### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IKBKB) # 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}}" "IKBKB" "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta" "8" "p11.2" "unknown" "NG_041793.1" "UD_132463787043" "" "http://www.LOVD.nl/IKBKB" "" "1" "5960" "3551" "603258" "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/IKBKB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-23 16:04:13" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024120" "IKBKB" "transcript variant 1" "002" "NM_001556.2" "" "NP_001547.1" "" "" "" "-186" "3945" "2271" "42128820" "42190171" "00006" "2016-04-23 16:00:43" "" "" ## 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}}" "02465" "MFM9" "myopathy, myofibrillar, 9, with early respiratory failure" "AD" "603689" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04019" "IMD15B" "immunodeficiency, type 15B" "AR" "615592" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "06795" "IMD15A" "Immunodeficiency 15A" "AD" "618204" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IKBKB" "04019" "IKBKB" "06795" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00058423" "" "" "" "20" "" "00515" "{PMID:Izumi 2013:23446887}" "7-generation family, 20 affecteds (7F, 13M)" "-" "no" "Japan" "" "0" "" "" "" "" "00334869" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335038" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00058423" "02465" "00334869" "05793" "00335038" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02465, 04019, 05793, 06795 ## Count = 3 "{{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}}" "0000045054" "02465" "00058423" "00515" "Familial, autosomal dominant" "" "myofibrillar myopathy/Hereditary myopathy with early respiratory failure" "" "" "" "" "" "" "" "" "" "0000253264" "05793" "00334869" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253320" "05793" "00335038" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058386" "00058423" "1" "00515" "00006" "2014-02-25 17:42:10" "00006" "2016-04-23 15:53:29" "SEQ;SEQ-NG" "DNA" "" "" "0000336098" "00334869" "1" "04011" "04011" "2021-03-02 09:21:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336267" "00335038" "1" "04011" "04011" "2021-03-03 06:18:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000058386" "IKBKB" "0000058386" "TTN" ## 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 = 52 "{{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}}" "0000095176" "1" "10" "8" "42188457" "42188457" "subst" "0.000113701" "00006" "IKBKB_000001" "g.42188457C>T" "" "{PMID:Izumi 2013:23446887}" "" "C>T T742M" "" "Germline" "no" "rs138183879" "0" "" "" "g.42330939C>T" "" "benign" "" "0000255252" "0" "30" "8" "42129597" "42129597" "subst" "0.000823123" "01943" "IKBKB_000002" "g.42129597A>G" "" "" "" "IKBKB(NM_001242778.1):c.-100-4A>G (p.(=)), IKBKB(NM_001556.3):c.-18-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42272079A>G" "" "likely benign" "" "0000289547" "0" "50" "8" "42176802" "42176802" "subst" "0" "01943" "IKBKB_000006" "g.42176802G>A" "" "" "" "IKBKB(NM_001556.3):c.1379G>A (p.R460Q, p.(Arg460Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42319284G>A" "" "VUS" "" "0000289548" "0" "50" "8" "42146240" "42146240" "subst" "0" "01943" "IKBKB_000003" "g.42146240T>C" "" "" "" "IKBKB(NM_001556.3):c.194T>C (p.M65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42288722T>C" "" "VUS" "" "0000289549" "0" "30" "8" "42166541" "42166541" "subst" "2.85481E-5" "01943" "IKBKB_000004" "g.42166541G>A" "" "" "" "IKBKB(NM_001556.3):c.690G>A (p.Q230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42309023G>A" "" "likely benign" "" "0000289550" "0" "30" "8" "42171885" "42171885" "subst" "0.00041824" "01943" "IKBKB_000005" "g.42171885C>T" "" "" "" "IKBKB(NM_001556.3):c.738C>T (p.S246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42314367C>T" "" "likely benign" "" "0000534820" "0" "30" "8" "42128899" "42128899" "subst" "0.00129509" "01804" "IKBKB_000007" "g.42128899G>C" "" "" "" "IKBKB(NM_001190720.2):c.11G>C (p.