### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ILK) # 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}}" "ILK" "integrin-linked kinase" "11" "p15.4" "unknown" "LRG_444" "UD_132119021082" "" "http://www.LOVD.nl/ILK" "" "1" "6040" "3611" "602366" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 19:21:51" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010007" "ILK" "transcript variant 1" "001" "NM_004517.2" "" "NP_004508.1" "" "" "" "-181" "1618" "1359" "6624964" "6632101" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00064702" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "01y" "0" "" "" "" "" "00065131" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS055" "00286461" "" "" "" "1" "" "03383" "{PMID: Park 2019: 31748531}" "unknown phenotype/individual information (suggested sporadic, but not confirmed)" "?" "?" "" "" "0" "" "" "" "" "00286462" "" "" "" "1" "" "03383" "{PMID: Park 2019: 31748531}" "unknown individual/phenotype info (probable sporadic case but not confirmed)" "" "" "" "" "0" "" "" "" "" "00286463" "" "" "" "1" "" "03383" "{PMID: Park 2019: 31748531}" "unknown individual/phenotype information\r\n(probable sporadic, not confirmed)" "?" "?" "" "" "0" "" "" "" "" "00453183" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam131Pat150" "00453184" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam185Pat198" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00064702" "05166" "00065131" "02087" "00286461" "04240" "00286462" "04240" "00286463" "04240" "00453183" "04172" "00453184" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02087, 04172, 04240, 05166 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000051236" "02087" "00065131" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "0000053230" "05166" "00064702" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000341829" "04172" "00453183" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "0000341830" "04172" "00453184" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064841" "00064702" "1" "01601" "01601" "2016-05-10 10:58:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000065282" "00065131" "1" "01602" "01602" "2016-05-19 13:39:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000287625" "00286461" "1" "03383" "03383" "2020-02-10 20:19:08" "" "" "SEQ" "DNA" "" "direct sequencing" "0000287626" "00286462" "1" "03383" "03383" "2020-02-10 20:25:07" "" "" "SEQ" "DNA" "" "direct sequencing" "0000287627" "00286463" "1" "03383" "03383" "2020-02-10 20:28:35" "" "" "SEQ" "DNA" "" "direct sequencing" "0000454794" "00453183" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454795" "00453184" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000287625" "ILK" "0000287626" "ILK" "0000287627" "ILK" ## 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 = 101 "{{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}}" "0000096479" "0" "50" "11" "6630132" "6630132" "subst" "6.90316E-5" "01601" "ILK_000002" "g.6630132G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6608901G>A" "" "VUS" "" "0000096954" "0" "50" "11" "6630542" "6630542" "subst" "0.000930214" "01602" "ILK_000001" "g.6630542C>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs140322345" "0" "" "" "g.6609311C>T" "" "VUS" "" "0000248275" "0" "30" "11" "6625566" "6625566" "subst" "0.00114871" "02325" "ILK_000003" "g.6625566A>G" "" "" "" "ILK(NM_001014795.2):c.65A>G (p.N22S), ILK(NM_001014795.3):c.65A>G (p.N22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604336A>G" "" "likely benign" "" "0000249756" "0" "50" "11" "6630320" "6630320" "subst" "2.84245E-5" "02325" "ILK_000007" "g.6630320A>C" "" "" "" "ILK(NM_001014795.3):c.551A>C (p.K184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609089A>C" "" "VUS" "" "0000249845" "0" "50" "11" "6631691" "6631691" "subst" "2.43685E-5" "02325" "ILK_000020" "g.6631691A>G" "" "" "" "ILK(NM_001014795.3):c.1210-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610460A>G" "" "VUS" "" "0000251721" "0" "30" "11" "6625566" "6625566" "subst" "0.00114871" "02326" "ILK_000003" "g.6625566A>G" "" "" "" "ILK(NM_001014795.2):c.65A>G (p.N22S), ILK(NM_001014795.3):c.65A>G (p.N22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604336A>G" "" "likely