### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MMAB) # 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}}" "MMAB" "methylmalonic aciduria (cobalamin deficiency) cblB type" "12" "q24" "unknown" "NG_007096.1" "UD_132118927097" "" "https://www.LOVD.nl/MMAB" "" "1" "19331" "326625" "607568" "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/MMAB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-25 20:12:19" "00006" "2026-07-27 18:03:10" ## 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}}" "00013702" "MMAB" "transcript variant 1" "001" "NM_052845.3" "" "NP_443077.1" "" "" "" "-73" "4066" "753" "110011358" "109991520" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01921" "-" "aciduria, methylmalonic, cblB type" "AR" "251110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic disease" "metabolic disease" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-02-16 15:43:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MMAB" "01921" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00181040" "" "" "" "1" "" "02568" "" "" "" "" "" "" "0" "" "" "" "" "00290590" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00453633" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat49" "00481764" "" "" "" "1" "" "00006" "{PMID:Wang 2024:39050252}" "analysis 21,840 newborns hospitalized with inborn error of metabolism" "F" "" "China" "" "0" "" "" "" "Pat41" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00181040" "01921" "00290590" "00198" "00453633" "02554" "00481764" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01921, 02554 ## Count = 3 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000143292" "01921" "00181040" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000342290" "02554" "00453633" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "methylmalonic aciduria" "inborn error of metabolism" "" "0000366037" "02554" "00481764" "00006" "Familial, autosomal recessive" "" "birth 39wg+2, weight 2450g" "" "" "" "" "" "" "" "MACB" "methylmalonic acidemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181988" "00181040" "1" "02568" "02568" "2018-09-21 12:26:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000291758" "00290590" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000455245" "00453633" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000483410" "00481764" "1" "00006" "00006" "2026-07-27 18:03:00" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000181988" "MMAB" "0000483410" "MMAB" ## 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 = 89 "{{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}}" "0000247083" "0" "30" "12" "110013940" "110013940" "subst" "1.2183E-5" "02330" "MVK_000028" "g.110013940A>G" "" "" "" "MVK(NM_000431.2):c.216A>G (p.T72=), MVK(NM_000431.4):c.216A>G (p.T72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576135A>G" "" "likely benign" "" "0000247096" "0" "10" "12" "109994870" "109994870" "subst" "0.501377" "02330" "MMAB_000001" "g.109994870A>T" "" "" "" "MMAB(NM_052845.4):c.716T>A (p.M239K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109557065A>T" "" "benign" "" "0000247135" "0" "10" "12" "109999674" "109999674" "subst" "0.00587865" "02330" "MMAB_000006" "g.109999674A>G" "" "" "" "MMAB(NM_052845.4):c.349-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109561869A>G" "" "benign" "" "0000248404" "0" "10" "12" "109994870" "109994870" "subst" "0.501377" "02325" "MMAB_000001" "g.109994870A>T" "" "" "" "MMAB(NM_052845.4):c.716T>A (p.M239K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109557065A>T" "" "benign" "" "0000252209" "0" "30" "12" "110012766" "110012766" "subst" "0" "02326" "MVK_000186" "g.110012766A>G" "" "" "" "MVK(NM_000431.2):c.78+61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574961A>G" "" "likely