### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MIB1) # 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}}" "MIB1" "mindbomb E3 ubiquitin protein ligase 1" "18" "q11.2" "unknown" "NC_000018.9" "UD_132378684327" "" "http://www.LOVD.nl/MIB1" "" "1" "21086" "57534" "608677" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MIB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-27 02:40:33" "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}}" "00024079" "MIB1" "mindbomb E3 ubiquitin protein ligase 1" "001" "NM_020774.3" "" "NP_065825.1" "" "" "" "-255" "9312" "3021" "19321290" "19450918" "00006" "2015-11-27 02:38:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "03828" "LVNC7" "ventricular noncompaction, left, type 7 (LVNC-7)" "AD" "615092" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MIB1" "03828" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00054835" "" "" "" "1" "" "00719" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "F" "" "" "" "0" "" "" "" "26757981-Pat1" "00128418" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "145" "00177082" "" "" "" "1" "" "02552" "" "mother German, father Swiss/Ghanaian" "M" "no" "Germany;Ghana;Switzerland" "" "0" "" "" "" "73450" "00183055" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio40" "00291912" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320308" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "CPC1" "00453202" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam410Pat442" "00453203" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam399Pat431" "00453722" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV326" "00453723" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV816" "00453724" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV927" "00461002" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00054835" "00139" "00128418" "00198" "00177082" "00344" "00183055" "00139" "00291912" "00198" "00320308" "04172" "00453202" "04172" "00453203" "04172" "00453722" "00152" "00453723" "00152" "00453724" "00152" "00461002" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 00344, 03828, 04172 ## Count = 11 "{{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}}" "0000041511" "00139" "00054835" "00719" "Isolated (sporadic)" "22y" "Severe ID; Absence of speech; Motor delay; Sleep disturbances; automutilation; Epilepsy; Toe walking; normal vision; abnormal breathing pattern; neonatal feeding problems; hernia diafragmatica; pubertas tarda; nromal MRI; born after 42w of uncomplicated pregnancy; severe intellectual disability (HP:0010864); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000100636" "00198" "00128418" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100637" "00198" "00128418" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000141877" "00344" "00177082" "02552" "Unknown" "" "HP:0008936\r\nHP:0002066\r\nHP:0011220\r\nHP:0008070\r\nHP:0002761\r\nHP:0001763" "02y" "" "" "" "" "" "" "" "" "" "" "0000143808" "00139" "00183055" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000242336" "04172" "00320308" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341848" "04172" "00453202" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341849" "04172" "00453203" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000342379" "00152" "00453722" "00006" "Unknown" "" "aortic valve replacement (ross), ascending aortic replacement" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342380" "00152" "00453723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342381" "00152" "00453724" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054785" "00054835" "1" "00719" "00719" "2015-11-26 16:45:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000129256" "00128418" "1" "02244" "02244" "2017-09-15 16:16:31" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000177978" "00177082" "1" "02552" "02552" "2018-08-17 