### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZBTB18) # 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}}" "ZBTB18" "zinc finger and BTB domain containing 18" "1" "q44" "unknown" "NG_033841.1" "UD_145628878867" "" "https://www.LOVD.nl/ZBTB18" "" "1" "13030" "10472" "608433" "1" "1" "1" "1" "alial ZNF238.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ZBTB18_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2017-08-03 00:00:00" "00006" "2021-06-14 18:55:25" "00000" "2024-02-26 20:06:56" ## 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}}" "00024304" "ZBTB18" "transcript variant 1" "002" "NM_205768.2" "" "NP_991331.1" "" "" "" "-173" "3702" "1596" "244214561" "244220778" "00006" "2017-08-03 09:43:31" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03124" "MRD22;del1q43q44" "mental retardation, autosomal dominant, type 22 (MRD22, 1q43-q44 deletion syndrome)" "AD" "612337" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "ZBTB18" "03124" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00111416" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "no" "" "" "0" "" "" "" "S_125" "00375640" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat8" "00385789" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "185943" "00435153" "" "" "" "2" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "P1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00111416" "00139" "00375640" "00198" "00385789" "03124" "00435153" "03124" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03124 ## 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}}" "0000087502" "00139" "00111416" "00729" "Isolated (sporadic)" "" "ID with IQ 50-60, microcephaly; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342)" "" "" "" "" "" "" "" "" "" "" "" "0000270853" "00198" "00375640" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; spastic diplegia; spastic diplegia, hypotonia, dystonia; hyper-reflexia; stereotyped behavior; MRI brain thin corpus callosum, cerebellar vermis hypoplasia" "" "4y" "" "" "" "" "" "" "" "" "" "0000279599" "03124" "00385789" "01164" "Isolated (sporadic)" "12y" "Intellectual disability, Hearing impairment, Seizure, Delayed speech and language development, Hypoplasia of the corpus callosum" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000111881" "00111416" "1" "00729" "00729" "2017-08-03 10:26:27" "" "" "SEQ-NG" "DNA" "" "" "0000376837" "00375640" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000387018" "00385789" "1" "01164" "01164" "2021-10-15 13:32:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000436624" "00435153" "1" "02494" "02494" "2023-05-23 12:58:31" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000111881" "ZBTB18" "0000387018" "ZBTB18" ## 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 = 35 "{{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}}" "0000179038" "0" "90" "1" "244217218" "244217218" "subst" "0" "00729" "ZBTB18_000001" "g.244217218C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.244053916C>T" "" "pathogenic" "" "0000313759" "0" "70" "1" "244218442" "244218442" "subst" "0" "02329" "ZBTB18_000007" "g.244218442T>C" "" "" "" "ZBTB18(NM_006352.4):c.1339T>C (p.F447L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244055140T>C" "" "likely pathogenic" "" "0000313760" "0" "70" "1" "244218471" "244218471" "subst" "0" "02329" "ZBTB18_000002" "g.244218471T>G" "" "" "" "ZBTB18(NM_006352.4):c.1368T>G (p.H456Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244055169T>G" "" "likely pathogenic" "" "0000320100" "0" "90" "1" "244217659" "244217659" "subst" "0" "01943" "ZBTB18_000005" "g.244217659C>T" "" "" "" "ZBTB18(NM_006352.4):c.556C>T (p.R186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244054357C>T" "" "pathogenic" "" "0000320101" "0" "70" "1" "244217655" "244217655" "subst" "0" "01943" "ZBTB18_000004" "g.244217655G>A" "" "" "" "ZBTB18(NM_006352.4):c.552G>A (p.W184*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244054353G>A" "" "likely pathogenic" "" "0000321413" "0" "50" "1" "244217762" "244217763" "del" "0" "01804" "ZBTB18_000011" "g.244217762_244217763del" "" "" "" "ZBTB18(NM_205768.2):c.684_685del (p.(Glu229ValfsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244054460_244054461del" "" "VUS" "" "0000506708" "0" "70" "1" "244217329" "244217329" "subst" "4.06147E-6" "02327" "ZBTB18_000009" "g.244217329G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244054027G>A" "" "likely pathogenic" "" "0000506710" "0" "50" "1" "244218216" "244218216" "subst" "0" "01804" "ZBTB18_000012" "g.244218216G>A" "" "" "" "ZBTB18(NM_001278196.1):c.1113G>A (p.