### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MMAA) # 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}}" "MMAA" "methylmalonic aciduria (cobalamin deficiency) cblA type" "4" "q31.1" "unknown" "NC_000004.11" "UD_132118219529" "" "http://www.LOVD.nl/MMAA" "" "1" "18871" "166785" "607481" "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" "2025-03-24 14:13:50" "00006" "2025-03-24 14:17:12" ## 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}}" "00013701" "MMAA" "methylmalonic aciduria (cobalamin deficiency) cblA type" "001" "NM_172250.2" "" "NP_758454.1" "" "" "" "-85" "5858" "1257" "146540540" "146581187" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01919" "aciduria" "aciduria, methylmalonic , mut(0) type" "AR" "251000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-27 13:25:58" "01920" "MACA" "aciduria, methylmalonic, cblA type" "AR" "251100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-03-24 14:14:51" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MMAA" "00139" "MMAA" "01920" ## 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}}" "00080797" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00293547" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293548" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293549" "" "" "" "88" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304983" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00464293" "" "" "" "1" "" "04409" "" "" "M" "no" "China" "" "" "" "" "Chinese" "R044" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00080797" "01920" "00293547" "00198" "00293548" "00198" "00293549" "00198" "00304983" "00198" "00464293" "01919" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01919, 01920 ## Count = 2 "{{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}}" "0000060366" "01920" "00080797" "01758" "Familial, autosomal recessive" "" "Methylmalonic aciduria, vitamin B12-responsive (OMIM:251100)" "" "" "" "" "" "" "" "" "" "" "" "0000350369" "01919" "00464293" "04409" "Familial, autosomal recessive" "01y" "Methylmalonic acidemia" "" "" "" "Xinhua Hospital" "" "" "" "" "Methylmalonic acidemia" "Methylmalonic acidemia" "" ## 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}}" "0000080909" "00080797" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000294715" "00293547" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294716" "00293548" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294717" "00293549" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306112" "00304983" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000465937" "00464293" "1" "04409" "04409" "2025-03-03 01:48:50" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000080909" "MMAA" "0000465937" "MMAA" ## 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 = 32 "{{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}}" "0000129985" "11" "90" "4" "146567168" "146567171" "del" "0" "01758" "MMAA_000002" "g.146567168_146567171del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.145646016_145646019del" "" "pathogenic" "ACMG" "0000129986" "21" "70" "4" "146567226" "146567226" "dup" "0" "01758" "MMAA_000001" "g.146567226dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.145646074dup" "" "likely pathogenic" "ACMG" "0000249807" "0" "50" "4" "146576449" "146576449" "subst" "0" "02325" "MMAA_000008" "g.146576449A>G" "" "" "" "MMAA(NM_172250.3):c.1120A>G (p.S374G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145655297A>G" "" "VUS" "" "0000279837" "0" "10" "4" "146576418" "146576418" "subst" "0.0643487" "02330" "MMAA_000007" "g.146576418G>C" "" "" "" "MMAA(NM_172250.3):c.1089G>C (p.Q363H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145655266G>C" "" "benign" "" "0000279838" "0" "90" "4" "146567161" "146567161" "subst" "8.12539E-6" "02330" "MMAA_000004" "g.146567161C>T" "" "" "" "MMAA(NM_172250.3):c.586C>T (p.R196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145646009C>T" "" "pathogenic" "" "0000286615" "0" "90" "4" "146560724" "146560724" "subst" "0.000135584" "02326" "MMAA_000003" "g.146560724C>T" "" "" "" "MMAA(NM_001375644.1):c.433C>T (p.R145*), MMAA(NM_172250.3):c.433C>T (p.R145*, p.(Arg145Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145639572C>T" "" "pathogenic" "" "0000286616" "0" "90" "4" "146572222" "146572222" "subst" "8.12242E-6" "02326" "MMAA_000005" "g.146572222C>T" "" "" "" "MMAA(NM_172250.3):c.742C>T (p.Q248*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145651070C>T" "" "pathogenic" "" "0000330142" "0" "50" "4" "146576408" "146576408" "subst" "7.71574E-5" "01804" "MMAA_000006" "g.146576408G>A" "" "" "" "MMAA(NM_172250.2):c.1079G>A (p.