### 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" "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}}" "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 = 6 "{{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" "" "" ## 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 = 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}}" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00063250" "00611" "00290291" "00198" "00290292" "00198" "00373726" "00611" "00373727" "00611" "00431882" "02087" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00139, 00198, 00611, 02087, 05940 ## 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/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" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "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" "" "" ## 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 = 30 "{{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" "" ## 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 = 30 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000063238" "0000094261" "0000063238" "0000094262" "0000291459" "0000648148" "0000291460" "0000648149" "0000374959" "0000785877" "0000374959" "0000785878" "0000374960" "0000785879" "0000433322" "0000918969"