### 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" "00000" "2025-05-05 21:14:00" ## 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 syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" ## 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 = 3 "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00181040" "01921" "00290590" "00198" "00453633" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01921, 02554 ## 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}}" "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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{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" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000181988" "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 = 87 "{{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" "" ## 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 = 87 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000181988" "0000405784" "0000181988" "0000405785" "0000291758" "0000648447" "0000455245" "0001007278" "0000455245" "0001007393"