(Arg360Gln)), MMAA(NM_172250.3):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145655256G>A" "" "VUS" "" "0000330143" "0" "50" "4" "146576515" "146576515" "subst" "8.12348E-6" "01804" "MMAA_000009" "g.146576515G>T" "" "" "" "MMAA(NM_172250.2):c.1186G>T (p.(Val396Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145655363G>T" "" "VUS" "" "0000341936" "0" "90" "4" "146560724" "146560724" "subst" "0.000135584" "02327" "MMAA_000003" "g.146560724C>T" "" "" "" "MMAA(NM_001375644.1):c.433C>T (p.R145*), MMAA(NM_172250.3):c.433C>T (p.R145*, p.(Arg145Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145639572C>T" "" "pathogenic" "" "0000521738" "0" "30" "4" "146560383" "146560383" "subst" "5.28039E-5" "02330" "MMAA_000011" "g.146560383G>A" "" "" "" "MMAA(NM_172250.3):c.92G>A (p.S31N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145639231G>A" "" "likely benign" "" "0000521739" "0" "10" "4" "146572227" "146572227" "subst" "0.0705675" "02330" "MMAA_000012" "g.146572227G>A" "" "" "" "MMAA(NM_172250.3):c.747G>A (p.S249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145651075G>A" "" "benign" "" "0000521740" "0" "10" "4" "146572227" "146572227" "subst" "0.0705675" "02325" "MMAA_000012" "g.146572227G>A" "" "" "" "MMAA(NM_172250.3):c.747G>A (p.S249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145651075G>A" "" "benign" "" "0000521741" "0" "30" "4" "146575292" "146575292" "subst" "0.000613327" "01943" "MMAA_000013" "g.146575292A>G" "" "" "" "MMAA(NM_172250.3):c.966A>G (p.P322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145654140A>G" "" "likely benign" "" "0000651404" "1" "90" "4" "146560724" "146560724" "subst" "0.000135584" "03575" "MMAA_000003" "g.146560724C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104893851}" "Germline" "" "rs104893851" "0" "" "" "g.145639572C>T" "" "pathogenic" "" "0000651405" "1" "90" "4" "146576317" "146576317" "subst" "8.12737E-6" "03575" "MMAA_000014" "g.146576317C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs571038432}" "Germline" "" "rs571038432" "0" "" "" "g.145655165C>T" "" "pathogenic" "" "0000651406" "1" "50" "4" "146578950" "146578950" "subst" "0" "03575" "MMAA_000015" "g.146578950A>G" "88/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "88 heterozygous; {DB:CLININrs13129907}" "Germline" "" "rs13129907" "0" "" "" "g.145657798A>G" "" "VUS" "" "0000669800" "3" "50" "4" "146578950" "146578950" "subst" "0" "03575" "MMAA_000015" "g.146578950A>G" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs13129907}" "Germline" "" "rs13129907" "0" "" "" "g.145657798A>G" "" "VUS" "" "0000677203" "0" "50" "4" "146575267" "146575267" "subst" "8.93539E-5" "01943" "MMAA_000016" "g.146575267G>A" "" "" "" "MMAA(NM_172250.3):c.941G>A (p.R314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801520" "0" "90" "4" "146560724" "146560724" "subst" "0.000135584" "01943" "MMAA_000003" "g.146560724C>T" "" "" "" "MMAA(NM_001375644.1):c.433C>T (p.R145*), MMAA(NM_172250.3):c.433C>T (p.R145*, p.(Arg145Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801521" "0" "90" "4" "146567309" "146567309" "subst" "4.06207E-6" "02327" "MMAA_000017" "g.146567309G>A" "" "" "" "MMAA(NM_172250.3):c.733+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801522" "0" "10" "4" "146572227" "146572227" "subst" "0.0705675" "02327" "MMAA_000012" "g.146572227G>A" "" "" "" "MMAA(NM_172250.3):c.747G>A (p.S249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801523" "0" "50" "4" "146576408" "146576408" "subst" "7.71574E-5" "01943" "MMAA_000006" "g.146576408G>A" "" "" "" "MMAA(NM_172250.2):c.1079G>A (p.(Arg360Gln)), MMAA(NM_172250.3):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850532" "0" "90" "4" "146567309" "146567309" "subst" "4.06207E-6" "01943" "MMAA_000017" "g.146567309G>A" "" "" "" "MMAA(NM_172250.3):c.733+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948265" "0" "90" "4" "146567161" "146567161" "subst" "8.12539E-6" "02327" "MMAA_000004" "g.146567161C>T" "" "" "" "MMAA(NM_172250.3):c.586C>T (p.R196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976136" "0" "90" "4" "146560724" "146560724" "subst" "0.000135584" "01804" "MMAA_000003" "g.146560724C>T" "" "" "" "MMAA(NM_001375644.1):c.433C>T (p.R145*), MMAA(NM_172250.3):c.433C>T (p.R145*, p.