311" "0" "3311" "0" "c.3311C>T" "r.(?)" "p.(Thr1104Met)" "" "" "0000282352" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "" "0000282353" "00011554" "10" "3777" "0" "3777" "0" "c.3777C>T" "r.(?)" "p.(Asp1259=)" "" "" "0000282353" "00025978" "10" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(Asp1229=)" "" "" "0000283601" "00011554" "10" "1390" "0" "1390" "0" "c.1390T>A" "r.(?)" "p.(Ser464Thr)" "" "" "0000283601" "00025978" "10" "1300" "0" "1300" "0" "c.1300T>A" "r.(?)" "p.(Ser434Thr)" "" "" "0000283602" "00011554" "10" "1792" "0" "1792" "0" "c.1792C>G" "r.(?)" "p.(Arg598Gly)" "" "" "0000283602" "00025978" "10" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Arg568Gly)" "" "" "0000283603" "00011554" "10" "2144" "-11" "2144" "-11" "c.2144-11C>A" "r.(=)" "p.(=)" "" "" "0000283603" "00025978" "10" "2054" "-11" "2054" "-11" "c.2054-11C>A" "r.(=)" "p.(=)" "" "" "0000283604" "00011554" "10" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Asp885=)" "" "" "0000283604" "00025978" "10" "2565" "0" "2565" "0" "c.2565C>T" "r.(?)" "p.(Asp855=)" "" "" "0000283606" "00011554" "10" "3311" "0" "3311" "0" "c.3311C>T" "r.(?)" "p.(Thr1104Met)" "" "" "0000283606" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "" "0000283607" "00011554" "10" "3417" "0" "3417" "0" "c.3417G>A" "r.(?)" "p.(Val1139=)" "" "" "0000283607" "00025978" "10" "3327" "0" "3327" "0" "c.3327G>A" "r.(?)" "p.(Val1109=)" "" "" "0000283608" "00011554" "10" "3777" "0" "3777" "0" "c.3777C>T" "r.(?)" "p.(Asp1259=)" "" "" "0000283608" "00025978" "10" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(Asp1229=)" "" "" "0000283609" "00011554" "10" "4610" "-18" "4610" "-18" "c.4610-18G>C" "r.(=)" "p.(=)" "" "" "0000283609" "00025978" "10" "4520" "-18" "4520" "-18" "c.4520-18G>C" "r.(=)" "p.(=)" "" "" "0000291249" "00011554" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Gly327=)" "" "" "0000291249" "00025978" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Gly297=)" "" "" "0000291250" "00011554" "30" "3663" "0" "3663" "0" "c.3663G>A" "r.(?)" "p.(Gln1221=)" "" "" "0000291250" "00025978" "30" "3573" "0" "3573" "0" "c.3573G>A" "r.(?)" "p.(Gln1191=)" "" "" "0000291251" "00011554" "30" "582" "0" "582" "0" "c.582G>C" "r.(?)" "p.(Ser194=)" "" "" "0000291251" "00025978" "30" "492" "0" "492" "0" "c.492G>C" "r.(?)" "p.(Ser164=)" "" "" "0000326505" "00011554" "30" "1517" "-8" "1517" "-8" "c.1517-8C>A" "r.(=)" "p.(=)" "" "" "0000326505" "00025978" "30" "1427" "-8" "1427" "-8" "c.1427-8C>A" "r.(=)" "p.(=)" "" "" "0000326507" "00011554" "30" "4017" "0" "4017" "0" "c.4017C>T" "r.(?)" "p.(Cys1339=)" "" "" "0000326507" "00025978" "30" "3927" "0" "3927" "0" "c.3927C>T" "r.(?)" "p.(Cys1309=)" "" "" "0000326510" "00011554" "50" "4201" "0" "4201" "0" "c.4201G>A" "r.(?)" "p.(Gly1401Arg)" "" "" "0000326510" "00025978" "50" "4111" "0" "4111" "0" "c.4111G>A" "r.(?)" "p.(Gly1371Arg)" "" "" "0000472482" "00011554" "90" "1450" "0" "1450" "0" "c.1450del" "r.(?)" "p.(Arg484Glyfs*290)" "" "" "0000567410" "00011554" "10" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Val157Ile)" "" "" "0000567410" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "" "0000567411" "00011554" "10" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Val157Ile)" "" "" "0000567411" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "" "0000567412" "00011554" "30" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436His)" "" "" "0000567412" "00025978" "30" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Arg406His)" "" "" "0000567413" "00011554" "10" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Gly443Asp)" "" "" "0000567413" "00025978" "10" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Gly413Asp)" "" "" "0000567416" "00011554" "10" "2058" "0" "2058" "0" "c.2058C>T" "r.(?)" "p.(Pro686=)" "" "" "0000567416" "00025978" "10" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Pro656=)" "" "" "0000567418" "00011554" "10" "2902" "6" "2902" "6" "c.2902+6C>T" "r.(=)" "p.(=)" "" "" "0000567418" "00025978" "10" "2812" "6" "2812" "6" "c.2812+6C>T" "r.(=)" "p.(=)" "" "" "0000567419" "00011554" "30" "2902" "6" "2902" "6" "c.2902+6C>T" "r.(=)" "p.(=)" "" "" "0000567419" "00025978" "30" "2812" "6" "2812" "6" "c.2812+6C>T" "r.(=)" "p.(=)" "" "" "0000567421" "00011554" "10" "3122" "0" "3124" "0" "c.3122_3124=" "r.(=)" "p.(Gln1041=)" "" "" "0000567421" "00025978" "10" "3032" "0" "3034" "0" "c.3032_3034=" "r.(=)" "p.(Gln1011=)" "" "" "0000567422" "00011554" "30" "3922" "8" "3922" "8" "c.3922+8C>T" "r.(=)" "p.(=)" "" "" "0000567422" "00025978" "30" "3832" "8" "3832" "8" "c.3832+8C>T" "r.(=)" "p.(=)" "" "" "0000567425" "00011554" "10" "4456" "8" "4456" "8" "c.4456+8C>T" "r.(=)" "p.(=)" "" "" "0000567425" "00025978" "10" "4366" "8" "4366" "8" "c.4366+8C>T" "r.(=)" "p.(=)" "" "" "0000617625" "00011554" "30" "2329" "0" "2329" "0" "c.2329G>A" "r.(?)" "p.(Gly777Ser)" "" "" "0000617625" "00025978" "30" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Gly747Ser)" "" "" "0000617626" "00011554" "50" "2837" "0" "2837" "0" "c.2837G>A" "r.(?)" "p.(Gly946Asp)" "" "" "0000617626" "00025978" "50" "2747" "0" "2747" "0" "c.2747G>A" "r.(?)" "p.(Gly916Asp)" "" "" "0000617627" "00011554" "90" "4051" "0" "4052" "0" "c.4051_4052dup" "r.(?)" "p.(Leu1352ProfsTer41)" "" "" "0000617627" "00025978" "90" "3961" "0" "3962" "0" "c.3961_3962dup" "r.(?)" "p.(Leu1322ProfsTer41)" "" "" "0000649985" "00011554" "30" "340" "1345" "340" "1345" "c.340+1345C>T" "r.(=)" "p.(=)" "" "" "0000649985" "00025978" "30" "135" "0" "135" "0" "c.135C>T" "" "p.?" "" "" "0000649986" "00011554" "30" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Asp715Asn)" "" "" "0000649986" "00025978" "30" "2053" "0" "2053" "0" "c.2053G>A" "" "p.?" "" "" "0000649987" "00011554" "30" "3218" "0" "3218" "0" "c.3218C>T" "" "" "" "" "0000649987" "00025978" "30" "3128" "0" "3128" "0" "c.3128C>T" "" "p.?" "" "" "0000649988" "00011554" "10" "3416" "0" "3416" "0" "c.3416G>A" "" "p.?" "" "" "0000649988" "00025978" "10" "3326" "0" "3326" "0" "c.3326G>A" "" "p.?" "" "" "0000649989" "00011554" "30" "4387" "0" "4387" "0" "c.4387A>T" "" "p.?" "" "" "0000649989" "00025978" "30" "4297" "0" "4297" "0" "c.4297A>T" "" "p.?" "" "" "0000649990" "00011554" "10" "4499" "0" "4499" "0" "c.4499C>T" "" "p.?" "" "" "0000649990" "00025978" "10" "4409" "0" "4409" "0" "c.4409C>T" "" "p.?" "" "" "0000658574" "00011554" "50" "1276" "0" "1276" "0" "c.1276C>G" "r.