### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRF6) # 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}}" "IRF6" "interferon regulatory factor 6" "1" "q32.2-q32.3" "unknown" "NG_007081.2" "UD_132085325041" "" "http://www.LOVD.nl/IRF6" "" "1" "6121" "3664" "607199" "1" "1" "1" "1" " This database is one of the \"Cleft lip and palate\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium)." "" "g" "http://databases.lovd.nl/shared/refseq/IRF6_codingDNA.html" "1" "" " This database is one of the \"Cleft lip and palate\" gene variant databases." "-1" "" "-1" "00001" "2010-01-12 00:00:00" "00006" "2016-11-25 11:24:23" "00000" "2026-07-16 18:08:04" ## 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}}" "00010139" "IRF6" "transcript variant 1" "002" "NM_006147.3" "" "NP_006138.1" "" "" "" "-304" "4201" "1404" "209979520" "209958968" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00434" "VWS1" "Van Der Woude syndrome, type 1" "AD" "119300" "" "" "" "00006" "2014-06-25 11:36:06" "00006" "2025-10-12 18:42:15" "00866" "PPS" "popliteal pterygium syndrome" "AD" "119500" "" "orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; no sparse hair; lip pits; nails; hypodontia" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 15:17:19" "00867" "OFC6" "orofacial cleft, type 6 (OFC-6)" "AD" "608864" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05586" "OFC" "cleft, orofacial (OFC)" "" "" "" "" "" "00006" "2019-03-29 16:06:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "IRF6" "00434" "IRF6" "00866" "IRF6" "00867" ## 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}}" "00017618" "" "" "" "1" "" "00705" "{PMID:Peyrard-Janvid 2014:24360809}" "2 generation family, 1 affected" "-" "no" "Pakistan" "" "0" "" "" "Pakistani" "" "00235379" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00289276" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00310374" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00426644" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?" "00462242" "" "" "" "1" "" "00006" "{PMID:Leslie 2015:25691407}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "" "PPS1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00017618" "00434" "00235379" "00434" "00289276" "00198" "00310374" "00434" "00426644" "05586" "00462242" "00866" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00434, 00866, 00867, 05586 ## Count = 4 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000016169" "00434" "00017618" "00006" "Isolated (sporadic)" "" "unknown phenotype parents; cleft lip/pallet, lip pits" "" "" "" "" "" "" "" "" "" "" "0000222907" "00198" "00289276" "01164" "Unknown" "" "Oral cleft (HP:0000202); Median cleft lip and palate (HP:0008501)" "" "" "" "" "" "" "" "" "" "" "0000317796" "05586" "00426644" "00000" "Unknown" "" "right cleft lip with palate" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" "" "0000349742" "00866" "00462242" "00006" "Familial, autosomal recessive" "" "see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; no sparse hair; lip pits" "" "" "" "" "" "" "" "PPS" "popliteal pterygia syndrome" "" ## 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}}" "0000017601" "00017618" "1" "00705" "00705" "2014-06-25 10:53:48" "00006" "2014-06-29 23:03:06" "SEQ" "DNA" "" "" "0000236481" "00235379" "1" "01741" "01741" "2019-05-24 12:32:42" "" "" "SEQ" "DNA" "" "" "0000290446" "00289276" "1" "01164" "01164" "2020-03-02 12:26:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000311526" "00310374" "1" "01741" "01741" "2020-09-10 12:49:10" "" "" "SEQ" "DNA" "" "" "0000427962" "00426644" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study" "0000463874" "00462242" "1" "00006" "00006" "2025-02-06 