(Met371Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244054914G>A" "" "VUS" "" "0000506711" "0" "70" "1" "244218383" "244218383" "subst" "0" "02327" "ZBTB18_000013" "g.244218383G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244055081G>A" "" "likely pathogenic" "" "0000506712" "0" "70" "1" "244218383" "244218383" "subst" "0" "02327" "ZBTB18_000014" "g.244218383G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244055081G>C" "" "likely pathogenic" "" "0000506713" "0" "50" "1" "244218467" "244218467" "subst" "0" "02327" "ZBTB18_000015" "g.244218467G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244055165G>A" "" "VUS" "" "0000506715" "0" "50" "1" "244218604" "244218604" "subst" "0" "02327" "ZBTB18_000017" "g.244218604G>A" "" "" "" "ZBTB18(NM_205768.3):c.1528G>A (p.E510K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244055302G>A" "" "VUS" "" "0000605593" "0" "50" "1" "244218354" "244218354" "subst" "0" "02325" "ZBTB18_000018" "g.244218354G>C" "" "" "" "ZBTB18(NM_006352.4):c.1251G>C (p.K417N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244055052G>C" "" "VUS" "" "0000653982" "0" "90" "1" "244218559" "244218559" "subst" "0" "02327" "ZBTB18_000019" "g.244218559C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244055257C>T" "" "pathogenic" "" "0000717367" "0" "50" "1" "244217200" "244217200" "subst" "0" "02325" "ZBTB18_000020" "g.244217200G>A" "" "" "" "ZBTB18(NM_205768.3):c.124G>A (p.A42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717368" "0" "30" "1" "244217415" "244217415" "subst" "0.00257529" "01943" "ZBTB18_000010" "g.244217415C>T" "" "" "" "ZBTB18(NM_006352.4):c.312C>T (p.L104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717369" "0" "90" "1" "244217659" "244217659" "subst" "0" "02327" "ZBTB18_000005" "g.244217659C>T" "" "" "" "ZBTB18(NM_006352.4):c.556C>T (p.R186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717370" "0" "70" "1" "244218415" "244218415" "subst" "0" "02329" "ZBTB18_000006" "g.244218415T>G" "" "" "" "ZBTB18(NM_006352.4):c.1312T>G (p.Y438D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717371" "0" "70" "1" "244218520" "244218520" "subst" "0" "02329" "ZBTB18_000016" "g.244218520C>T" "" "" "" "ZBTB18(NM_006352.4):c.1417C>T (p.R473C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717372" "0" "70" "1" "244218560" "244218560" "subst" "0" "02329" "ZBTB18_000021" "g.244218560G>C" "" "" "" "ZBTB18(NM_006352.4):c.1457G>C (p.R486P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000788892" "0" "70" "1" "244218458" "244218458" "subst" "0" "00006" "ZBTB18_000022" "g.244218458A>G" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.244055156A>G" "" "likely pathogenic" "" "0000814871" "0" "70" "1" "244217840" "244217841" "dup" "0" "01164" "ZBTB18_000023" "g.244217840_244217841dup" "" "" "" "" "ACMG: PVS1, PM2_SUP; single exome, partents not tested, assumed de novo" "Germline/De novo (untested)" "?" "" "0" "" "" "g.244054538_244054539dup" "" "likely pathogenic (dominant)" "ACMG" "0000848674" "0" "70" "1" "244218530" "244218530" "subst" "0" "02327" "ZBTB18_000024" "g.244218530C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883340" "0" "90" "1" "244217447" "244217447" "dup" "0" "02325" "ZBTB18_000025" "g.244217447dup" "" "" "" "ZBTB18(NM_205768.3):c.371dupA (p.K125Efs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883341" "0" "90" "1" "244218177" "244218177" "del" "0" "02329" "ZBTB18_000026" "g.244218177del" "" "" "" "ZBTB18(NM_205768.3):c.1101delC (p.Y367*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911022" "0" "90" "1" "244218358" "244218359" "del" "0" "02326" "ZBTB18_000027" "g.244218358_244218359del" "" "" "" "ZBTB18(NM_205768.2):c.1282_1283delTT (p.F428Lfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923141" "0" "70" "1" "244217390" "244217390" "subst" "0" "02329" "ZBTB18_000028" "g.244217390A>G" "" "" "" "ZBTB18(NM_006352.4):c.287A>G (p.D96G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927669" "0" "70" "1" "244217217" "244217217" "subst" "0" "02494" "ZBTB18_000029" "g.244217217C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000928151" "0" "50" "1" "244218078" "244218078" "subst" "0" "02325" "ZBTB18_000030" "g.244218078G>C" "" "" "" "ZBTB18(NM_205768.3):c.1002G>C (p.E334D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947189" "0" "50" "1" "244218301" "244218301" "subst" "4.09698E-6" "02329" "ZBTB18_000031" "g.244218301C>T" "" "" "" "ZBTB18(NM_006352.4):c.1198C>T (p.R400C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960975" "0" "50" "1" "244218604" "244218604" "subst" "0" "02325" "ZBTB18_000017" "g.244218604G>A" "" "" "" "ZBTB18(NM_205768.3):c.1528G>A (p.E510K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991053" "0" "30" "1" "244217705" "244217705" "subst" "4.06474E-6" "01804" "ZBTB18_000032" "g.244217705C>T" "" "" "" "ZBTB18(NM_006352.4):c.602C>T (p.