benign" "" "0000251938" "0" "30" "11" "6630618" "6630618" "subst" "0.00030874" "02326" "ILK_000011" "g.6630618A>G" "" "" "" "ILK(NM_001014795.3):c.707A>G (p.N236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609387A>G" "" "likely benign" "" "0000251969" "0" "30" "11" "6630007" "6630007" "subst" "0.000698574" "02326" "ILK_000005" "g.6630007A>C" "" "" "" "ILK(NM_001014795.3):c.435A>C (p.R145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000252748" "0" "50" "11" "6630349" "6630349" "subst" "2.03037E-5" "02326" "ILK_000008" "g.6630349A>G" "" "" "" "ILK(NM_001014795.3):c.580A>G (p.N194D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609118A>G" "" "VUS" "" "0000253848" "0" "10" "11" "6631369" "6631369" "subst" "4.87322E-5" "01943" "ILK_000019" "g.6631369A>C" "" "" "" "ILK(NM_001014795.3):c.1079-10A>C, ILK(NM_004517.2):c.1079-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610138A>C" "" "benign" "" "0000255637" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "01943" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6615199A>C" "" "pathogenic" "" "0000281532" "0" "30" "11" "6630542" "6630542" "subst" "0.000930214" "02325" "ILK_000001" "g.6630542C>T" "" "" "" "ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609311C>T" "" "likely benign" "" "0000281533" "0" "50" "11" "6630566" "6630566" "subst" "3.25E-5" "02325" "ILK_000010" "g.6630566G>A" "" "" "" "ILK(NM_001014795.3):c.655G>A (p.V219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609335G>A" "" "VUS" "" "0000281534" "0" "30" "11" "6630652" "6630652" "subst" "2.84437E-5" "02325" "ILK_000012" "g.6630652G>A" "" "" "" "ILK(NM_001014795.3):c.728+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609421G>A" "" "likely benign" "" "0000281535" "0" "30" "11" "6630962" "6630962" "subst" "0.000186785" "02325" "ILK_000015" "g.6630962C>T" "" "" "" "ILK(NM_001014795.3):c.864C>T (p.V288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609731C>T" "" "likely benign" "" "0000281536" "0" "30" "11" "6631025" "6631025" "subst" "0" "02325" "ILK_000017" "g.6631025C>T" "" "" "" "ILK(NM_001014795.3):c.927C>T (p.H309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609794C>T" "" "likely benign" "" "0000285284" "0" "10" "11" "6631361" "6631361" "subst" "0.015123" "02326" "ILK_000018" "g.6631361C>T" "" "" "" "ILK(NM_004517.2):c.1079-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610130C>T" "" "benign" "" "0000285285" "0" "30" "11" "6630524" "6630524" "subst" "0.000865171" "02326" "ILK_000009" "g.6630524C>T" "" "" "" "ILK(NM_001014795.3):c.619-6C>T, ILK(NM_004517.2):c.619-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609293C>T" "" "likely benign" "" "0000285286" "0" "30" "11" "6630542" "6630542" "subst" "0.000930214" "02326" "ILK_000001" "g.6630542C>T" "" "" "" "ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609311C>T" "" "likely benign" "" "0000289606" "0" "10" "11" "6631361" "6631361" "subst" "0.015123" "01943" "ILK_000018" "g.6631361C>T" "" "" "" "ILK(NM_004517.2):c.1079-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610130C>T" "" "benign" "" "0000289607" "0" "10" "11" "6629665" "6629665" "subst" "0.261344" "01943" "ILK_000004" "g.6629665C>T" "" "" "" "ILK(NM_004517.2):c.297C>T (p.H99=), ILK(NM_004517.4):c.297C>T (p.H99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6608435C>T" "" "benign" "" "0000289608" "0" "10" "11" "6630109" "6630109" "subst" "0" "01943" "ILK_000006" "g.6630109C>T" "" "" "" "ILK(NM_004517.2):c.449-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6608878C>T" "" "benign" "" "0000289609" "0" "10" "11" "6630666" "6630666" "subst" "0.000593207" "01943" "ILK_000013" "g.6630666G>C" "" "" "" "ILK(NM_004517.2):c.728+27G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609435G>C" "" "benign" "" "0000289610" "0" "10" "11" "6630833" "6630833" "subst" "0.269612" "01943" "ILK_000014" "g.6630833G>A" "" "" "" "ILK(NM_004517.2):c.819G>A (p.P273=), ILK(NM_004517.