(Arg145Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976137" "0" "50" "4" "146563593" "146563593" "subst" "0" "01804" "MMAA_000018" "g.146563593A>C" "" "" "" "MMAA(NM_172250.3):c.518A>C (p.(Lys173Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976138" "0" "90" "4" "146576317" "146576317" "subst" "8.12737E-6" "01804" "MMAA_000014" "g.146576317C>T" "" "" "" "MMAA(NM_172250.3):c.988C>T (p.(Arg330*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994097" "0" "50" "4" "146563509" "146563509" "subst" "1.21851E-5" "02325" "MMAA_000019" "g.146563509C>T" "" "" "" "MMAA(NM_172250.3):c.440-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013937" "0" "90" "4" "146560724" "146560724" "subst" "0.000135584" "02329" "MMAA_000003" "g.146560724C>T" "" "" "" "MMAA(NM_001375644.1):c.433C>T (p.R145*), MMAA(NM_172250.3):c.433C>T (p.R145*, p.(Arg145Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029723" "2" "90" "4" "146540561" "146540561" "subst" "0" "04409" "MMAA_000020" "g.146540561T>C" "" "" "" "" "" "Uniparental disomy, maternal allele" "yes" "" "0" "" "" "g.145619409T>C" "" "pathogenic (recessive)" "ACMG" "0001030023" "21" "90" "4" "146540561" "146540561" "subst" "0" "04409" "MMAA_000020" "g.146540561T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.145619409T>C" "" "pathogenic (recessive)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MMAA ## Count = 32 "{{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}}" "0000129985" "00013701" "90" "593" "0" "596" "0" "c.593_596del" "r.(?)" "p.(Thr198Serfs*6)" "" "0000129986" "00013701" "70" "651" "0" "651" "0" "c.651dup" "r.(?)" "p.(Gly218Argfs*9)" "" "0000249807" "00013701" "50" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Ser374Gly)" "" "0000279837" "00013701" "10" "1089" "0" "1089" "0" "c.1089G>C" "r.(?)" "p.(Gln363His)" "" "0000279838" "00013701" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000286615" "00013701" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Ter)" "" "0000286616" "00013701" "90" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248Ter)" "" "0000330142" "00013701" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000330143" "00013701" "50" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Val396Phe)" "" "0000341936" "00013701" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Ter)" "" "0000521738" "00013701" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Ser31Asn)" "" "0000521739" "00013701" "10" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Ser249=)" "" "0000521740" "00013701" "10" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Ser249=)" "" "0000521741" "00013701" "30" "966" "0" "966" "0" "c.966A>G" "r.(?)" "p.(Pro322=)" "" "0000651404" "00013701" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145*)" "" "0000651405" "00013701" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330*)" "" "0000651406" "00013701" "50" "3621" "0" "3621" "0" "c.*2364A>G" "r.(=)" "p.(=)" "" "0000669800" "00013701" "50" "3621" "0" "3621" "0" "c.*2364A>G" "r.(=)" "p.(=)" "" "0000677203" "00013701" "50" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314His)" "" "0000801520" "00013701" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Ter)" "" "0000801521" "00013701" "90" "733" "1" "733" "1" "c.733+1G>A" "r.spl?" "p.?" "" "0000801522" "00013701" "10" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Ser249=)" "" "0000801523" "00013701" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000850532" "00013701" "90" "733" "1" "733" "1" "c.733+1G>A" "r.spl?" "p.?" "" "0000948265" "00013701" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000976136" "00013701" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Ter)" "" "0000976137" "00013701" "50" "518" "0" "518" "0" "c.518A>C" "r.(?)" "p.(Lys173Thr)" "" "0000976138" "00013701" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330*)" "" "0000994097" "00013701" "50" "440" "-6" "440" "-6" "c.440-6C>T" "r.(=)" "p.(=)" "" "0001013937" "00013701" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Ter)" "" "0001029723" "00013701" "90" "-66" "2" "-66" "2" "c.-66+2T>C" "r.spl" "p.?" "1i" "0001030023" "00013701" "90" "-66" "2" "-66" "2" "c.-66+2T>C" "r.spl" "p.?" "1i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000080909" "0000129985" "0000080909" "0000129986" "0000294715" "0000651404" "0000294716" "0000651405" "0000294717" "0000651406" "0000306112" "0000669800" "0000465937" "0001029723" "0000465937" "0001030023"