benign" "" "0000252452" "0" "70" "12" "110012708" "110012708" "subst" "0" "02326" "MVK_000010" "g.110012708A>G" "" "" "" "MVK(NM_000431.2):c.78+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574903A>G" "" "likely pathogenic" "" "0000252506" "0" "90" "12" "110012686" "110012686" "subst" "0" "02326" "MVK_000185" "g.110012686A>C" "" "" "" "MVK(NM_000431.2):c.59A>C (p.H20P), MVK(NM_000431.4):c.59A>C (p.H20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574881A>C" "" "pathogenic" "" "0000252507" "0" "90" "12" "110012686" "110012686" "subst" "0" "02326" "MVK_000002" "g.110012686A>G" "" "" "" "MVK(NM_000431.2):c.59A>G (p.H20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574881A>G" "" "pathogenic" "" "0000252508" "0" "90" "12" "110012698" "110012698" "subst" "0" "02326" "MVK_000006" "g.110012698A>C" "" "" "" "MVK(NM_000431.2):c.71A>C (p.H24P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574893A>C" "" "pathogenic" "" "0000252524" "0" "90" "12" "110012664" "110012664" "subst" "0" "02326" "MVK_000181" "g.110012664A>T" "" "" "" "MVK(NM_000431.2):c.37A>T (p.K13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574859A>T" "" "pathogenic" "" "0000252555" "0" "90" "12" "110012628" "110012628" "subst" "4.42267E-6" "02326" "MVK_000173" "g.110012628A>C" "" "" "" "MVK(NM_000431.2):c.1A>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574823A>C" "" "pathogenic" "" "0000252698" "0" "30" "12" "110013890" "110013890" "subst" "1.21817E-5" "02326" "MVK_000024" "g.110013890A>G" "" "" "" "MVK(NM_000431.2):c.166A>G (p.I56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576085A>G" "" "likely benign" "" "0000254175" "0" "30" "12" "110013940" "110013940" "subst" "1.2183E-5" "01943" "MVK_000028" "g.110013940A>G" "" "" "" "MVK(NM_000431.2):c.216A>G (p.T72=), MVK(NM_000431.4):c.216A>G (p.T72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576135A>G" "" "likely benign" "" "0000279839" "0" "70" "12" "109998860" "109998860" "subst" "0" "02330" "MMAB_000004" "g.109998860C>T" "" "" "" "MMAB(NM_052845.4):c.569G>A (p.R190H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109561055C>T" "" "likely pathogenic" "" "0000279840" "0" "10" "12" "110011230" "110011230" "subst" "0.268576" "02330" "MMAB_000008" "g.110011230C>T" "" "" "" "MMAB(NM_052845.4):c.56G>A (p.R19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109573425C>T" "" "benign" "" "0000279841" "0" "10" "12" "110011229" "110011229" "subst" "0.268884" "02330" "MMAB_000007" "g.110011229G>T" "" "" "" "MMAB(NM_052845.4):c.57C>A (p.R19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109573424G>T" "" "benign" "" "0000279842" "0" "90" "12" "109994886" "109994886" "subst" "3.2487E-5" "02330" "MMAB_000003" "g.109994886G>A" "" "" "" "MMAB(NM_052845.4):c.700C>T (p.Q234*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109557081G>A" "" "pathogenic" "" "0000279843" "0" "30" "12" "110011289" "110011289" "subst" "0.00119111" "02330" "MMAB_000009" "g.110011289C>G" "" "" "" "MMAB(NR_038118.2):n.21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109573484C>G" "" "likely benign" "" "0000282550" "0" "10" "12" "110011230" "110011230" "subst" "0.268576" "02325" "MMAB_000008" "g.110011230C>T" "" "" "" "MMAB(NM_052845.4):c.56G>A (p.R19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109573425C>T" "" "benign" "" "0000282551" "0" "10" "12" "110011229" "110011229" "subst" "0.268884" "02325" "MMAB_000007" "g.110011229G>T" "" "" "" "MMAB(NM_052845.4):c.57C>A (p.R19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109573424G>T" "" "benign" "" "0000283701" "0" "90" "12" "109998873" "109998873" "subst" "0.000126812" "02329" "MMAB_000005" "g.109998873G>A" "" "" "" "MMAB(NM_052845.3):c.556C>T (p.(Arg186Trp)), MMAB(NM_052845.4):c.556C>T (p.R186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109561068G>A" "" "pathogenic" "" "0000286717" "0" "50" "12" "110012615" "110012706" "del" "0" "02326" "MVK_000172" "g.110012615_110012706del" "" "" "" "MVK(NM_000431.2):c.