(Gly4Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42271381G>C" "" "likely benign" "" "0000534821" "0" "30" "8" "42129597" "42129597" "subst" "0.000823123" "02326" "IKBKB_000002" "g.42129597A>G" "" "" "" "IKBKB(NM_001242778.1):c.-100-4A>G (p.(=)), IKBKB(NM_001556.3):c.-18-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42272079A>G" "" "likely benign" "" "0000534822" "0" "30" "8" "42166555" "42166555" "dup" "0" "02326" "IKBKB_000008" "g.42166555dup" "" "" "" "IKBKB(NM_001556.3):c.692+12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42309037dup" "" "likely benign" "" "0000534823" "0" "30" "8" "42176188" "42176188" "subst" "1.66646E-5" "01943" "IKBKB_000009" "g.42176188C>T" "" "" "" "IKBKB(NM_001556.3):c.1359C>T (p.A453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42318670C>T" "" "likely benign" "" "0000534824" "0" "30" "8" "42177146" "42177146" "subst" "8.78449E-6" "01943" "IKBKB_000010" "g.42177146T>C" "" "" "" "IKBKB(NM_001556.3):c.1560T>C (p.A520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42319628T>C" "" "likely benign" "" "0000534825" "0" "30" "8" "42178351" "42178351" "subst" "0.000736509" "02326" "IKBKB_000011" "g.42178351G>T" "" "" "" "IKBKB(NM_001242778.1):c.1500G>T (p.T500=), IKBKB(NM_001556.3):c.1677G>T (p.T559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42320833G>T" "" "likely benign" "" "0000534826" "0" "30" "8" "42179427" "42179427" "subst" "0.0017146" "01943" "IKBKB_000012" "g.42179427A>C" "" "" "" "IKBKB(NM_001556.3):c.1702A>C (p.R568=, p.(Arg568=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42321909A>C" "" "likely benign" "" "0000534827" "0" "30" "8" "42179427" "42179427" "subst" "0.0017146" "02326" "IKBKB_000012" "g.42179427A>C" "" "" "" "IKBKB(NM_001556.3):c.1702A>C (p.R568=, p.(Arg568=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42321909A>C" "" "likely benign" "" "0000534829" "0" "10" "8" "42183529" "42183529" "subst" "0.00147829" "01943" "IKBKB_000014" "g.42183529G>A" "" "" "" "IKBKB(NM_001190720.2):c.2022G>A (p.(Met674Ile)), IKBKB(NM_001556.3):c.2028G>A (p.M676I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42326011G>A" "" "benign" "" "0000534830" "0" "30" "8" "42186655" "42186655" "subst" "0.000425898" "02326" "IKBKB_000015" "g.42186655G>A" "" "" "" "IKBKB(NM_001556.3):c.2128G>A (p.A710T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42329137G>A" "" "likely benign" "" "0000611617" "0" "90" "8" "42166458" "42166458" "subst" "0" "02327" "IKBKB_000016" "g.42166458G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42308940G>A" "" "pathogenic" "" "0000656099" "0" "30" "8" "42174416" "42174416" "subst" "0.000920548" "02326" "IKBKB_000017" "g.42174416C>T" "" "" "" "IKBKB(NM_001556.3):c.1119C>T (p.D373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42316898C>T" "" "likely benign" "" "0000656100" "0" "30" "8" "42183580" "42183580" "subst" "2.43659E-5" "02326" "IKBKB_000018" "g.42183580G>A" "" "" "" "IKBKB(NM_001556.3):c.2079G>A (p.T693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42326062G>A" "" "likely benign" "" "0000690268" "0" "30" "8" "42183584" "42183584" "subst" "0" "01804" "IKBKB_000019" "g.42183584T>A" "" "" "" "IKBKB(NM_001190720.2):c.2077T>A (p.