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609602G>A" "" "benign" "" "0000289611" "0" "10" "11" "6631016" "6631016" "subst" "0.229201" "01943" "ILK_000016" "g.6631016C>T" "" "" "" "ILK(NM_004517.2):c.918C>T (p.A306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6609785C>T" "" "benign" "" "0000312015" "0" "30" "11" "6636444" "6636444" "subst" "4.46679E-5" "02325" "TPP1_000126" "g.6636444C>T" "" "" "" "TPP1(NM_000391.4):c.1383G>A (p.V461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6615213C>T" "" "likely benign" "" "0000312016" "0" "10" "11" "6636106" "6636106" "subst" "0.19033" "02325" "TPP1_000004" "g.6636106T>A" "" "" "" "TPP1(NM_000391.3):c.1542A>T (p.G514=), TPP1(NM_000391.4):c.1542A>T (p.G514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614875T>A" "" "benign" "" "0000312017" "0" "50" "11" "6635871" "6635871" "subst" "4.06068E-6" "02325" "TPP1_000125" "g.6635871C>T" "" "" "" "TPP1(NM_000391.4):c.1598G>A (p.G533D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614640C>T" "" "VUS" "" "0000314807" "0" "30" "11" "6636668" "6636668" "subst" "0.00474315" "02326" "TPP1_000005" "g.6636668C>T" "" "" "" "TPP1(NM_000391.3):c.1266+5G>A (p.?), TPP1(NM_000391.4):c.1266+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6615437C>T" "" "likely benign" "" "0000316974" "0" "10" "11" "6636106" "6636106" "subst" "0.19033" "01943" "TPP1_000004" "g.6636106T>A" "" "" "" "TPP1(NM_000391.3):c.1542A>T (p.G514=), TPP1(NM_000391.4):c.1542A>T (p.G514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614875T>A" "" "benign" "" "0000316975" "0" "30" "11" "6635816" "6635816" "subst" "0.000134009" "01943" "TPP1_000124" "g.6635816G>C" "" "" "" "TPP1(NM_000391.3):c.1653C>G (p.P551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614585G>C" "" "likely benign" "" "0000345160" "0" "50" "11" "6630124" "6630124" "subst" "4.06062E-6" "02327" "ILK_000021" "g.6630124A>G" "" "" "" "ILK(NM_001014794.2):c.458A>G (p.(Glu153Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6608893A>G" "" "VUS" "" "0000347205" "0" "50" "11" "6636105" "6636105" "subst" "0.00012184" "02327" "TPP1_000148" "g.6636105G>A" "" "" "" "TPP1(NM_000391.3):c.1543C>T (p.(Leu515Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6614874G>A" "" "VUS" "" "0000545073" "0" "30" "11" "6625566" "6625566" "subst" "0.00114871" "01943" "ILK_000003" "g.6625566A>G" "" "" "" "ILK(NM_001014795.2):c.65A>G (p.N22S), ILK(NM_001014795.3):c.65A>G (p.N22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604336A>G" "" "likely benign" "" "0000545106" "0" "50" "11" "6629280" "6629280" "subst" "8.12308E-6" "01943" "RRP8_000001" "g.6629280G>A" "" "" "" "ILK(NM_001014795.2):c.94G>A (p.D32N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608050G>A" "" "VUS" "" "0000545120" "0" "10" "11" "6630033" "6630033" "del" "0" "01943" "TAF10_000001" "g.6630033del" "" "" "" "ILK(NM_001014795.3):c.448+13delC, ILK(NM_004517.2):c.448+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000545121" "0" "30" "11" "6630033" "6630033" "del" "0" "02325" "TAF10_000001" "g.6630033del" "" "" "" "ILK(NM_001014795.3):c.448+13delC, ILK(NM_004517.2):c.448+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000545122" "0" "50" "11" "6630124" "6630124" "subst" "4.06062E-6" "01804" "ILK_000021" "g.6630124A>G" "" "" "" "ILK(NM_001014794.2):c.458A>G (p.(Glu153Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608893A>G" "" "VUS" "" "0000545123" "0" "30" "11" "6630184" "6630184" "subst" "2.8425E-5" "01804" "TAF10_000002" "g.6630184C>T" "" "" "" "ILK(NM_001014794.2):c.518C>T (p.(Thr173Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608953C>T" "" "likely benign" "" "0000545124" "0" "50" "11" "6630187" "6630187" "subst" "2.8425E-5" "02325" "TAF10_000003" "g.6630187G>A" "" "" "" "ILK(NM_001014795.3):c.521G>A (p.R174H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608956G>A" "" "VUS" "" "0000545125" "0" "50" "11" "6630320" "6630320" "subst" "2.84245E-5" "02326" "ILK_000007" "g.6630320A>C" "" "" "" "ILK(NM_001014795.3):c.551A>C (p.K184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609089A>C" "" "VUS" "" "0000545126" "0" "50" "11" "6630364" "6630364" "subst" "0" "02326" "TAF10_000004" "g.6630364C>T" "" "" "" "ILK(NM_001014795.3):c.595C>T (p.L199F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609133C>T" "" "VUS" "" "0000545127" "0" "10" "11" "6630410" "6630410" "subst" "0.211286" "01943" "TAF10_000005" "g.6630410T>C" "" "" "" "ILK(NM_004517.2):c.618+23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609179T>C" "" "benign" "" "0000545128" "0" "30" "11" "6630542" "6630542" "subst" "0.000930214" "01943" "ILK_000001" "g.6630542C>T" "" "" "" "ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609311C>T" "" "likely