### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXRED1) # 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}}" "FOXRED1" "FAD-dependent oxidoreductase domain containing 1" "11" "q24.2" "unknown" "NG_028029.1" "UD_132119089238" "" "http://www.LOVD.nl/FOXRED1" "" "1" "26927" "55572" "613622" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FOXRED1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-29 18:53:42" "00006" "2025-12-05 13:23:08" ## 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}}" "00008118" "FOXRED1" "transcript variant 1" "001" "NM_017547.3" "" "NP_060017.1" "" "" "" "-167" "1904" "1461" "126138935" "126148027" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "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" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05940" "MC1DN19" "mitochondrial complex I deficiency, nuclear type 19 (MC1DN19)" "AR" "618241" "" "" "" "00006" "2021-05-19 09:46:53" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "FOXRED1" "00038" "FOXRED1" "00139" "FOXRED1" "00611" "FOXRED1" "05940" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00063250" "" "" "" "1" "" "01470" "" "" "M" "no" "Spain" "" "0" "" "" "" "" "00290291" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290292" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00373726" "" "" "" "1" "" "00006" "{PMID:Calvo 2010:20818383}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Australia" "" "0" "" "" "" "DT22" "00373727" "" "" "" "1" "" "00006" "{PMID:Fassone 2013:20858599}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "family" "00431882" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS122" "00470673" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat34" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00063250" "00611" "00290291" "00198" "00290292" "00198" "00373726" "00611" "00373727" "00611" "00431882" "02087" "00470673" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00139, 00198, 00611, 02087, 05940, 07210 ## Count = 5 "{{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}}" "0000050847" "00611" "00063250" "01470" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268950" "00611" "00373726" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN19" "Leigh syndrome" "" "0000268951" "00611" "00373727" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MC1DN19" "encephalomyopathy" "" "0000322451" "02087" "00431882" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000355567" "07210" "00470673" "00006" "Isolated (sporadic)" "13y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000063238" "00063250" "1" "01470" "01470" "2016-04-06 13:15:16" "" "" "SEQ-NG" "DNA" "Blood" "" "0000291459" "00290291" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291460" "00290292" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000374959" "00373726" "1" "00006" "00006" "2021-05-19 09:50:27" "" "" "SEQ;SEQ-NG" "DNA" "" "103-gene panel" "0000374960" "00373727" "1" "00006" "00006" "2021-05-19 09:58:11" "00006" "2021-05-19 10:00:01" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000433322" "00431882" "1" "01602" "01602" "2023-02-17 15:26:52" "" "" "SEQ-NG" "DNA" "" "" "0000472340" "00470673" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000063238" "FOXRED1" "0000374959" "FOXRED1" "0000374960" "FOXRED1" ## 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 = 31 "{{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}}" "0000094261" "0" "70" "11" "126146063" "126146063" "subst" "0.000151581" "01470" "FOXRED1_000002" "g.126146063G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.126276168G>A" "" "likely pathogenic" "" "0000094262" "0" "70" "11" "126145324" "126145324" "subst" "4.06461E-5" "01470" "FOXRED1_000001" "g.126145324G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126275429G>A" "" "likely pathogenic" "" "0000249446" "0" "30" "11" "126141370" "126141370" "subst" "0.00262718" "02325" "FOXRED1_000006" "g.126141370A>C" "" "" "" "FOXRED1(NM_017547.3):c.124A>C (p.K42Q), FOXRED1(NM_017547.4):c.124A>C (p.K42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126271475A>C" "" "likely benign" "" "0000255274" "0" "30" "11" "126142984" "126142984" "subst" "0.000951815" "01943" "FOXRED1_000007" "g.126142984A>G" "" "" "" "FOXRED1(NM_017547.3):c.417+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126273089A>G" "" "likely benign" "" "0000280870" "0" "10" "11" "126139100" "126139100" "subst" "0.79607" "02325" "FOXRED1_000003" "g.126139100T>C" "" "" "" "FOXRED1(NM_017547.4):c.