16:00:06" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000017601" "GRHL3" "0000017601" "IRF6" "0000236481" "IRF6" "0000311526" "IRF6" "0000427962" "IRF6" "0000463874" "IRF6" ## 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}}" "0000037953" "0" "50" "1" "209969833" "209969833" "subst" "0" "00006" "IRF6_000051" "g.209969833T>C" "" "{PMID:Malik 2010:20184620}" "" "" "" "Germline" "" "" "0" "" "" "g.209796488T>C" "" "VUS" "" "0000251208" "0" "10" "1" "209962944" "209962944" "subst" "0" "02326" "IRF6_000053" "g.209962944A>G" "" "" "" "IRF6(NM_006147.4):c.1179+68T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209789599A>G" "" "benign" "" "0000281560" "0" "10" "1" "209969902" "209969902" "subst" "0.322901" "02325" "IRF6_000060" "g.209969902G>C" "" "" "" "IRF6(NM_006147.4):c.175-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209796557G>C" "" "benign" "" "0000281561" "0" "10" "1" "209968684" "209968684" "subst" "0.409527" "02325" "IRF6_000058" "g.209968684C>A" "" "" "" "IRF6(NM_006147.4):c.459G>T (p.S153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209795339C>A" "" "benign" "" "0000281562" "0" "30" "1" "209963903" "209963903" "subst" "4.06114E-5" "02325" "IRF6_000054" "g.209963903C>T" "" "" "" "IRF6(NM_006147.4):c.997G>A (p.A333T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209790558C>T" "" "likely benign" "" "0000285345" "0" "90" "1" "209961971" "209961971" "subst" "0" "02326" "IRF6_000052" "g.209961971G>A" "" "" "" "IRF6(NM_006147.4):c.1198C>T (p.R400W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209788626G>A" "" "pathogenic" "" "0000285346" "0" "70" "1" "209969866" "209969866" "subst" "0" "02326" "IRF6_000059" "g.209969866T>C" "" "" "" "IRF6(NM_006147.4):c.206A>G (p.E69G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209796521T>C" "" "likely pathogenic" "" "0000285347" "0" "50" "1" "209965659" "209965659" "subst" "0" "02326" "IRF6_000057" "g.209965659G>A" "" "" "" "IRF6(NM_006147.4):c.622C>T (p.Q208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209792314G>A" "" "VUS" "" "0000285348" "0" "70" "1" "209964081" "209964081" "subst" "0" "02326" "IRF6_000056" "g.209964081C>G" "" "" "" "IRF6(NM_006147.4):c.819G>C (p.Q273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209790736C>G" "" "likely pathogenic" "" "0000285349" "0" "50" "1" "209963999" "209963999" "subst" "0" "02326" "IRF6_000055" "g.209963999C>T" "" "" "" "IRF6(NM_006147.4):c.901G>A (p.G301R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209790654C>T" "" "VUS" "" "0000343546" "0" "70" "1" "209974734" "209974734" "subst" "0" "02327" "IRF6_000061" "g.209974734G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.209801389G>A" "" "likely pathogenic" "" "0000480439" "0" "70" "1" "209961896" "209961912" "del" "0" "01741" "IRF6_000062" "g.209961896_209961912del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.209788551_209788567del" "" "likely pathogenic" "" "0000505050" "0" "90" "1" "209963052" "209963052" "subst" "0" "02327" "C1orf74_000002" "g.209963052G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209789707G>T" "" "pathogenic" "" "0000505051" "0" "50" "1" "209965760" "209965760" "subst" "2.03168E-5" "02327" "IRF6_000063" "g.209965760G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209792415G>A" "" "VUS" "" "0000605121" "0" "50" "1" "209961851" "209961851" "subst" "4.06081E-6" "01804" "C1orf74_000003" "g.209961851A>G" "" "" "" "IRF6(NM_001206696.1):c.1033T>C (p.