### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IDH3G) # 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}}" "IDH3G" "isocitrate dehydrogenase 3 (NAD+) gamma" "X" "q28" "unknown" "NC_000023.10" "UD_134752097193" "" "https://www.LOVD.nl/IDH3G" "" "1" "5386" "3421" "300089" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-06-27 17:20:34" "00000" "2026-01-20 18:57:21" ## 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}}" "00009786" "IDH3G" "transcript variant 1" "001" "NM_004135.3" "" "NP_004126.1" "" "" "" "-197" "1288" "1182" "153059978" "153051221" "" "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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "07267" "RP99" "retinitis pigmentosa, type 99" "XLR" "301148" "" "" "" "00006" "2026-06-27 17:21:17" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IDH3G" "00112" "IDH3G" "07267" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00183137" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00187, 07267 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "mental retardation" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000184095" "MECP2" ## 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 = 40 "{{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}}" "0000289345" "0" "50" "X" "153052559" "153052559" "subst" "1.12075E-5" "01943" "IDH3G_000003" "g.153052559G>A" "" "" "" "IDH3G(NM_174869.2):c.724C>T (p.R242C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153787104G>A" "" "VUS" "" "0000315741" "0" "50" "X" "153050856" "153050856" "subst" "0.000106838" "01943" "SRPK3_000011" "g.153050856G>A" "" "" "" "SRPK3(NM_014370.3):c.1585G>A (p.E529K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153785401G>A" "" "VUS" "" "0000315742" "0" "50" "X" "153047663" "153047663" "subst" "0" "01943" "SRPK3_000010" "g.153047663C>T" "" "" "" "SRPK3(NM_014370.3):c.475C>T (p.H159Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153782208C>T" "" "VUS" "" "0000315754" "0" "30" "X" "153060205" "153060205" "subst" "6.88638E-5" "01943" "SSR4_000010" "g.153060205C>T" "" "" "" "SSR4(NM_001204527.1):c.87C>T (p.C29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153794750C>T" "" "likely benign" "" "0000336077" "0" "30" "X" "153047239" "153047239" "subst" "0.00150301" "01804" "SRPK3_000009" "g.153047239G>A" "" "" "" "SRPK3(NM_001170760.1):c.341G>A (p.(Gly114Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153781784G>A" "" "likely benign" "" "0000336078" "0" "50" "X" "153051413" "153051413" "subst" "2.24347E-5" "01804" "IDH3G_000001" "g.153051413T>C" "" "" "" "IDH3G(NM_004135.3):c.1096A>G (p.(Ile366Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153785958T>C" "" "VUS" "" "0000336079" "0" "50" "X" "153052407" "153052407" "subst" "0.0012232" "01804" "IDH3G_000002" "g.153052407G>A" "" "" "" "IDH3G(NM_004135.3):c.778-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153786952G>A" "" "VUS" "" "0000336084" "0" "50" "X" "153068927" "153068927" "subst" "0" "01804" "PDZD4_000014" "g.153068927T>G" "" "" "" "PDZD4(NM_032512.2):c.2191A>C (p.(Lys731Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153803472T>G" "" "VUS" "" "0000342889" "0" "50" "X" "153050245" "153050245" "subst" "0" "02327" "SRPK3_000012" "g.153050245G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153784790G>A" "" "VUS" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574368" "0" "50" "X" "153047285" "153047285" "subst" "1.12775E-5" "01943" "SRPK3_000015" "g.153047285T>G" "" "" "" "SRPK3(NM_014370.3):c.387T>G (p.C129W, p.(Cys129Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153781830T>G" "" "VUS" "" "0000574370" "0" "50" "X" "153051392" "153051392" "subst" "0" "01943" "SRPK3_000017" "g.153051392A>G" "" "" "" "IDH3G(NM_004135.4):c.1117T>C (p.S373P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153785937A>G" "" "VUS" "" "0000574372" "0" "50" "X" "153053358" "153053358" "subst" "5.59591E-6" "01943" "SRPK3_000019" "g.153053358C>T" "" "" "" "IDH3G(NM_174869.2):c.460G>A (p.V154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153787903C>T" "" "VUS" "" "0000574373" "0" "30" "X" "153055671" "153055671" "subst" "0" "01804" "SRPK3_000020" "g.153055671A>C" "" "" "" "IDH3G(NM_004135.3):c.212T>G (p.(Leu71Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153790216A>C" "" "likely benign" "" "0000574377" "0" "70" "X" "153063536" "153063545" "del" "0" "01804" "SSR4_000019" "g.153063536_153063545del" "" "" "" "SSR4(NM_001204526.1):c.390_399del (p.