-2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126269205T>C" "" "benign" "" "0000280871" "0" "10" "11" "126139313" "126139313" "subst" "0.802217" "02325" "FOXRED1_000005" "g.126139313T>A" "" "" "" "FOXRED1(NM_017547.4):c.85+127T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126269418T>A" "" "benign" "" "0000287870" "0" "30" "11" "126147035" "126147035" "subst" "0.00105279" "01943" "FOXRED1_000009" "g.126147035T>G" "" "" "" "FOXRED1(NM_017547.3):c.1171T>G (p.L391V, p.(Leu391Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126277140T>G" "" "likely benign" "" "0000287871" "0" "30" "11" "126143248" "126143248" "subst" "0.00106418" "01943" "FOXRED1_000008" "g.126143248C>T" "" "" "" "FOXRED1(NM_017547.3):c.435C>T (p.V145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126273353C>T" "" "likely benign" "" "0000322579" "0" "50" "11" "126135927" "126135927" "subst" "0" "01804" "FAM118B_000004" "g.126135927C>T" "" "" "" "SRPR(NM_001177842.1):c.898G>A (p.(Val300Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126266032C>T" "" "VUS" "" "0000350868" "0" "50" "11" "126137897" "126137897" "subst" "0" "02327" "SRPR_000001" "g.126137897C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126268002C>G" "" "VUS" "" "0000542914" "0" "50" "11" "126134973" "126134973" "subst" "0" "01943" "FAM118B_000002" "g.126134973G>C" "" "" "" "SRPRA(NM_001177842.1):c.1322C>G (p.T441S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126265078G>C" "" "VUS" "" "0000542915" "0" "50" "11" "126143262" "126143262" "subst" "4.06227E-5" "01943" "FAM118B_000006" "g.126143262T>G" "" "" "" "FOXRED1(NM_017547.3):c.449T>G (p.L150R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126273367T>G" "" "VUS" "" "0000542916" "0" "50" "11" "126144865" "126144865" "subst" "7.31024E-5" "02325" "FOXRED1_000010" "g.126144865C>T" "" "" "" "FOXRED1(NM_017547.4):c.580C>T (p.R194W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126274970C>T" "" "VUS" "" "0000542918" "0" "30" "11" "126145694" "126145694" "subst" "0" "01804" "FOXRED1_000012" "g.126145694G>T" "" "" "" "FOXRED1(NM_017547.3):c.739G>T (p.(Val247Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126275799G>T" "" "likely benign" "" "0000542920" "0" "30" "11" "126147035" "126147035" "subst" "0.00105279" "01804" "FOXRED1_000009" "g.126147035T>G" "" "" "" "FOXRED1(NM_017547.3):c.1171T>G (p.L391V, p.(Leu391Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126277140T>G" "" "likely benign" "" "0000613152" "0" "30" "11" "126141370" "126141370" "subst" "0.00262718" "01943" "FOXRED1_000006" "g.126141370A>C" "" "" "" "FOXRED1(NM_017547.3):c.124A>C (p.K42Q), FOXRED1(NM_017547.4):c.124A>C (p.K42Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126271475A>C" "" "likely benign" "" "0000648148" "1" "70" "11" "126142963" "126142963" "subst" "2.03201E-5" "03575" "FOXRED1_000014" "g.126142963C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININ11:126142963}" "Germline" "" "" "0" "" "" "g.126273068C>T" "" "likely pathogenic" "" "0000648149" "1" "50" "11" "126144865" "126144865" "subst" "7.31024E-5" "03575" "FOXRED1_000010" "g.126144865C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs191604046}" "Germline" "" "rs191604046" "0" "" "" "g.126274970C>T" "" "VUS" "" "0000723294" "0" "50" "11" "126145222" "126145222" "subst" "0.000259962" "02329" "FOXRED1_000011" "g.126145222G>C" "" "" "" "FOXRED1(NM_017547.4):c.632G>C (p.G211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723295" "0" "30" "11" "126145265" "126145265" "subst" "2.43766E-5" "01943" "FOXRED1_000015" "g.126145265G>T" "" "" "" "FOXRED1(NM_017547.3):c.675G>T (p.Q225H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785877" "21" "90" "11" "126147412" "126147412" "subst" "0" "00006" "FOXRED1_000016" "g.126147412A>G" "" "{PMID:Calvo 2010:20818383}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785878" "10" "90" "11" "126145284" "126145284" "subst" "8.12546E-6" "00006" "FOXRED1_000017" "g.126145284C>T" "" "{PMID:Calvo 2010:20818383}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785879" "3" "90" "11" "126146371" "126146371" "subst" "2.44501E-5" "00006" "FOXRED1_000018" "g.126146371C>T" "" "{PMID:Fassone 2013:20858599}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000889688" "0" "70" "11" "126145221" "126145221" "subst" "0" "02327" "FOXRED1_000019" "g.126145221G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000918969" "0" "70" "11" "126145323" "126145323" "subst" "8.12942E-6" "01602" "FOXRED1_000020" "g.126145323C>T" "" "" "" "" "" "Unknown" "" "rs545703077" "" "" "" "" "" "likely pathogenic" "ACMG" "0000979438" "0" "50" "11" "126145709" "126145709" "subst" "6.90608E-5" "01804" "FOXRED1_000021" "g.126145709C>T" "" "" "" "FOXRED1(NM_017547.4):c.754C>T (p.