(Tyr345His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209788506A>G" "" "VUS" "" "0000605122" "0" "90" "1" "209961959" "209961959" "subst" "0" "02327" "C1orf74_000004" "g.209961959C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.209788614C>T" "" "pathogenic" "" "0000647111" "0" "70" "1" "209964152" "209964152" "subst" "0" "01164" "IRF6_000065" "g.209964152G>A" "" "" "" "" "ACMG: PVS1,PM2; cleft lip and palate, younger brother, sister of the mother and her daughter, brother of the mother as well as grandmother mtls also affected; Recent miscarriages; Desmyter et al. 2010. Mol Syndromol 1: 67" "Germline" "" "" "0" "" "" "g.209790807G>A" "" "likely pathogenic" "ACMG" "0000675619" "0" "50" "1" "209963840" "209963840" "subst" "0.000235571" "01943" "IRF6_000066" "g.209963840C>T" "" "" "" "IRF6(NM_006147.3):c.1060G>A (p.D354N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686956" "0" "70" "1" "209963848" "209963848" "subst" "0" "01741" "IRF6_000067" "g.209963848A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000688004" "0" "90" "1" "209964227" "209964227" "subst" "0" "02327" "IRF6_000068" "g.209964227C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799048" "0" "50" "1" "209961889" "209961889" "subst" "0" "02327" "C1orf74_000005" "g.209961889T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799049" "0" "90" "1" "209969870" "209969870" "subst" "0" "02325" "IRF6_000069" "g.209969870G>A" "" "" "" "IRF6(NM_006147.4):c.202C>T (p.Q68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799050" "0" "90" "1" "209974743" "209974743" "subst" "0" "02327" "IRF6_000070" "g.209974743G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857246" "0" "70" "1" "209963115" "209963115" "subst" "0" "02327" "IRF6_000071" "g.209963115T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000905533" "0" "50" "1" "209968720" "209968722" "del" "0" "00000" "IRF6_000072" "g.209968720_209968722del" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "IRF6 c.421_423del, p.141_141del" "risk factor" "Unknown" "?" "" "0" "" "" "g.209795375_209795377del" "" "association" "" "0000910922" "0" "90" "1" "209969822" "209969822" "subst" "0" "02325" "IRF6_000073" "g.209969822G>A" "" "" "" "IRF6(NM_006147.4):c.250C>T (p.R84C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910923" "0" "90" "1" "209974685" "209974685" "subst" "0" "02326" "IRF6_000074" "g.209974685C>A" "" "" "" "IRF6(NM_006147.4):c.74G>T (p.G25V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947112" "0" "30" "1" "209964141" "209964141" "subst" "0.00246606" "02326" "IRF6_000075" "g.209964141A>G" "" "" "" "IRF6(NM_006147.4):c.759T>C (p.Y253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990793" "0" "30" "1" "209961803" "209961803" "subst" "3.65613E-5" "01804" "C1orf74_000006" "g.209961803G>A" "" "" "" "IRF6(NM_006147.3):c.1366C>T (p.(Pro456Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990794" "0" "30" "1" "209964141" "209964141" "subst" "0.00246606" "02325" "IRF6_000075" "g.209964141A>G" "" "" "" "IRF6(NM_006147.4):c.759T>C (p.Y253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013272" "0" "90" "1" "209974625" "209974625" "subst" "4.06072E-6" "02327" "IRF6_000076" "g.209974625C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001023931" "3" "90" "1" "209961853" "209961853" "subst" "0" "00006" "IRF6_000077" "g.209961853A>G" "" "{PMID:Leslie 2015:25691407}" "" "" "" "Germline" "" "" "0" "" "" "g.209788508A>G" "" "pathogenic (recessive)" "" "0001024101" "0" "70" "1" "209963926" "209963926" "subst" "0" "02329" "IRF6_000078" "g.209963926C>T" "" "" "" "IRF6(NM_006147.4):c.974G>A (p.G325E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031629" "0" "30" "1" "209964095" "209964095" "subst" "2.85195E-5" "01804" "IRF6_000079" "g.209964095C>T" "" "" "" "IRF6(NM_006147.4):c.805G>A (p.