-14_78del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574810_109574901del" "" "VUS" "" "0000286729" "0" "70" "12" "110013831" "110013831" "subst" "0" "02326" "MVK_000016" "g.110013831G>C" "" "" "" "MVK(NM_000431.2):c.107G>C (p.R36T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576026G>C" "" "likely pathogenic" "" "0000286739" "0" "90" "12" "110013840" "110013840" "subst" "0" "02326" "MVK_000017" "g.110013840T>C" "" "" "" "MVK(NM_000431.2):c.116T>C (p.L39P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576035T>C" "" "pathogenic" "" "0000286741" "0" "70" "12" "110013842" "110013842" "subst" "4.06065E-6" "02326" "MVK_000018" "g.110013842C>T" "" "" "" "MVK(NM_000431.2):c.118C>T (p.R40W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576037C>T" "" "likely pathogenic" "" "0000286742" "0" "50" "12" "110013843" "110013843" "subst" "8.12117E-6" "02326" "MVK_000019" "g.110013843G>T" "" "" "" "MVK(NM_000431.2):c.119G>T (p.R40L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576038G>T" "" "VUS" "" "0000286743" "0" "50" "12" "110013846" "110013846" "subst" "0" "02326" "MVK_000020" "g.110013846T>C" "" "" "" "MVK(NM_000431.2):c.122T>C (p.L41P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576041T>C" "" "VUS" "" "0000286744" "0" "90" "12" "110013853" "110013854" "del" "0" "02326" "MVK_000021" "g.110013853_110013854del" "" "" "" "MVK(NM_000431.2):c.129_130delCC (p.H44Qfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576048_109576049del" "" "pathogenic" "" "0000286745" "0" "50" "12" "110012641" "110012641" "subst" "4.27844E-5" "02326" "MVK_000175" "g.110012641T>C" "" "" "" "MVK(NM_000431.2):c.14T>C (p.V5A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574836T>C" "" "VUS" "" "0000286746" "0" "70" "12" "110013875" "110013875" "subst" "1.21818E-5" "02326" "MVK_000022" "g.110013875C>T" "" "" "" "MVK(NM_000431.2):c.151C>T (p.L51F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576070C>T" "" "likely pathogenic" "" "0000286747" "0" "10" "12" "110013879" "110013879" "subst" "0.100976" "02326" "MVK_000023" "g.110013879G>A" "" "" "" "MVK(NM_000431.2):c.155G>A (p.S52N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576074G>A" "" "benign" "" "0000286748" "0" "90" "12" "110012643" "110012661" "del" "0" "02326" "MVK_000176" "g.110012643_110012661del" "" "" "" "MVK(NM_000431.2):c.16_34delCTACTGGTGTCTGCTCCGG (p.L6Gfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574838_109574856del" "" "pathogenic" "" "0000286749" "0" "90" "12" "110013909" "110013909" "subst" "0" "02326" "MVK_000025" "g.110013909G>A" "" "" "" "MVK(NM_000431.2):c.185G>A (p.W62*), MVK(NM_000431.4):c.185G>A (p.W62*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576104G>A" "" "pathogenic" "" "0000286750" "0" "90" "12" "110013910" "110013910" "subst" "0" "02326" "MVK_000026" "g.110013910G>A" "" "" "" "MVK(NM_000431.2):c.186G>A (p.W62*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576105G>A" "" "pathogenic" "" "0000286751" "0" "50" "12" "110013929" "110013929" "subst" "0" "02326" "MVK_000027" "g.110013929T>A" "" "" "" "MVK(NM_000431.2):c.205T>A (p.S69T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576124T>A" "" "VUS" "" "0000286754" "0" "50" "12" "110012649" "110012649" "subst" "0" "02326" "MVK_000177" "g.110012649G>A" "" "" "" "MVK(NM_000431.2):c.22G>A (p.V8M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574844G>A" "" "VUS" "" "0000286755" "0" "50" "12" "110012649" "110012649" "subst" "0" "02326" "MVK_000178" "g.110012649G>C" "" "" "" "MVK(NM_000431.2):c.22G>C (p.V8L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574844G>C" "" "VUS" "" "0000286757" "0" "50" "12" "110012650" "110012650" "subst" "0" "02326" "MVK_000179" "g.110012650T>A" "" "" "" "MVK(NM_000431.2):c.23T>A (p.V8E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574845T>A" "" "VUS" "" "0000286762" "0" "90" "12" "110012661" "110012661" "subst" "0" "02326" "MVK_000180" "g.110012661G>C" "" "" "" "MVK(NM_000431.2):c.34G>C (p.G12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574856G>C" "" "pathogenic" "" "0000286772" "0" "90" "12" "110012630" "110012630" "subst" "0" "02326" "MVK_000174" "g.110012630G>C" "" "" "" "MVK(NM_000431.2):c.3G>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574825G>C" "" "pathogenic" "" "0000286793" "0" "50" "12" "110012679" "110012679" "subst" "0" "02326" "MVK_000182" "g.110012679G>A" "" "" "" "MVK(NM_000431.2):c.52G>A (p.G18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574874G>A" "" "VUS" "" "0000286794" "0" "50" "12" "110012682" "110012682" "subst" "0" "02326" "MVK_000183" "g.110012682G>A" "" "" "" "MVK(NM_000431.2):c.55G>A (p.E19K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574877G>A" "" "VUS" "" "0000286797" "0" "90" "12" "110012685" "110012685" "subst" "0" "02326" "MVK_000184" "g.110012685C>A" "" "" "" "MVK(NM_000431.2):c.58C>A (p.H20N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574880C>A" "" "pathogenic" "" "0000286801" "0" "90" "12" "110012687" "110012687" "subst" "0" "02326" "MVK_000003" "g.110012687T>A" "" "" "" "MVK(NM_000431.2):c.60T>A (p.H20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574882T>A" "" "pathogenic" "" "0000286803" "0" "70" "12" "110012689" "110012689" "subst" "0" "02326" "MVK_000004" "g.110012689C>T" "" "" "" "MVK(NM_000431.2):c.62C>T (p.A21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574884C>T" "" "likely pathogenic" "" "0000286811" "0" "50" "12" "110012691" "110012691" "subst" "0" "02326" "MVK_000005" "g.110012691G>A" "" "" "" "MVK(NM_000431.2):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574886G>A" "" "VUS" "" "0000286822" "0" "90" "12" "110012699" "110012699" "dup" "0" "02326" "MVK_000007" "g.110012699dup" "" "" "" "MVK(NM_000431.2):c.72dupT (p.G25Wfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574894dup" "" "pathogenic" "" "0000286825" "0" "90" "12" "110012702" "110012702" "subst" "0" "02326" "MVK_000008" "g.110012702C>T" "" "" "" "MVK(NM_000431.2):c.75C>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574897C>T" "" "pathogenic" "" "0000286832" "0" "30" "12" "110012715" "110012715" "subst" "0" "02326" "MVK_000011" "g.110012715C>T" "" "" "" "MVK(NM_000431.2):c.78+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574910C>T" "" "likely benign" "" "0000286833" "0" "30" "12" "110012882" "110012882" "subst" "0" "02326" "MVK_000012" "g.110012882G>A" "" "" "" "MVK(NM_000431.2):c.78+177G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109575077G>A" "" "likely benign" "" "0000286834" "0" "90" "12" "110012707" "110012707" "del" "0" "02326" "MVK_000009" "g.110012707del" "" "" "" "MVK(NM_000431.2):c.78+2delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109574902del" "" "pathogenic" "" "0000286838" "0" "30" "12" "110013741" "110013741" "subst" "0" "02326" "MVK_000013" "g.110013741G>A" "" "" "" "MVK(NM_000431.2):c.79-62G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109575936G>A" "" "likely benign" "" "0000286847" "0" "90" "12" "110013806" "110013806" "subst" "4.06081E-6" "02326" "MVK_000014" "g.110013806G>A" "" "" "" "MVK(NM_000431.2):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576001G>A" "" "pathogenic" "" "0000286855" "0" "90" "12" "110013810" "110013810" "del" "0" "02326" "MVK_000015" "g.110013810del" "" "" "" "MVK(NM_000431.2):c.86delT (p.L29Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576005del" "" "pathogenic" "" "0000292236" "0" "30" "12" "110013957" "110013957" "subst" "1.62491E-5" "01943" "MVK_000029" "g.110013957G>T" "" "" "" "MVK(NM_000431.2):c.226+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576152G>T" "" "likely benign" "" "0000349079" "0" "10" "12" "110013879" "110013879" "subst" "0.100976" "02327" "MVK_000023" "g.110013879G>A" "" "" "" "MVK(NM_000431.2):c.155G>A (p.S52N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109576074G>A" "" "benign" "" "0000405784" "11" "70" "12" "110006645" "110006645" "subst" "0" "02568" "MMAB_000010" "g.110006645C>A" "" "" "" "Glu74Ter" "" "Germline" "" "" "0" "" "" "g.109568840C>A" "" "likely pathogenic" "" "0000405785" "21" "50" "12" "109998881" "109998881" "subst" "2.04484E-5" "02568" "MMAB_000011" "g.109998881T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109561076T>A" "" "VUS" "" "0000546385" "0" "30" "12" "109996925" "109996925" "subst" "0.000369564" "01804" "MMAB_000012" "g.109996925G>A" "" "" "" "MMAB(NM_052845.3):c.620C>T (p.(Ala207Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109559120G>A" "" "likely benign" "" "0000546386" "0" "50" "12" "109998872" "109998872" "subst" "4.08995E-6" "02325" "MMAB_000013" "g.109998872C>T" "" "" "" "MMAB(NM_052845.4):c.557G>A (p.R186Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109561067C>T" "" "VUS" "" "0000546387" "0" "30" "12" "109999314" "109999314" "subst" "2.03013E-5" "01943" "MMAB_000014" "g.109999314T>C" "" "" "" "MMAB(NM_052845.3):c.430A>G (p.T144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109561509T>C" "" "likely benign" "" "0000546388" "0" "10" "12" "110006577" "110006577" "subst" "0.00993625" "02330" "MVK_000192" "g.110006577A>G" "" "" "" "MMAB(NM_052845.4):c.288T>C (p.I96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109568772A>G" "" "benign" "" "0000546391" "0" "90" "12" "110012656" "110012656" "subst" "0" "02326" "MVK_000194" "g.110012656C>T" "" "" "" "MVK(NM_000431.2):c.29C>T (p.A10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109574851C>T" "" "pathogenic" "" "0000546392" "0" "90" "12" "110012686" "110012686" "subst" "0" "01943" "MVK_000185" "g.110012686A>C" "" "" "" "MVK(NM_000431.2):c.59A>C (p.H20P), MVK(NM_000431.4):c.59A>C (p.H20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109574881A>C" "" "pathogenic" "" "0000546393" "0" "90" "12" "110012686" "110012686" "subst" "0" "02327" "MVK_000185" "g.110012686A>C" "" "" "" "MVK(NM_000431.2):c.59A>C (p.H20P), MVK(NM_000431.4):c.59A>C (p.H20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109574881A>C" "" "pathogenic" "" "0000546394" "0" "90" "12" "110013805" "110013952" "del" "0" "02326" "MVK_000195" "g.110013805_110013952del" "" "" "" "MVK(NM_000431.2):c.79_226del (p.V27Sfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109576000_109576147del" "" "pathogenic" "" "0000546395" "0" "90" "12" "110013828" "110013828" "subst" "0" "02326" "MVK_000196" "g.110013828T>C" "" "" "" "MVK(NM_000431.2):c.104T>C (p.L35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109576023T>C" "" "pathogenic" "" "0000613826" "0" "30" "12" "110013829" "110013829" "subst" "8.12143E-6" "01943" "MVK_000221" "g.110013829G>A" "" "" "" "MVK(NM_000431.2):c.105G>A (p.L35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109576024G>A" "" "likely benign" "" "0000613827" "0" "90" "12" "110013909" "110013909" "subst" "0" "02327" "MVK_000025" "g.110013909G>A" "" "" "" "MVK(NM_000431.2):c.185G>A (p.W62*), MVK(NM_000431.4):c.185G>A (p.W62*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109576104G>A" "" "pathogenic" "" "0000648447" "1" "90" "12" "109998873" "109998873" "subst" "0.000126812" "03575" "MMAB_000005" "g.109998873G>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs28941784}" "Germline" "" "rs28941784" "0" "" "" "g.109561068G>A" "" "pathogenic" "" "0000656974" "0" "30" "12" "109999612" "109999612" "subst" "0.00069016" "01943" "MMAB_000015" "g.109999612A>G" "" "" "" "MMAB(NM_052845.3):c.394T>C (p.C132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109561807A>G" "" "likely benign" "" "0000656975" "0" "30" "12" "110011694" "110011694" "subst" "0" "02326" "MVK_000223" "g.110011694C>T" "" "" "" "MVK(NM_000431.2):c.