benign" "" "0000545129" "0" "50" "11" "6630632" "6630632" "subst" "2.03156E-5" "02325" "TAF10_000006" "g.6630632C>T" "" "" "" "ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609401C>T" "" "VUS" "" "0000545130" "0" "50" "11" "6630632" "6630632" "subst" "2.03156E-5" "02326" "TAF10_000006" "g.6630632C>T" "" "" "" "ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609401C>T" "" "VUS" "" "0000545131" "0" "50" "11" "6630832" "6630832" "subst" "4.06085E-6" "02326" "TAF10_000007" "g.6630832C>T" "" "" "" "ILK(NM_001014795.3):c.818C>T (p.P273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609601C>T" "" "VUS" "" "0000545132" "0" "10" "11" "6630943" "6630943" "subst" "0.000422304" "02326" "TAF10_000008" "g.6630943G>A" "" "" "" "ILK(NM_001014795.3):c.857-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609712G>A" "" "benign" "" "0000545133" "0" "30" "11" "6631060" "6631060" "subst" "8.93372E-5" "01943" "TAF10_000009" "g.6631060A>G" "" "" "" "ILK(NM_001014795.2):c.962A>G (p.N321S), ILK(NM_001014795.3):c.962A>G (p.N321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609829A>G" "" "likely benign" "" "0000545134" "0" "50" "11" "6631060" "6631060" "subst" "8.93372E-5" "02326" "TAF10_000009" "g.6631060A>G" "" "" "" "ILK(NM_001014795.2):c.962A>G (p.N321S), ILK(NM_001014795.3):c.962A>G (p.N321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609829A>G" "" "VUS" "" "0000545135" "0" "30" "11" "6631234" "6631234" "subst" "0.000105623" "01943" "TAF10_000010" "g.6631234G>A" "" "" "" "ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610003G>A" "" "likely benign" "" "0000545136" "0" "50" "11" "6631234" "6631234" "subst" "0.000105623" "02325" "TAF10_000010" "g.6631234G>A" "" "" "" "ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610003G>A" "" "VUS" "" "0000545137" "0" "30" "11" "6631369" "6631369" "subst" "4.87322E-5" "02326" "ILK_000019" "g.6631369A>C" "" "" "" "ILK(NM_001014795.3):c.1079-10A>C, ILK(NM_004517.2):c.1079-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610138A>C" "" "likely benign" "" "0000545141" "0" "30" "11" "6633350" "6633350" "subst" "0" "01804" "TAF10_000011" "g.6633350G>A" "" "" "" "TAF10(NM_006284.3):c.71C>T (p.(Ala24Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6612119G>A" "" "likely benign" "" "0000545148" "0" "30" "11" "6635926" "6635926" "subst" "0.000113705" "01943" "TAF10_000012" "g.6635926G>A" "" "" "" "TPP1(NM_000391.3):c.1552-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614695G>A" "" "likely benign" "" "0000545149" "0" "30" "11" "6636105" "6636105" "subst" "0.00012184" "01804" "TPP1_000148" "g.6636105G>A" "" "" "" "TPP1(NM_000391.3):c.1543C>T (p.(Leu515Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614874G>A" "" "likely benign" "" "0000545151" "0" "50" "11" "6636168" "6636168" "subst" "0" "02325" "TAF10_000014" "g.6636168G>A" "" "" "" "TPP1(NM_000391.4):c.1480C>T (p.L494F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614937G>A" "" "VUS" "" "0000545152" "0" "30" "11" "6636228" "6636228" "subst" "8.12183E-6" "01943" "TAF10_000015" "g.6636228A>G" "" "" "" "TPP1(NM_000391.3):c.1426-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6614997A>G" "" "likely benign" "" "0000545153" "0" "10" "11" "6636286" "6636286" "subst" "0" "02326" "TPP1_000117" "g.6636286T>C" "" "" "" "TPP1(NM_000391.4):c.1426-64A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615055T>C" "" "benign" "" "0000545154" "0" "70" "11" "6636430" "6636430" "subst" "4.06068E-6" "02327" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615199A>C" "" "likely pathogenic" "" "0000545156" "0" "50" "11" "6636499" "6636499" "subst" "5.27872E-5" "02325" "TAF10_000017" "g.6636499T>C" "" "" "" "TPP1(NM_000391.4):c.1328A>G (p.N443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615268T>C" "" "VUS" "" "0000545157" "0" "30" "11" "6636668" "6636668" "subst" "0.00474315" "01804" "TPP1_000005" "g.6636668C>T" "" "" "" "TPP1(NM_000391.3):c.1266+5G>A (p.?), TPP1(NM_000391.4):c.1266+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615437C>T" "" "likely benign" "" "0000545158" "0" "10" "11" "6636686" "6636686" "subst" "0.00116951" "01943" "TAF10_000018" "g.6636686C>T" "" "" "" "TPP1(NM_000391.3):c.1253G>A (p.R418Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615455C>T" "" "benign" "" "0000545159" "0" "50" "11" "6636687" "6636687" "subst" "6.49741E-5" "01943" "TAF10_000019" "g.6636687G>A" "" "" "" "TPP1(NM_000391.3):c.1252C>T (p.R418W), TPP1(NM_000391.4):c.1252C>T (p.