### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRAK4) # 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}}" "IRAK4" "interleukin-1 receptor-associated kinase 4" "12" "q12" "unknown" "LRG_75" "UD_132085224111" "" "https://www.LOVD.nl/IRAK4" "" "1" "17967" "51135" "606883" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IRAK4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-10 20:37:54" "00000" "2024-08-28 13:16:32" ## 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}}" "00010129" "IRAK4" "transcript variant 1" "001" "NM_001114182.2" "" "NP_001107654.1" "" "" "" "-130" "4211" "1383" "44152747" "44183346" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02688" "IRAK4D" "IRAK4 deficiency" "AR" "607676" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06162" "IPD1" "Invasive pneumococcal disease, recurrent isolated, 1" "" "610799" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IRAK4" "02688" "IRAK4" "06162" ## 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}}" "00290698" "" "" "" "81" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304354" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331241" "" "" "" "1" "" "00006" "{PMID:Ku 2007:16950813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Hungary" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00290698" "00198" "00304354" "00198" "00331241" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02688, 06162 ## Count = 1 "{{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}}" "0000249433" "00198" "00331241" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "IMD67" "invasive pneumococcal disease" "" ## 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}}" "0000291866" "00290698" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305483" "00304354" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332460" "00331241" "1" "00006" "00006" "2021-02-10 19:47:39" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000332460" "IRAK4" ## 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 = 32 "{{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}}" "0000251507" "0" "10" "12" "44166703" "44166703" "subst" "0" "02326" "IRAK4_000003" "g.44166703A>T" "" "" "" "IRAK4(NM_001114182.2):c.491-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43772900A>T" "" "benign" "" "0000285343" "0" "10" "12" "44177511" "44177511" "subst" "0.0112492" "02326" "IRAK4_000004" "g.44177511G>A" "" "" "" "IRAK4(NM_016123.3):c.1172G>A (p.R391H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43783708G>A" "" "benign" "" "0000285344" "0" "10" "12" "44162031" "44162031" "subst" "0.000236551" "02326" "IRAK4_000001" "g.44162031T>A" "" "" "" "IRAK4(NM_016123.3):c.117T>A (p.I39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43768228T>A" "" "benign" "" "0000289724" "0" "30" "12" "44165993" "44165993" "subst" "0.00565239" "01943" "IRAK4_000002" "g.44165993C>G" "" "" "" "IRAK4(NM_001351345.1):c.318C>G (p.P106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43772190C>G" "" "likely benign" "" "0000341440" "0" "10" "12" "44180295" "44180295" "subst" "0.11332" "02327" "IRAK4_000008" "g.44180295G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43786492G>A" "" "benign" "" "0000341637" "0" "50" "12" "44165145" "44165145" "subst" "0" "02327" "IRAK4_000005" "g.44165145C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43771342C>T" "" "VUS" "" "0000344739" "0" "90" "12" "44172041" "44172041" "subst" "0.000235623" "02327" "IRAK4_000007" "g.44172041C>T" "" "" "" "IRAK4(NM_001351338.2):c.505C>T (p.Q169*), IRAK4(NM_016123.3):c.877C>T (p.Q293*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43778238C>T" "" "pathogenic" "" "0000548123" "0" "30" "12" "44165152" "44165152" "subst" "0.000816781" "01943" "IRAK4_000009" "g.44165152G>A" "" "" "" "IRAK4(NM_001114182.2):c.291G>A (p.A97=), IRAK4(NM_016123.3):c.291G>A (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43771349G>A" "" "likely benign" "" "0000548124" "0" "30" "12" "44166782" "44166782" "subst" "2.03232E-5" "01943" "IRAK4_000010" "g.44166782T>A" "" "" "" "IRAK4(NM_001114182.2):c.558T>A (p.S186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43772979T>A" "" "likely benign" "" "0000548125" "0" "30" "12" "44171436" "44171436" "subst" "0.000344652" "01943" "IRAK4_000011" "g.44171436T>C" "" "" "" "IRAK4(NM_001351338.1):c.348T>C (p.C116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43777633T>C" "" "likely benign" "" "0000548126" "0" "90" "12" "44172041" "44172041" "subst" "0.000235623" "02326" "IRAK4_000007" "g.44172041C>T" "" "" "" "IRAK4(NM_001351338.2):c.505C>T (p.Q169*), IRAK4(NM_016123.3):c.877C>T (p.Q293*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43778238C>T" "" "pathogenic" "" "0000548127" "0" "30" "12" "44176133" "44176133" "subst" "8.12552E-6" "01943" "IRAK4_000012" "g.44176133C>G" "" "" "" "IRAK4(NM_001114182.2):c.965C>G (p.A322G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43782330C>G" "" "likely benign" "" "0000648555" "1" "10" "12" "44177511" "44177511" "subst" "0.0112492" "03575" "IRAK4_000004" "g.44177511G>A" "81/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "81 heterozygous; {DB:CLININrs55944915}" "Germline" "" "rs55944915" "0" "" "" "g.43783708G>A" "" "benign" "" "0000669171" "3" "10" "12" "44177511" "44177511" "subst" "0.0112492" "03575" "IRAK4_000004" "g.44177511G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs55944915}" "Germline" "" "rs55944915" "0" "" "" "g.43783708G>A" "" "benign" "" "0000679524" "0" "30" "12" "44166149" "44166149" "subst" "4.09031E-6" "02326" "IRAK4_000013" "g.44166149A>G" "" "" "" "IRAK4(NM_016123.3):c.474A>G (p.L158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679525" "0" "30" "12" "44167807" "44167807" "subst" "4.49167E-5" "01943" "IRAK4_000014" "g.44167807G>A" "" "" "" "IRAK4(NM_001351338.1):c.319G>A (p.D107N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724028" "0" "70" "12" "44161993" "44161993" "subst" "0" "02327" "IRAK4_000017" "g.44161993G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724029" "0" "30" "12" "44166106" "44166106" "subst" "0" "01943" "IRAK4_000018" "g.44166106G>C" "" "" "" "IRAK4(NM_001351338.1):c.59G>C (p.S20T), IRAK4(NM_016123.3):c.431G>C (p.(Ser144Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729714" "11" "90" "12" "44180201" "44180201" "subst" "0" "00006" "IRAK4_000015" "g.44180201G>T" "" "{PMID:Ku 2007:16950813}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000729715" "21" "90" "12" "44178047" "44178047" "subst" "0" "00006" "IRAK4_000016" "g.44178047A>G" "" "{PMID:Ku 2007:16950813}" "" "" "effect on RNA estimated from data provided" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000805711" "0" "50" "12" "44176243" "44176243" "subst" "8.12301E-6" "01943" "IRAK4_000019" "g.44176243G>T" "" "" "" "IRAK4(NM_001351338.1):c.703G>T (p.A235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853398" "0" "50" "12" "44177510" "44177510" "subst" "0.000216408" "01943" "IRAK4_000020" "g.44177510C>T" "" "" "" "IRAK4(NM_001351338.1):c.799C>T (p.R267C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890558" "0" "30" "12" "44165152" "44165152" "subst" "0.000816781" "02326" "IRAK4_000009" "g.44165152G>A" "" "" "" "IRAK4(NM_001114182.2):c.291G>A (p.A97=), IRAK4(NM_016123.3):c.291G>A (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890559" "0" "30" "12" "44166890" "44166890" "subst" "0.000348512" "02326" "IRAK4_000021" "g.44166890C>T" "" "" "" "IRAK4(NM_016123.3):c.651+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890560" "0" "90" "12" "44172041" "44172041" "subst" "0.000235623" "02329" "IRAK4_000007" "g.44172041C>T" "" "" "" "IRAK4(NM_001351338.2):c.505C>T (p.Q169*), IRAK4(NM_016123.3):c.877C>T (p.Q293*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925629" "0" "30" "12" "44152835" "44152835" "subst" "0" "02326" "IRAK4_000022" "g.44152835C>T" "" "" "" "IRAK4(NM_016123.3):c.