### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EPB41L1) # 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}}" "EPB41L1" "erythrocyte membrane protein band 4.1-like 1" "20" "q11.2-q12" "unknown" "NG_031853.2" "UD_134408396497" "" "http://www.LOVD.nl/EPB41L1" "" "1" "3378" "2036" "602879" "1" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-11-14 21:51:37" "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}}" "00007140" "EPB41L1" "transcript variant 1" "005" "NM_012156.2" "" "NP_036288.2" "" "" "" "-171" "6105" "2646" "34742662" "34820721" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00814" "MRD11" "mental retardation, autosomal dominant, type 11 (MRD-11)" "AD" "614257" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EPB41L1" "00139" "EPB41L1" "00814" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00024273" "" "" "" "1" "" "00006" "{PMID:Hamdan 2011:21376300}" "" "M" "" "Canada" ">06y" "0" "" "" "" "" "00024275" "" "" "" "285" "" "00006" "{PMID:Hamdan 2011:21376300}" "285 controls" "-" "" "Canada" "" "0" "" "" "French" "" "00024276" "" "" "" "50" "" "00006" "{PMID:Hamdan 2011:21376300}" "50 cases" "-" "" "Canada" "" "0" "" "" "French" "" "00150174" "" "" "" "3" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5368" "00292923" "" "" "" "78" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292924" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304854" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374728" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2073" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00024273" "00139" "00024275" "00000" "00024276" "00139" "00150174" "00198" "00292923" "00198" "00292924" "00198" "00304854" "00198" "00374728" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00814 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020392" "00139" "00024273" "00006" "Isolated (sporadic)" "" "severe intellectual disability, no epilepsy, MRI normal, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000020394" "00139" "00024276" "00006" "Isolated (sporadic)" "" "nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference" "" "" "" "" "" "" "" "" "" "" "" "" "0000122576" "00198" "00150174" "00006" "Familial, autosomal dominant" "" "frontotemporal dementia" "" "" "" "" "" "" "" "" "" "" "" "" "0000269938" "00198" "00374728" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy,autism spectrum disorder, intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024265" "00024273" "1" "00006" "00006" "2014-11-14 21:53:51" "" "" "SEQ" "DNA" "" "" "0000024267" "00024275" "1" "00006" "00006" "2014-11-15 10:20:14" "" "" "SEQ" "DNA" "" "" "0000024268" "00024276" "1" "00006" "00006" "2014-11-15 10:49:27" "" "" "SEQ" "DNA" "" "" "0000151029" "00150174" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000294091" "00292923" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294092" "00292924" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305983" "00304854" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375922" "00374728" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000024265" "EPB41L1" "0000024267" "CACNG2" "0000024267" "EPB41L1" "0000024267" "GRIN1" "0000024267" "KIF1A" "0000024268" "CACNG2" "0000024268" "EPB41L1" "0000024268" "GRIN1" "0000024268" "KIF1A" "0000151029" "EPB41L1" "0000375922" "EPB41L1" ## 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 = 70 "{{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}}" "0000046863" "0" "90" "20" "34810239" "34810239" "subst" "0" "00006" "EPB41L1_000001" "g.34810239C>T" "" "{PMID:Hamdan 2011:21376300}" "" "" "" "De novo" "" "" "0" "" "" "g.36222317C>T" "" "pathogenic" "" "0000046864" "0" "90" "20" "34810239" "34810239" "subst" "0" "00006" "EPB41L1_000001" "g.34810239C>T" "" "{PMID:Hamdan 