(Arg418Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615456G>A" "" "VUS" "" "0000613580" "0" "50" "11" "6625562" "6625562" "subst" "0" "02327" "RRP8_000002" "g.6625562G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604332G>C" "" "VUS" "" "0000613587" "0" "50" "11" "6630114" "6630114" "subst" "0" "01943" "TAF10_000021" "g.6630114G>C" "" "" "" "ILK(NM_004517.2):c.449-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608883G>C" "" "VUS" "" "0000613588" "0" "50" "11" "6630132" "6630132" "subst" "6.90316E-5" "02327" "ILK_000002" "g.6630132G>A" "" "" "" "ILK(NM_004517.4):c.466G>A (p.G156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608901G>A" "" "VUS" "" "0000613589" "0" "30" "11" "6631689" "6631689" "subst" "0.000300561" "02327" "TAF10_000022" "g.6631689G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610458G>A" "" "likely benign" "" "0000613592" "0" "30" "11" "6636721" "6636721" "subst" "4.06105E-5" "01943" "TAF10_000023" "g.6636721A>G" "" "" "" "TPP1(NM_000391.3):c.1218T>C (p.Y406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6615490A>G" "" "likely benign" "" "0000622683" "0" "50" "11" "6625579" "6625579" "subst" "0" "02325" "RRP8_000003" "g.6625579C>A" "" "" "" "ILK(NM_001014795.3):c.78C>A (p.D26E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604349C>A" "" "VUS" "" "0000622684" "0" "50" "11" "6630632" "6630632" "subst" "2.03156E-5" "01943" "TAF10_000006" "g.6630632C>T" "" "" "" "ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6609401C>T" "" "VUS" "" "0000643424" "0" "70" "11" "6630542" "6630542" "subst" "0.000930214" "03383" "ILK_000001" "g.6630542C>T" "0.084" "{PMID: Park 2019: 31748531}" "" "" "cohort mostly consisting of sporadic cases (not confirmed)" "De novo" "" "" "0" "" "" "g.6609311C>T" "" "VUS" "" "0000643425" "0" "90" "11" "6629343" "6629343" "subst" "0.000393886" "03383" "ILK_000004" "g.6629343T>A" "0.035" "{PMID: Park 2019: 31748531}" "" "" "probable sporadic (not confirmed)" "Unknown" "" "" "0" "" "" "g.6608113T>A" "" "pathogenic (dominant)" "" "0000643426" "0" "90" "11" "6631048" "6631048" "subst" "1.21824E-5" "03383" "ILK_000003" "g.6631048G>A" "" "" "" "" "most cases sporadic in cohort (not confirmed)\r\n0.0016% frequency ExAC" "Unknown" "" "" "0" "" "" "g.6609817G>A" "" "pathogenic (dominant)" "" "0000656864" "0" "50" "11" "6629353" "6629353" "subst" "0" "02326" "RRP8_000004" "g.6629353G>T" "" "" "" "ILK(NM_001014795.3):c.167G>T (p.R56L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6608123G>T" "" "VUS" "" "0000679277" "0" "50" "11" "6629343" "6629343" "subst" "0.000393886" "01943" "ILK_000004" "g.6629343T>A" "" "" "" "ILK(NM_004517.2):c.157T>A (p.L53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679278" "0" "50" "11" "6629376" "6629376" "subst" "0" "02326" "ILK_000022" "g.6629376A>C" "" "" "" "ILK(NM_001014795.3):c.190A>C (p.N64H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679279" "0" "30" "11" "6629920" "6629920" "subst" "0" "01943" "ILK_000023" "g.6629920C>G" "" "" "" "ILK(NM_004517.2):c.352-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679280" "0" "50" "11" "6630132" "6630132" "subst" "6.90316E-5" "02325" "ILK_000002" "g.6630132G>A" "" "" "" "ILK(NM_004517.4):c.466G>A (p.G156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679281" "0" "50" "11" "6631234" "6631234" "subst" "0.000105623" "02326" "TAF10_000010" "g.6631234G>A" "" "" "" "ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679282" "0" "50" "11" "6631386" "6631386" "subst" "1.62433E-5" "01943" "ILK_000024" "g.6631386G>C" "" "" "" "ILK(NM_004517.2):c.1086G>C (p.Q362H), ILK(NM_004517.4):c.1086G>C (p.