(?)" "p.(Pro426Ala)" "" "" "0000658574" "00025978" "50" "1186" "0" "1186" "0" "c.1186C>G" "r.(?)" "p.(Pro396Ala)" "" "" "0000658575" "00011554" "30" "4606" "0" "4606" "0" "c.4606G>C" "r.(?)" "p.(Val1536Leu)" "" "" "0000658575" "00025978" "30" "4516" "0" "4516" "0" "c.4516G>C" "r.(?)" "p.(Val1506Leu)" "" "" "0000669478" "00011554" "10" "3416" "0" "3416" "0" "c.3416G>A" "" "p.?" "" "" "0000669478" "00025978" "10" "3326" "0" "3326" "0" "c.3326G>A" "" "p.?" "" "" "0000692794" "00011554" "50" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Gly613Asp)" "" "" "0000692794" "00025978" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Gly583Asp)" "" "" "0000808873" "00011554" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Cys)" "" "" "0000808873" "00025978" "50" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "" "" "0000808874" "00011554" "50" "2989" "0" "2989" "0" "c.2989G>C" "r.(?)" "p.(Ala997Pro)" "" "" "0000808874" "00025978" "50" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Ala967Pro)" "" "" "0000808875" "00011554" "30" "4747" "0" "4747" "0" "c.4747G>A" "r.(?)" "p.(Ala1583Thr)" "" "" "0000808875" "00025978" "30" "4657" "0" "4657" "0" "c.4657G>A" "r.(?)" "p.(Ala1553Thr)" "" "" "0000983470" "00011554" "30" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Cys755=)" "" "" "0000983470" "00025978" "30" "2175" "0" "2175" "0" "c.2175C>T" "r.(?)" "p.?" "" "" "0001023664" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023665" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023666" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VAAT;IAAM" "0001023667" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAT;IAAM" "0001023668" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023669" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023670" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VAAM;IAAM" "0001023671" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023672" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023673" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAT;IAAT" "0001023674" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023675" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023676" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023677" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023678" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023679" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023680" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023681" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023682" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023683" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023684" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023685" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTM;IAAM" "0001023686" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023687" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023688" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023689" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023690" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023691" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023692" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023693" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023694" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023695" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAT" "0001023696" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023697" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAM" "0001023698" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023699" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;ITTT" "0001023700" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023701" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "ITTT;IAAM" "0001023702" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAM" "0001023703" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023704" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023705" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAM" "0001023706" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023707" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023708" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023709" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023710" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023711" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023712" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023713" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAT;IAAM" "0001023714" "00025978" "10" "379" "0" "379" "0" "c.379=" "r.(?)" "p.(Val127=)" "" "VTTT;VAAM" "0001023715" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAT" "0001023716" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAM" "0001023717" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VAAT;IAAM" "0001023718" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023719" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAM" "0001023720" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023721" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023722" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "IAAM" "0001023723" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023724" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023725" "00025978" "10" "379" "0" "3422" "0" "c.379_3422=" "r.(?)" "p.