### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IDH3B) # 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}}" "IDH3B" "isocitrate dehydrogenase 3 (NAD+) beta" "20" "p13" "unknown" "NG_012149.1" "UD_134408589899" "" "https://www.LOVD.nl/IDH3B" "" "1" "5385" "3420" "604526" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IDH3B_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-11-25 18:41:32" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00009785" "IDH3B" "transcript variant 4" "003" "NM_001258384.1" "" "NP_001245313.1" "" "" "" "-31" "1369" "1131" "2644865" "2639661" "" "0000-00-00 00:00:00" "" "" "00025401" "IDH3B" "transcript variant 1" "002" "NM_006899.3" "" "NP_008830.2" "" "" "" "-31" "1514" "1158" "2644865" "2639041" "00008" "2019-05-03 20:45:11" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "03159" "RP46" "retinitis pigmentosa, type 46 (RP46)" "" "612572" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IDH3B" "03159" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00233521" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233522" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233523" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233524" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233525" "" "" "" "564" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233799" "" "" "" "419" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240442" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00325509" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3868" "00372626" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP295" "00372685" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP056" "00372695" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP319" "00372697" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP341" "00372728" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP340" "00382316" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "145" "00386188" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-299" "00388498" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13009597" "00409836" "" "" "" "1" "" "00000" "{PMID:Hartong 2008:18806796}" "Family 6897" "F" "yes" "" "" "0" "" "" "" "Family 6897_II:1" "00409837" "" "" "" "1" "" "00000" "{PMID:Hartong 2008:18806796}" "Family 6897" "M" "yes" "" "" "0" "" "" "" "Family 6897_II:2" "00409838" "" "" "" "1" "" "00000" "{PMID:Hartong 2008:18806796}" "Family E067" "F" "yes" "" "" "0" "" "" "" "Family E067_II:4" "00429630" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430096" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00447571" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-319" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00233521" "04214" "00233522" "04214" "00233523" "04214" "00233524" "04214" "00233525" "04214" "00233799" "04214" "00240442" "00381" "00299641" "04214" "00325509" "04214" "00372626" "04214" "00372685" "04214" "00372695" "04214" "00372697" "04214" "00372728" "04214" "00382316" "04214" "00386188" "04214" "00388498" "04214" "00409836" "04214" "00409837" "04214" "00409838" "04214" "00429630" "00112" "00430096" "00112" "00447571" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 03159, 04214 ## Count = 16 "{{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}}" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000243996" "04214" "00325509" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000267905" "04214" "00372626" "00000" "Familial, autosomal dominant" "34y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267964" "04214" "00372685" "00000" "Isolated (sporadic)" "34y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267974" "04214" "00372695" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267976" "04214" "00372697" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268007" "04214" "00372728" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000276165" "04214" "00382316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Unspecified