(Gln362His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679283" "0" "50" "11" "6631436" "6631436" "subst" "4.06068E-6" "01943" "ILK_000025" "g.6631436C>T" "" "" "" "ILK(NM_004517.2):c.1136C>T (p.A379V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679284" "0" "30" "11" "6636154" "6636154" "subst" "0.00867005" "01943" "TAF10_000024" "g.6636154G>A" "" "" "" "TPP1(NM_000391.3):c.1494C>T (p.P498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679285" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "02325" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691133" "0" "50" "11" "6630601" "6630604" "del" "0" "01943" "ILK_000026" "g.6630601_6630604del" "" "" "" "ILK(NM_004517.2):c.690_693delGAAG (p.K231Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723607" "0" "30" "11" "6629650" "6629650" "subst" "0.00017055" "02326" "ILK_000027" "g.6629650T>C" "" "" "" "ILK(NM_004517.2):c.282T>C (p.N94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723611" "0" "30" "11" "6636431" "6636431" "subst" "0.000739032" "02326" "TAF10_000016" "g.6636431C>T" "" "" "" "TPP1(NM_000391.4):c.1396G>A (p.V466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805290" "0" "50" "11" "6630558" "6630558" "subst" "2.03092E-5" "02325" "ILK_000028" "g.6630558A>G" "" "" "" "ILK(NM_004517.2):c.647A>G (p.D216G), ILK(NM_004517.4):c.647A>G (p.D216G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805291" "0" "50" "11" "6631831" "6631831" "subst" "0" "01943" "ILK_000029" "g.6631831C>A" "" "" "" "ILK(NM_004517.2):c.1348C>A (p.Q450K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805294" "0" "30" "11" "6636232" "6636232" "subst" "0.000113707" "01943" "ILK_000030" "g.6636232T>C" "" "" "" "TPP1(NM_000391.3):c.1426-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853097" "0" "30" "11" "6630524" "6630524" "subst" "0.000865171" "01943" "ILK_000009" "g.6630524C>T" "" "" "" "ILK(NM_001014795.3):c.619-6C>T, ILK(NM_004517.2):c.619-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853098" "0" "50" "11" "6630558" "6630558" "subst" "2.03092E-5" "01943" "ILK_000028" "g.6630558A>G" "" "" "" "ILK(NM_004517.2):c.647A>G (p.D216G), ILK(NM_004517.4):c.647A>G (p.D216G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853099" "0" "50" "11" "6631066" "6631066" "subst" "1.21828E-5" "02325" "ILK_000031" "g.6631066G>A" "" "" "" "ILK(NM_004517.4):c.968G>A (p.R323H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890094" "0" "90" "11" "6636430" "6636430" "subst" "4.06068E-6" "02326" "TPP1_000113" "g.6636430A>C" "" "" "" "TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913665" "0" "10" "11" "6629665" "6629665" "subst" "0.261344" "02325" "ILK_000004" "g.6629665C>T" "" "" "" "ILK(NM_004517.2):c.297C>T (p.H99=), ILK(NM_004517.4):c.297C>T (p.H99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913666" "0" "10" "11" "6630833" "6630833" "subst" "0.269612" "02325" "ILK_000014" "g.6630833G>A" "" "" "" "ILK(NM_004517.2):c.819G>A (p.P273=), ILK(NM_004517.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989695" "0" "50" "11" "6629645" "6629645" "subst" "2.03039E-5" "02515" "ILK_000032" "g.6629645A>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs777569798" "0" "" "" "g.6608415A>G" "" "VUS" "" "0000989696" "0" "50" "11" "6631060" "6631060" "subst" "8.93372E-5" "02515" "TAF10_000009" "g.6631060A>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs570806647" "0" "" "" "g.6609829A>G" "" "VUS" "" "0001026052" "0" "50" "11" "6629353" "6629353" "subst" "0" "02327" "RRP8_000004" "g.6629353G>T" "" "" "" "ILK(NM_001014795.3):c.167G>T (p.R56L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038626" "0" "50" "11" "6636687" "6636687" "subst" "6.49741E-5" "01804" "TAF10_000019" "g.6636687G>A" "" "" "" "TPP1(NM_000391.3):c.1252C>T (p.R418W), TPP1(NM_000391.4):c.1252C>T (p.(Arg418Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053796" "0" "50" "11" "6631386" "6631386" "subst" "1.62433E-5" "01804" "ILK_000024" "g.6631386G>C" "" "" "" "ILK(NM_004517.2):c.1086G>C (p.Q362H), ILK(NM_004517.4):c.1086G>C (p.(Gln362His))" "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 ILK ## Count = 101 "{{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}}" "0000096479" "00010007" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Ser)" "6" "0000096954" "00010007" "50" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "8" "0000248275" "00010007" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Asn22Ser)" "" "0000249756" "00010007" "50" "551" "0" "551" "0" "c.551A>C" "r.(?)" "p.