### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLAD1) # 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}}" "FLAD1" "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)" "1" "q22" "unknown" "NG_042310.1" "UD_136087062211" "" "https://www.LOVD.nl/FLAD1" "" "1" "24671" "80308" "610595" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FLAD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-19 08:06:38" "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}}" "00007993" "FLAD1" "transcript variant 1" "001" "NM_025207.4" "" "NP_079483.3" "" "" "" "-401" "1838" "1764" "154955770" "154965587" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01816" "MADD" "acyl-CoA dehydrogenation deficiency, multiple (MADD)" "AR" "231680" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05592" "LSMFLAD" "myopathy, lipid storage, due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)" "AR" "255100" "" "" "" "00006" "2019-04-16 07:30:24" "00006" "2020-09-16 15:35:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FLAD1" "05592" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00230572" "" "" "" "1" "" "01261" "{PMID:Puusepp 2019:31392824}, {DOI:Puusepp 2019:10.1002/mgg3.915}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Estonia" ">01y03m" "0" "" "" "" "patient" "00230646" "" "" "" "2" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, affectedsister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "Fam1" "00230647" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam2" "00230648" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam3" "00230649" "" "" "" "3" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "Fam4" "00230650" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam5" "00230651" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam6" "00230652" "" "" "" "1" "" "00006" "{PMID:Olsen 2016:27259049}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam7" "00230653" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}, {DB:BTHS}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "00y08m" "0" "" "" "" "Pat30" "00296597" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "M" "yes" "Turkey" "8m" "0" "" "" "" "Pat30" "00311076" "" "" "" "1" "" "03791" "" "" "F" "no" "Korea, South (Republic)" "" "0" "" "riboflavin" "" "" "00311085" "" "" "" "1" "" "00006" "{PMID:Ryder 2018:30311138}" "" "M" "" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00230572" "05592" "00230646" "01816" "00230647" "01816" "00230648" "01816" "00230649" "01816" "00230650" "01816" "00230651" "01816" "00230652" "01816" "00230653" "00244" "00296597" "00198" "00311076" "01816" "00311085" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01816, 05592 ## Count = 11 "{{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}}" "0000173063" "05592" "00230572" "01261" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LSMFLAD" "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" "" "0000173126" "01816" "00230646" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173127" "01816" "00230647" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173128" "01816" "00230648" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173129" "01816" "00230649" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173130" "01816" "00230650" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173131" "01816" "00230651" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173132" "01816" "00230652" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LSMFLAD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000173133" "00244" "00230653" "00006" "Familial, autosomal recessive" "" "see paper; ..., lipid storage myopathy; 4m-respiratory insufficiency, lipid myopathy, decreased activities of mitochondrial complexes I and IV; 8m-died" "00y04m" "" "" "" "" "" "" "" "LSMFLAD" "lipid storage myopathy" "" "0000224003" "00198" "00296597" "00006" "Familial, autosomal recessive" "8m" "deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; respiratory insufficiency" "4m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000236344" "00198" "00311085" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LSMFLAD" "MCAD deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000231665" "00230572" "1" "01261" "01261" "2019-04-13 19:10:34" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000231742" "00230646" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231743" "00230647" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231744" "00230648" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231745" "00230649" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231746" "00230650" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231747" "00230651" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231748" "00230652" "1" "00006" "00006" "2019-04-19 