### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IDH3A) # 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}}" "IDH3A" "isocitrate dehydrogenase 3 (NAD+) alpha" "15" "q25.1-q25.2" "unknown" "NC_000015.9" "UD_132378455063" "" "https://www.LOVD.nl/IDH3A" "" "1" "5384" "3419" "601149" "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/IDH3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-18 13:47:23" "00006" "2025-04-07 13:47:05" ## 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}}" "00009784" "IDH3A" "isocitrate dehydrogenase 3 (NAD+) alpha" "001" "NM_005530.2" "" "NP_005521.1" "" "" "" "-27" "2638" "1101" "78441719" "78462884" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06965" "RP90" "retinitis pigmentosa, type 90" "AR" "619007" "" "" "" "00006" "2022-09-18 13:47:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IDH3A" "00112" "IDH3A" "06965" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00309191" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309192" "" "" "" "2" "" "00004" "{PMID:Pierrache 2017:28412069}, {PMID:Sharon 2019:31456290}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Israel" "" "0" "" "" "" "FamB" "00309521" "" "" "" "2" "" "00006" "{PMID:Pierrache 2017:28412069}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Netherlands" "" "0" "" "" "" "FamA" "00309522" "" "" "" "1" "" "00006" "{PMID:Pierrache 2017:28412069}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Netherlands" "" "0" "" "" "" "FamC" "00309523" "" "" "" "2" "" "00006" "{PMID:Pierrache 2017:28412069}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "F" "" "South Africa" "" "0" "" "" "" "FamD" "00309840" "" "" "" "1" "" "00006" "{PMID:Sun 2018:30058936}" "" "M" "" "China" "" "0" "" "" "" "patient" "00309841" "" "" "" "1" "" "00006" "{PMID:Peter 2019:31012789}" "" "M" "" "Bosnia and Herzegovina" "" "0" "" "" "" "102150L96" "00309842" "" "" "" "1" "" "00006" "{PMID:Fattal-Valevski 2017:28058510}" "" "M" "no" "Israel" "" "0" "" "" "African-N;Jewish" "patient" "00429491" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429627" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00309191" "04214" "00309192" "04214" "00309521" "04214" "00309522" "04214" "00309523" "04214" "00309840" "04214" "00309841" "04214" "00309842" "04214" "00429491" "00112" "00429627" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 04214, 06965 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000234511" "04214" "00309191" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000234512" "04214" "00309192" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa, pseudocoloboma" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000234841" "04214" "00309521" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa, pseudocoloboma" "" "" "" "" "" "" "" "" "retinal disease" "0000234842" "04214" "00309522" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa, pseudocoloboma" "" "" "" "" "" "" "" "" "retinal disease" "0000234843" "04214" "00309523" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinitis pigmentosa, pseudocoloboma" "" "" "" "" "" "" "" "" "retinal disease" "0000235156" "04214" "00309840" "00006" "Familial, autosomal recessive" "" "see paper; ..., nystagmus, strabismus, Leber congenital amaurosis, macular pseudocoloboma" "" "" "" "" "" "" "" "7y" "nystagmus, strabismus" "0000235157" "04214" "00309841" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000235158" "04214" "00309842" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000320363" "00112" "00429491" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000320499" "04214" "00429627" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000310336" "00309191" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310337" "00309192" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310666" "00309521" "1" "00006" "00006" "2020-08-28 15:37:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310667" "00309522" "1" "00006" "00006" "2020-08-28 15:37:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310668" "00309523" "1" "00006" "00006" "2020-08-28 15:37:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310985" "00309840" "1" "00006" "00006" "2020-09-04 13:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310986" "00309841" "1" "00006" "00006" "2020-09-04 13:51:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310987" "00309842" "1" "00006" "00006" "2020-09-04 13:56:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430904" "00429491" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431040" "00429627" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000310336" "IDH3A" "0000310337" "IDH3A" "0000310666" "IDH3A" "0000310667" "IDH3A" "0000310668" "IDH3A" "0000310985" "IDH3A" "0000310987" "IDH3A" "0000430904" "IDH3A" "0000431040" "IDH3A" ## 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 = 34 "{{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}}" "0000347784" "0" "50" "15" "78456059" "78456059" "subst" "0" "02327" "IDH3A_000002" "g.78456059T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78163717T>C" "" "VUS" "" "0000555567" "0" "30" "15" "78454590" "78454590" "subst" "4.0622E-6" "01943" "IDH3A_000003" "g.78454590C>T" "" "" "" "IDH3A(NM_005530.3):c.492C>T (p.V164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78162248C>T" "" "likely benign" "" "0000555568" "0" "30" "15" "78458483" "78458483" "subst" "2.03817E-5" "01943" "ACSBG1_000004" "g.78458483G>A" "" "" "" "IDH3A(NM_005530.3):c.865-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78166141G>A" "" "likely benign" "" "0000555569" "0" "50" "15" "78458537" "78458537" "subst" "0" "01943" "ACSBG1_000005" "g.78458537C>A" "" "" "" "IDH3A(NM_005530.3):c.910C>A (p.P304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78166195C>A" "" "VUS" "" "0000555570" "0" "30" "15" "78458617" "78458617" "subst" "0.0003005" "01943" "ACSBG1_000006" "g.78458617G>A" "" "" "" "IDH3A(NM_005530.3):c.990G>A (p.A330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78166275G>A" "" "likely benign" "" "0000555571" "0" "50" "15" "78461324" "78461324" "subst" "0.00228908" "01943" "ACSBG1_000007" "g.78461324C>T" "" "" "" "IDH3A(NM_005530.3):c.1078C>T (p.R360C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78168982C>T" "" "VUS" "" "0000615546" "0" "30" "15" "78452427" "78452427" "subst" "1.62491E-5" "01943" "IDH3A_000004" "g.78452427C>T" "" "" "" "IDH3A(NM_005530.3):c.175-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78160085C>T" "" "likely benign" "" "0000615547" "0" "10" "15" "78457355" "78457355" "subst" "0.000268142" "02330" "IDH3A_000006" "g.78457355C>T" "" "" "" "IDH3A(NM_005530.3):c.801C>T (p.I267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78165013C>T" "" "benign" "" "0000623305" "0" "50" "15" "78454100" "78454100" "subst" "0" "01943" "IDH3A_000005" "g.78454100T>C" "" "" "" "IDH3A(NM_005530.3):c.467T>C (p.I156T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78161758T>C" "" "VUS" "" "0000680299" "0" "30" "15" "78452463" "78452463" "subst" "0" "01943" "IDH3A_000007" "g.78452463C>T" "" "" "" "IDH3A(NM_005530.3):c.204C>T (p.V68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685247" "1" "90" "15" "78458538" "78458538" "subst" "2.03057E-5" "00004" "IDH3A_000009" "g.78458538C>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000685248" "21" "90" "15" "78458565" "78458565" "subst" "0.000268012" "00006" "IDH3A_000008" "g.78458565T>C" "2/2420 IRD families" "{PMID:Pierrache 2017:28412069}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000685593" "11" "90" "15" "78458538" "78458538" "subst" "2.03057E-5" "00006" "IDH3A_000009" "g.78458538C>A" "" "{PMID:Pierrache 2017:28412069}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685594" "2" "90" "15" "78458565" "78458565" "subst" "0.000268012" "00004" "IDH3A_000008" "g.78458565T>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685595" "11" "90" "15" "78456059" "78456059" "subst" "0" "00006" "IDH3A_000002" "g.78456059T>C" "" "{PMID:Pierrache 2017:28412069}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685596" "3" "90" "15" "78454622" "78454622" "subst" "4.06167E-6" "00006" "IDH3A_000012" "g.78454622C>T" "" "{PMID:Pierrache 2017:28412069}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685597" "2" "90" "15" "78454096" "78454096" "subst" "0" "00006" "IDH3A_000010" "g.78454096G>T" "" "{PMID:Pierrache 2017:28412069}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685598" "21" "90" "15" "78458573" "78458573" "subst" "1.21827E-5" "00006" "IDH3A_000011" "g.78458573C>T" "" "{PMID:Pierrache 2017:28412069}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685599" "21" "90" "15" "78454036" "78454036" "del" "0" "00006" "IDH3A_000001" "g.78454036del" "" "{PMID:Pierrache 2017:28412069}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686133" "3" "90" "15" "78455849" "78455849" "subst" "0" "00006" "IDH3A_000013" "g.78455849G>A" "" "{PMID:Sun 2018:30058936}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686135" "3" "70" "15" "78453997" "78453997" "subst" "4.06095E-6" "00006" "IDH3A_000014" "g.78453997G>A" "" "{PMID:Peter 2019:31012789}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000686136" "3" "90" "15" "78458538" "78458538" "subst" "2.03057E-5" "00006" "IDH3A_000009" "g.78458538C>A" "" "{PMID:Fattal-Valevski 2017:28058510}" "" "911G>T (Pro304His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000691876" "0" "50" "15" "78454050" "78454050" "subst" "0.00463331" "01943" "IDH3A_000015" "g.78454050T>A" "" "" "" "IDH3A(NM_005530.3):c.417T>A (p.D139E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806935" "0" "50" "15" "78449915" "78449915" "subst" "4.07571E-6" "01943" "IDH3A_000016" "g.78449915G>T" "" "" "" "IDH3A(NM_005530.3):c.116G>T (p.G39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806936" "0" "30" "15" "78454044" "78454044" "subst" "0" "02330" "IDH3A_000017" "g.78454044C>T" "" "" "" "IDH3A(NM_005530.3):c.411C>T (p.Y137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854191" "0" "30" "15" "78458650" "78458650" "subst" "1.21842E-5" "01943" "ACSBG1_000009" "g.78458650A>G" "" "" "" "IDH3A(NM_005530.3):c.1017+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863973" "0" "30" "15" "78449964" "78449964" "subst" "0" "02330" "IDH3A_000018" "g.78449964T>C" "" "" "" "IDH3A(NM_005530.3):c.165T>C (p.D55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863974" "0" "30" "15" "78454050" "78454050" "subst" "0.00463331" "02330" "IDH3A_000015" "g.78454050T>A" "" "" "" "IDH3A(NM_005530.3):c.417T>A (p.D139E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892293" "0" "30" "15" "78447629" "78447631" "del" "0" "02330" "IDH3A_000019" "g.78447629_78447631del" "" "" "" "IDH3A(NM_005530.3):c.90+12_90+14delTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915793" "3" "50" "15" "78453997" "78453997" "subst" "4.06095E-6" "04436" "IDH3A_000014" "g.78453997G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.364G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000915982" "1" "50" "15" "78457387" "78457387" "subst" "0" "04436" "IDH3A_000020" "g.78457387T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.833T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000915983" "2" "50" "15" "78458616" "78458616" "subst" "8.1217E-5" "04436" "IDH3A_000021" "g.78458616C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.989C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000926044" "0" "30" "15" "78461324" "78461324" "subst" "0.00228908" "02330" "ACSBG1_000007" "g.78461324C>T" "" "" "" "IDH3A(NM_005530.3):c.1078C>T (p.R360C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967966" "0" "30" "15" "78441744" "78441744" "subst" "0.000456748" "02330" "IDH3A_000022" "g.78441744C>T" "" "" "" "IDH3A(NM_005530.3):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 IDH3A ## Count = 34 "{{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}}" "0000347784" "00009784" "50" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Met239Thr)" "" "0000555567" "00009784" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Val164=)" "" "0000555568" "00009784" "30" "865" "-9" "865" "-9" "c.865-9G>A" "r.(=)" "p.(=)" "" "0000555569" "00009784" "50" "910" "0" "910" "0" "c.910C>A" "r.(?)" "p.(Pro304Thr)" "" "0000555570" "00009784" "30" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Ala330=)" "" "0000555571" "00009784" "50" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "" "0000615546" "00009784" "30" "175" "-7" "175" "-7" "c.175-7C>T" "r.(=)" "p.(=)" "" "0000615547" "00009784" "10" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Ile267=)" "" "0000623305" "00009784" "50" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.(Ile156Thr)" "" "0000680299" "00009784" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Val68=)" "" "0000685247" "00009784" "90" "911" "0" "911" "0" "c.911C>A" "r.(?)" "p.(Pro304His)" "" "0000685248" "00009784" "90" "938" "0" "938" "0" "c.938T>C" "r.(?)" "p.(Met313Thr)" "" "0000685593" "00009784" "90" "911" "0" "911" "0" "c.911C>A" "r.(?)" "p.(Pro304His)" "" "0000685594" "00009784" "90" "938" "0" "938" "0" "c.938T>C" "r.(?)" "p.(Met313Thr)" "" "0000685595" "00009784" "90" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Met239Thr)" "" "0000685596" "00009784" "90" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ala175Val)" "" "0000685597" "00009784" "90" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Gly155*)" "" "0000685598" "00009784" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Cys)" "" "0000685599" "00009784" "90" "403" "0" "403" "0" "c.403del" "r.(?)" "p.(Thr135Profs*6)" "" "0000686133" "00009784" "90" "612" "0" "612" "0" "c.612G>A" "r.612g>a" "p.Met204Ile" "" "0000686135" "00009784" "70" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Ala122Thr)" "" "0000686136" "00009784" "90" "911" "0" "911" "0" "c.911C>A" "r.(?)" "p.(Pro304His)" "" "0000691876" "00009784" "50" "417" "0" "417" "0" "c.417T>A" "r.(?)" "p.(Asp139Glu)" "" "0000806935" "00009784" "50" "116" "0" "116" "0" "c.116G>T" "r.(?)" "p.(Gly39Val)" "" "0000806936" "00009784" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Tyr137=)" "" "0000854191" "00009784" "30" "1017" "6" "1017" "6" "c.1017+6A>G" "r.(=)" "p.(=)" "" "0000863973" "00009784" "30" "165" "0" "165" "0" "c.165T>C" "r.(?)" "p.(Asp55=)" "" "0000863974" "00009784" "30" "417" "0" "417" "0" "c.417T>A" "r.(?)" "p.(Asp139Glu)" "" "0000892293" "00009784" "30" "90" "12" "90" "14" "c.90+12_90+14del" "r.(=)" "p.(=)" "" "0000915793" "00009784" "50" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Ala122Thr)" "5" "0000915982" "00009784" "50" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Ile278Thr)" "10" "0000915983" "00009784" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Ala330Val)" "11" "0000926044" "00009784" "30" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "" "0000967966" "00009784" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000310336" "0000685247" "0000310336" "0000685594" "0000310337" "0000685248" "0000310337" "0000685593" "0000310666" "0000685595" "0000310666" "0000685599" "0000310667" "0000685596" "0000310668" "0000685597" "0000310668" "0000685598" "0000310985" "0000686133" "0000310986" "0000686135" "0000310987" "0000686136" "0000430904" "0000915793" "0000431040" "0000915982" "0000431040" "0000915983"