### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR1I3) # 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}}" "NR1I3" "nuclear receptor subfamily 1, group I, member 3" "1" "q23.3" "unknown" "NC_000001.10" "UD_132085418326" "" "https://www.LOVD.nl/NR1I3" "" "1" "7969" "9970" "603881" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-08-14 10:33:16" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014777" "NR1I3" "transcript variant 6" "012" "NM_001077469.2" "" "NP_001070937.1" "" "" "" "-203" "1039" "1023" "161208000" "161199456" "" "0000-00-00 00:00:00" "" "" "00025938" "NR1I3" "transcript variant 3" "017" "NM_005122.4" "" "NP_005113.1" "" "" "RefSeq select" "-203" "1178" "1047" "161208000" "161199456" "00006" "2024-08-14 10:32:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00453018" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2012:22726846}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "KS220" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00453018" "00668" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00668 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000341662" "00668" "00453018" "00006" "Isolated (sporadic)" "" "intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; no brachycephaly; midface hypoplasia; no coarse facies; hypertelorism; no synophrys; no arched eyebrows; short nose; anteverted nostrils; macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures" "" "" "" "" "" "" "" "" "" "" "Kleefstra syndrome phenotypic spectrum" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000454629" "00453018" "1" "00006" "00006" "2024-08-14 10:39:18" "" "" "SEQ-NG;SEQ" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 27 "{{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}}" "0000503994" "0" "30" "1" "161192883" "161192884" "dup" "0" "02326" "APOA2_000008" "g.161192883_161192884dup" "" "" "" "APOA2(NM_001643.1):c.53-7_53-6dupTG, APOA2(NM_001643.2):c.53-7_53-6dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161223093_161223094dup" "" "likely benign" "" "0000503995" "0" "10" "1" "161192883" "161192884" "dup" "0" "01943" "APOA2_000008" "g.161192883_161192884dup" "" "" "" "APOA2(NM_001643.1):c.53-7_53-6dupTG, APOA2(NM_001643.2):c.53-7_53-6dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161223093_161223094dup" "" "benign" "" "0000604950" "0" "10" "1" "161192875" "161192884" "del" "0" "02326" "APOA2_000009" "g.161192875_161192884del" "" "" "" "APOA2(NM_001643.1):c.53-15_53-6delTGTGTGTGTG, APOA2(NM_001643.2):c.53-15_53-6delTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161223085_161223094del" "" "benign" "" "0000604951" "0" "10" "1" "161192879" "161192884" "del" "0" "02326" "APOA2_000010" "g.161192879_161192884del" "" "" "" "APOA2(NM_001643.2):c.53-11_53-6delTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161223089_161223094del" "" "benign" "" "0000620421" "0" "30" "1" "161192883" "161192884" "dup" "0" "02325" "APOA2_000008" "g.161192883_161192884dup" "" "" "" "APOA2(NM_001643.1):c.53-7_53-6dupTG, APOA2(NM_001643.2):c.53-7_53-6dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161223093_161223094dup" "" "likely benign" "" "0000687923" "0" "30" "1" "161192331" "161192331" "subst" "0.00132223" "02326" "APOA2_000011" "g.161192331T>G" "" "" "" "APOA2(NM_001643.2):c.186-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687924" "0" "30" "1" "161192875" "161192884" "del" "0" "01943" "APOA2_000009" "g.161192875_161192884del" "" "" "" "APOA2(NM_001643.1):c.53-15_53-6delTGTGTGTGTG, APOA2(NM_001643.2):c.53-15_53-6delTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687925" "0" "30" "1" "161192883" "161192884" "del" "0" "02326" "APOA2_000012" "g.161192883_161192884del" "" "" "" "APOA2(NM_001643.2):c.53-7_53-6delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716947" "0" "30" "1" "161192881" "161192884" "dup" "0" "01943" "APOA2_000013" "g.161192881_161192884dup" "" "" "" "APOA2(NM_001643.1):c.53-9_53-6dupTGTG, APOA2(NM_001643.2):c.53-9_53-6dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848360" "0" "30" "1" "161192881" "161192884" "dup" "0" "02325" "APOA2_000013" "g.161192881_161192884dup" "" "" "" "APOA2(NM_001643.1):c.53-9_53-6dupTGTG, APOA2(NM_001643.2):c.53-9_53-6dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857108" "0" "10" "1" "161192511" "161192511" "subst" "0" "01943" "APOA2_000014" "g.161192511C>G" "" "" "" "APOA2(NM_001643.1):c.185+197G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857109" "0" "30" "1" "161192881" "161192884" "del" "0" "02326" "APOA2_000015" "g.161192881_161192884del" "" "" "" "APOA2(NM_001643.2):c.53-9_53-6delTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882879" "0" "50" "1" "161192256" "161192256" "subst" "8.12275E-6" "02325" "APOA2_000016" "g.161192256G>A" "" "" "" "APOA2(NM_001643.2):c.242C>T (p.T81M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910828" "0" "50" "1" "161192802" "161192802" "subst" "0" "02325" "APOA2_000017" "g.161192802C>T" "" "" "" "APOA2(NM_001643.2):c.91G>A (p.E31K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910829" "0" "30" "1" "161192877" "161192884" "dup" "0" "02325" "APOA2_000018" "g.161192877_161192884dup" "" "" "" "APOA2(NM_001643.2):c.53-13_53-6dupTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922992" "0" "10" "1" "161192877" "161192884" "del" "0" "02326" "APOA2_000019" "g.161192877_161192884del" "" "" "" "APOA2(NM_001643.2):c.53-13_53-6delTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960595" "0" "30" "1" "161192881" "161192884" "dup" "0" "02326" "APOA2_000013" "g.161192881_161192884dup" "" "" "" "APOA2(NM_001643.1):c.53-9_53-6dupTGTG, APOA2(NM_001643.2):c.53-9_53-6dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960597" "0" "10" "1" "161193683" "161193683" "subst" "0" "02326" "APOA2_000020" "g.161193683G>A" "" "" "" "APOA2(NM_001643.2):c.-323C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973427" "0" "50" "1" "161200912" "161200912" "subst" "0" "01804" "NR1I3_000001" "g.161200912G>C" "" "" "" "NR1I3(NM_005122.5):c.806C>G (p.(Ser269Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973428" "0" "30" "1" "161203078" "161203078" "subst" "0.000463038" "01804" "NR1I3_000002" "g.161203078G>A" "" "" "" "NR1I3(NM_005122.5):c.289C>T (p.(Arg97Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989513" "0" "70" "1" "161200990" "161200990" "subst" "0" "00006" "NR1I3_000003" "g.161200990A>G" "" "{PMID:Kleefstra 2012:22726846}" "" "" "" "De novo" "" "" "0" "" "" "g.161231200A>G" "" "likely pathogenic (dominant)" "" "0000990483" "0" "30" "1" "161192879" "161192884" "dup" "0" "02325" "APOA2_000021" "g.161192879_161192884dup" "" "" "" "APOA2(NM_001643.2):c.53-11_53-6dupTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990484" "0" "30" "1" "161201121" "161201121" "subst" "5.43932E-5" "01804" "NR1I3_000004" "g.161201121C>T" "" "" "" "NR1I3(NM_001077481.2):c.692G>A (p.(Arg231His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990485" "0" "50" "1" "161202964" "161202964" "subst" "1.22024E-5" "01804" "NR1I3_000005" "g.161202964A>G" "" "" "" "NR1I3(NM_001077481.2):c.403T>C (p.(Phe135Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990486" "0" "30" "1" "161205733" "161205734" "dup" "0" "01804" "NR1I3_000006" "g.161205733_161205734dup" "" "" "" "NR1I3(NM_001077481.2):c.143_144dupCC (p.(Phe49fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031410" "0" "50" "1" "161199675" "161199675" "subst" "2.43976E-5" "01804" "NR1I3_000007" "g.161199675C>T" "" "" "" "NR1I3(NM_005122.5):c.959G>A (p.(Arg320Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031411" "0" "50" "1" "161207832" "161207832" "subst" "0" "01804" "NR1I3_000008" "g.161207832T>G" "" "" "" "NR1I3(NM_005122.5):c.-35A>C" "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 NR1I3 ## Count = 53 "{{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}}" "0000503994" "00025938" "30" "7787" "0" "7788" "0" "c.*6740_*6741dup" "r.(=)" "p.(=)" "" "0000503994" "00014777" "30" "7648" "0" "7649" "0" "c.*6625_*6626dup" "r.(=)" "p.(=)" "" "0000503995" "00025938" "10" "7787" "0" "7788" "0" "c.*6740_*6741dup" "r.(=)" "p.(=)" "" "0000503995" "00014777" "10" "7648" "0" "7649" "0" "c.*6625_*6626dup" "r.(=)" "p.(=)" "" "0000604950" "00025938" "10" "7779" "0" "7788" "0" "c.*6732_*6741del" "r.(=)" "p.(=)" "" "0000604950" "00014777" "10" "7640" "0" "7649" "0" "c.*6617_*6626del" "r.(=)" "p.