2011:21376300}" "" "" "expression cloning in HEK293 cells shows disruption of 4.1N binding to GluR1 (0.5) by coIP, insertion of AMPAR subunit GluR1 at synaptic membranesignificantly decreased in transfected hippocampal neurons" "In vitro (cloned)" "-" "" "0" "" "" "g.36222317C>T" "" "NA" "" "0000046872" "0" "30" "20" "34765995" "34765995" "subst" "0.00207736" "00006" "EPB41L1_000010" "g.34765995G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs77545213" "0" "" "" "g.36178073G>A" "" "likely benign" "" "0000046873" "0" "30" "20" "34770234" "34770234" "subst" "0.00108436" "00006" "EPB41L1_000011" "g.34770234G>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36182312G>T" "" "likely benign" "" "0000046874" "0" "30" "20" "34775727" "34775727" "subst" "0" "00006" "EPB41L1_000012" "g.34775727C>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36187805C>A" "" "likely benign" "" "0000046875" "0" "30" "20" "34782170" "34782170" "subst" "0.000190996" "00006" "EPB41L1_000013" "g.34782170A>G" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36194248A>G" "" "likely benign" "" "0000046876" "0" "30" "20" "34797706" "34797706" "subst" "1.6262E-5" "00006" "EPB41L1_000014" "g.34797706G>C" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36209784G>C" "" "likely benign" "" "0000046877" "0" "30" "20" "34785935" "34785935" "subst" "0.00727588" "00006" "EPB41L1_000015" "g.34785935C>G" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs6089016" "0" "" "" "g.36198013C>G" "" "likely benign" "" "0000046878" "0" "30" "20" "34797675" "34797675" "subst" "0.00103605" "00006" "EPB41L1_000016" "g.34797675G>A" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs78442416" "0" "" "" "g.36209753G>A" "" "likely benign" "" "0000046879" "0" "10" "20" "34773054" "34773054" "subst" "0.00876755" "00006" "EPB41L1_000017" "g.34773054G>C" "5/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs66823537" "0" "" "" "g.36185132G>C" "" "benign" "" "0000046880" "0" "30" "20" "34776481" "34776481" "subst" "0" "00006" "EPB41L1_000018" "g.34776481T>G" "5/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs6060849" "0" "" "" "g.36188559T>G" "" "likely benign" "" "0000046881" "0" "10" "20" "34782171" "34782171" "subst" "0.0479136" "00006" "EPB41L1_000019" "g.34782171T>C" "5/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs2295568" "0" "" "" "g.36194249T>C" "" "benign" "" "0000046882" "0" "10" "20" "34797801" "34797801" "subst" "0.0159128" "00006" "EPB41L1_000020" "g.34797801C>T" "5/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs73101499" "0" "" "" "g.36209879C>T" "" "benign" "" "0000046883" "0" "30" "20" "34800345" "34800345" "subst" "0.0109457" "00006" "EPB41L1_000021" "g.34800345T>C" "5/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs73289652" "0" "" "" "g.36212423T>C" "" "likely benign" "" "0000046951" "0" "30" "20" "34761902" "34761902" "subst" "0" "00006" "EPB41L1_000002" "g.34761902C>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36173980C>A" "" "likely benign" "" "0000046952" "0" "30" "20" "34775692" "34775692" "subst" "0.00260408" "00006" "EPB41L1_000003" "g.34775692C>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36187770C>G" "" "likely benign" "" "0000046953" "0" "30" "20" "34776431" "34776431" "subst" "0.00135701" "00006" "EPB41L1_000004" "g.34776431C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36188509C>T" "" "likely benign" "" "0000046954" "0" "30" "20" "34778353" "34778353" "subst" "0" "00006" "EPB41L1_000005" "g.34778353G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36190431G>A" "" "likely benign" "" "0000046955" "1" "30" "20" "34778601" "34778601" "subst" "0.000434829" "00006" "EPB41L1_000006" "g.34778601G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36190679G>A" "" "likely