-15+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109573889C>T" "" "likely benign" "" "0000679388" "0" "90" "12" "109998857" "109998857" "dup" "0" "01943" "MMAB_000016" "g.109998857dup" "" "" "" "MMAB(NM_052845.3):c.574dupG (p.A192Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679389" "0" "50" "12" "109999294" "109999294" "subst" "6.73646E-6" "01943" "MMAB_000017" "g.109999294G>C" "" "" "" "MMAB(NM_052845.3):c.450C>G (p.I150M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679390" "0" "30" "12" "110012641" "110012641" "subst" "4.27844E-5" "01943" "MVK_000175" "g.110012641T>C" "" "" "" "MVK(NM_000431.2):c.14T>C (p.V5A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679391" "0" "90" "12" "110013909" "110013909" "subst" "0" "01943" "MVK_000025" "g.110013909G>A" "" "" "" "MVK(NM_000431.2):c.185G>A (p.W62*), MVK(NM_000431.4):c.185G>A (p.W62*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805512" "0" "30" "12" "110011266" "110011266" "subst" "0" "01943" "MVK_000227" "g.110011266C>T" "" "" "" "MMAB(NM_052845.3):c.20G>A (p.G7E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853236" "0" "30" "12" "110011229" "110011229" "subst" "0.268884" "02326" "MMAB_000007" "g.110011229G>T" "" "" "" "MMAB(NM_052845.4):c.57C>A (p.R19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949824" "0" "90" "12" "109998873" "109998873" "subst" "0.000126812" "02327" "MMAB_000005" "g.109998873G>A" "" "" "" "MMAB(NM_052845.3):c.556C>T (p.(Arg186Trp)), MMAB(NM_052845.4):c.556C>T (p.R186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949825" "0" "90" "12" "110013909" "110013909" "subst" "0" "02325" "MVK_000025" "g.110013909G>A" "" "" "" "MVK(NM_000431.2):c.185G>A (p.W62*), MVK(NM_000431.4):c.185G>A (p.W62*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966675" "0" "50" "12" "110013843" "110013843" "subst" "1.62423E-5" "02325" "MVK_000239" "g.110013843G>A" "" "" "" "MVK(NM_000431.4):c.119G>A (p.R40Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979987" "0" "50" "12" "109998906" "109998906" "subst" "0" "01804" "MMAB_000018" "g.109998906C>G" "" "" "" "MMAB(NM_052845.4):c.523G>C (p.(Gly175Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979988" "0" "90" "12" "110012686" "110012686" "subst" "0" "02325" "MVK_000185" "g.110012686A>C" "" "" "" "MVK(NM_000431.2):c.59A>C (p.H20P), MVK(NM_000431.4):c.59A>C (p.H20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999595" "0" "90" "12" "109998873" "109998873" "subst" "0.000126812" "01804" "MMAB_000005" "g.109998873G>A" "" "" "" "MMAB(NM_052845.3):c.556C>T (p.(Arg186Trp)), MMAB(NM_052845.4):c.556C>T (p.R186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007278" "1" "90" "12" "110006645" "110006645" "subst" "0" "00006" "MMAB_000010" "g.110006645C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.109568840C>A" "" "pathogenic" "" "0001007393" "2" "70" "12" "109998881" "109998881" "subst" "2.04484E-5" "00006" "MMAB_000011" "g.109998881T>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.109561076T>A" "" "likely pathogenic" "" "0001038920" "0" "50" "12" "110011256" "110011273" "del" "0" "01804" "MVK_000240" "g.110011256_110011273del" "" "" "" "MMAB(NM_052845.4):c.37_54del (p.(Gly13_Leu18del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001080932" "1" "90" "12" "109998873" "109998873" "subst" "0.000126812" "00006" "MMAB_000005" "g.109998873G>A" "" "{PMID:Wang 2024:39050252}" "" "556C>T" "" "Germline" "" "" "0" "" "" "g.109561068G>A" "" "pathogenic (recessive)" "" "0001080974" "2" "90" "12" "109998851" "109998852" "del" "0" "00006" "chr12_009439" "g.109998851_109998852del" "" "{PMID:Wang 2024:39050252}" "" "581_582delTC (Arg194Thrfs*24)" "" "Germline" "" "" "0" "" "" "g.109561046_109561047del" "" "pathogenic (recessive)" "" ## 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 MMAB ## Count = 89 "{{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}}" "0000247083" "00013702" "30" "-2655" "0" "-2655" "0" "c.-2655T>C" "r.(?)" "p.