08:34:05" "" "" "SEQ" "DNA" "" "" "0000231749" "00230653" "1" "00006" "00006" "2019-04-19 08:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297707" "00296597" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312228" "00311076" "1" "03791" "03791" "2020-09-16 08:12:24" "" "" "SEQ-NG" "DNA" "" "" "0000312239" "00311085" "1" "00006" "00006" "2020-09-16 15:42:45" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000231742" "FLAD1" "0000231743" "FLAD1" "0000231744" "FLAD1" "0000231745" "FLAD1" "0000231746" "FLAD1" "0000231747" "FLAD1" "0000231748" "FLAD1" "0000312228" "FLAD1" "0000312239" "FLAD1" ## 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 = 26 "{{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}}" "0000321018" "0" "30" "1" "154955879" "154955880" "del" "0" "01804" "FLAD1_000001" "g.154955879_154955880del" "" "" "" "FLAD1(NM_001184891.1):c.-145+3_-145+4del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154983403_154983404del" "" "likely benign" "" "0000321019" "0" "50" "1" "154956533" "154956533" "subst" "2.95215E-5" "01804" "FLAD1_000002" "g.154956533G>T" "" "" "" "FLAD1(NM_001184891.1):c.72G>T (p.(Glu24Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154984057G>T" "" "VUS" "" "0000473736" "21" "90" "1" "154960650" "154960650" "subst" "4.06072E-6" "01261" "FLAD1_000003" "g.154960650C>T" "" "{PMID:Puusepp 2019:31392824}, {DOI:Puusepp 2019:10.1002/mgg3.915}" "" "" "" "Germline" "" "" "0" "" "" "g.154988174C>T" "" "pathogenic (recessive)" "" "0000473737" "11" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "01261" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Puusepp 2019:31392824}, {DOI:Puusepp 2019:10.1002/mgg3.915}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0000473819" "3" "90" "1" "154962934" "154962936" "del" "0" "00006" "FLAD1_000012" "g.154962934_154962936del" "" "{PMID:Olsen 2016:27259049}" "" "1484_1486delCCT" "" "Germline" "" "" "0" "" "" "g.154990458_154990460del" "" "pathogenic (recessive)" "" "0000473820" "11" "90" "1" "154960776" "154960777" "dup" "0" "00006" "FLAD1_000011" "g.154960776_154960777dup" "" "{PMID:Olsen 2016:27259049}" "" "568_569dupGC" "" "Germline" "" "" "0" "" "" "g.154988300_154988301dup" "" "pathogenic (recessive)" "" "0000473821" "11" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "00006" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Olsen 2016:27259049}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0000473822" "3" "90" "1" "154960734" "154960745" "del" "0" "00006" "FLAD1_000010" "g.154960734_154960745delinsCA" "" "{PMID:Olsen 2016:27259049}" "" "" "" "Germline" "" "" "0" "" "" "g.154988258_154988269delinsCA" "" "pathogenic (recessive)" "" "0000473823" "3" "90" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000009" "g.154960609_154960612del" "" "{PMID:Olsen 2016:27259049}" "" "401_404delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "pathogenic (recessive)" "" "0000473824" "11" "90" "1" "154956494" "154956494" "del" "0" "00006" "FLAD1_000006" "g.154956494del" "" "{PMID:Olsen 2016:27259049}" "" "324delG" "" "Germline" "" "" "0" "" "" "g.154984018del" "" "pathogenic (recessive)" "" "0000473825" "3" "90" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000009" "g.154960609_154960612del" "" "{PMID:Olsen 2016:27259049}" "" "401_404delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "pathogenic (recessive)" "" "0000473826" "3" "70" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000005" "g.154960609_154960612del" "" "{PMID:Taylor 2014:25058219}" "" "397_400delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "likely pathogenic" "" "0000473827" "21" "90" "1" "154960706" "154960706" "del" "0" "00006" "FLAD1_000007" "g.154960706del" "" "{PMID:Olsen 2016:27259049}" "" "498delC" "" "Germline" "" "" "0" "" "" "g.154988230del" "" "pathogenic (recessive)" "" "0000473828" "21" "50" "1" "154960716" "154960716" "subst" "1.62451E-5" "00006" "FLAD1_000008" "g.154960716T>C" "" "{PMID:Olsen 2016:27259049}" "" "Phe170Leu" "" "Germline" "" "" "0" "" "" "g.154988240T>C" "" "VUS" "" "0000473829" "21" "90" "1" "154965222" "154965222" "subst" "1.62423E-5" "00006" "FLAD1_000004" "g.154965222C>T" "" "{PMID:Olsen 2016:27259049}" "" "" "" "Germline" "" "" "0" "" "" "g.154992746C>T" "" "pathogenic (recessive)" "" "0000473830" "21" "90" "1" "154961044" "154961044" "del" "0" "00006" "FLAD1_000013" "g.154961044del" "" "{PMID:Olsen 2016:27259049}" "" "836delT" "" "Germline" "" "" "0" "" "" "g.154988568del" "" "pathogenic (recessive)" "" "0000660316" "3" "70" "1" "154960609" "154960612" "del" "0" "00006" "FLAD1_000009" "g.154960609_154960612del" "" "{PMID:Taylor 2014:25058219}" "" "c.397_400 