### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITK) # 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}}" "ITK" "IL2-inducible T-cell kinase" "5" "q31-q32" "unknown" "LRG_189" "UD_132118373231" "" "http://www.LOVD.nl/ITK" "" "1" "6171" "3702" "186973" "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/ITK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-08-31 16:16:22" "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}}" "00010217" "ITK" "IL2-inducible T-cell kinase" "001" "NM_005546.3" "" "NP_005537.3" "" "" "" "-82" "4284" "1863" "156607907" "156682109" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00160" "IMDI" "immunodeficiency, isolated (IMDI)" "" "300584" "" "" "" "00006" "2013-06-28 11:47:46" "00006" "2017-06-24 18:16:11" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03228" "LPFS1" "Lymphoproliferative syndrome, ebv-associated, autosomal, 1" "AR" "613011" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ITK" "03228" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00079883" "" "" "" "1" "" "01742" "{PMID:Huck 2009:19425169}" "" "F" "" "" "" "0" "" "" "" "" "00293803" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293804" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293805" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334513" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00433108" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Turkey" "8y" "0" "" "" "" "Pat85,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00079883" "00160" "00293803" "00198" "00293804" "00198" "00293805" "00198" "00334513" "05793" "00433108" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00160, 00198, 03228, 05292, 05793 ## Count = 3 "{{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}}" "0000059642" "00160" "00079883" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253216" "05793" "00334513" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000323634" "05292" "00433108" "00006" "Familial, autosomal recessive" "8y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079966" "00079883" "1" "01742" "01742" "2016-08-26 10:28:21" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000294971" "00293803" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294972" "00293804" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294973" "00293805" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335742" "00334513" "1" "04011" "04011" "2021-03-01 09:57:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000434539" "00433108" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000079966" "ITK" ## 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 = 37 "{{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}}" "0000128841" "0" "50" "5" "156668673" "156668673" "subst" "0" "01742" "ITK_000001" "g.156668673C>T" "" "{PMID:Huck 2009:19425169}" "" "" "" "Germline" "" "" "0" "" "" "g.157241663C>T" "" "VUS" "" "0000255093" "0" "30" "5" "156672796" "156672796" "subst" "0.000836902" "01943" "ITK_000009" "g.156672796A>T" "" "" "" "ITK(NM_005546.3):c.1510A>T (p.T504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157245786A>T" "" "likely benign" "" "0000283467" "0" "30" "5" "156671437" "156671437" "subst" "0.00878263" "02329" "ITK_000007" "g.156671437G>T" "" "" "" "ITK(NM_005546.4):c.1398G>T (p.V466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157244427G>T" "" "likely benign" "" "0000283468" "0" "10" "5" "156672719" "156672719" "subst" "0.0169508" "02329" "ITK_000008" "g.156672719G>A" "" "" "" "ITK(NM_005546.4):c.1450-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157245709G>A" "" "benign" "" "0000283469" "0" "50" "5" "156608056" "156608056" "subst" "0" "02329" "ITK_000002" "g.156608056C>G" "" "" "" "ITK(NM_005546.4):c.68C>G (p.P23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157181045C>G" "" "VUS" "" "0000283470" "0" "10" "5" "156665106" "156665106" "subst" "0.0172485" "02329" "ITK_000003" "g.156665106C>T" "" "" "" "ITK(NM_005546.3):c.769-13C>T, ITK(NM_005546.4):c.769-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157238096C>T" "" "benign" "" "0000283471" "0" "30" "5" "156667153" "156667153" "subst" "0" "02329" "ITK_000005" "g.156667153T>C" "" "" "" "ITK(NM_005546.4):c.933T>C (p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157240143T>C" "" "likely benign" "" "0000285399" "0" "30" "5" "156675985" "156675985" "subst" "0.00407222" "02326" "ITK_000010" "g.156675985G>A" "" "" "" "ITK(NM_005546.3):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157248975G>A" "" "likely benign" "" "0000285400" "0" "10" "5" "156665106" "156665106" "subst" "0.0172485" "02326" "ITK_000003" "g.156665106C>T" "" "" "" "ITK(NM_005546.3):c.769-13C>T, ITK(NM_005546.4):c.769-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157238096C>T" "" "benign" "" "0000289783" "0" "30" "5" "156671321" "156671321" "subst" "0.000183007" "01943" "ITK_000006" "g.156671321C>A" "" "" "" "ITK(NM_005546.3):c.1282C>A (p.Q428K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157244311C>A" "" "likely benign" "" "0000289784" "0" "30" "5" "156675985" "156675985" "subst" "0.00407222" "01943" "ITK_000010" "g.156675985G>A" "" "" "" "ITK(NM_005546.3):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157248975G>A" "" "likely benign" "" "0000289785" "0" "30" "5" "156665172" "156665172" "subst" "0.000211245" "01943" "ITK_000004" "g.156665172C>T" "" "" "" "ITK(NM_005546.3):c.822C>T (p.T274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157238162C>T" "" "likely benign" "" "0000525063" "0" "10" "5" "156638290" "156638290" "subst" "0.00164586" "01943" "ITK_000011" "g.156638290G>A" "" "" "" "ITK(NM_005546.3):c.244-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157211279G>A" "" "benign" "" "0000525064" "0" "10" "5" "156665109" "156665109" "subst" "0.0172495" "02326" "ITK_000012" "g.156665109A>T" "" "" "" "ITK(NM_005546.3):c.769-10A>T, ITK(NM_005546.4):c.769-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157238099A>T" "" "benign" "" "0000525065" "0" "10" "5" "156665109" "156665109" "subst" "0.0172495" "02329" "ITK_000012" "g.156665109A>T" "" "" "" "ITK(NM_005546.3):c.769-10A>T, ITK(NM_005546.4):c.769-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157238099A>T" "" "benign" "" "0000525066" "0" "30" "5" "156670753" "156670753" "subst" "2.43809E-5" "01943" "ITK_000013" "g.156670753G>A" "" "" "" "ITK(NM_005546.3):c.1181G>A (p.R394Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157243743G>A" "" "likely benign" "" "0000525067" "0" "30" "5" "156672741" "156672741" "subst" "0.000435441" "02326" "ITK_000014" "g.156672741C>T" "" "" "" "ITK(NM_005546.3):c.1455C>T (p.A485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157245731C>T" "" "likely benign" "" "0000609612" "0" "50" "5" "156671294" "156671294" "subst" "0" "02325" "ITK_000015" "g.156671294G>A" "" "" "" "ITK(NM_005546.4):c.1255G>A (p.V419M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157244284G>A" "" "VUS" "" "0000609613" "0" "30" "5" "156672741" "156672741" "subst" "0.000435441" "01943" "ITK_000014" "g.156672741C>T" "" "" "" "ITK(NM_005546.3):c.1455C>T (p.A485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157245731C>T" "" "likely benign" "" "0000609614" "0" "30" "5" "156672939" "156672939" "subst" "2.84414E-5" "01943" "ITK_000016" "g.156672939G>A" "" "" "" "ITK(NM_005546.3):c.1563G>A (p.P521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157245929G>A" "" "likely benign" "" "0000651660" "1" "30" "5" "156665106" "156665106" "subst" "0.0172485" "03575" "ITK_000003" "g.156665106C>T" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs56100638}" "Germline" "" "rs56100638" "0" "" "" "g.157238096C>T" "" "likely benign" "" "0000651661" "1" "50" "5" "156675967" "156675967" "subst" "0.000939506" "03575" "ITK_000017" "g.156675967C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs34482255}" "Germline" "" "rs34482255" "0" "" "" "g.157248957C>T" "" "VUS" "" "0000651662" "1" "50" "5" "156681049" "156681049" "subst" "0" "03575" "ITK_000018" "g.156681049G>A" "16/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs79627475}" "Germline" "" "rs79627475" "0" "" "" "g.157254039G>A" "" "VUS" "" "0000734549" "0" "70" "5" "156675967" "156675967" "subst" "0.000939506" "04011" "ITK_000017" "g.156675967C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000859858" "0" "30" "5" "156635998" "156635998" "subst" "0.000337423" "01943" "ITK_000019" "g.156635998G>A" "" "" "" "ITK(NM_005546.3):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859859" "0" "50" "5" "156668674" "156668674" "subst" "2.84502E-5" "01943" "ITK_000020" "g.156668674G>A" "" "" "" "ITK(NM_005546.3):c.1004G>A (p.R335Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912274" "0" "30" "5" "156672796" "156672796" "subst" "0.000836902" "02326" "ITK_000009" "g.156672796A>T" "" "" "" "ITK(NM_005546.3):c.1510A>T (p.T504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920293" "3" "50" "5" "156675953" "156675953" "subst" "1.22022E-5" "00006" "ITK_000021" "g.156675953G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "De novo" "" "" "0" "" "" "g.157248943G>A" "" "VUS" "ACMG" "0000924285" "0" "30" "5" "156649955" "156649955" "subst" "0.000926272" "02326" "ITK_000022" "g.156649955G>A" "" "" "" "ITK(NM_005546.3):c.578G>A (p.R193Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924286" "0" "30" "5" "156670753" "156670753" "subst" "2.43809E-5" "02326" "ITK_000013" "g.156670753G>A" "" "" "" "ITK(NM_005546.3):c.1181G>A (p.R394Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924287" "0" "30" "5" "156672972" "156672972" "subst" "2.84451E-5" "02326" "ITK_000023" "g.156672972C>T" "" "" "" "ITK(NM_005546.3):c.1596C>T (p.F532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924288" "0" "30" "5" "156675844" "156675844" "subst" "0.00340639" "02326" "ITK_000024" "g.156675844T>C" "" "" "" "ITK(NM_005546.3):c.1634-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929046" "0" "30" "5" "156635998" "156635998" "subst" "0.000337423" "02326" "ITK_000019" "g.156635998G>A" "" "" "" "ITK(NM_005546.3):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929047" "0" "30" "5" "156671359" "156671359" "subst" "2.03232E-5" "02326" "ITK_000025" "g.156671359C>T" "" "" "" "ITK(NM_005546.3):c.1320C>T (p.H440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963542" "0" "30" "5" "156668760" "156668760" "subst" "2.86095E-5" "02329" "ITK_000026" "g.156668760A>T" "" "" "" "ITK(NM_005546.4):c.1060+30A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035061" "0" "50" "5" "156671476" "156671476" "subst" "6.11362E-5" "01804" "ITK_000027" "g.156671476C>A" "" "" "" "ITK(NM_005546.4):c.1437C>A (p.(Ile479=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052184" "0" "50" "5" "156672780" "156672780" "subst" "4.06405E-6" "01804" "ITK_000028" "g.156672780G>A" "" "" "" "ITK(NM_005546.4):c.1494G>A (p.(Val498=))" "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 ITK ## Count = 37 "{{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}}" "0000128841" "00010217" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Trp)" "11" "0000255093" "00010217" "30" "1510" "0" "1510" "0" "c.1510A>T" "r.(?)" "p.(Thr504Ser)" "" "0000283467" "00010217" "30" "1398" "0" "1398" "0" "c.1398G>T" "r.(?)" "p.(Val466=)" "" "0000283468" "00010217" "10" "1450" "-17" "1450" "-17" "c.1450-17G>A" "r.(=)" "p.(=)" "" "0000283469" "00010217" "50" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Pro23Arg)" "" "0000283470" "00010217" "10" "769" "-13" "769" "-13" "c.769-13C>T" "r.(=)" "p.(=)" "" "0000283471" "00010217" "30" "933" "0" "933" "0" "c.933T>C" "r.(?)" "p.(Tyr311=)" "" "0000285399" "00010217" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "0000285400" "00010217" "10" "769" "-13" "769" "-13" "c.769-13C>T" "r.(=)" "p.(=)" "" "0000289783" "00010217" "30" "1282" "0" "1282" "0" "c.1282C>A" "r.(?)" "p.(Gln428Lys)" "" "0000289784" "00010217" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "0000289785" "00010217" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Thr274=)" "" "0000525063" "00010217" "10" "244" "-8" "244" "-8" "c.244-8G>A" "r.(=)" "p.(=)" "" "0000525064" "00010217" "10" "769" "-10" "769" "-10" "c.769-10A>T" "r.(=)" "p.(=)" "" "0000525065" "00010217" "10" "769" "-10" "769" "-10" "c.769-10A>T" "r.(=)" "p.(=)" "" "0000525066" "00010217" "30" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" "" "0000525067" "00010217" "30" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Ala485=)" "" "0000609612" "00010217" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Val419Met)" "" "0000609613" "00010217" "30" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Ala485=)" "" "0000609614" "00010217" "30" "1563" "0" "1563" "0" "c.1563G>A" "r.(?)" "p.(Pro521=)" "" "0000651660" "00010217" "30" "769" "-13" "769" "-13" "c.769-13C>T" "r.(=)" "p.(=)" "" "0000651661" "00010217" "50" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Trp)" "" "0000651662" "00010217" "50" "3224" "0" "3224" "0" "c.*1361G>A" "r.(=)" "p.(=)" "" "0000734549" "00010217" "50" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Trp)" "" "0000859858" "00010217" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" "" "0000859859" "00010217" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000912274" "00010217" "30" "1510" "0" "1510" "0" "c.1510A>T" "r.(?)" "p.(Thr504Ser)" "" "0000920293" "00010217" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576Gln)" "16" "0000924285" "00010217" "30" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Gln)" "" "0000924286" "00010217" "30" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" "" "0000924287" "00010217" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Phe532=)" "" "0000924288" "00010217" "30" "1634" "-16" "1634" "-16" "c.1634-16T>C" "r.(=)" "p.(=)" "" "0000929046" "00010217" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" "" "0000929047" "00010217" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(=)" "" "0000963542" "00010217" "30" "1060" "30" "1060" "30" "c.1060+30A>T" "r.(=)" "p.(=)" "" "0001035061" "00010217" "50" "1437" "0" "1437" "0" "c.1437C>A" "r.(?)" "p.(=)" "" "0001052184" "00010217" "50" "1494" "0" "1494" "0" "c.1494G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000079966" "0000128841" "0000294971" "0000651660" "0000294972" "0000651661" "0000294973" "0000651662" "0000335742" "0000734549" "0000434539" "0000920293"