syndrome" "" "0000279991" "04214" "00386188" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000282050" "04214" "00388498" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000301951" "04214" "00409836" "00000" "Familial, autosomal recessive" "" "" "" "" "" "substantial reduction of NAD-IDH activity, with about a 300-fold increase in the Km for NAD" "" "" "" "" "retinitis pigmentosa" "" "" "0000301952" "04214" "00409837" "00000" "Familial, autosomal recessive" "" "" "" "" "" "substantial reduction of NAD-IDH activity, with about a 300-fold increase in the Km for NAD" "" "" "" "" "retinitis pigmentosa" "" "" "0000301953" "04214" "00409838" "00000" "Familial, autosomal recessive" "" "" "" "" "" "substantial reduction of NAD-IDH activity, with about a 300-fold increase in the Km for NAD" "" "" "" "" "retinitis pigmentosa" "" "" "0000320502" "00112" "00429630" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320968" "00112" "00430096" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336770" "00198" "00447571" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000234620" "00233521" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234621" "00233522" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234622" "00233523" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234623" "00233524" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234624" "00233525" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234898" "00233799" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000241552" "00240442" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000326720" "00325509" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000373858" "00372626" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373917" "00372685" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373927" "00372695" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373929" "00372697" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373960" "00372728" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000383530" "00382316" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000387417" "00386188" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000397443" "00388498" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000411100" "00409836" "1" "00000" "03840" "2022-05-11 20:50:02" "" "" "SEQ" "DNA" "" "" "0000411101" "00409837" "1" "00000" "03840" "2022-05-11 20:50:02" "" "" "SEQ" "DNA" "" "" "0000411102" "00409838" "1" "00000" "03840" "2022-05-11 20:50:02" "" "" "SEQ" "DNA" "" "" "0000431043" "00429630" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431509" "00430096" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000449148" "00447571" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000234620" "IDH3B" "0000234621" "IDH3B" "0000234622" "IDH3B" "0000234623" "IDH3B" "0000234624" "IDH3B" "0000234898" "IDH3B" "0000241552" "IDH3B" "0000300751" "ARHGEF18" "0000326720" "IDH3B" "0000383530" "IDH3B" "0000387417" "C21orf2" "0000411100" "IDH3B" "0000411101" "IDH3B" "0000411102" "IDH3B" "0000431043" "IDH3B" "0000431509" "IDH3B" ## 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 = 56 "{{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}}" "0000247670" "0" "50" "20" "2641103" "2641103" "subst" "0" "02330" "IDH3B_000002" "g.2641103A>G" "" "" "" "IDH3B(NM_006899.5):c.665T>C (p.M222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2660457A>G" "" "VUS" "" "0000277810" "0" "10" "20" "2639410" "2639410" "subst" "3.65453E-5" "02330" "IDH3B_000001" "g.2639410G>C" "" "" "" "IDH3B(NM_006899.5):c.1145C>G (p.T382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2658764G>C" "" "benign" "" "0000277811" "0" "30" "20" "2644558" "2644558" "subst" "0.0027071" "02330" "IDH3B_000008" "g.2644558G>C" "" "" "" "IDH3B(NM_006899.5):c.117+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663912G>C" "" "likely benign" "" "0000277812" "0" "10" "20" "2644565" "2644565" "subst" "0.00373999" "02330" "IDH3B_000009" "g.2644565G>T" "" "" "" "IDH3B(NM_006899.5):c.117+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663919G>T" "" "benign" "" "0000277813" "0" "10" "20" "2644201" "2644201" "subst" "0" "02330" "IDH3B_000006" "g.2644201G>A" "" "" "" "IDH3B(NM_006899.5):c.228C>T (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663555G>A" "" "benign" "" "0000277814" "0" "10" "20" "2644177" "2644177" "subst" "0.000243675" "02330" "IDH3B_000005" "g.2644177G>A" "" "" "" "IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663531G>A" "" "benign" "" "0000281460" "0" "10" "20" "2644407" "2644407" "subst" "0.69042" "02325" "IDH3B_000007" "g.2644407C>G" "" "" "" "IDH3B(NM_006899.5):c.118-3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663761C>G" "" "benign" "" "0000289342" "0" "30" "20" "2641481" "2641481" "subst" "4.06121E-6" "01943" "IDH3B_000004" "g.2641481G>A" "" "" "" "IDH3B(NM_006899.4):c.399-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2660835G>A" "" "likely benign" "" "0000289343" "0" "30" "20" "2641132" "2641132" "subst" "0.00436117" "01943" "IDH3B_000003" "g.2641132C>T" "" "" "" "IDH3B(NM_006899.4):c.636G>A (p.K212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2660486C>T" "" "likely benign" "" "0000289344" "0" "30" "20" "2644606" "2644606" "subst" "4.06521E-6" "01943" "IDH3B_000010" "g.2644606T>C" "" "" "" "IDH3B(NM_006899.4):c.82A>G (p.T28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2663960T>C" "" "likely benign" "" "0000304253" "0" "50" "20" "2638848" "2638848" "subst" "1.7431E-5" "01943" "NOP56_000003" "g.2638848G>A" "" "" "" "NOP56(NM_006392.3):c.1693G>A (p.E565K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2658202G>A" "" "VUS" "" "0000304254" "0" "30" "20" "2636618" "2636618" "subst" "2.43948E-5" "01943" "NOP56_000002" "g.2636618C>G" "" "" "" "NOP56(NM_006392.3):c.948C>G (p.T316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2655972C>G" "" "likely benign" "" "0000477328" "0" "50" "20" "2639474" "2639474" "subst" "4.06246E-6" "02591" "IDH3B_000011" "g.2639474G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762623115" "0" "" "" "g.2658828G>C" "" "VUS" "" "0000477329" "0" "50" "20" "2639480" "2639480" "subst" "0" "02591" "IDH3B_000012" "g.2639480G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.2658834G>C" "" "VUS" "" "0000477330" "0" "50" "20" "2640355" "2640355" "subst" "7.72691E-5" "02591" "IDH3B_000013" "g.2640355G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs374613588" "0" "" "" "g.2659709G>A" "" "VUS" "" "0000477331" "3" "50" "20" "2640711" "2640711" "subst" "0" "02591" "IDH3B_000014" "g.2640711C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.2660065C>T" "" "VUS" "" "0000477332" "0" "10" "20" "2644407" "2644407" "subst" "0.69042" "02591" "IDH3B_000007" "g.2644407C>G" "564/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2073193" "0" "" "" "g.2663761C>G" "" "benign" "" "0000477606" "3" "10" "20" "2644407" "2644407" "subst" "0.69042" "02591" "IDH3B_000007" "g.2644407C>G" "419/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2073193" "0" "" "" "g.2663761C>G" "" "benign" "" "0000487562" "3" "70" "20" "2640734" "2640734" "subst" "2.84243E-5" "03335" "IDH3B_000015" "g.2640734C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2660088C>T" "" "likely pathogenic (recessive)" "" "0000569284" "0" "10" "20" "2640195" "2640195" "subst" "0.00170553" "02330" "IDH3B_000016" "g.2640195C>T" "" "" "" "IDH3B(NM_006899.5):c.1047G>A (p.V349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2659549C>T" "" "benign" "" "0000569285" "0" "50" "20" "2641221" "2641221" "del" "0" "02330" "IDH3B_000017" "g.2641221del" "" "" "" "IDH3B(NM_006899.5):c.547delA (p.I183Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2660575del" "" "VUS" "" "0000569286" "0" "30" "20" "2644357" "2644357" "subst" "0.000154326" "01943" "IDH3B_000018" "g.2644357C>T" "" "" "" "IDH3B(NM_006899.4):c.165G>A (p.P55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2663711C>T" "" "likely