benign" "" "0000046956" "0" "30" "20" "34797610" "34797610" "subst" "0.00413549" "00006" "EPB41L1_000007" "g.34797610G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs73905303" "0" "" "" "g.36209688G>A" "" "likely benign" "" "0000046957" "1" "30" "20" "34797690" "34797690" "subst" "0.000130041" "00006" "EPB41L1_000008" "g.34797690C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36209768C>T" "" "likely benign" "" "0000046958" "0" "30" "20" "34800363" "34800363" "subst" "0" "00006" "EPB41L1_000009" "g.34800363T>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs73905304" "0" "" "" "g.36212441T>G" "" "likely benign" "" "0000046970" "0" "30" "20" "34765995" "34765995" "subst" "0.00207736" "00006" "EPB41L1_000010" "g.34765995G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs77545213" "0" "" "" "g.36178073G>A" "" "likely benign" "" "0000046971" "1" "30" "20" "34770234" "34770234" "subst" "0.00108436" "00006" "EPB41L1_000011" "g.34770234G>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36182312G>T" "" "likely benign" "" "0000046972" "0" "30" "20" "34775727" "34775727" "subst" "0" "00006" "EPB41L1_000012" "g.34775727C>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36187805C>A" "" "likely benign" "" "0000046973" "1" "30" "20" "34782170" "34782170" "subst" "0.000190996" "00006" "EPB41L1_000013" "g.34782170A>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36194248A>G" "" "likely benign" "" "0000046974" "1" "30" "20" "34797706" "34797706" "subst" "1.6262E-5" "00006" "EPB41L1_000014" "g.34797706G>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36209784G>C" "" "likely benign" "" "0000046975" "0" "30" "20" "34785935" "34785935" "subst" "0.00727588" "00006" "EPB41L1_000015" "g.34785935C>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs6089016" "0" "" "" "g.36198013C>G" "" "likely benign" "" "0000046976" "0" "30" "20" "34797675" "34797675" "subst" "0.00103605" "00006" "EPB41L1_000016" "g.34797675G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs78442416" "0" "" "" "g.36209753G>A" "" "likely benign" "" "0000046977" "0" "10" "20" "34773054" "34773054" "subst" "0.00876755" "00006" "EPB41L1_000017" "g.34773054G>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs66823537" "0" "" "" "g.36185132G>C" "" "benign" "" "0000046978" "0" "30" "20" "34776481" "34776481" "subst" "0" "00006" "EPB41L1_000018" "g.34776481T>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs6060849" "0" "" "" "g.36188559T>G" "" "likely benign" "" "0000046979" "0" "10" "20" "34782171" "34782171" "subst" "0.0479136" "00006" "EPB41L1_000019" "g.34782171T>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs2295568" "0" "" "" "g.36194249T>C" "" "benign" "" "0000046980" "0" "10" "20" "34797801" "34797801" "subst" "0.0159128" "00006" "EPB41L1_000020" "g.34797801C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs73101499" "0" "" "" "g.36209879C>T" "" "benign" "" "0000046981" "0" "30" "20" "34800345" "34800345" "subst" "0.0109457" "00006" "EPB41L1_000021" "g.34800345T>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs73289652" "0" "" "" "g.36212423T>C" "" "likely benign" "" "0000244191" "1" "90" "20" "34797653" "34797653" "subst" "2.03128E-5" "00006" "EPB41L1_000022" "g.34797653C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_001258329: c.C1912T; p.R638C" "" "Germline" "" "" "0" "" "" "g.36209731C>T" "" "pathogenic" "" "0000267847" "0" "30" "20" "34817250" "34817250" "subst" "0.000239972" "02325" "EPB41L1_000025" "g.34817250C>T" "" "" "" "EPB41L1(NM_001258329.1):c.2635-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36229328C>T" "" "likely benign" "" "0000276182" "0" "50" "20" "34778245" "34778245" "subst" "4.0622E-5" "01943" "EPB41L1_000024" "g.34778245G>A" "" "" "" "EPB41L1(NM_001258329.1):c.1073G>A (p.R358Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36190323G>A" "" "VUS" "" "0000342179" "0" "30" "20" "34773062" "34773062" "subst" "4.08617E-6" "02327" "EPB41L1_000026" "g.34773062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36185140G>A" "" "likely benign" "" "0000569505" "0" "50" "20" "34776299" "34776299" "subst" "2.84292E-5" "01804" "EPB41L1_000027" "g.34776299G>A" "" "" "" "EPB41L1(NM_001258329.1):c.904G>A (p.