(Ser693Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690269" "0" "30" "8" "42188489" "42188489" "subst" "0.000255917" "01943" "IKBKB_000020" "g.42188489G>T" "" "" "" "IKBKB(NM_001242778.1):c.2086G>T (p.A696S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721989" "0" "30" "8" "42174269" "42174269" "subst" "6.09598E-5" "01943" "IKBKB_000021" "g.42174269C>T" "" "" "" "IKBKB(NM_001242778.1):c.795C>T (p.T265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721990" "0" "30" "8" "42174320" "42174320" "subst" "8.12387E-6" "01804" "IKBKB_000022" "g.42174320A>T" "" "" "" "IKBKB(NM_001190720.2):c.1017A>T (p.(Gln339His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721991" "0" "30" "8" "42177163" "42177163" "subst" "0.0085287" "01804" "IKBKB_000023" "g.42177163G>A" "" "" "" "IKBKB(NM_001190720.2):c.1571G>A (p.(Arg524Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721992" "0" "50" "8" "42178334" "42178334" "subst" "2.55443E-5" "01943" "IKBKB_000024" "g.42178334C>T" "" "" "" "IKBKB(NM_001242778.1):c.1483C>T (p.R495W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735117" "0" "70" "8" "42147720" "42147720" "subst" "0.000163157" "04011" "IKBKB_000025" "g.42147720A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735519" "0" "70" "8" "42175197" "42175197" "subst" "0" "04011" "IKBKB_000026" "g.42175197A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000803649" "0" "90" "8" "42147792" "42147792" "subst" "0" "01943" "IKBKB_000027" "g.42147792G>C" "" "" "" "IKBKB(NM_001242778.1):c.141+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803650" "0" "30" "8" "42173806" "42173806" "subst" "0.000207135" "01943" "IKBKB_000028" "g.42173806G>A" "" "" "" "IKBKB(NM_001242778.1):c.702G>A (p.T234=), IKBKB(NM_001556.3):c.879G>A (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803651" "0" "30" "8" "42176927" "42176927" "subst" "0.000739152" "01804" "IKBKB_000029" "g.42176927G>A" "" "" "" "IKBKB(NM_001190720.2):c.1498G>A (p.(Glu500Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803652" "0" "30" "8" "42178351" "42178351" "subst" "0.000736509" "01943" "IKBKB_000011" "g.42178351G>T" "" "" "" "IKBKB(NM_001242778.1):c.1500G>T (p.T500=), IKBKB(NM_001556.3):c.1677G>T (p.T559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803653" "0" "30" "8" "42188432" "42188432" "subst" "0.000361413" "01943" "IKBKB_000030" "g.42188432G>A" "" "" "" "IKBKB(NM_001242778.1):c.2029G>A (p.A677T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851926" "0" "50" "8" "42151006" "42151006" "subst" "0" "02325" "IKBKB_000033" "g.42151006A>T" "" "" "" "IKBKB(NM_001556.3):c.364A>T (p.I122F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861216" "0" "50" "8" "42128967" "42128967" "subst" "0" "01943" "IKBKB_000031" "g.42128967G>A" "" "" "" "IKBKB(NM_001190720.2):c.79G>A (p.A27T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861217" "0" "50" "8" "42128968" "42128968" "subst" "0" "01943" "IKBKB_000032" "g.42128968C>A" "" "" "" "IKBKB(NM_001190720.2):c.80C>A (p.A27D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861218" "0" "50" "8" "42173742" "42173742" "subst" "2.43984E-5" "01943" "IKBKB_000034" "g.42173742G>A" "" "" "" "IKBKB(NM_001242778.1):c.638G>A (p.R213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861219" "0" "30" "8" "42183529" "42183529" "subst" "0.00147829" "01804" "IKBKB_000014" "g.42183529G>A" "" "" "" "IKBKB(NM_001190720.2):c.2022G>A (p.(Met674Ile)), IKBKB(NM_001556.3):c.2028G>A (p.M676I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888356" "0" "30" "8" "42129597" "42129597" "subst" "0.000823123" "01804" "IKBKB_000002" "g.42129597A>G" "" "" "" "IKBKB(NM_001242778.1):c.-100-4A>G (p.(=)), IKBKB(NM_001556.3):c.