benign" "" "0000569287" "0" "50" "20" "2644652" "2644652" "subst" "2.85449E-5" "02330" "IDH3B_000019" "g.2644652C>T" "" "" "" "IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2664006C>T" "" "VUS" "" "0000569288" "0" "10" "20" "2644793" "2644793" "subst" "1.23843E-5" "02330" "IDH3B_000020" "g.2644793C>T" "" "" "" "IDH3B(NM_006899.5):c.36+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2664147C>T" "" "benign" "" "0000663583" "1" "50" "20" "2639107" "2639107" "subst" "4.06388E-5" "00006" "IDH3B_000021" "g.2639107G>A" "" "{PMID:Arno 2017:28132693}" "" "ENST00000380851.5:c.1133C>T (Ala378Val)" "heterozygous variant only" "Germline" "" "" "0" "" "" "g.2658461G>A" "" "VUS" "" "0000681576" "0" "70" "20" "2644637" "2644638" "ins" "0" "01943" "IDH3B_000022" "g.2644637_2644638insAA" "" "" "" "IDH3B(NM_006899.4):c.50_51insTT (p.G18Sfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692948" "0" "30" "20" "2640691" "2640691" "subst" "8.12242E-5" "01943" "IDH3B_000023" "g.2640691G>A" "" "" "" "IDH3B(NM_006899.4):c.900C>T (p.Y300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692949" "0" "50" "20" "2640761" "2640761" "subst" "4.06058E-5" "01943" "IDH3B_000024" "g.2640761A>G" "" "" "" "IDH3B(NM_006899.4):c.830T>C (p.I277T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692950" "0" "50" "20" "2640993" "2640993" "subst" "0" "01943" "IDH3B_000025" "g.2640993C>G" "" "" "" "IDH3B(NM_006899.4):c.684G>C (p.L228F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692951" "0" "90" "20" "2644652" "2644652" "subst" "2.85449E-5" "01943" "IDH3B_000019" "g.2644652C>T" "" "" "" "IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000710312" "3" "70" "20" "2640734" "2640734" "subst" "2.84243E-5" "00006" "IDH3B_000015" "g.2640734C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM1, PM2 ,PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.2660088C>T" "" "likely pathogenic" "ACMG" "0000727634" "0" "50" "20" "2640214" "2640214" "subst" "0" "01943" "IDH3B_000026" "g.2640214C>A" "" "" "" "IDH3B(NM_006899.4):c.1028G>T (p.S343I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000784273" "0" "70" "20" "2641159" "2641159" "subst" "0" "00000" "IDH3B_000028" "g.2641159G>C" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.2660513G>C" "" "likely pathogenic (recessive)" "" "0000784385" "0" "70" "20" "2640239" "2640239" "subst" "1.62433E-5" "00000" "IDH3B_000027" "g.2640239T>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.2659593T>A" "" "likely pathogenic (recessive)" "" "0000784404" "0" "70" "20" "2641159" "2641159" "subst" "0" "00000" "IDH3B_000028" "g.2641159G>C" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.2660513G>C" "" "likely pathogenic (recessive)" "" "0000784424" "0" "50" "20" "2644572" "2644572" "subst" "2.43867E-5" "00000" "IDH3B_000029" "g.2644572T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.2663926T>C" "" "VUS" "" "0000784523" "0" "50" "20" "2644648" "2644648" "subst" "0" "00000" "IDH3B_000030" "g.2644648G>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.2664002G>T" "" "VUS" "" "0000797682" "3" "70" "20" "2644631" "2644631" "del" "0" "00000" "IDH3B_000031" "g.2644631del" "" "{PMID:Jespersgaar 2019:30718709}" "" "IDH3B c.59del, p.(Pro20Leufs*7), c.59del, p.(Pro20Leufs*7)" "homozygous" "Germline" "?" "" "0" "" "" "g.2663985del" "" "likely pathogenic" "ACMG" "0000809188" "0" "50" "20" "2639418" "2639418" "subst" "0" "01943" "IDH3B_000032" "g.2639418G>C" "" "" "" "IDH3B(NM_006899.4):c.1137C>G (p.H379Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809189" "0" "30" "20" "2644177" "2644177" "subst" "0.000243675" "01943" "IDH3B_000005" "g.2644177G>A" "" "" "" "IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815584" "0" "50" "20" "2641236" "2641236" "subst" "0" "00000" "IDH3B_000033" "g.2641236T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IDH3B:NM_001258384 c.A532G, p.S178G" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.2660590T>C" "" "VUS" "ACMG" "0000829417" "0" "50" "20" "2639084" "10394167" "del" "0" "00000" "MKKS_000000" "g.(?_2639084)_(10394167_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr20:2639084-10394167" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000855783" "0" "30" "20" "2639088" "2639088" "subst" "0" "01943" "IDH3B_000034" "g.2639088C>T" "" "" "" "IDH3B(NM_174855.3):c.1152G>A (p.