(Val302Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36188377G>A" "" "VUS" "" "0000569507" "0" "50" "20" "34782170" "34782170" "subst" "0.000190996" "02325" "EPB41L1_000013" "g.34782170A>G" "" "" "" "EPB41L1(NM_001258329.1):c.1337A>G (p.H446R), EPB41L1(NM_012156.2):c.1337A>G (p.(His446Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36194248A>G" "" "VUS" "" "0000569509" "0" "30" "20" "34783252" "34783252" "subst" "0.00170194" "02325" "EPB41L1_000030" "g.34783252C>T" "" "" "" "EPB41L1(NM_001258329.1):c.1451C>T (p.P484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36195330C>T" "" "likely benign" "" "0000569510" "0" "30" "20" "34785922" "34785922" "subst" "0" "01804" "EPB41L1_000031" "g.34785922G>C" "" "" "" "EPB41L1(NM_001258329.1):c.1627G>C (p.(Ala543Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36198000G>C" "" "likely benign" "" "0000569511" "0" "30" "20" "34785925" "34785925" "subst" "0" "01804" "EPB41L1_000032" "g.34785925T>A" "" "" "" "EPB41L1(NM_001258329.1):c.1630T>A (p.(Ser544Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36198003T>A" "" "likely benign" "" "0000569512" "0" "30" "20" "34785931" "34785931" "subst" "0" "01804" "EPB41L1_000033" "g.34785931T>A" "" "" "" "EPB41L1(NM_001258329.1):c.1636T>A (p.(Ser546Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36198009T>A" "" "likely benign" "" "0000569514" "0" "30" "20" "34785937" "34785937" "subst" "0" "01804" "EPB41L1_000034" "g.34785937A>C" "" "" "" "EPB41L1(NM_001258329.1):c.1642A>C (p.(Lys548Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36198015A>C" "" "likely benign" "" "0000569515" "0" "30" "20" "34809818" "34809818" "subst" "1.62442E-5" "02325" "EPB41L1_000035" "g.34809818C>T" "" "" "" "EPB41L1(NM_001258329.1):c.2469C>T (p.I823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36221896C>T" "" "likely benign" "" "0000618109" "0" "30" "20" "34797683" "34797683" "subst" "0" "01804" "EPB41L1_000038" "g.34797683A>C" "" "" "" "EPB41L1(NM_001258329.1):c.1942A>C (p.(Ser648Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36209761A>C" "" "likely benign" "" "0000624150" "0" "30" "20" "34776298" "34776298" "subst" "0.000357413" "01943" "EPB41L1_000036" "g.34776298C>T" "" "" "" "EPB41L1(NM_001258329.1):c.903C>T (p.G301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36188376C>T" "" "likely benign" "" "0000624151" "0" "30" "20" "34785922" "34785922" "subst" "1.63364E-5" "01943" "EPB41L1_000037" "g.34785922G>A" "" "" "" "EPB41L1(NM_001258329.1):c.1627G>A (p.A543T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36198000G>A" "" "likely benign" "" "0000650780" "1" "10" "20" "34785935" "34785935" "subst" "0.00727588" "03575" "EPB41L1_000015" "g.34785935C>G" "78/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "78 heterozygous; {DB:CLININrs6089016}" "Germline" "" "rs6089016" "0" "" "" "g.36198013C>G" "" "benign" "" "0000650781" "1" "30" "20" "34797801" "34797801" "subst" "0.0159128" "03575" "EPB41L1_000020" "g.34797801C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs73101499}" "Germline" "" "rs73101499" "0" "" "" "g.36209879C>T" "" "likely