(Lys184Thr)" "" "0000249845" "00010007" "50" "1210" "-2" "1210" "-2" "c.1210-2A>G" "r.spl?" "p.?" "" "0000251721" "00010007" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Asn22Ser)" "" "0000251938" "00010007" "30" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Asn236Ser)" "" "0000251969" "00010007" "30" "435" "0" "435" "0" "c.435A>C" "r.(?)" "p.(Arg145Ser)" "" "0000252748" "00010007" "50" "580" "0" "580" "0" "c.580A>G" "r.(?)" "p.(Asn194Asp)" "" "0000253848" "00010007" "10" "1079" "-10" "1079" "-10" "c.1079-10A>C" "r.(=)" "p.(=)" "" "0000255637" "00010007" "90" "5947" "0" "5947" "0" "c.*4588A>C" "r.(=)" "p.(=)" "" "0000281532" "00010007" "30" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000281533" "00010007" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Met)" "" "0000281534" "00010007" "30" "728" "13" "728" "13" "c.728+13G>A" "r.(=)" "p.(=)" "" "0000281535" "00010007" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Val288=)" "" "0000281536" "00010007" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(His309=)" "" "0000285284" "00010007" "10" "1079" "-18" "1079" "-18" "c.1079-18C>T" "r.(=)" "p.(=)" "" "0000285285" "00010007" "30" "619" "-6" "619" "-6" "c.619-6C>T" "r.(=)" "p.(=)" "" "0000285286" "00010007" "30" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000289606" "00010007" "10" "1079" "-18" "1079" "-18" "c.1079-18C>T" "r.(=)" "p.(=)" "" "0000289607" "00010007" "10" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(His99=)" "" "0000289608" "00010007" "10" "449" "-6" "449" "-6" "c.449-6C>T" "r.(=)" "p.(=)" "" "0000289609" "00010007" "10" "728" "27" "728" "27" "c.728+27G>C" "r.(=)" "p.(=)" "" "0000289610" "00010007" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "0000289611" "00010007" "10" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Ala306=)" "" "0000312015" "00010007" "30" "5961" "0" "5961" "0" "c.*4602C>T" "r.(=)" "p.(=)" "" "0000312016" "00010007" "10" "5623" "0" "5623" "0" "c.*4264T>A" "r.(=)" "p.(=)" "" "0000312017" "00010007" "50" "5388" "0" "5388" "0" "c.*4029C>T" "r.(=)" "p.(=)" "" "0000314807" "00010007" "30" "6185" "0" "6185" "0" "c.*4826C>T" "r.(=)" "p.(=)" "" "0000316974" "00010007" "10" "5623" "0" "5623" "0" "c.*4264T>A" "r.(=)" "p.(=)" "" "0000316975" "00010007" "30" "5333" "0" "5333" "0" "c.*3974G>C" "r.(=)" "p.(=)" "" "0000345160" "00010007" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Glu153Gly)" "" "0000347205" "00010007" "50" "5622" "0" "5622" "0" "c.*4263G>A" "r.(=)" "p.(=)" "" "0000545073" "00010007" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Asn22Ser)" "" "0000545106" "00010007" "50" "94" "0" "94" "0" "c.94G>A" "r.(?)" "p.(Asp32Asn)" "" "0000545120" "00010007" "10" "448" "13" "448" "13" "c.448+13del" "r.(=)" "p.(=)" "" "0000545121" "00010007" "30" "448" "13" "448" "13" "c.448+13del" "r.(=)" "p.(=)" "" "0000545122" "00010007" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Glu153Gly)" "" "0000545123" "00010007" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Ile)" "" "0000545124" "00010007" "50" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174His)" "" "0000545125" "00010007" "50" "551" "0" "551" "0" "c.551A>C" "r.(?)" "p.(Lys184Thr)" "" "0000545126" "00010007" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Leu199Phe)" "" "0000545127" "00010007" "10" "618" "23" "618" "23" "c.618+23T>C" "r.(=)" "p.(=)" "" "0000545128" "00010007" "30" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000545129" "00010007" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "0000545130" "00010007" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "0000545131" "00010007" "50" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Pro273Leu)" "" "0000545132" "00010007" "10" "857" "-12" "857" "-12" "c.857-12G>A" "r.(=)" "p.(=)" "" "0000545133" "00010007" "30" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0000545134" "00010007" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0000545135" "00010007" "30" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "" "0000545136" "00010007" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "" "0000545137" "00010007" "30" "1079" "-10" "1079" "-10" "c.1079-10A>C" "r.(=)" "p.(=)" "" "0000545141" "00010007" "30" "2867" "0" "2867" "0" "c.*1508G>A" "r.