(=)" "" "0000247096" "00013702" "10" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Met239Lys)" "" "0000247135" "00013702" "10" "349" "-17" "349" "-17" "c.349-17T>C" "r.(=)" "p.(=)" "" "0000248404" "00013702" "10" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Met239Lys)" "" "0000252209" "00013702" "30" "-1481" "0" "-1481" "0" "c.-1481T>C" "r.(?)" "p.(=)" "" "0000252452" "00013702" "70" "-1423" "0" "-1423" "0" "c.-1423T>C" "r.(?)" "p.(=)" "" "0000252506" "00013702" "90" "-1401" "0" "-1401" "0" "c.-1401T>G" "r.(?)" "p.(=)" "" "0000252507" "00013702" "90" "-1401" "0" "-1401" "0" "c.-1401T>C" "r.(?)" "p.(=)" "" "0000252508" "00013702" "90" "-1413" "0" "-1413" "0" "c.-1413T>G" "r.(?)" "p.(=)" "" "0000252524" "00013702" "90" "-1379" "0" "-1379" "0" "c.-1379T>A" "r.(?)" "p.(=)" "" "0000252555" "00013702" "90" "-1343" "0" "-1343" "0" "c.-1343T>G" "r.(?)" "p.(=)" "" "0000252698" "00013702" "30" "-2605" "0" "-2605" "0" "c.-2605T>C" "r.(?)" "p.(=)" "" "0000254175" "00013702" "30" "-2655" "0" "-2655" "0" "c.-2655T>C" "r.(?)" "p.(=)" "" "0000279839" "00013702" "70" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190His)" "" "0000279840" "00013702" "10" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" "" "0000279841" "00013702" "10" "57" "0" "57" "0" "c.57C>A" "r.(?)" "p.(Arg19=)" "" "0000279842" "00013702" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234Ter)" "" "0000279843" "00013702" "30" "-4" "0" "-4" "0" "c.-4G>C" "r.(?)" "p.(=)" "" "0000282550" "00013702" "10" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" "" "0000282551" "00013702" "10" "57" "0" "57" "0" "c.57C>A" "r.(?)" "p.(Arg19=)" "" "0000283701" "00013702" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "0000286717" "00013702" "50" "-1418" "0" "-1327" "0" "c.-1418_-1327del" "r.(?)" "p.(=)" "" "0000286729" "00013702" "70" "-2546" "0" "-2546" "0" "c.-2546C>G" "r.(?)" "p.(=)" "" "0000286739" "00013702" "90" "-2555" "0" "-2555" "0" "c.-2555A>G" "r.(?)" "p.(=)" "" "0000286741" "00013702" "70" "-2557" "0" "-2557" "0" "c.-2557G>A" "r.(?)" "p.(=)" "" "0000286742" "00013702" "50" "-2558" "0" "-2558" "0" "c.-2558C>A" "r.(?)" "p.(=)" "" "0000286743" "00013702" "50" "-2561" "0" "-2561" "0" "c.-2561A>G" "r.(?)" "p.(=)" "" "0000286744" "00013702" "90" "-2567" "0" "-2566" "0" "c.-2567_-2566del" "r.(?)" "p.(=)" "" "0000286745" "00013702" "50" "-1356" "0" "-1356" "0" "c.-1356A>G" "r.(?)" "p.(=)" "" "0000286746" "00013702" "70" "-2590" "0" "-2590" "0" "c.-2590G>A" "r.(?)" "p.(=)" "" "0000286747" "00013702" "10" "-2594" "0" "-2594" "0" "c.-2594C>T" "r.(?)" "p.(=)" "" "0000286748" "00013702" "90" "-1376" "0" "-1358" "0" "c.-1376_-1358del" "r.(?)" "p.(=)" "" "0000286749" "00013702" "90" "-2624" "0" "-2624" "0" "c.-2624C>T" "r.(?)" "p.(=)" "" "0000286750" "00013702" "90" "-2625" "0" "-2625" "0" "c.-2625C>T" "r.(?)" "p.(=)" "" "0000286751" "00013702" "50" "-2644" "0" "-2644" "0" "c.-2644A>T" "r.(?)" "p.(=)" "" "0000286754" "00013702" "50" "-1364" "0" "-1364" "0" "c.-1364C>T" "r.(?)" "p.(=)" "" "0000286755" "00013702" "50" "-1364" "0" "-1364" "0" "c.-1364C>G" "r.(?)" "p.(=)" "" "0000286757" "00013702" "50" "-1365" "0" "-1365" "0" "c.-1365A>T" "r.(?)" "p.(=)" "" "0000286762" "00013702" "90" "-1376" "0" "-1376" "0" "c.-1376C>G" "r.(?)" "p.(=)" "" "0000286772" "00013702" "90" "-1345" "0" "-1345" "0" "c.-1345C>G" "r.(?)" "p.(=)" "" "0000286793" "00013702" "50" "-1394" "0" "-1394" "0" "c.-1394C>T" "r.(?)" "p.(=)" "" "0000286794" "00013702" "50" "-1397" "0" "-1397" "0" "c.-1397C>T" "r.(?)" "p.(=)" "" "0000286797" "00013702" "90" "-1400" "0" "-1400" "0" "c.-1400G>T" "r.(?)" "p.(=)" "" "0000286801" "00013702" "90" "-1402" "0" "-1402" "0" "c.-1402A>T" "r.(?)" "p.(=)" "" "0000286803" "00013702" "70" "-1404" "0" "-1404" "0" "c.-1404G>A" "r.(?)" "p.(=)" "" "0000286811" "00013702" "50" "-1406" "0" "-1406" "0" "c.-1406C>T" "r.(?)" "p.(=)" "" "0000286822" "00013702" "90" "-1414" "0" "-1414" "0" "c.