benign" "" "0000669671" "3" "10" "20" "34785935" "34785935" "subst" "0.00727588" "03575" "EPB41L1_000015" "g.34785935C>G" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs6089016}" "Germline" "" "rs6089016" "0" "" "" "g.36198013C>G" "" "benign" "" "0000787273" "0" "50" "20" "34797458" "34797458" "subst" "0" "00006" "EPB41L1_000039" "g.34797458C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.36209536C>A" "" "VUS" "" "0000809231" "0" "30" "20" "34806805" "34806805" "subst" "9.36551E-5" "02325" "EPB41L1_000040" "g.34806805G>A" "" "" "" "EPB41L1(NM_012156.2):c.2276G>A (p.S759N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809232" "0" "30" "20" "34807716" "34807716" "subst" "8.12209E-6" "01943" "EPB41L1_000041" "g.34807716G>A" "" "" "" "EPB41L1(NM_001258329.1):c.2386G>A (p.G796S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983787" "0" "30" "20" "34765884" "34765884" "subst" "5.68861E-5" "01804" "EPB41L1_000042" "g.34765884G>A" "" "" "" "EPB41L1(NM_012156.2):c.353G>A (p.(Arg118Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983788" "0" "30" "20" "34773235" "34773235" "subst" "4.90777E-5" "01804" "EPB41L1_000043" "g.34773235A>G" "" "" "" "EPB41L1(NM_012156.2):c.763A>G (p.(Met255Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983789" "0" "30" "20" "34782170" "34782170" "subst" "0.000190996" "01804" "EPB41L1_000013" "g.34782170A>G" "" "" "" "EPB41L1(NM_001258329.1):c.1337A>G (p.H446R), EPB41L1(NM_012156.2):c.1337A>G (p.(His446Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983790" "0" "30" "20" "34797219" "34797220" "ins" "0" "01804" "EPB41L1_000044" "g.34797219_34797220insG" "" "" "" "EPB41L1(NM_012156.2):c.1669-191_1669-190insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983791" "0" "30" "20" "34807726" "34807726" "subst" "4.06101E-5" "01804" "EPB41L1_000045" "g.34807726C>T" "" "" "" "EPB41L1(NM_012156.2):c.2399C>T (p.(Ala800Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005356" "0" "30" "20" "34785889" "34785889" "subst" "1.62537E-5" "01804" "EPB41L1_000046" "g.34785889T>G" "" "" "" "EPB41L1(NM_001258329.1):c.1594T>G (p.(Trp532Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005357" "0" "30" "20" "34797462" "34797462" "subst" "8.12929E-6" "01804" "EPB41L1_000047" "g.34797462G>A" "" "" "" "EPB41L1(NM_001258329.1):c.1721G>A (p.(Arg574Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005358" "0" "50" "20" "34797474" "34797474" "subst" "0" "01804" "EPB41L1_000048" "g.34797474G>A" "" "" "" "EPB41L1(NM_012156.2):c.1733G>A (p.(Ser578Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005359" "0" "30" "20" "34797632" "34797632" "subst" "8.12407E-6" "01804" "EPB41L1_000049" "g.34797632A>G" "" "" "" "EPB41L1(NM_001258329.1):c.1891A>G (p.(Ser631Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005360" "0" "50" "20" "34800243" "34800243" "subst" "0" "01804" "EPB41L1_000050" "g.34800243A>G" "" "" "" "EPB41L1(NM_012156.2):c.2129A>G (p.(Lys710Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005361" "0" "30" "20" "34800252" "34800252" "subst" "2.43639E-5" "01804" "EPB41L1_000051" "g.34800252C>T" "" "" "" "EPB41L1(NM_012156.2):c.2138C>T (p.(Pro713Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043330" "0" "30" "20" "34773126" "34773126" "subst" "1.62798E-5" "01804" "EPB41L1_000052" "g.34773126C>T" "" "" "" "EPB41L1(NM_012156.2):c.654C>T (p.(Tyr218=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043331" "0" "30" "20" "34775588" "34775588" "subst" "0.000142759" "01804" "EPB41L1_000053" "g.34775588T>C" "" "" "" "EPB41L1(NM_012156.2):c.786-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043332" "0" "50" "20" "34785878" "34785878" "subst" "1.21865E-5" "01804" "EPB41L1_000054" "g.34785878G>A" "" "" "" "EPB41L1(NM_012156.2):c.1583G>A (p.