(=)" "p.(=)" "" "0000545148" "00010007" "30" "5443" "0" "5443" "0" "c.*4084G>A" "r.(=)" "p.(=)" "" "0000545149" "00010007" "30" "5622" "0" "5622" "0" "c.*4263G>A" "r.(=)" "p.(=)" "" "0000545151" "00010007" "50" "5685" "0" "5685" "0" "c.*4326G>A" "r.(=)" "p.(=)" "" "0000545152" "00010007" "30" "5745" "0" "5745" "0" "c.*4386A>G" "r.(=)" "p.(=)" "" "0000545153" "00010007" "10" "5803" "0" "5803" "0" "c.*4444T>C" "r.(=)" "p.(=)" "" "0000545154" "00010007" "70" "5947" "0" "5947" "0" "c.*4588A>C" "r.(=)" "p.(=)" "" "0000545156" "00010007" "50" "6016" "0" "6016" "0" "c.*4657T>C" "r.(=)" "p.(=)" "" "0000545157" "00010007" "30" "6185" "0" "6185" "0" "c.*4826C>T" "r.(=)" "p.(=)" "" "0000545158" "00010007" "10" "6203" "0" "6203" "0" "c.*4844C>T" "r.(=)" "p.(=)" "" "0000545159" "00010007" "50" "6204" "0" "6204" "0" "c.*4845G>A" "r.(=)" "p.(=)" "" "0000613580" "00010007" "50" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Asp21His)" "" "0000613587" "00010007" "50" "449" "-1" "449" "-1" "c.449-1G>C" "r.spl?" "p.?" "" "0000613588" "00010007" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Ser)" "" "0000613589" "00010007" "30" "1210" "-4" "1210" "-4" "c.1210-4G>A" "r.spl?" "p.?" "" "0000613592" "00010007" "30" "6238" "0" "6238" "0" "c.*4879A>G" "r.(=)" "p.(=)" "" "0000622683" "00010007" "50" "78" "0" "78" "0" "c.78C>A" "r.(?)" "p.(Asp26Glu)" "" "0000622684" "00010007" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "0000643424" "00010007" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000643425" "00010007" "90" "157" "0" "157" "0" "c.157T>A" "r.(?)" "p.(Leu53Met)" "" "0000643426" "00010007" "90" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317Gln)" "" "0000656864" "00010007" "50" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Arg56Leu)" "" "0000679277" "00010007" "50" "157" "0" "157" "0" "c.157T>A" "r.(?)" "p.(Leu53Met)" "" "0000679278" "00010007" "50" "190" "0" "190" "0" "c.190A>C" "r.(?)" "p.(Asn64His)" "" "0000679279" "00010007" "30" "352" "-4" "352" "-4" "c.352-4C>G" "r.spl?" "p.?" "" "0000679280" "00010007" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Ser)" "" "0000679281" "00010007" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "" "0000679282" "00010007" "50" "1086" "0" "1086" "0" "c.1086G>C" "r.(?)" "p.(Gln362His)" "" "0000679283" "00010007" "50" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Ala379Val)" "" "0000679284" "00010007" "30" "5671" "0" "5671" "0" "c.*4312G>A" "r.(=)" "p.(=)" "" "0000679285" "00010007" "90" "5947" "0" "5947" "0" "c.*4588A>C" "r.(=)" "p.(=)" "" "0000691133" "00010007" "50" "690" "0" "693" "0" "c.690_693del" "r.(?)" "p.(Lys231AlafsTer23)" "" "0000723607" "00010007" "30" "282" "0" "282" "0" "c.282T>C" "r.(?)" "p.(Asn94=)" "" "0000723611" "00010007" "30" "5948" "0" "5948" "0" "c.*4589C>T" "r.(=)" "p.(=)" "" "0000805290" "00010007" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asp216Gly)" "" "0000805291" "00010007" "50" "1348" "0" "1348" "0" "c.1348C>A" "r.(?)" "p.(Gln450Lys)" "" "0000805294" "00010007" "30" "5749" "0" "5749" "0" "c.*4390T>C" "r.(=)" "p.(=)" "" "0000853097" "00010007" "30" "619" "-6" "619" "-6" "c.619-6C>T" "r.(=)" "p.(=)" "" "0000853098" "00010007" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asp216Gly)" "" "0000853099" "00010007" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323His)" "" "0000890094" "00010007" "90" "5947" "0" "5947" "0" "c.*4588A>C" "r.(=)" "p.(=)" "" "0000913665" "00010007" "10" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(His99=)" "" "0000913666" "00010007" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "0000989695" "00010007" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0000989696" "00010007" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Asn321Ser)" "" "0001026052" "00010007" "50" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Arg56Leu)" "" "0001038626" "00010007" "50" "6204" "0" "6204" "0" "c.*4845G>A" "r.(=)" "p.(=)" "" "0001053796" "00010007" "50" "1086" "0" "1086" "0" "c.1086G>C" "r.(?)" "p.(Gln362His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000064841" "0000096479" "0000065282" "0000096954" "0000287625" "0000643424" "0000287626" "0000643425" "0000287627" "0000643426" "0000454794" "0000989695" "0000454795" "0000989696"