-10+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930088" "0" "30" "12" "44165051" "44165051" "subst" "4.06491E-6" "02326" "IRAK4_000023" "g.44165051A>G" "" "" "" "IRAK4(NM_016123.3):c.190A>G (p.K64E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930089" "0" "30" "12" "44166154" "44166154" "subst" "9.01565E-5" "02326" "IRAK4_000024" "g.44166154T>A" "" "" "" "IRAK4(NM_016123.3):c.479T>A (p.V160D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930090" "0" "30" "12" "44167786" "44167786" "subst" "8.56262E-5" "02326" "IRAK4_000025" "g.44167786G>A" "" "" "" "IRAK4(NM_016123.3):c.670G>A (p.E224K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966908" "0" "50" "12" "44165165" "44165165" "subst" "0" "02327" "IRAK4_000026" "g.44165165C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980251" "0" "50" "12" "44148715" "44148715" "subst" "0.000121981" "01804" "IRAK4_000027" "g.44148715C>A" "" "" "" "PUS7L(NM_031292.5):c.334G>T (p.(Val112Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000002" "0" "30" "12" "44166106" "44166106" "subst" "0" "01804" "IRAK4_000018" "g.44166106G>C" "" "" "" "IRAK4(NM_001351338.1):c.59G>C (p.S20T), IRAK4(NM_016123.3):c.431G>C (p.(Ser144Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 IRAK4 ## Count = 32 "{{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}}" "0000251507" "00010129" "10" "491" "-12" "491" "-12" "c.491-12A>T" "r.(=)" "p.(=)" "" "0000285343" "00010129" "10" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "0000285344" "00010129" "10" "117" "0" "117" "0" "c.117T>A" "r.(?)" "p.(Ile39=)" "" "0000289724" "00010129" "30" "318" "0" "318" "0" "c.318C>G" "r.(?)" "p.(Pro106=)" "" "0000341440" "00010129" "10" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0000341637" "00010129" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Ala95Val)" "" "0000344739" "00010129" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Gln293Ter)" "" "0000548123" "00010129" "30" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Ala97=)" "" "0000548124" "00010129" "30" "558" "0" "558" "0" "c.558T>A" "r.(?)" "p.(Ser186=)" "" "0000548125" "00010129" "30" "720" "0" "720" "0" "c.720T>C" "r.(?)" "p.(Cys240=)" "" "0000548126" "00010129" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Gln293Ter)" "" "0000548127" "00010129" "30" "965" "0" "965" "0" "c.965C>G" "r.(?)" "p.(Ala322Gly)" "" "0000648555" "00010129" "10" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "0000669171" "00010129" "10" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "0000679524" "00010129" "30" "474" "0" "474" "0" "c.474A>G" "r.(?)" "p.(Leu158=)" "" "0000679525" "00010129" "30" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asp231Asn)" "" "0000724028" "00010129" "70" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.(Asp27Tyr)" "" "0000724029" "00010129" "30" "431" "0" "431" "0" "c.431G>C" "r.(?)" "p.(Ser144Thr)" "" "0000729714" "00010129" "90" "1189" "-1" "1189" "-1" "c.1189-1G>T" "r.spl" "p.?" "" "0000729715" "00010129" "90" "1188" "520" "1188" "520" "c.1188+520A>G" "r.1188_1189ins1188+521_1188+728" "p.?" "" "0000805711" "00010129" "50" "1075" "0" "1075" "0" "c.1075G>T" "r.(?)" "p.(Ala359Ser)" "" "0000853398" "00010129" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000890558" "00010129" "30" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Ala97=)" "" "0000890559" "00010129" "30" "651" "15" "651" "15" "c.651+15C>T" "r.(=)" "p.(=)" "" "0000890560" "00010129" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Gln293Ter)" "" "0000925629" "00010129" "30" "-58" "16" "-58" "16" "c.-58+16C>T" "r.(=)" "p.(=)" "" "0000930088" "00010129" "30" "190" "0" "190" "0" "c.190A>G" "r.(?)" "p.(Lys64Glu)" "" "0000930089" "00010129" "30" "479" "0" "479" "0" "c.479T>A" "r.(?)" "p.(Val160Asp)" "" "0000930090" "00010129" "30" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Glu224Lys)" "" "0000966908" "00010129" "50" "304" "0" "304" "0" "c.304C>G" "r.(?)" "p.(Pro102Ala)" "" "0000980251" "00010129" "50" "-4162" "0" "-4162" "0" "c.-4162C>A" "r.(?)" "p.(=)" "" "0001000002" "00010129" "30" "431" "0" "431" "0" "c.431G>C" "r.(?)" "p.(Ser144Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000291866" "0000648555" "0000305483" "0000669171" "0000332460" "0000729714" "0000332460" "0000729715"