(Ala201Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991054" "0" "50" "1" "244217725" "244217725" "subst" "0" "01804" "ZBTB18_000033" "g.244217725G>A" "" "" "" "ZBTB18(NM_006352.4):c.622G>A (p.(Gly208Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991055" "0" "90" "1" "244218445" "244218445" "subst" "0" "02329" "ZBTB18_000034" "g.244218445C>T" "" "" "" "ZBTB18(NM_205768.3):c.1369C>T (p.Q457*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991056" "0" "70" "1" "244218538" "244218538" "subst" "0" "02325" "ZBTB18_000035" "g.244218538G>A" "" "" "" "ZBTB18(NM_205768.3):c.1462G>A (p.G488R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 ZBTB18 ## Count = 35 "{{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}}" "0000179038" "00024304" "90" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48*)" "" "0000313759" "00024304" "70" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Phe456Leu)" "" "0000313760" "00024304" "70" "1395" "0" "1395" "0" "c.1395T>G" "r.(?)" "p.(His465Gln)" "" "0000320100" "00024304" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Ter)" "" "0000320101" "00024304" "70" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Trp193Ter)" "" "0000321413" "00024304" "50" "686" "0" "687" "0" "c.686_687del" "r.(?)" "p.(Glu229ValfsTer17)" "" "0000506708" "00024304" "70" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "" "0000506710" "00024304" "50" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Met380Ile)" "" "0000506711" "00024304" "70" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436His)" "" "0000506712" "00024304" "70" "1307" "0" "1307" "0" "c.1307G>C" "r.(?)" "p.(Arg436Pro)" "" "0000506713" "00024304" "50" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Arg464His)" "" "0000506715" "00024304" "50" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Glu510Lys)" "" "0000605593" "00024304" "50" "1278" "0" "1278" "0" "c.1278G>C" "r.(?)" "p.(Lys426Asn)" "" "0000653982" "00024304" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Cys)" "" "0000717367" "00024304" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Ala42Thr)" "" "0000717368" "00024304" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Leu113=)" "" "0000717369" "00024304" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Ter)" "" "0000717370" "00024304" "70" "1339" "0" "1339" "0" "c.1339T>G" "r.(?)" "p.(Tyr447Asp)" "" "0000717371" "00024304" "70" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Cys)" "" "0000717372" "00024304" "70" "1484" "0" "1484" "0" "c.1484G>C" "r.(?)" "p.(Arg495Pro)" "" "0000788892" "00024304" "70" "1382" "0" "1382" "0" "c.1382A>G" "r.(?)" "p.(Asn461Ser)" "" "0000814871" "00024304" "70" "764" "0" "765" "0" "c.764_765dup" "r.(?)" "p.(Ser256Profs*9)" "2" "0000848674" "00024304" "70" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Thr485Met)" "" "0000883340" "00024304" "90" "371" "0" "371" "0" "c.371dup" "r.(?)" "p.(Lys125Glufs*43)" "" "0000883341" "00024304" "90" "1101" "0" "1101" "0" "c.1101del" "r.(?)" "p.(Tyr367*)" "" "0000911022" "00024304" "90" "1282" "0" "1283" "0" "c.1282_1283del" "r.(?)" "p.(Phe428Leufs*72)" "" "0000923141" "00024304" "70" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Asp105Gly)" "" "0000927669" "00024304" "70" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(His47Gln)" "" "0000928151" "00024304" "50" "1002" "0" "1002" "0" "c.1002G>C" "r.(?)" "p.(Glu334Asp)" "" "0000947189" "00024304" "50" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Cys)" "" "0000960975" "00024304" "50" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Glu510Lys)" "" "0000991053" "00024304" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" "0000991054" "00024304" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Ala217Thr)" "" "0000991055" "00024304" "90" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Gln457*)" "" "0000991056" "00024304" "70" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Gly488Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000111881" "0000179038" "0000376837" "0000788892" "0000387018" "0000814871" "0000436624" "0000927669"