(Val127_Thr1074=)" "" "VTTT" "0001023726" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023727" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAT" "0001023728" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023729" "00025978" "10" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "" "VTTT;IAAM" "0001023730" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VAAT;IAAM" "0001023731" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAT;IAAM" "0001023732" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VAAM;IAAM" "0001023733" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023734" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAT;IAAT" "0001023735" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023736" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023737" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023738" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023739" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023740" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023741" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023742" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTM;IAAM" "0001023743" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023744" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023745" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023746" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023747" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023748" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAT" "0001023749" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023750" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAM" "0001023751" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023752" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "ITTT;IAAM" "0001023753" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAM" "0001023754" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAM" "0001023755" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023756" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023757" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023758" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023759" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAT;IAAM" "0001023760" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;VAAM" "0001023761" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAT" "0001023762" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAM" "0001023763" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VAAT;IAAM" "0001023764" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAM" "0001023765" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "IAAM" "0001023766" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023767" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023768" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAT" "0001023769" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023770" "00025978" "10" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Thr720Ala)" "" "VTTT;IAAM" "0001023771" "00025978" "10" "" "0" "" "0" "c.2158_3422=" "r.(=)" "p.(Thr720_Thr1074=)" "" "VTTT;ITTT" "0001023772" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VAAT;IAAM" "0001023773" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAT;IAAM" "0001023774" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VAAM;IAAM" "0001023775" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023776" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAT;IAAT" "0001023777" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023778" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023779" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023780" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023781" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023782" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023783" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023784" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTM;IAAM" "0001023785" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023786" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023787" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023788" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023789" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023790" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAT" "0001023791" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023792" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAM" "0001023793" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023794" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "ITTT;IAAM" "0001023795" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAM" "0001023796" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAM" "0001023797" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023798" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023799" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023800" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023801" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAT;IAAM" "0001023802" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;VAAM" "0001023803" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAT" "0001023804" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAM" "0001023805" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VAAT;IAAM" "0001023806" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAM" "0001023807" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "IAAM" "0001023808" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023809" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023810" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAT" "0001023811" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023812" "00025978" "10" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Thr753Ala)" "" "VTTT;IAAM" "0001023813" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VAAT;IAAM" "0001023814" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAT;IAAM" "0001023815" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VAAM;IAAM" "0001023816" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023817" "00025978" "10" "3221" "0" "3221" "0" "c.3221=" "r.(=)" "p.