*384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855784" "0" "30" "20" "2644614" "2644614" "subst" "0.000621951" "02330" "IDH3B_000038" "g.2644614C>T" "" "" "" "IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866403" "0" "30" "20" "2640216" "2640216" "subst" "5.27897E-5" "01943" "IDH3B_000035" "g.2640216G>A" "" "" "" "IDH3B(NM_006899.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866404" "0" "30" "20" "2644614" "2644614" "subst" "0.000621951" "01943" "IDH3B_000038" "g.2644614C>T" "" "" "" "IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868126" "3" "90" "20" "2641179" "2641179" "del" "0" "00000" "IDH3B_000036" "g.2641179del" "" "{PMID:Hartong 2008:18806796}" "" "IDH3B 589delA, p.I197fs" "different transcript, NM_006899.4(IDH3B):c.589del, p.(Ile197Leufs*26) = homozygous" "Germline" "yes" "" "0" "" "" "g.2660533del" "" "pathogenic" "" "0000868127" "3" "90" "20" "2641179" "2641179" "del" "0" "00000" "IDH3B_000036" "g.2641179del" "" "{PMID:Hartong 2008:18806796}" "" "IDH3B 589delA, p.I197fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.2660533del" "" "pathogenic" "" "0000868128" "3" "90" "20" "2641558" "2641558" "subst" "4.06227E-6" "00000" "IDH3B_000037" "g.2641558A>G" "" "{PMID:Hartong 2008:18806796}" "" "IDH3B c.395T>C, p.L132P; p.L98P in mature protein" "homozygous" "Germline" "yes" "" "0" "" "" "g.2660912A>G" "" "pathogenic" "" "0000895248" "0" "30" "20" "2635390" "2635392" "del" "0" "02326" "IDH3B_000039" "g.2635390_2635392del" "" "" "" "NOP56(NM_006392.4):c.371-5_371-3delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895249" "0" "30" "20" "2637427" "2637427" "subst" "0.00184358" "02326" "IDH3B_000040" "g.2637427C>T" "" "" "" "NOP56(NM_006392.4):c.1167C>T (p.P389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895250" "0" "30" "20" "2638730" "2638730" "subst" "0.000463607" "02326" "IDH3B_000041" "g.2638730C>T" "" "" "" "NOP56(NM_006392.4):c.1575C>T (p.T525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915986" "3" "50" "20" "2641167" "2641167" "subst" "0" "04436" "IDH3B_000042" "g.2641167C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.601G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916699" "3" "70" "20" "2644338" "2644338" "subst" "1.62446E-5" "04436" "IDH3B_000043" "g.2644338C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.184G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000959355" "0" "70" "20" "2641197" "2641197" "subst" "2.03085E-5" "00006" "IDH3B_000044" "g.2641197G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.2660551G>A" "" "likely pathogenic (recessive)" "ACMG" "0001043293" "0" "30" "20" "2636036" "2636036" "subst" "0.000479149" "01804" "IDH3B_000045" "g.2636036G>A" "" "" "" "NOP56(NM_006392.4):c.635G>A (p.(Arg212His))" "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 IDH3B ## Count = 100 "{{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}}" "0000247670" "00009785" "50" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Met222Thr)" "" "0000247670" "00025401" "50" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Met222Thr)" "" "0000277810" "00009785" "10" "1620" "0" "1620" "0" "c.*489C>G" "r.(=)" "p.(=)" "" "0000277810" "00025401" "10" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Thr382Ser)" "" "0000277811" "00009785" "30" "117" "13" "117" "13" "c.117+13C>G" "r.(=)" "p.(=)" "" "0000277811" "00025401" "30" "117" "13" "117" "13" "c.117+13C>G" "r.(=)" "p.(=)" "" "0000277812" "00009785" "10" "117" "6" "117" "6" "c.117+6C>A" "r.(=)" "p.(=)" "" "0000277812" "00025401" "10" "117" "6" "117" "6" "c.117+6C>A" "r.(=)" "p.(=)" "" "0000277813" "00009785" "10" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Val76=)" "" "0000277813" "00025401" "10" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Val76=)" "" "0000277814" "00009785" "10" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(His84=)" "" "0000277814" "00025401" "10" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(His84=)" "" "0000281460" "00009785" "10" "118" "-3" "118" "-3" "c.118-3G>C" "r.spl?" "p.?" "" "0000281460" "00025401" "10" "118" "-3" "118" "-3" "c.118-3G>C" "r.spl?" "p.?" "" "0000289342" "00009785" "30" "399" "-6" "399" "-6" "c.399-6C>T" "r.