(Val269Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031630" "0" "90" "1" "209969821" "209969821" "subst" "0" "02326" "IRF6_000080" "g.209969821C>T" "" "" "" "IRF6(NM_006147.4):c.251G>A (p.R84H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050419" "0" "30" "1" "209965781" "209965781" "subst" "4.07037E-6" "01804" "IRF6_000081" "g.209965781A>G" "" "" "" "IRF6(NM_006147.4):c.509-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001080238" "0" "90" "1" "209961971" "209961971" "subst" "0" "03779" "IRF6_000052" "g.209961971G>A" "" "" "" "" "" "Unknown" "" "rs28942095" "0" "" "" "" "" "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 IRF6 ## 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}}" "0000037953" "00010139" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000251208" "00010139" "10" "1179" "68" "1179" "68" "c.1179+68T>C" "r.(=)" "p.(=)" "" "0000281560" "00010139" "10" "175" "-5" "175" "-5" "c.175-5C>G" "r.spl?" "p.?" "" "0000281561" "00010139" "10" "459" "0" "459" "0" "c.459G>T" "r.(?)" "p.(Ser153=)" "" "0000281562" "00010139" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Ala333Thr)" "" "0000285345" "00010139" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Trp)" "" "0000285346" "00010139" "70" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Glu69Gly)" "" "0000285347" "00010139" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Gln208Ter)" "" "0000285348" "00010139" "70" "819" "0" "819" "0" "c.819G>C" "r.(?)" "p.(Gln273His)" "" "0000285349" "00010139" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "" "0000343546" "00010139" "70" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Trp)" "" "0000480439" "00010139" "70" "1259" "0" "1275" "0" "c.1259_1275del" "r.(?)" "p.(Arg420Profs*6)" "" "0000505050" "00010139" "90" "1139" "0" "1139" "0" "c.1139C>A" "r.(?)" "p.(Pro380Gln)" "" "0000505051" "00010139" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" "" "0000605121" "00010139" "50" "1318" "0" "1318" "0" "c.1318T>C" "r.(?)" "p.(Tyr440His)" "" "0000605122" "00010139" "90" "1210" "0" "1210" "0" "c.1210G>A" "r.(?)" "p.(Glu404Lys)" "" "0000647111" "00010139" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250*)" "" "0000675619" "00010139" "50" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Asp354Asn)" "" "0000686956" "00010139" "70" "1052" "0" "1052" "0" "c.1052T>C" "r.(?)" "p.(Phe351Ser)" "" "0000688004" "00010139" "90" "673" "0" "673" "0" "c.673G>C" "r.(?)" "p.(Asp225His)" "" "0000799048" "00010139" "50" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Asp427Gly)" "" "0000799049" "00010139" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Gln68*)" "" "0000799050" "00010139" "90" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000857246" "00010139" "70" "1076" "0" "1076" "0" "c.1076A>G" "r.(?)" "p.(Gln359Arg)" "" "0000905533" "00010139" "50" "421" "0" "423" "0" "c.421_423del" "r.(?)" "p.(Val141del)" "" "0000910922" "00010139" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000910923" "00010139" "90" "74" "0" "74" "0" "c.74G>T" "r.(?)" "p.(Gly25Val)" "" "0000947112" "00010139" "30" "759" "0" "759" "0" "c.759T>C" "r.(?)" "p.(=)" "" "0000990793" "00010139" "30" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Pro456Ser)" "" "0000990794" "00010139" "30" "759" "0" "759" "0" "c.759T>C" "r.(?)" "p.(=)" "" "0001013272" "00010139" "90" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Arg45Gln)" "" "0001023931" "00010139" "90" "1316" "0" "1316" "0" "c.1316T>C" "r.(?)" "p.(Leu439Pro)" "" "0001024101" "00010139" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Glu)" "" "0001031629" "00010139" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Ile)" "" "0001031630" "00010139" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "" "0001050419" "00010139" "30" "509" "-9" "509" "-9" "c.509-9T>C" "r.(=)" "p.(=)" "" "0001080238" "00010139" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000017601" "0000037953" "0000236481" "0000480439" "0000290446" "0000647111" "0000311526" "0000686956" "0000427962" "0000905533" "0000463874" "0001023931"