-18-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888357" "0" "50" "8" "42129665" "42129665" "subst" "0" "02325" "IKBKB_000035" "g.42129665A>C" "" "" "" "IKBKB(NM_001556.3):c.47A>C (p.E16A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888358" "0" "30" "8" "42166550" "42166550" "subst" "1.64077E-5" "02326" "IKBKB_000036" "g.42166550G>A" "" "" "" "IKBKB(NM_001556.3):c.692+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888359" "0" "30" "8" "42173806" "42173806" "subst" "0.000207135" "02326" "IKBKB_000028" "g.42173806G>A" "" "" "" "IKBKB(NM_001242778.1):c.702G>A (p.T234=), IKBKB(NM_001556.3):c.879G>A (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888360" "0" "30" "8" "42178258" "42178258" "subst" "8.55432E-5" "02326" "IKBKB_000037" "g.42178258C>T" "" "" "" "IKBKB(NM_001556.3):c.1584C>T (p.N528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912954" "0" "30" "8" "42147797" "42147797" "subst" "6.59952E-5" "02326" "IKBKB_000038" "g.42147797G>T" "" "" "" "IKBKB(NM_001556.3):c.318+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912955" "0" "50" "8" "42171916" "42171916" "subst" "8.1213E-6" "02325" "IKBKB_000039" "g.42171916A>G" "" "" "" "IKBKB(NM_001556.3):c.769A>G (p.S257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929448" "0" "30" "8" "42174380" "42174380" "subst" "0.00932455" "01804" "IKBKB_000040" "g.42174380G>A" "" "" "" "IKBKB(NM_001190720.2):c.1077G>A (p.(Leu359=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949078" "0" "30" "8" "42128942" "42128942" "subst" "0.0385933" "01804" "IKBKB_000041" "g.42128942C>T" "" "" "" "IKBKB(NM_001190720.2):c.54C>T (p.(Phe18=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949079" "0" "30" "8" "42151050" "42151050" "subst" "0.00313503" "01804" "IKBKB_000042" "g.42151050T>G" "" "" "" "IKBKB(NM_001190720.2):c.382+20T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964999" "0" "50" "8" "42151058" "42151058" "subst" "6.90479E-5" "01804" "IKBKB_000043" "g.42151058G>A" "" "" "" "IKBKB(NM_001190720.2):c.382+28G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978216" "0" "30" "8" "42179427" "42179427" "subst" "0.0017146" "01804" "IKBKB_000012" "g.42179427A>C" "" "" "" "IKBKB(NM_001556.3):c.1702A>C (p.R568=, p.(Arg568=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997193" "0" "50" "8" "42178343" "42178343" "subst" "0" "01804" "IKBKB_000044" "g.42178343G>T" "" "" "" "IKBKB(NM_001556.2):c.1669G>T (p.(Gly557Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997194" "0" "30" "8" "42188478" "42188478" "subst" "4.06138E-6" "01804" "IKBKB_000045" "g.42188478G>C" "" "" "" "IKBKB(NM_001556.2):c.2252G>C (p.(Cys751Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036973" "0" "50" "8" "42176802" "42176802" "subst" "0" "01804" "IKBKB_000006" "g.42176802G>A" "" "" "" "IKBKB(NM_001556.3):c.1379G>A (p.R460Q, p.(Arg460Gln))" "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 IKBKB ## Count = 52 "{{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}}" "0000095176" "00024120" "10" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Met)" "22" "0000255252" "00024120" "30" "-18" "-4" "-18" "-4" "c.-18-4A>G" "r.spl?" "p.?" "" "0000289547" "00024120" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Arg460Gln)" "" "0000289548" "00024120" "50" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Met65Thr)" "" "0000289549" "00024120" "30" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Gln230=)" "" "0000289550" "00024120" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Ser246=)" "" "0000534820" "00024120" "30" "-107" "0" "-107" "0" "c.-107G>C" "r.(?)" "p.(=)" "" "0000534821" "00024120" "30" "-18" "-4" "-18" "-4" "c.-18-4A>G" "r.spl?" "p.?" "" "0000534822" "00024120" "30" "692" "12" "692" "12" "c.692+12dup" "r.(=)" "p.(=)" "" "0000534823" "00024120" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ala453=)" "" "0000534824" "00024120" "30" "1560" "0" "1560" "0" "c.1560T>C" "r.