(Thr1074=)" "" "IAAT;IAAT" "0001023818" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023819" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023820" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023821" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023822" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023823" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023824" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023825" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTM;IAAM" "0001023826" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023827" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023828" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023829" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023830" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023831" "00025978" "10" "3221" "0" "3221" "0" "c.3221=" "r.(=)" "p.(Thr1074=)" "" "VTTT;IAAT" "0001023832" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023833" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAM" "0001023834" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023835" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "ITTT;IAAM" "0001023836" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAM" "0001023837" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAM" "0001023838" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023839" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023840" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023841" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023842" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAT;IAAM" "0001023843" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;VAAM" "0001023844" "00025978" "10" "3221" "0" "3221" "0" "c.3221=" "r.(=)" "p.(Thr1074=)" "" "VTTT;IAAT" "0001023845" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAM" "0001023846" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VAAT;IAAM" "0001023847" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAM" "0001023848" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "IAAM" "0001023849" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023850" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023851" "00025978" "10" "3221" "0" "3221" "0" "c.3221=" "r.(=)" "p.(Thr1074=)" "" "VTTT;IAAT" "0001023852" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001023853" "00025978" "10" "3221" "0" "3221" "0" "c.3221C>T" "r.(?)" "p.(Thr1074Met)" "" "VTTT;IAAM" "0001042968" "00011554" "10" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Asp715Asn)" "" "" "0001042968" "00025978" "10" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Asp685Asn)" "" "" "0001056670" "00011554" "50" "230" "1" "230" "1" "c.230+1G>A" "r.spl?" "p.?" "" "" "0001056670" "00025978" "50" "-1831" "0" "-1831" "0" "c.-1831G>A" "r.(?)" "p.(=)" "" "" "0001056671" "00011554" "50" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Leu435Phe)" "" "" "0001056671" "00025978" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.?" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 210 "{{screeningid}}" "{{variantid}}" "0000081557" "0000132215" "0000081595" "0000132262" "0000081595" "0000132271" "0000081596" "0000132263" "0000081597" "0000132264" "0000081597" "0000132272" "0000081598" "0000132265" "0000081599" "0000132266" "0000081600" "0000132267" "0000081601" "0000132268" "0000081602" "0000132269" "0000081603" "0000132270" "0000119573" "0001023726" "0000119573" "0001023767" "0000119573" "0001023809" "0000119573" "0001023850" "0000142141" "0001023711" "0000142141" "0001023758" "0000142141" "0001023800" "0000142141" "0001023841" "0000142155" "0001023722" "0000142155" "0001023765" "0000142155" "0001023807" "0000142155" "0001023848" "0000145538" "0001023724" "0000145541" "0001023723" "0000145541" "0001023766" "0000145541" "0001023808" "0000145541" "0001023849" "0000230776" "0000472482" "0000267557" "0001023715" "0000267557" "0001023761" "0000267557" "0001023803" "0000267557" "0001023844" "0000267562" "0001023717" "0000267562" "0001023763" "0000267562" "0001023805" "0000267562" "0001023846" "0000275632" "0001023727" "0000275632" "0001023768" "0000275632" "0001023810" "0000275632" "0001023851" "0000275640" "0001023712" "0000275658" "0001023728" "0000275658" "0001023769" "0000275658" "0001023811" "0000275658" "0001023852" "0000275665" "0001023725" "0000293296" "0000649985" "0000293297" "0000649986" "0000293298" "0000649987" "0000293299" "0000649988" "0000293300" "0000649989" "0000293301" "0000649990" "0000305790" "0000669478" "0000364182" "0001023729" "0000364182" "0001023770" "0000364182" "0001023812" "0000364182" "0001023853" "0000364196" "0001023721" "0000364204" "0001023718" "0000364230" "0001023714" "0000364230" "0001023760" "0000364230" "0001023802" "0000364230" "0001023843" "0000364234" "0001023716" "0000364234" "0001023762" "0000364234" "0001023804" "0000364234" "0001023845" "0000364274" "0001023713" "0000364274" "0001023759" "0000364274" "0001023801" "0000364274" "0001023842" "0000364289" "0001023719" "0000364289" "0001023764" "0000364289" "0001023806" "0000364289" "0001023847" "0000364332" "0001023720" "0000463765" "0001023664" "0000463766" "0001023665" "0000463767" "0001023666" "0000463767" "0001023730" "0000463767" "0001023772" "0000463767" "0001023813" "0000463768" "0001023667" "0000463768" "0001023731" "0000463768" "0001023773" "0000463768" "0001023814" "0000463769" "0001023668" "0000463770" "0001023669" "0000463771" "0001023670" "0000463771" "0001023732" "0000463771" "0001023774" "0000463771" "0001023815" "0000463772" "0001023671" "0000463773" "0001023672" "0000463773" "0001023733" "0000463773" "0001023775" "0000463773" "0001023816" "0000463774" "0001023673" "0000463774" "0001023734" "0000463774" "0001023776" "0000463774" "0001023817" "0000463775" "0001023674" "0000463775" "0001023735" "0000463775" "0001023777" "0000463775" "0001023818" "0000463776" "0001023675" "0000463776" "0001023736" "0000463776" "0001023778" "0000463776" 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