(=)" "" "0000604951" "00025938" "10" "7783" "0" "7788" "0" "c.*6736_*6741del" "r.(=)" "p.(=)" "" "0000604951" "00014777" "10" "7644" "0" "7649" "0" "c.*6621_*6626del" "r.(=)" "p.(=)" "" "0000620421" "00025938" "30" "7787" "0" "7788" "0" "c.*6740_*6741dup" "r.(=)" "p.(=)" "" "0000620421" "00014777" "30" "7648" "0" "7649" "0" "c.*6625_*6626dup" "r.(=)" "p.(=)" "" "0000687923" "00025938" "30" "8303" "0" "8303" "0" "c.*7256A>C" "r.(=)" "p.(=)" "" "0000687923" "00014777" "30" "8164" "0" "8164" "0" "c.*7141A>C" "r.(=)" "p.(=)" "" "0000687924" "00025938" "30" "7779" "0" "7788" "0" "c.*6732_*6741del" "r.(=)" "p.(=)" "" "0000687924" "00014777" "30" "7640" "0" "7649" "0" "c.*6617_*6626del" "r.(=)" "p.(=)" "" "0000687925" "00025938" "30" "7787" "0" "7788" "0" "c.*6740_*6741del" "r.(=)" "p.(=)" "" "0000687925" "00014777" "30" "7648" "0" "7649" "0" "c.*6625_*6626del" "r.(=)" "p.(=)" "" "0000716947" "00025938" "30" "7785" "0" "7788" "0" "c.*6738_*6741dup" "r.(=)" "p.(=)" "" "0000716947" "00014777" "30" "7646" "0" "7649" "0" "c.*6623_*6626dup" "r.(=)" "p.(=)" "" "0000848360" "00025938" "30" "7785" "0" "7788" "0" "c.*6738_*6741dup" "r.(=)" "p.(=)" "" "0000848360" "00014777" "30" "7646" "0" "7649" "0" "c.*6623_*6626dup" "r.(=)" "p.(=)" "" "0000857108" "00025938" "10" "8123" "0" "8123" "0" "c.*7076G>C" "r.(=)" "p.(=)" "" "0000857108" "00014777" "10" "7984" "0" "7984" "0" "c.*6961G>C" "r.(=)" "p.(=)" "" "0000857109" "00025938" "30" "7785" "0" "7788" "0" "c.*6738_*6741del" "r.(=)" "p.(=)" "" "0000857109" "00014777" "30" "7646" "0" "7649" "0" "c.*6623_*6626del" "r.(=)" "p.(=)" "" "0000882879" "00025938" "50" "8378" "0" "8378" "0" "c.*7331C>T" "r.(=)" "p.(=)" "" "0000882879" "00014777" "50" "8239" "0" "8239" "0" "c.*7216C>T" "r.(=)" "p.(=)" "" "0000910828" "00025938" "50" "7832" "0" "7832" "0" "c.*6785G>A" "r.(=)" "p.(=)" "" "0000910828" "00014777" "50" "7693" "0" "7693" "0" "c.*6670G>A" "r.(=)" "p.(=)" "" "0000910829" "00025938" "30" "7781" "0" "7788" "0" "c.*6734_*6741dup" "r.(=)" "p.(=)" "" "0000910829" "00014777" "30" "7642" "0" "7649" "0" "c.*6619_*6626dup" "r.(=)" "p.(=)" "" "0000922992" "00025938" "10" "7781" "0" "7788" "0" "c.*6734_*6741del" "r.(=)" "p.(=)" "" "0000922992" "00014777" "10" "7642" "0" "7649" "0" "c.*6619_*6626del" "r.(=)" "p.(=)" "" "0000960595" "00025938" "30" "7785" "0" "7788" "0" "c.*6738_*6741dup" "r.(=)" "p.(=)" "" "0000960595" "00014777" "30" "7646" "0" "7649" "0" "c.*6623_*6626dup" "r.(=)" "p.(=)" "" "0000960597" "00025938" "10" "6951" "0" "6951" "0" "c.*5904C>T" "r.(=)" "p.(=)" "" "0000960597" "00014777" "10" "6812" "0" "6812" "0" "c.*5789C>T" "r.(=)" "p.(=)" "" "0000973427" "00025938" "50" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Ser269Cys)" "" "0000973427" "00014777" "50" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Ser269Cys)" "" "0000973428" "00025938" "30" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Trp)" "" "0000973428" "00014777" "30" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Trp)" "" "0000989513" "00014777" "70" "740" "0" "740" "0" "c.740T>C" "r.(?)" "p.(Phe247Ser)" "" "0000990483" "00025938" "30" "7783" "0" "7788" "0" "c.*6736_*6741dup" "r.(=)" "p.(=)" "" "0000990483" "00014777" "30" "7644" "0" "7649" "0" "c.*6621_*6626dup" "r.(=)" "p.(=)" "" "0000990484" "00025938" "30" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Arg231His)" "" "0000990484" "00014777" "30" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Arg231His)" "" "0000990485" "00025938" "50" "403" "0" "403" "0" "c.403T>C" "r.(?)" "p.(Phe135Leu)" "" "0000990485" "00014777" "50" "403" "0" "403" "0" "c.403T>C" "r.(?)" "p.(Phe135Leu)" "" "0000990486" "00025938" "30" "143" "0" "144" "0" "c.143_144dup" "r.(?)" "p.(Phe49Profs*25)" "" "0000990486" "00014777" "30" "143" "0" "144" "0" "c.143_144dup" "r.(?)" "p.(Phe49Profs*25)" "" "0001031410" "00025938" "50" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320Gln)" "" "0001031410" "00014777" "50" "933" "-113" "933" "-113" "c.933-113G>A" "r.(=)" "p.(=)" "" "0001031411" "00025938" "50" "-35" "0" "-35" "0" "c.-35A>C" "r.(?)" "p.(=)" "" "0001031411" "00014777" "50" "-35" "0" "-35" "0" "c.-35A>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000454629" "0000989513"