-1414dup" "r.(?)" "p.(=)" "" "0000286825" "00013702" "90" "-1417" "0" "-1417" "0" "c.-1417G>A" "r.(?)" "p.(=)" "" "0000286832" "00013702" "30" "-1430" "0" "-1430" "0" "c.-1430G>A" "r.(?)" "p.(=)" "" "0000286833" "00013702" "30" "-1597" "0" "-1597" "0" "c.-1597C>T" "r.(?)" "p.(=)" "" "0000286834" "00013702" "90" "-1422" "0" "-1422" "0" "c.-1422del" "r.(?)" "p.(=)" "" "0000286838" "00013702" "30" "-2456" "0" "-2456" "0" "c.-2456C>T" "r.(?)" "p.(=)" "" "0000286847" "00013702" "90" "-2521" "0" "-2521" "0" "c.-2521C>T" "r.(?)" "p.(=)" "" "0000286855" "00013702" "90" "-2525" "0" "-2525" "0" "c.-2525del" "r.(?)" "p.(=)" "" "0000292236" "00013702" "30" "-2672" "0" "-2672" "0" "c.-2672C>A" "r.(?)" "p.(=)" "" "0000349079" "00013702" "10" "-2594" "0" "-2594" "0" "c.-2594C>T" "r.(?)" "p.(=)" "" "0000405784" "00013702" "70" "220" "0" "220" "0" "c.220G>T" "r.(?)" "p.(Glu74*)" "" "0000405785" "00013702" "50" "548" "0" "548" "0" "c.548A>T" "r.(?)" "p.(His183Leu)" "" "0000546385" "00013702" "30" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Ala207Val)" "" "0000546386" "00013702" "50" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000546387" "00013702" "30" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Thr144Ala)" "" "0000546388" "00013702" "10" "288" "0" "288" "0" "c.288T>C" "r.(?)" "p.(Ile96=)" "" "0000546391" "00013702" "90" "-1371" "0" "-1371" "0" "c.-1371G>A" "r.(?)" "p.(=)" "" "0000546392" "00013702" "90" "-1401" "0" "-1401" "0" "c.-1401T>G" "r.(?)" "p.(=)" "" "0000546393" "00013702" "90" "-1401" "0" "-1401" "0" "c.-1401T>G" "r.(?)" "p.(=)" "" "0000546394" "00013702" "90" "-2664" "0" "-2517" "0" "c.-2664_-2517del" "r.(?)" "p.(=)" "" "0000546395" "00013702" "90" "-2543" "0" "-2543" "0" "c.-2543A>G" "r.(?)" "p.(=)" "" "0000613826" "00013702" "30" "-2544" "0" "-2544" "0" "c.-2544C>T" "r.(?)" "p.(=)" "" "0000613827" "00013702" "90" "-2624" "0" "-2624" "0" "c.-2624C>T" "r.(?)" "p.(=)" "" "0000648447" "00013702" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "0000656974" "00013702" "30" "394" "0" "394" "0" "c.394T>C" "r.(?)" "p.(Cys132Arg)" "" "0000656975" "00013702" "30" "-409" "0" "-409" "0" "c.-409G>A" "r.(?)" "p.(=)" "" "0000679388" "00013702" "90" "574" "0" "574" "0" "c.574dup" "r.(?)" "p.(Ala192GlyfsTer27)" "" "0000679389" "00013702" "50" "450" "0" "450" "0" "c.450C>G" "r.(?)" "p.(Ile150Met)" "" "0000679390" "00013702" "30" "-1356" "0" "-1356" "0" "c.-1356A>G" "r.(?)" "p.(=)" "" "0000679391" "00013702" "90" "-2624" "0" "-2624" "0" "c.-2624C>T" "r.(?)" "p.(=)" "" "0000805512" "00013702" "30" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Gly7Glu)" "" "0000853236" "00013702" "30" "57" "0" "57" "0" "c.57C>A" "r.(?)" "p.(Arg19=)" "" "0000949824" "00013702" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "0000949825" "00013702" "90" "-2624" "0" "-2624" "0" "c.-2624C>T" "r.(?)" "p.(=)" "" "0000966675" "00013702" "50" "-2558" "0" "-2558" "0" "c.-2558C>T" "r.(?)" "p.(=)" "" "0000979987" "00013702" "50" "523" "0" "523" "0" "c.523G>C" "r.(?)" "p.(Gly175Arg)" "" "0000979988" "00013702" "90" "-1401" "0" "-1401" "0" "c.-1401T>G" "r.(?)" "p.(=)" "" "0000999595" "00013702" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "0001007278" "00013702" "90" "220" "0" "220" "0" "c.220G>T" "r.(?)" "p.(Glu74Ter)" "3" "0001007393" "00013702" "70" "548" "0" "548" "0" "c.548A>T" "r.(?)" "p.(His183Leu)" "" "0001038920" "00013702" "50" "37" "0" "54" "0" "c.37_54del" "r.(?)" "p.(Gly13_Leu18del)" "" "0001080932" "00013702" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "0001080974" "00013702" "90" "581" "0" "582" "0" "c.581_582del" "r.(?)" "p.(Arg194ThrfsTer24)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000181988" "0000405784" "0000181988" "0000405785" "0000291758" "0000648447" "0000455245" "0001007278" "0000455245" "0001007393" "0000483410" "0001080932" "0000483410" "0001080974"