### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAFB) # 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}}" "MAFB" "v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)" "20" "q11.1-q13.1" "unknown" "NG_023378.1" "UD_132118551914" "" "https://www.LOVD.nl/MAFB" "" "1" "6408" "9935" "608968" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/MAFB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-03-09 00:00:00" "00006" "2017-07-04 20:51:46" "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}}" "00024285" "MAFB" "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B" "001" "NM_005461.4" "" "NP_005452.2" "" "" "" "-390" "3003" "972" "39317880" "39314488" "00006" "2017-07-04 20:50:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01039" "MCTO" "osteolysis, carpotarsal, multicentric syndrome (MCTO)" "AD" "166300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06506" "DURS3" "Duane retraction syndrome 3" "AD" "617041" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAFB" "01039" "MAFB" "06506" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00107888" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107889" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107890" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107891" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107892" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107893" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107894" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107895" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107896" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107897" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107898" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107899" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107900" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107901" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107902" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107903" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107904" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00107905" "" "" "" "1" "" "00006" "{PMID:Zankl 2012:22387013}" "" "" "" "Australia" "" "0" "" "" "" "" "00324089" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "167527" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00107888" "01039" "00107889" "01039" "00107890" "01039" "00107891" "01039" "00107892" "01039" "00107893" "01039" "00107894" "01039" "00107895" "01039" "00107896" "01039" "00107897" "01039" "00107898" "01039" "00107899" "01039" "00107900" "01039" "00107901" "01039" "00107902" "01039" "00107903" "01039" "00107904" "01039" "00107905" "01039" "00324089" "01039" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01039, 06506 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000085642" "01039" "00107888" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085643" "01039" "00107889" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085644" "01039" "00107890" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085645" "01039" "00107891" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085646" "01039" "00107892" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085647" "01039" "00107893" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085648" "01039" "00107894" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085649" "01039" "00107895" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085650" "01039" "00107896" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085651" "01039" "00107897" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085652" "01039" "00107898" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085653" "01039" "00107899" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085654" "01039" "00107900" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085655" "01039" "00107901" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085656" "01039" "00107902" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085657" "01039" "00107903" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085658" "01039" "00107904" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000085659" "01039" "00107905" "00006" "Familial, autosomal dominant" "" "Multicentric carpotarsal osteolysis" "" "" "" "" "" "" "" "" "" "0000242670" "01039" "00324089" "01164" "Familial, autosomal dominant" "55y" "(+) Abnormal joint morphology,(+) Arthritis,(+) Osteolysis,(+) Arthropathy,(+) Abnormality of skeletal morphology" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108357" "00107888" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108358" "00107889" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108359" "00107890" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108360" "00107891" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108361" "00107892" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108362" "00107893" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108363" "00107894" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108364" "00107895" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108365" "00107896" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108366" "00107897" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108367" "00107898" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108368" "00107899" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108369" "00107900" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108370" "00107901" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108371" "00107902" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108372" "00107903" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108373" "00107904" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000108374" "00107905" "1" "00006" "00002" "2012-03-12 12:50:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000325278" "00324089" "1" "01164" "01164" "2020-11-30 16:11:50" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000108357" "MAFB" "0000108358" "MAFB" "0000108359" "MAFB" "0000108360" "MAFB" "0000108361" "MAFB" "0000108362" "MAFB" "0000108363" "MAFB" "0000108364" "MAFB" "0000108365" "MAFB" "0000108366" "MAFB" "0000108367" "MAFB" "0000108368" "MAFB" "0000108369" "MAFB" "0000108370" "MAFB" "0000108371" "MAFB" "0000108372" "MAFB" "0000108373" "MAFB" "0000108374" "MAFB" "0000325278" "MAFB" ## 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 = 28 "{{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}}" "0000174283" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174284" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174285" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174286" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174287" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174288" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174289" "1" "70" "20" "39317330" "39317330" "subst" "0" "00006" "MAFB_000010" "g.39317330G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688690G>A" "" "likely