(Asn132ThrfsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153798081_153798090del" "" "likely pathogenic" "" "0000619183" "0" "50" "X" "153047073" "153047073" "subst" "0" "02327" "SRPK3_000021" "g.153047073G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153781618G>C" "" "VUS" "" "0000619184" "0" "30" "X" "153060187" "153060187" "subst" "0" "01943" "SSR4_000020" "g.153060187G>C" "" "" "" "SSR4(NM_001204527.1):c.69G>C (p.L23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153794732G>C" "" "likely benign" "" "0000619185" "0" "30" "X" "153061941" "153061941" "subst" "0.000542906" "01943" "SSR4_000021" "g.153061941C>T" "" "" "" "SSR4(NM_001204527.1):c.144C>T (p.D48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153796486C>T" "" "likely benign" "" "0000624490" "0" "50" "X" "153047248" "153047248" "subst" "1.12187E-5" "01943" "SRPK3_000022" "g.153047248C>T" "" "" "" "SRPK3(NM_014370.3):c.350C>T (p.T117M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153781793C>T" "" "VUS" "" "0000682217" "0" "30" "X" "153046761" "153046761" "subst" "4.11985E-5" "01943" "SRPK3_000026" "g.153046761C>T" "" "" "" "SRPK3(NM_014370.3):c.150C>T (p.S50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682218" "0" "50" "X" "153046972" "153046972" "subst" "0" "01943" "SRPK3_000027" "g.153046972C>T" "" "" "" "SRPK3(NM_014370.3):c.203C>T (p.P68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682219" "0" "30" "X" "153051703" "153051703" "subst" "1.16511E-5" "01943" "SRPK3_000028" "g.153051703G>A" "" "" "" "IDH3G(NM_174869.2):c.1044C>T (p.I348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728574" "0" "30" "X" "153052277" "153052277" "subst" "4.51309E-5" "01943" "SRPK3_000029" "g.153052277A>G" "" "" "" "IDH3G(NM_174869.2):c.903T>C (p.H301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728575" "0" "30" "X" "153063860" "153063860" "subst" "0" "01943" "SSR4_000023" "g.153063860T>A" "" "" "" "SSR4(NM_001204527.1):c.518T>A (p.F173Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810065" "0" "50" "X" "153049344" "153049344" "subst" "0" "02327" "SRPK3_000031" "g.153049344G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810066" "0" "50" "X" "153050568" "153050568" "subst" "0" "01943" "SRPK3_000032" "g.153050568G>A" "" "" "" "SRPK3(NM_014370.3):c.1459G>A (p.D487N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810067" "0" "30" "X" "153052343" "153052343" "subst" "6.72043E-5" "01943" "SRPK3_000033" "g.153052343G>A" "" "" "" "IDH3G(NM_174869.2):c.837C>T (p.I279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810068" "0" "50" "X" "153060138" "153060146" "dup" "0" "01943" "SSR4_000024" "g.153060138_153060146dup" "" "" "" "SSR4(NM_001204527.1):c.20_28dupAGGCGATGG (p.E7_M9dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810069" "0" "30" "X" "153061983" "153061983" "subst" "0" "01943" "SSR4_000025" "g.153061983C>T" "" "" "" "SSR4(NM_001204527.1):c.186C>T (p.S62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856422" "0" "30" "X" "153050888" "153050888" "subst" "0.000331397" "01943" "SRPK3_000034" "g.153050888C>T" "" "" "" "SRPK3(NM_014370.3):c.1617C>T (p.S539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867175" "0" "50" "X" "153051877" "153051877" "subst" "0" "01804" "SRPK3_000035" "g.153051877C>T" "" "" "" "IDH3G(NM_004135.3):c.952G>A (p.(Ala318Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867176" "0" "30" "X" "153061923" "153061923" "subst" "1.67978E-5" "01943" "SSR4_000026" "g.153061923C>T" "" "" "" "SSR4(NM_001204527.1):c.126C>T (p.S42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895985" "0" "30" "X" "153063508" "153063508" "subst" "0.000134677" "02325" "SSR4_000027" "g.153063508C>T" "" "" "" "SSR4(NM_001204526.1):c.385-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895986" "0" "50" "X" "153063890" "153063890" "subst" "3.23379E-5" "02325" "SSR4_000028" "g.153063890G>A" "" "" "" "SSR4(NM_001204526.1):c.*2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951703" "0" "30" "X" "153062018" "153062018" "subst" "0.000231162" "02325" "SSR4_000029" "g.153062018G>C" "" "" "" "SSR4(NM_001204526.1):c.219+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984536" "0" "30" "X" "153056297" "153056297" "subst" "5.64723E-6" "01804" "SSR4_000030" "g.153056297C>T" "" "" "" "IDH3G(NM_004135.4):c.91G>A (p.