(?)" "p.(Ala520=)" "" "0000534825" "00024120" "30" "1677" "0" "1677" "0" "c.1677G>T" "r.(?)" "p.(Thr559=)" "" "0000534826" "00024120" "30" "1702" "0" "1702" "0" "c.1702A>C" "r.(?)" "p.(Arg568=)" "" "0000534827" "00024120" "30" "1702" "0" "1702" "0" "c.1702A>C" "r.(?)" "p.(Arg568=)" "" "0000534829" "00024120" "10" "2028" "0" "2028" "0" "c.2028G>A" "r.(?)" "p.(Met676Ile)" "" "0000534830" "00024120" "30" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Ala710Thr)" "" "0000611617" "00024120" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Ile)" "" "0000656099" "00024120" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Asp373=)" "" "0000656100" "00024120" "30" "2079" "0" "2079" "0" "c.2079G>A" "r.(?)" "p.(Thr693=)" "" "0000690268" "00024120" "30" "2083" "0" "2083" "0" "c.2083T>A" "r.(?)" "p.(Ser695Thr)" "" "0000690269" "00024120" "30" "2263" "0" "2263" "0" "c.2263G>T" "r.(?)" "p.(Ala755Ser)" "" "0000721989" "00024120" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Thr324=)" "" "0000721990" "00024120" "30" "1023" "0" "1023" "0" "c.1023A>T" "r.(?)" "p.(Gln341His)" "" "0000721991" "00024120" "30" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000721992" "00024120" "50" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Arg554Trp)" "" "0000735117" "00024120" "50" "247" "0" "247" "0" "c.247A>G" "r.(?)" "p.(Met83Val)" "" "0000735519" "00024120" "50" "1148" "0" "1148" "0" "c.1148A>T" "r.(?)" "p.(Asp383Val)" "" "0000803649" "00024120" "90" "318" "1" "318" "1" "c.318+1G>C" "r.spl?" "p.?" "" "0000803650" "00024120" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Thr293=)" "" "0000803651" "00024120" "30" "1504" "0" "1504" "0" "c.1504G>A" "r.(?)" "p.(Glu502Lys)" "" "0000803652" "00024120" "30" "1677" "0" "1677" "0" "c.1677G>T" "r.(?)" "p.(Thr559=)" "" "0000803653" "00024120" "30" "2206" "0" "2206" "0" "c.2206G>A" "r.(?)" "p.(Ala736Thr)" "" "0000851926" "00024120" "50" "364" "0" "364" "0" "c.364A>T" "r.(?)" "p.(Ile122Phe)" "" "0000861216" "00024120" "50" "-39" "0" "-39" "0" "c.-39G>A" "r.(?)" "p.(=)" "" "0000861217" "00024120" "50" "-38" "0" "-38" "0" "c.-38C>A" "r.(?)" "p.(=)" "" "0000861218" "00024120" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000861219" "00024120" "30" "2028" "0" "2028" "0" "c.2028G>A" "r.(?)" "p.(Met676Ile)" "" "0000888356" "00024120" "30" "-18" "-4" "-18" "-4" "c.-18-4A>G" "r.spl?" "p.?" "" "0000888357" "00024120" "50" "47" "0" "47" "0" "c.47A>C" "r.(?)" "p.(Glu16Ala)" "" "0000888358" "00024120" "30" "692" "7" "692" "7" "c.692+7G>A" "r.(=)" "p.(=)" "" "0000888359" "00024120" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Thr293=)" "" "0000888360" "00024120" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Asn528=)" "" "0000912954" "00024120" "30" "318" "6" "318" "6" "c.318+6G>T" "r.(=)" "p.(=)" "" "0000912955" "00024120" "50" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Ser257Gly)" "" "0000929448" "00024120" "30" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(=)" "" "0000949078" "00024120" "30" "-64" "0" "-64" "0" "c.-64C>T" "r.(?)" "p.(=)" "" "0000949079" "00024120" "30" "388" "20" "388" "20" "c.388+20T>G" "r.(=)" "p.(=)" "" "0000964999" "00024120" "50" "388" "28" "388" "28" "c.388+28G>A" "r.(=)" "p.(=)" "" "0000978216" "00024120" "30" "1702" "0" "1702" "0" "c.1702A>C" "r.(?)" "p.(Arg568=)" "" "0000997193" "00024120" "50" "1669" "0" "1669" "0" "c.1669G>T" "r.(?)" "p.(Gly557Trp)" "" "0000997194" "00024120" "30" "2252" "0" "2252" "0" "c.2252G>C" "r.(?)" "p.(Cys751Ser)" "" "0001036973" "00024120" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Arg460Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000058386" "0000095176" "0000336098" "0000735117" "0000336267" "0000735519"