(=)" "p.(=)" "" "0000289342" "00025401" "30" "399" "-6" "399" "-6" "c.399-6C>T" "r.(=)" "p.(=)" "" "0000289343" "00009785" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Lys212=)" "" "0000289343" "00025401" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Lys212=)" "" "0000289344" "00009785" "30" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Thr28Ala)" "" "0000289344" "00025401" "30" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Thr28Ala)" "" "0000304253" "00009785" "50" "2182" "0" "2182" "0" "c.*1051C>T" "r.(=)" "p.(=)" "" "0000304253" "00025401" "50" "1707" "0" "1707" "0" "c.*549C>T" "r.(=)" "p.(=)" "" "0000304254" "00009785" "30" "4412" "0" "4412" "0" "c.*3281G>C" "r.(=)" "p.(=)" "" "0000304254" "00025401" "30" "3937" "0" "3937" "0" "c.*2779G>C" "r.(=)" "p.(=)" "" "0000477328" "00009785" "50" "1556" "0" "1556" "0" "c.*425C>G" "r.(=)" "p.(=)" "" "0000477328" "00025401" "50" "1081" "0" "1081" "0" "c.1081C>G" "r.(?)" "p.(Arg361Gly)" "" "0000477329" "00009785" "50" "1550" "0" "1550" "0" "c.*419C>G" "r.(=)" "p.(=)" "" "0000477329" "00025401" "50" "1075" "0" "1075" "0" "c.1075C>G" "r.(?)" "p.(Arg359Gly)" "" "0000477330" "00009785" "50" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Trp)" "" "0000477330" "00025401" "50" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Trp)" "" "0000477331" "00009785" "50" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Glu294Lys)" "" "0000477331" "00025401" "50" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Glu294Lys)" "" "0000477332" "00009785" "10" "118" "-3" "118" "-3" "c.118-3G>C" "r.spl?" "p.?" "" "0000477332" "00025401" "10" "118" "-3" "118" "-3" "c.118-3G>C" "r.spl?" "p.?" "" "0000477606" "00009785" "10" "118" "-3" "118" "-3" "c.118-3G>C" "r.spl?" "p.?" "" "0000477606" "00025401" "10" "118" "-3" "118" "-3" "c.118-3G>C" "r.spl?" "p.?" "" "0000487562" "00025401" "70" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Gly286Glu)" "9" "0000569284" "00009785" "10" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Val349=)" "" "0000569284" "00025401" "10" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Val349=)" "" "0000569285" "00009785" "50" "547" "0" "547" "0" "c.547del" "r.(?)" "p.(Ile183LeufsTer4)" "" "0000569285" "00025401" "50" "547" "0" "547" "0" "c.547del" "r.(?)" "p.(Ile183LeufsTer4)" "" "0000569286" "00009785" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Pro55=)" "" "0000569286" "00025401" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Pro55=)" "" "0000569287" "00009785" "50" "37" "-1" "37" "-1" "c.37-1G>A" "r.spl?" "p.?" "" "0000569287" "00025401" "50" "37" "-1" "37" "-1" "c.37-1G>A" "r.spl?" "p.?" "" "0000569288" "00009785" "10" "36" "6" "36" "6" "c.36+6G>A" "r.(=)" "p.(=)" "" "0000569288" "00025401" "10" "36" "6" "36" "6" "c.36+6G>A" "r.(=)" "p.(=)" "" "0000663583" "00009785" "50" "1923" "0" "1923" "0" "c.*792C>T" "r.(=)" "p.(=)" "" "0000663583" "00025401" "50" "1448" "0" "1448" "0" "c.*290C>T" "r.(?)" "p.(=)" "" "0000681576" "00009785" "70" "50" "0" "51" "0" "c.50_51insTT" "r.(?)" "p.(Gly18SerfsTer10)" "" "0000681576" "00025401" "70" "50" "0" "51" "0" "c.50_51insTT" "r.(?)" "p.(Gly18SerfsTer10)" "" "0000692948" "00009785" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Tyr300=)" "" "0000692948" "00025401" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Tyr300=)" "" "0000692949" "00009785" "50" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Ile277Thr)" "" "0000692949" "00025401" "50" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Ile277Thr)" "" "0000692950" "00009785" "50" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Leu228Phe)" "" "0000692950" "00025401" "50" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Leu228Phe)" "" "0000692951" "00009785" "90" "37" "-1" "37" "-1" "c.37-1G>A" "r.spl?" "p.?" "" "0000692951" "00025401" "90" "37" "-1" "37" "-1" "c.37-1G>A" "r.spl?" "p.?" "" "0000710312" "00009785" "70" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Gly286Glu)" "" "0000727634" "00009785" "50" "1028" "0" "1028" "0" "c.1028G>T" "r.