delTTCT" "" "Germline" "" "" "0" "" "" "g.154988133_154988136del" "" "likely pathogenic (recessive)" "" "0000675491" "0" "30" "1" "154962819" "154962819" "subst" "0" "01943" "FLAD1_000016" "g.154962819A>G" "" "" "" "FLAD1(NM_025207.4):c.1369A>G (p.N457D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693785" "3" "90" "1" "154960953" "154960953" "subst" "2.43679E-5" "03791" "FLAD1_000017" "g.154960953C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154988477C>T" "" "pathogenic (recessive)" "ACMG" "0000693792" "3" "90" "1" "154960953" "154960953" "subst" "2.43679E-5" "00006" "FLAD1_000017" "g.154960953C>T" "" "{PMID:B.Ryder 2018:30311138}" "" "" "" "Germline" "" "" "0" "" "" "g.154988477C>T" "" "pathogenic (recessive)" "" "0000798809" "0" "30" "1" "154960937" "154960937" "subst" "0.00157569" "02326" "FLAD1_000018" "g.154960937C>T" "" "" "" "FLAD1(NM_025207.5):c.729C>T (p.F243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882809" "0" "30" "1" "154960853" "154960853" "subst" "0.000324897" "02326" "FLAD1_000019" "g.154960853A>G" "" "" "" "FLAD1(NM_025207.5):c.645A>G (p.E215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973354" "0" "50" "1" "154956380" "154956380" "dup" "0" "01804" "CKS1B_000001" "g.154956380dup" "" "" "" "FLAD1(NM_025207.5):c.210dup (p.(Gly71ArgfsTer31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973355" "0" "50" "1" "154960714" "154960714" "subst" "1.21838E-5" "01804" "FLAD1_000020" "g.154960714G>A" "" "" "" "FLAD1(NM_025207.5):c.506G>A (p.(Arg169His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973356" "0" "50" "1" "154965223" "154965223" "subst" "0.000154301" "01804" "FLAD1_000021" "g.154965223G>A" "" "" "" "FLAD1(NM_025207.5):c.1589G>A (p.(Arg530His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031309" "0" "50" "1" "154960995" "154960995" "subst" "0.000239765" "01804" "FLAD1_000022" "g.154960995C>T" "" "" "" "FLAD1(NM_025207.5):c.787C>T (p.(Arg263Trp))" "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 FLAD1 ## Count = 26 "{{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}}" "0000321018" "00007993" "30" "-292" "0" "-291" "0" "c.-292_-291del" "r.(?)" "p.(=)" "" "0000321019" "00007993" "50" "363" "0" "363" "0" "c.363G>T" "r.(?)" "p.(Glu121Asp)" "" "0000473736" "00007993" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "2" "0000473737" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "6" "0000473819" "00007993" "90" "1484" "0" "1486" "0" "c.1484_1486del" "r.(?)" "p.(Ser495del)" "" "0000473820" "00007993" "90" "568" "0" "569" "0" "c.568_569dup" "r.(?)" "p.(Val191Glnfs*10)" "" "0000473821" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0000473822" "00007993" "90" "526" "0" "537" "0" "c.526_537delinsCA" "r.(?)" "p.(Ala176Glnfs*8)" "" "0000473823" "00007993" "90" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000473824" "00007993" "90" "324" "0" "324" "0" "c.324del" "r.(?)" "p.(Arg109Alafs*3)" "" "0000473825" "00007993" "90" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000473826" "00007993" "70" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000473827" "00007993" "90" "498" "0" "498" "0" "c.498del" "r.(?)" "p.(Ser167Profs*20)" "" "0000473828" "00007993" "50" "508" "0" "508" "0" "c.508T>C" "r.(?)" "p.(Phe170Leu)" "" "0000473829" "00007993" "90" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0000473830" "00007993" "90" "836" "0" "836" "0" "c.836del" "r.(?)" "p.(Phe279Serfs*45)" "" "0000660316" "00007993" "70" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Phe134Cysfs*8)" "" "0000675491" "00007993" "30" "1369" "0" "1369" "0" "c.1369A>G" "r.(?)" "p.(Asn457Asp)" "" "0000693785" "00007993" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "2" "0000693792" "00007993" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "" "0000798809" "00007993" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Phe243=)" "" "0000882809" "00007993" "30" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Glu215=)" "" "0000973354" "00007993" "50" "210" "0" "210" "0" "c.210dup" "r.(?)" "p.(Gly71Argfs*31)" "" "0000973355" "00007993" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000973356" "00007993" "50" "1589" "0" "1589" "0" "c.1589G>A" "r.(?)" "p.(Arg530His)" "" "0001031309" "00007993" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000231665" "0000473736" "0000231665" "0000473737" "0000231742" "0000473819" "0000231743" "0000473820" "0000231743" "0000473829" "0000231744" "0000473821" "0000231744" "0000473830" "0000231745" "0000473822" "0000231746" "0000473823" "0000231747" "0000473824" "0000231747" "0000473827" "0000231747" "0000473828" "0000231748" "0000473825" "0000231749" "0000473826" "0000297707" "0000660316" "0000312228" "0000693785" "0000312239" "0000693792"