(Arg528Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043333" "0" "30" "20" "34798970" "34798970" "subst" "0" "01804" "EPB41L1_000055" "g.34798970G>T" "" "" "" "EPB41L1(NM_012156.2):c.2079+1150G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 EPB41L1 ## Count = 70 "{{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}}" "0000046863" "00007140" "90" "2560" "0" "2560" "0" "c.2560C>T" "r.(?)" "p.(Pro854Ser)" "" "0000046864" "00007140" "90" "2560" "0" "2560" "0" "c.2560C>T" "r.(?)" "p.Pro854Ser" "" "0000046872" "00007140" "30" "447" "17" "447" "17" "c.447+17G>A" "r.(=)" "p.(=)" "i" "0000046873" "00007140" "30" "531" "0" "531" "0" "c.531G>T" "r.(?)" "p.(Pro177=)" "" "0000046874" "00007140" "30" "873" "42" "873" "42" "c.873+42C>A" "r.(=)" "p.(=)" "i" "0000046875" "00007140" "30" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(His446Arg)" "" "0000046876" "00007140" "30" "1965" "0" "1965" "0" "c.1965G>C" "r.(?)" "p.(Leu655=)" "" "0000046877" "00007140" "30" "1640" "0" "1640" "0" "c.1640C>G" "r.(?)" "p.(Pro547Arg)" "" "0000046878" "00007140" "30" "1934" "0" "1934" "0" "c.1934G>A" "r.(?)" "p.(Arg645Gln)" "" "0000046879" "00007140" "10" "582" "0" "582" "0" "c.582G>C" "r.(?)" "p.(Leu194=)" "" "0000046880" "00007140" "30" "1026" "60" "1026" "60" "c.1026+60T>G" "r.(=)" "p.(=)" "i" "0000046881" "00007140" "10" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(His446=)" "" "0000046882" "00007140" "10" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Pro687Leu)" "" "0000046883" "00007140" "30" "2184" "47" "2184" "47" "c.2184+47T>C" "r.(=)" "p.(=)" "i" "0000046951" "00007140" "30" "177" "26" "177" "26" "c.177+26C>A" "r.(=)" "p.(=)" "I" "0000046952" "00007140" "30" "873" "7" "873" "7" "c.873+7C>G" "r.(=)" "p.(=)" "I" "0000046953" "00007140" "30" "1026" "10" "1026" "10" "c.1026+10C>T" "r.(=)" "p.(=)" "I" "0000046954" "00007140" "30" "1124" "57" "1124" "57" "c.1124+57G>A" "r.(=)" "p.(=)" "I" "0000046955" "00007140" "30" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Arg394=)" "" "0000046956" "00007140" "30" "1869" "0" "1869" "0" "c.1869G>A" "r.(?)" "p.(Thr623=)" "" "0000046957" "00007140" "30" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Ser650Leu)" "" "0000046958" "00007140" "30" "2184" "65" "2184" "65" "c.2184+65T>G" "r.(=)" "p.(=)" "I" "0000046970" "00007140" "30" "447" "17" "447" "17" "c.447+17G>A" "r.(=)" "p.(=)" "i" "0000046971" "00007140" "30" "531" "0" "531" "0" "c.531G>T" "r.(?)" "p.(Pro177=)" "" "0000046972" "00007140" "30" "873" "42" "873" "42" "c.873+42C>A" "r.(=)" "p.(=)" "i" "0000046973" "00007140" "30" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(His446Arg)" "" "0000046974" "00007140" "30" "1965" "0" "1965" "0" "c.1965G>C" "r.(?)" "p.(Leu655=)" "" "0000046975" "00007140" "30" "1640" "0" "1640" "0" "c.1640C>G" "r.(?)" "p.(Pro547Arg)" "" "0000046976" "00007140" "30" "1934" "0" "1934" "0" "c.1934G>A" "r.(?)" "p.(Arg645Gln)" "" "0000046977" "00007140" "10" "582" "0" "582" "0" "c.582G>C" "r.(?)" "p.(Leu194=)" "" "0000046978" "00007140" "30" "1026" "60" "1026" "60" "c.1026+60T>G" "r.(=)" "p.(=)" "i" "0000046979" "00007140" "10" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(His446=)" "" "0000046980" "00007140" "10" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Pro687Leu)" "" "0000046981" "00007140" "30" "2184" "47" "2184" "47" "c.2184+47T>C" "r.(=)" "p.(=)" "i" "0000244191" "00007140" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638Cys)" "15" "0000267847" "00007140" "30" "2638" "-4" "2638" "-4" "c.2638-4C>T" "r.spl?" "p.?" "" "0000276182" "00007140" "50" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358Gln)" "" "0000342179" "00007140" "30" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197Gln)" "" "0000569505" "00007140" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Val302Ile)" "" "0000569507" "00007140" "50" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(His446Arg)" "" "0000569509" "00007140" "30" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Pro484Leu)" "" "0000569510" "00007140" "30" "1627" "0" "1627" "0" "c.1627G>C" "r.