(Ala31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006530" "0" "50" "X" "153047285" "153047285" "subst" "1.12775E-5" "01804" "SRPK3_000015" "g.153047285T>G" "" "" "" "SRPK3(NM_014370.3):c.387T>G (p.C129W, p.(Cys129Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006531" "0" "30" "X" "153049576" "153049576" "subst" "0" "01804" "SRPK3_000041" "g.153049576G>C" "" "" "" "SRPK3(NM_014370.3):c.1055G>C (p.(Gly352Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006532" "0" "30" "X" "153050543" "153050543" "subst" "0" "01804" "SRPK3_000042" "g.153050543C>G" "" "" "" "SRPK3(NM_014370.3):c.1434C>G (p.(Ile478Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006533" "0" "50" "X" "153051838" "153051838" "subst" "0" "01804" "SRPK3_000043" "g.153051838C>T" "" "" "" "IDH3G(NM_004135.3):c.991G>A (p.(Ala331Thr))" "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 IDH3G ## Count = 40 "{{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}}" "0000289345" "00009786" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "0000315741" "00009786" "50" "1653" "0" "1653" "0" "c.*471C>T" "r.(=)" "p.(=)" "" "0000315742" "00009786" "50" "4846" "0" "4846" "0" "c.*3664G>A" "r.(=)" "p.(=)" "" "0000315754" "00009786" "30" "-424" "0" "-424" "0" "c.-424G>A" "r.(?)" "p.(=)" "" "0000336077" "00009786" "30" "5270" "0" "5270" "0" "c.*4088C>T" "r.(=)" "p.(=)" "" "0000336078" "00009786" "50" "1096" "0" "1096" "0" "c.1096A>G" "r.(?)" "p.(Ile366Val)" "" "0000336079" "00009786" "50" "778" "-5" "778" "-5" "c.778-5C>T" "r.spl?" "p.?" "" "0000336084" "00009786" "50" "-9146" "0" "-9146" "0" "c.-9146A>C" "r.(?)" "p.(=)" "" "0000342889" "00009786" "50" "2264" "0" "2264" "0" "c.*1082C>T" "r.(=)" "p.(=)" "" "0000408064" "00009786" "00" "-550125" "0" "341703" "0" "c.-550125_*340521dup" "r.0?" "p.0?" "" "0000574368" "00009786" "50" "5224" "0" "5224" "0" "c.*4042A>C" "r.(=)" "p.(=)" "" "0000574370" "00009786" "50" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Ser373Pro)" "" "0000574372" "00009786" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Met)" "" "0000574373" "00009786" "30" "212" "0" "212" "0" "c.212T>G" "r.(?)" "p.(Leu71Arg)" "" "0000574377" "00009786" "70" "-3759" "0" "-3750" "0" "c.-3759_-3750del" "r.(?)" "p.(=)" "" "0000619183" "00009786" "50" "5436" "0" "5436" "0" "c.*4254C>G" "r.(=)" "p.(=)" "" "0000619184" "00009786" "30" "-406" "0" "-406" "0" "c.-406C>G" "r.(?)" "p.(=)" "" "0000619185" "00009786" "30" "-2160" "0" "-2160" "0" "c.-2160G>A" "r.(?)" "p.(=)" "" "0000624490" "00009786" "50" "5261" "0" "5261" "0" "c.*4079G>A" "r.(=)" "p.(=)" "" "0000682217" "00009786" "30" "5748" "0" "5748" "0" "c.*4566G>A" "r.(=)" "p.(=)" "" "0000682218" "00009786" "50" "5537" "0" "5537" "0" "c.*4355G>A" "r.(=)" "p.(=)" "" "0000682219" "00009786" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Ile348=)" "" "0000728574" "00009786" "30" "903" "0" "903" "0" "c.903T>C" "r.(?)" "p.(His301=)" "" "0000728575" "00009786" "30" "-4079" "0" "-4079" "0" "c.-4079A>T" "r.(?)" "p.(=)" "" "0000810065" "00009786" "50" "3165" "0" "3165" "0" "c.*1983C>G" "r.(=)" "p.(=)" "" "0000810066" "00009786" "50" "1941" "0" "1941" "0" "c.*759C>T" "r.(=)" "p.(=)" "" "0000810067" "00009786" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Ile279=)" "" "0000810068" "00009786" "50" "-364" "0" "-356" "0" "c.-364_-356dup" "r.(?)" "p.(=)" "" "0000810069" "00009786" "30" "-2202" "0" "-2202" "0" "c.-2202G>A" "r.(?)" "p.(=)" "" "0000856422" "00009786" "30" "1621" "0" "1621" "0" "c.*439G>A" "r.(=)" "p.(=)" "" "0000867175" "00009786" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Ala318Thr)" "" "0000867176" "00009786" "30" "-2142" "0" "-2142" "0" "c.-2142G>A" "r.(?)" "p.(=)" "" "0000895985" "00009786" "30" "-3727" "0" "-3727" "0" "c.-3727G>A" "r.(?)" "p.(=)" "" "0000895986" "00009786" "50" "-4109" "0" "-4109" "0" "c.-4109C>T" "r.(?)" "p.(=)" "" "0000951703" "00009786" "30" "-2237" "0" "-2237" "0" "c.-2237C>G" "r.(?)" "p.(=)" "" "0000984536" "00009786" "30" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0001006530" "00009786" "50" "5224" "0" "5224" "0" "c.*4042A>C" "r.(=)" "p.(=)" "" "0001006531" "00009786" "30" "2933" "0" "2933" "0" "c.*1751C>G" "r.(=)" "p.(=)" "" "0001006532" "00009786" "30" "1966" "0" "1966" "0" "c.*784G>C" "r.(=)" "p.(=)" "" "0001006533" "00009786" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Ala331Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000184095" "0000408064"