pathogenic" "" "0000174290" "1" "70" "20" "39317315" "39317315" "subst" "0" "00006" "MAFB_000001" "g.39317315G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688675G>A" "" "likely pathogenic" "" "0000174291" "1" "70" "20" "39317307" "39317307" "subst" "0" "00006" "MAFB_000002" "g.39317307T>G" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688667T>G" "" "likely pathogenic" "" "0000174292" "1" "70" "20" "39317303" "39317303" "subst" "0" "00006" "MAFB_000003" "g.39317303G>C" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688663G>C" "" "likely pathogenic" "" "0000174293" "1" "70" "20" "39317294" "39317294" "subst" "0" "00006" "MAFB_000004" "g.39317294G>C" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688654G>C" "" "likely pathogenic" "" "0000174294" "1" "70" "20" "39317285" "39317285" "subst" "0" "00006" "MAFB_000005" "g.39317285G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688645G>A" "" "likely pathogenic" "" "0000174295" "1" "70" "20" "39317283" "39317283" "subst" "0" "00006" "MAFB_000006" "g.39317283A>C" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688643A>C" "" "likely pathogenic" "" "0000174296" "1" "70" "20" "39317282" "39317282" "subst" "0" "00006" "MAFB_000007" "g.39317282G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688642G>A" "" "likely pathogenic" "" "0000174297" "1" "70" "20" "39317282" "39317282" "subst" "0" "00006" "MAFB_000007" "g.39317282G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688642G>A" "" "likely pathogenic" "" "0000174298" "1" "70" "20" "39317280" "39317280" "subst" "0" "00006" "MAFB_000008" "g.39317280G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688640G>A" "" "likely pathogenic" "" "0000174299" "1" "70" "20" "39317280" "39317280" "subst" "0" "00006" "MAFB_000008" "g.39317280G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688640G>A" "" "likely pathogenic" "" "0000174300" "1" "70" "20" "39317279" "39317279" "subst" "0" "00006" "MAFB_000009" "g.39317279G>A" "" "{PMID:Zankl 2012:22387013}" "" "" "0/328 control chromosomes" "Germline" "" "" "0" "" "" "g.40688639G>A" "" "likely pathogenic" "" "0000569568" "0" "50" "20" "39316926" "39316926" "subst" "2.876E-5" "01804" "MAFB_000011" "g.39316926C>T" "" "" "" "MAFB(NM_005461.4):c.565G>A (p.(Gly189Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40688286C>T" "" "VUS" "" "0000708252" "0" "90" "20" "39317330" "39317330" "subst" "0" "01164" "MAFB_000010" "g.39317330G>A" "" "" "" "" "ACMG: PM1, PM2, PM5, PM6, PP1, PP3 class 4" "Germline" "yes" "" "" "" "" "" "{CV:000030773}" "likely pathogenic (dominant)" "ACMG" "0000727681" "0" "50" "20" "39317215" "39317215" "subst" "0" "02327" "MAFB_000012" "g.39317215G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855829" "0" "50" "20" "39317348" "39317348" "subst" "0" "02326" "MAFB_000013" "g.39317348C>A" "" "" "" "MAFB(NM_005461.5):c.143G>T (p.R48L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895304" "0" "30" "20" "39316874" "39316874" "subst" "0" "01804" "MAFB_000014" "g.39316874C>T" "" "" "" "MAFB(NM_005461.4):c.617G>A (p.(Ser206Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933812" "0" "50" "20" "39317457" "39317457" "subst" "0" "03779" "MAFB_000015" "g.39317457G>A" "" "" "" "" "" "Unknown" "" "rs1185769365" "0" "" "" "" "" "VUS" "" "0000970140" "0" "70" "20" "39317303" "39317303" "subst" "0" "02327" "MAFB_000016" "g.39317303G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983800" "0" "50" "20" "39317097" "39317097" "subst" "0" "01804" "MAFB_000017" "g.39317097G>A" "" "" "" "MAFB(NM_005461.5):c.394C>T (p.(His132Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043340" "0" "50" "20" "39316966" "39316966" "subst" "0" "01804" "MAFB_000018" "g.39316966G>C" "" "" "" "MAFB(NM_005461.5):c.525C>G (p.(Ser175Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043341" "0" "50" "20" "39317348" "39317348" "subst" "0" "01804" "MAFB_000019" "g.39317348C>G" "" "" "" "MAFB(NM_005461.5):c.143G>C (p.(Arg48Pro))" "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 MAFB ## Count = 28 "{{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}}" "0000174283" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174284" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174285" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174286" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174287" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174288" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174289" "00024285" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "1" "0000174290" "00024285" "70" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" "1" "0000174291" "00024285" "70" "184" "0" "184" "0" "c.184A>C" "r.(?)" "p.(Thr62Pro)" "1" "0000174292" "00024285" "70" "188" "0" "188" "0" "c.188C>G" "r.(?)" "p.(Pro63Arg)" "1" "0000174293" "00024285" "70" "197" "0" "197" "0" "c.197C>G" "r.(?)" "p.(Ser66Cys)" "1" "0000174294" "00024285" "70" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Leu)" "1" "0000174295" "00024285" "70" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Ser70Ala)" "1" "0000174296" "00024285" "70" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Ser70Leu)" "1" "0000174297" "00024285" "70" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Ser70Leu)" "1" "0000174298" "00024285" "70" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Pro71Ser)" "1" "0000174299" "00024285" "70" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Pro71Ser)" "1" "0000174300" "00024285" "70" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" "1" "0000569568" "00024285" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Gly189Arg)" "" "0000708252" "00024285" "90" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ser54Leu)" "1" "0000727681" "00024285" "50" "276" "0" "276" "0" "c.276C>A" "r.(?)" "p.(Tyr92*)" "" "0000855829" "00024285" "50" "143" "0" "143" "0" "c.143G>T" "r.(?)" "p.(Arg48Leu)" "" "0000895304" "00024285" "30" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Ser206Asn)" "" "0000933812" "00024285" "50" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Pro12Ser)" "" "0000970140" "00024285" "70" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Pro63Leu)" "" "0000983800" "00024285" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(His132Tyr)" "" "0001043340" "00024285" "50" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(Ser175Arg)" "" "0001043341" "00024285" "50" "143" "0" "143" "0" "c.143G>C" "r.(?)" "p.(Arg48Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000108357" "0000174283" "0000108358" "0000174284" "0000108359" "0000174285" "0000108360" "0000174286" "0000108361" "0000174287" "0000108362" "0000174288" "0000108363" "0000174289" "0000108364" "0000174290" "0000108365" "0000174291" "0000108366" "0000174292" "0000108367" "0000174293" "0000108368" "0000174294" "0000108369" "0000174295" "0000108370" "0000174296" "0000108371" "0000174297" "0000108372" "0000174298" "0000108373" "0000174299" "0000108374" "0000174300" "0000325278" "0000708252"