(?)" "p.(Ser343Ile)" "" "0000727634" "00025401" "50" "1028" "0" "1028" "0" "c.1028G>T" "r.(?)" "p.(Ser343Ile)" "" "0000784273" "00009785" "70" "609" "0" "609" "0" "c.609C>G" "r.(?)" "p.(Asp203Glu)" "" "0000784385" "00009785" "70" "1011" "-8" "1011" "-8" "c.1011-8A>T" "r.spl" "p.?" "" "0000784404" "00009785" "70" "609" "0" "609" "0" "c.609C>G" "r.(?)" "p.(Asp203Glu)" "" "0000784424" "00009785" "50" "116" "0" "116" "0" "c.116A>G" "r.(?)" "p.(Gln39Arg)" "" "0000784523" "00009785" "50" "40" "0" "40" "0" "c.40C>A" "r.(?)" "p.(Leu14Met)" "" "0000797682" "00009785" "70" "59" "0" "59" "0" "c.59del" "r.(?)" "p.(Pro20Leufs*7)" "" "0000809188" "00009785" "50" "1612" "0" "1612" "0" "c.*481C>G" "r.(=)" "p.(=)" "" "0000809188" "00025401" "50" "1137" "0" "1137" "0" "c.1137C>G" "r.(?)" "p.(His379Gln)" "" "0000809189" "00009785" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(His84=)" "" "0000809189" "00025401" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(His84=)" "" "0000815584" "00009785" "50" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ser178Gly)" "" "0000815584" "00025401" "50" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ser178Gly)" "" "0000829417" "00025401" "50" "0" "0" "0" "0" "c.-31_*356{0}" "r.0" "p.0" "_1_12_" "0000855783" "00009785" "30" "1942" "0" "1942" "0" "c.*811G>A" "r.(=)" "p.(=)" "" "0000855783" "00025401" "30" "1467" "0" "1467" "0" "c.*309G>A" "r.(=)" "p.(=)" "" "0000855784" "00009785" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "0000855784" "00025401" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "0000866403" "00009785" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000866403" "00025401" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000866404" "00009785" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "0000866404" "00025401" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "0000868126" "00009785" "90" "" "0" "" "0" "589delA" "r.(?)" "p.(Ile197Leufs*26)" "" "0000868126" "00025401" "90" "589" "0" "589" "0" "c.589del" "r.(?)" "p.(Ile197Leufs*26)" "" "0000868127" "00009785" "90" "" "0" "" "0" "589delA" "r.(?)" "p.(Ile197Leufs*26)" "" "0000868127" "00025401" "90" "589" "0" "589" "0" "c.589del" "r.(?)" "p.(Ile197Leufs*26)" "" "0000868128" "00009785" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000868128" "00025401" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000895248" "00009785" "30" "5642" "0" "5644" "0" "c.*4511_*4513del" "r.(=)" "p.(=)" "" "0000895248" "00025401" "30" "5167" "0" "5169" "0" "c.*4009_*4011del" "r.(=)" "p.(=)" "" "0000895249" "00009785" "30" "3603" "0" "3603" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000895249" "00025401" "30" "3128" "0" "3128" "0" "c.*1970G>A" "r.(=)" "p.(=)" "" "0000895250" "00009785" "30" "2300" "0" "2300" "0" "c.*1169G>A" "r.(=)" "p.(=)" "" "0000895250" "00025401" "30" "1825" "0" "1825" "0" "c.*667G>A" "r.(=)" "p.(=)" "" "0000915986" "00009785" "50" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Ala201Pro)" "7" "0000916699" "00009785" "70" "184" "0" "184" "0" "c.184G>T" "r.(?)" "p.(Glu62*)" "3" "0000959355" "00025401" "70" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Ter)" "" "0001043293" "00009785" "30" "4994" "0" "4994" "0" "c.*3863C>T" "r.(=)" "p.(=)" "" "0001043293" "00025401" "30" "4519" "0" "4519" "0" "c.*3361C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000234620" "0000477328" "0000234621" "0000477329" "0000234622" "0000477330" "0000234623" "0000477331" "0000234624" "0000477332" "0000234898" "0000477606" "0000241552" "0000487562" "0000300751" "0000663583" "0000326720" "0000710312" "0000373858" "0000784385" "0000373917" "0000784424" "0000373927" "0000784523" "0000373929" "0000784404" "0000373960" "0000784273" "0000383530" "0000797682" "0000387417" "0000815584" "0000397443" "0000829417" "0000411100" "0000868126" "0000411101" "0000868127" "0000411102" "0000868128" "0000431043" "0000915986" "0000431509" "0000916699" "0000449148" "0000959355"