(?)" "p.(Ala543Pro)" "" "0000569511" "00007140" "30" "1630" "0" "1630" "0" "c.1630T>A" "r.(?)" "p.(Ser544Thr)" "" "0000569512" "00007140" "30" "1636" "0" "1636" "0" "c.1636T>A" "r.(?)" "p.(Ser546Thr)" "" "0000569514" "00007140" "30" "1642" "0" "1642" "0" "c.1642A>C" "r.(?)" "p.(Lys548Gln)" "" "0000569515" "00007140" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Ile824=)" "" "0000618109" "00007140" "30" "1942" "0" "1942" "0" "c.1942A>C" "r.(?)" "p.(Ser648Arg)" "" "0000624150" "00007140" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(Gly301=)" "" "0000624151" "00007140" "30" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Ala543Thr)" "" "0000650780" "00007140" "10" "1640" "0" "1640" "0" "c.1640C>G" "r.(?)" "p.(Pro547Arg)" "" "0000650781" "00007140" "30" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Pro687Leu)" "" "0000669671" "00007140" "10" "1640" "0" "1640" "0" "c.1640C>G" "r.(?)" "p.(Pro547Arg)" "" "0000787273" "00007140" "50" "1717" "0" "1717" "0" "c.1717C>A" "r.(?)" "p.(Pro573Thr)" "15" "0000809231" "00007140" "30" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Ser759Asn)" "" "0000809232" "00007140" "30" "2389" "0" "2389" "0" "c.2389G>A" "r.(?)" "p.(Gly797Ser)" "" "0000983787" "00007140" "30" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "" "0000983788" "00007140" "30" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" "" "0000983789" "00007140" "30" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(His446Arg)" "" "0000983790" "00007140" "30" "1669" "-191" "1669" "-190" "c.1669-191_1669-190insG" "r.(=)" "p.(=)" "" "0000983791" "00007140" "30" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Ala800Val)" "" "0001005356" "00007140" "30" "1594" "0" "1594" "0" "c.1594T>G" "r.(?)" "p.(Trp532Gly)" "" "0001005357" "00007140" "30" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Arg574Gln)" "" "0001005358" "00007140" "50" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Ser578Asn)" "" "0001005359" "00007140" "30" "1891" "0" "1891" "0" "c.1891A>G" "r.(?)" "p.(Ser631Gly)" "" "0001005360" "00007140" "50" "2129" "0" "2129" "0" "c.2129A>G" "r.(?)" "p.(Lys710Arg)" "" "0001005361" "00007140" "30" "2138" "0" "2138" "0" "c.2138C>T" "r.(?)" "p.(Pro713Leu)" "" "0001043330" "00007140" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Tyr218=)" "" "0001043331" "00007140" "30" "786" "-10" "786" "-10" "c.786-10T>C" "r.(=)" "p.(=)" "" "0001043332" "00007140" "50" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528Gln)" "" "0001043333" "00007140" "30" "2079" "1150" "2079" "1150" "c.2079+1150G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000024265" "0000046863" "0000024267" "0000046872" "0000024267" "0000046873" "0000024267" "0000046874" "0000024267" "0000046875" "0000024267" "0000046876" "0000024267" "0000046877" "0000024267" "0000046878" "0000024267" "0000046879" "0000024267" "0000046880" "0000024267" "0000046881" "0000024267" "0000046882" "0000024267" "0000046883" "0000024268" "0000046951" "0000024268" "0000046952" "0000024268" "0000046953" "0000024268" "0000046954" "0000024268" "0000046955" "0000024268" "0000046956" "0000024268" "0000046957" "0000024268" "0000046958" "0000024268" "0000046970" "0000024268" "0000046971" "0000024268" "0000046972" "0000024268" "0000046973" "0000024268" "0000046974" "0000024268" "0000046975" "0000024268" "0000046976" "0000024268" "0000046977" "0000024268" "0000046978" "0000024268" "0000046979" "0000024268" "0000046980" "0000024268" "0000046981" "0000151029" "0000244191" "0000294091" "0000650780" "0000294092" "0000650781" "0000305983" "0000669671" "0000375922" "0000787273"