(Arg252Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979439" "0" "50" "11" "126147416" "126147416" "subst" "0" "01804" "FOXRED1_000022" "g.126147416G>C" "" "" "" "FOXRED1(NM_017547.4):c.1293G>C (p.(Met431Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979440" "0" "50" "11" "126147444" "126147444" "subst" "4.06871E-6" "01804" "FOXRED1_000023" "g.126147444G>A" "" "" "" "FOXRED1(NM_017547.4):c.1321G>A (p.(Gly441Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038318" "0" "50" "11" "126141451" "126141451" "subst" "8.93336E-5" "01804" "FAM118B_000008" "g.126141451G>A" "" "" "" "FOXRED1(NM_017547.4):c.205G>A (p.(Val69Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038319" "0" "50" "11" "126143336" "126143336" "subst" "0" "01804" "FAM118B_000009" "g.126143336G>A" "" "" "" "FOXRED1(NM_017547.4):c.523G>A (p.(Val175Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060810" "0" "70" "11" "126144897" "126144900" "dup" "0" "00006" "FOXRED1_000024" "g.126144897_126144900dup" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM3, PM2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.126275002_126275005dup" "" "likely pathogenic" "ACMG" ## 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 FOXRED1 ## Count = 31 "{{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}}" "0000094261" "00008118" "70" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Gly307Glu)" "8" "0000094262" "00008118" "70" "733" "1" "733" "1" "c.733+1G>A" "r.spl?" "p.?" "6i" "0000249446" "00008118" "30" "124" "0" "124" "0" "c.124A>C" "r.(?)" "p.(Lys42Gln)" "" "0000255274" "00008118" "30" "417" "10" "417" "10" "c.417+10A>G" "r.(=)" "p.(=)" "" "0000280870" "00008118" "10" "-2" "0" "-2" "0" "c.-2T>C" "r.(?)" "p.(=)" "" "0000280871" "00008118" "10" "85" "127" "85" "127" "c.85+127T>A" "r.(=)" "p.(=)" "" "0000287870" "00008118" "30" "1171" "0" "1171" "0" "c.1171T>G" "r.(?)" "p.(Leu391Val)" "" "0000287871" "00008118" "30" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Val145=)" "" "0000322579" "00008118" "50" "-3175" "0" "-3175" "0" "c.-3175C>T" "r.(?)" "p.(=)" "" "0000350868" "00008118" "50" "-1205" "0" "-1205" "0" "c.-1205C>G" "r.(?)" "p.(=)" "" "0000542914" "00008118" "50" "-4129" "0" "-4129" "0" "c.-4129G>C" "r.(?)" "p.(=)" "" "0000542915" "00008118" "50" "449" "0" "449" "0" "c.449T>G" "r.(?)" "p.(Leu150Arg)" "" "0000542916" "00008118" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "" "0000542918" "00008118" "30" "739" "0" "739" "0" "c.739G>T" "r.(?)" "p.(Val247Phe)" "" "0000542920" "00008118" "30" "1171" "0" "1171" "0" "c.1171T>G" "r.(?)" "p.(Leu391Val)" "" "0000613152" "00008118" "30" "124" "0" "124" "0" "c.124A>C" "r.(?)" "p.(Lys42Gln)" "" "0000648148" "00008118" "70" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Trp)" "" "0000648149" "00008118" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "" "0000723294" "00008118" "50" "632" "0" "632" "0" "c.632G>C" "r.(?)" "p.(Gly211Ala)" "" "0000723295" "00008118" "30" "675" "0" "675" "0" "c.675G>T" "r.(?)" "p.(Gln225His)" "" "0000785877" "00008118" "90" "1289" "0" "1289" "0" "c.1289A>G" "r.1289a>g" "p.Asn430Ser" "" "0000785878" "00008118" "90" "694" "0" "694" "0" "c.694C>T" "r.0" "p.0" "" "0000785879" "00008118" "90" "1054" "0" "1054" "0" "c.1054C>T" "r.1054c>u" "p.Arg352Trp" "" "0000889688" "00008118" "70" "632" "-1" "632" "-1" "c.632-1G>A" "r.spl?" "p.?" "" "0000918969" "00008118" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Cys)" "" "0000979438" "00008118" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Cys)" "" "0000979439" "00008118" "50" "1293" "0" "1293" "0" "c.1293G>C" "r.(?)" "p.(Met431Ile)" "" "0000979440" "00008118" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Gly441Arg)" "" "0001038318" "00008118" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Val69Met)" "" "0001038319" "00008118" "50" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Val175Met)" "" "0001060810" "00008118" "70" "612" "0" "615" "0" "c.612_615dup" "r.(?)" "p.(Ala206SerfsTer15)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000063238" "0000094261" "0000063238" "0000094262" "0000291459" "0000648148" "0000291460" "0000648149" "0000374959" "0000785877" "0000374959" "0000785878" "0000374960" "0000785879" "0000433322" "0000918969" "0000472340" "0001060810"