14:11:42" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000184015" "00183055" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293080" "00291912" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321494" "00320308" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454813" "00453202" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454814" "00453203" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000455334" "00453722" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455335" "00453723" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455336" "00453724" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462634" "00461002" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000321494" "CAV3" "0000321494" "MIB1" "0000462634" "MIB1" ## 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 = 303 "{{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}}" "0000084798" "0" "50" "18" "19348703" "19348703" "subst" "2.86594E-5" "00719" "MIB1_000001" "g.19348703G>A" "" "{PMID:Lugtenberg 2016:26757981}, {DOI:Lugtenberg 2016:10.1038/ejhg.2015.282}" "" "" "" "De novo" "" "" "0" "" "" "g.21768742G>A" "" "VUS" "" "0000218401" "0" "50" "18" "19353603" "19353603" "subst" "0" "02244" "MIB1_000002" "g.19353603T>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.21773642T>G" "" "VUS" "" "0000247494" "0" "10" "18" "19383993" "19383993" "subst" "0.0179765" "02330" "MIB1_000031" "g.19383993A>G" "" "" "" "MIB1(NM_020774.3):c.1479+18A>G, MIB1(NM_020774.4):c.1479+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21804032A>G" "" "benign" "" "0000247495" "0" "10" "18" "19418475" "19418475" "subst" "0.00200086" "02330" "MIB1_000038" "g.19418475A>G" "" "" "" "MIB1(NM_020774.3):c.1962+17A>G, MIB1(NM_020774.4):c.1962+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838514A>G" "" "benign" "" "0000247496" "0" "10" "18" "19353696" "19353696" "subst" "4.65164E-5" "02330" "MIB1_000012" "g.19353696A>C" "" "" "" "MIB1(NM_020774.3):c.636+7A>C, MIB1(NM_020774.4):c.636+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21773735A>C" "" "benign" "" "0000247498" "0" "10" "18" "19359581" "19359581" "subst" "0.000519881" "02330" "MIB1_000066" "g.19359581A>T" "" "" "" "MIB1(NM_020774.3):c.843A>T (p.T281=), MIB1(NM_020774.4):c.843A>T (p.T281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779620A>T" "" "benign" "" "0000247508" "0" "50" "18" "19378177" "19378177" "subst" "8.14438E-6" "02330" "MIB1_000023" "g.19378177A>G" "" "" "" "MIB1(NM_020774.3):c.1225A>G (p.N409D), MIB1(NM_020774.4):c.1225A>G (p.N409D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798216A>G" "" "VUS" "" "0000247513" "0" "10" "18" "19371479" "19371479" "subst" "0" "02330" "MIB1_000020" "g.19371479A>G" "" "" "" "MIB1(NM_020774.4):c.1053A>G (p.L351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21791518A>G" "" "benign" "" "0000247514" "0" "10" "18" "19379923" "19379923" "subst" "0" "02330" "MIB1_000027" "g.19379923A>G" "" "" "" "MIB1(NM_020774.4):c.1359A>G (p.R453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21799962A>G" "" "benign" "" "0000247530" "0" "10" "18" "19321787" "19321787" "subst" "0.000137971" "02330" "MIB1_000007" "g.19321787A>G" "" "" "" "MIB1(NM_020774.4):c.229+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21741826A>G" "" "benign" "" "0000247531" "0" "10" "18" "19359654" "19359654" "subst" "0" "02330" "MIB1_000019" "g.19359654A>G" "" "" "" "MIB1(NM_020774.4):c.908+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779693A>G" "" "benign" "" "0000247532" "0" "10" "18" "19424038" "19424038" "subst" "0.000158865" "02330" "MIB1_000043" "g.19424038A>C" "" "" "" "MIB1(NM_020774.4):c.2050-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844077A>C" "" "benign" "" "0000247540" "0" "10" "18" "19427015" "19427015" "subst" "6.90529E-5" "02330" "MIB1_000068" "g.19427015A>G" "" "" "" "MIB1(NM_020774.4):c.2322A>G (p.Q774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847054A>G" "" "benign" "" "0000247543" "0" "50" "18" "19426978" "19426978" "subst" "4.06144E-6" "02330" "MIB1_000047" "g.19426978A>G" "" "" "" "MIB1(NM_020774.4):c.2285A>G (p.N762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847017A>G" "" "VUS" "" "0000247549" "0" "50" "18" "19379939" "19379939" "subst" "0" "02330" "MIB1_000028" "g.19379939A>C" "" "" "" "MIB1(NM_020774.4):c.1371+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21799978A>C" "" "VUS" "" "0000249408" "0" "30" "18" "19424124" "19424124" "subst" "0.000361553" "02325" "MIB1_000045" "g.19424124A>G" "" "" "" "MIB1(NM_020774.4):c.2121A>G (p.L707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844163A>G" "" "likely benign" "" "0000249574" "0" "30" "18" "19399438" "19399438" "del" "0" "02325" "MIB1_000034" "g.19399438del" "" "" "" "MIB1(NM_020774.4):c.1678-18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21819477del" "" "likely benign" "" "0000249606" "0" "70" "18" "19423123" "19423123" "del" "0" "02325" "MIB1_000040" "g.19423123del" "" "" "" "MIB1(NM_020774.4):c.1994delA (p.N665Tfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21843162del" "" "likely pathogenic" "" "0000249787" "0" "50" "18" "19379886" "19379886" "subst" "4.0781E-6" "02325" "MIB1_000026" "g.19379886A>C" "" "" "" "MIB1(NM_020774.3):c.1322A>C (p.(Asn441Thr), p.N441T), MIB1(NM_020774.4):c.1322A>C (p.N441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21799925A>C" "" "VUS" "" "0000250791" "0" "30" "18" "19353696" "19353696" "subst" "4.65164E-5" "02326" "MIB1_000012" "g.19353696A>C" "" "" "" "MIB1(NM_020774.3):c.636+7A>C, MIB1(NM_020774.4):c.636+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21773735A>C" "" "likely benign" "" "0000251812" "0" "30" "18" "19427000" "19427000" "subst" "1.62468E-5" "02326" "MIB1_000049" "g.19427000A>G" "" "" "" "MIB1(NM_020774.3):c.2307A>G (p.R769=), MIB1(NM_020774.4):c.2307A>G (p.R769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847039A>G" "" "likely benign" "" "0000252304" "0" "30" "18" "19378025" "19378025" "subst" "6.93091E-5" "02326" "MIB1_000067" "g.19378025A>G" "" "" "" "MIB1(NM_020774.3):c.1093-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798064A>G" "" "likely benign" "" "0000252642" "0" "50" "18" "19378177" "19378177" "subst" "8.14438E-6" "02326" "MIB1_000023" "g.19378177A>G" "" "" "" "MIB1(NM_020774.3):c.1225A>G (p.N409D), MIB1(NM_020774.4):c.1225A>G (p.N409D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798216A>G" "" "VUS" "" "0000253424" "0" "10" "18" "19383993" "19383993" "subst" "0.0179765" "01943" "MIB1_000031" "g.19383993A>G" "" "" "" "MIB1(NM_020774.3):c.1479+18A>G, MIB1(NM_020774.4):c.1479+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21804032A>G" "" "benign" "" "0000253425" "0" "10" "18" "19418475" "19418475" "subst" "0.00200086" "01943" "MIB1_000038" "g.19418475A>G" "" "" "" "MIB1(NM_020774.3):c.1962+17A>G, MIB1(NM_020774.4):c.1962+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838514A>G" "" "benign" "" "0000254010" "0" "30" "18" "19353696" "19353696" "subst" "4.65164E-5" "01943" "MIB1_000012" "g.19353696A>C" "" "" "" "MIB1(NM_020774.3):c.636+7A>C, MIB1(NM_020774.4):c.636+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21773735A>C" "" "likely benign" "" "0000254146" "0" "30" "18" "19359581" "19359581" "subst" "0.000519881" "01943" "MIB1_000066" "g.19359581A>T" "" "" "" "MIB1(NM_020774.3):c.843A>T (p.T281=), MIB1(NM_020774.4):c.843A>T (p.T281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779620A>T" "" "likely benign" "" "0000279757" "0" "50" "18" "19378159" "19378159" "subst" "0" "02330" "MIB1_000022" "g.19378159G>T" "" "" "" "MIB1(NM_020774.3):c.1207G>T (p.A403S), MIB1(NM_020774.4):c.1207G>T (p.A403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798198G>T" "" "VUS" "" "0000279758" "0" "10" "18" "19321682" "19321682" "subst" "1.25688E-5" "02330" "MIB1_000005" "g.19321682G>A" "" "" "" "MIB1(NM_020774.3):c.138G>A (p.E46=), MIB1(NM_020774.4):c.138G>A (p.E46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21741721G>A" "" "benign" "" "0000279759" "0" "10" "18" "19383966" "19383966" "subst" "9.36139E-5" "02330" "MIB1_000030" "g.19383966C>T" "" "" "" "MIB1(NM_020774.3):c.1470C>T (p.V490=), MIB1(NM_020774.4):c.1470C>T (p.V490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21804005C>T" "" "benign" "" "0000279760" "0" "70" "18" "19395685" "19395685" "subst" "3.65663E-5" "02330" "MIB1_000033" "g.19395685C>T" "" "" "" "MIB1(NM_020774.3):c.1588C>T (p.R530*), MIB1(NM_020774.4):c.1588C>T (p.R530*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21815724C>T" "" "likely pathogenic" "" "0000279761" "0" "10" "18" "19321724" "19321724" "subst" "8.11903E-5" "02330" "MIB1_000006" "g.19321724C>T" "" "" "" "MIB1(NM_020774.3):c.180C>T (p.Y60=), MIB1(NM_020774.4):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21741763C>T" "" "benign" "" "0000279762" "0" "10" "18" "19418308" "19418308" "subst" "0.000180009" "02330" "MIB1_000036" "g.19418308T>C" "" "" "" "MIB1(NM_020774.3):c.1830-18T>C, MIB1(NM_020774.4):c.1830-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838347T>C" "" "benign" "" "0000279763" "0" "10" "18" "19423086" "19423086" "subst" "0.00134125" "02330" "MIB1_000039" "g.19423086G>A" "" "" "" "MIB1(NM_020774.3):c.1963-6G>A, MIB1(NM_020774.4):c.1963-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21843125G>A" "" "benign" "" "0000279764" "0" "10" "18" "19427030" "19427030" "subst" "0.000324963" "02330" "MIB1_000050" "g.19427030C>T" "" "" "" "MIB1(NM_020774.3):c.2337C>T (p.L779=), MIB1(NM_020774.4):c.2337C>T (p.L779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847069C>T" "" "benign" "" "0000279765" "0" "10" "18" "19429208" "19429208" "subst" "7.40796E-5" "02330" "MIB1_000052" "g.19429208C>G" "" "" "" "MIB1(NM_020774.3):c.2445C>G (p.T815=), MIB1(NM_020774.4):c.2445C>G (p.T815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21849247C>G" "" "benign" "" "0000279766" "0" "10" "18" "19437101" "19437101" "subst" "0.000658119" "02330" "MIB1_000058" "g.19437101C>T" "" "" "" "MIB1(NM_020774.4):c.2676C>T (p.N892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21857140C>T" "" "benign" "" "0000279768" "0" "10" "18" "19438613" "19438615" "del" "0" "02330" "MIB1_000062" "g.19438613_19438615del" "" "" "" "MIB1(NM_020774.4):c.2880+6_2880+8delAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21858652_21858654del" "" "benign" "" "0000279769" "0" "10" "18" "19353656" "19353656" "subst" "0.00019657" "02330" "MIB1_000011" "g.19353656T>G" "" "" "" "MIB1(NM_020774.3):c.603T>G (p.A201=), MIB1(NM_020774.4):c.603T>G (p.A201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21773695T>G" "" "benign" "" "0000279770" "0" "50" "18" "19358101" "19358101" "subst" "4.0714E-6" "02330" "MIB1_000015" "g.19358101C>G" "" "" "" "MIB1(NM_020774.3):c.674C>G (p.S225C, p.(Ser225Cys)), MIB1(NM_020774.4):c.674C>G (p.S225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21778140C>G" "" "VUS" "" "0000279771" "0" "10" "18" "19359474" "19359474" "subst" "0.00024378" "02330" "MIB1_000016" "g.19359474T>C" "" "" "" "MIB1(NM_020774.3):c.736T>C (p.L246=), MIB1(NM_020774.4):c.736T>C (p.L246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779513T>C" "" "benign" "" "0000279772" "0" "10" "18" "19359506" "19359506" "subst" "1.2187E-5" "02330" "MIB1_000018" "g.19359506C>T" "" "" "" "MIB1(NM_020774.4):c.768C>T (p.L256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779545C>T" "" "benign" "" "0000279773" "0" "50" "18" "19321625" "19321625" "del" "0" "02330" "MIB1_000003" "g.19321625del" "" "" "" "MIB1(NM_020774.4):c.81delG (p.K28Sfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21741664del" "" "VUS" "" "0000282492" "0" "30" "18" "19378062" "19378062" "subst" "0" "02325" "MIB1_000021" "g.19378062C>A" "" "" "" "MIB1(NM_020774.4):c.1110C>A (p.G370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798101C>A" "" "likely benign" "" "0000282493" "0" "50" "18" "19378159" "19378159" "subst" "0" "02325" "MIB1_000022" "g.19378159G>T" "" "" "" "MIB1(NM_020774.3):c.1207G>T (p.A403S), MIB1(NM_020774.4):c.1207G>T (p.A403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798198G>T" "" "VUS" "" "0000282494" "0" "30" "18" "19321682" "19321682" "subst" "1.25688E-5" "02325" "MIB1_000005" "g.19321682G>A" "" "" "" "MIB1(NM_020774.3):c.138G>A (p.E46=), MIB1(NM_020774.4):c.138G>A (p.E46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21741721G>A" "" "likely benign" "" "0000282495" "0" "90" "18" "19383913" "19383913" "subst" "8.13233E-6" "02325" "MIB1_000029" "g.19383913C>T" "" "" "" "MIB1(NM_020774.4):c.1417C>T (p.Q473*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21803952C>T" "" "pathogenic" "" "0000282496" "0" "50" "18" "19399501" "19399501" "subst" "4.08397E-6" "02325" "MIB1_000035" "g.19399501C>T" "" "" "" "MIB1(NM_020774.4):c.1723C>T (p.R575C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21819540C>T" "" "VUS" "" "0000282497" "0" "30" "18" "19418308" "19418308" "subst" "0.000180009" "02325" "MIB1_000036" "g.19418308T>C" "" "" "" "MIB1(NM_020774.3):c.1830-18T>C, MIB1(NM_020774.4):c.1830-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838347T>C" "" "likely benign" "" "0000282498" "0" "70" "18" "19424101" "19424101" "del" "0" "02325" "MIB1_000044" "g.19424101del" "" "" "" "MIB1(NM_020774.4):c.2098delG (p.D700Ifs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844140del" "" "likely pathogenic" "" "0000282499" "0" "30" "18" "19426988" "19426988" "subst" "4.0618E-5" "02325" "MIB1_000048" "g.19426988C>T" "" "" "" "MIB1(NM_020774.4):c.2295C>T (p.D765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847027C>T" "" "likely benign" "" "0000282500" "0" "30" "18" "19437171" "19437171" "subst" "7.71567E-5" "02325" "MIB1_000059" "g.19437171G>A" "" "" "" "MIB1(NM_020774.4):c.2746G>A (p.G916R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21857210G>A" "" "likely benign" "" "0000282502" "0" "70" "18" "19348671" "19348671" "subst" "0" "02325" "MIB1_000009" "g.19348671G>A" "" "" "" "MIB1(NM_020774.4):c.489G>A (p.W163*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21768710G>A" "" "likely pathogenic" "" "0000282503" "0" "30" "18" "19321634" "19321634" "subst" "0" "02325" "MIB1_000004" "g.19321634C>T" "" "" "" "MIB1(NM_020774.4):c.90C>T (p.D30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21741673C>T" "" "likely benign" "" "0000286577" "0" "30" "18" "19383966" "19383966" "subst" "9.36139E-5" "02326" "MIB1_000030" "g.19383966C>T" "" "" "" "MIB1(NM_020774.3):c.1470C>T (p.V490=), MIB1(NM_020774.4):c.1470C>T (p.V490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21804005C>T" "" "likely benign" "" "0000286578" "0" "70" "18" "19395685" "19395685" "subst" "3.65663E-5" "02326" "MIB1_000033" "g.19395685C>T" "" "" "" "MIB1(NM_020774.3):c.1588C>T (p.R530*), MIB1(NM_020774.4):c.1588C>T (p.R530*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21815724C>T" "" "likely pathogenic" "" "0000286579" "0" "50" "18" "19437094" "19437094" "subst" "0" "02326" "MIB1_000057" "g.19437094G>C" "" "" "" "MIB1(NM_020774.3):c.2669G>C (p.C890S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21857133G>C" "" "VUS" "" "0000286580" "0" "50" "18" "19345892" "19345892" "subst" "1.62566E-5" "02326" "MIB1_000008" "g.19345892C>T" "" "" "" "MIB1(NM_020774.3):c.389C>T (p.P130L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21765931C>T" "" "VUS" "" "0000286581" "0" "30" "18" "19348727" "19348727" "subst" "0" "02326" "MIB1_000010" "g.19348727C>G" "" "" "" "MIB1(NM_020774.3):c.531+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21768766C>G" "" "likely benign" "" "0000286582" "0" "30" "18" "19353708" "19353708" "subst" "0" "02326" "MIB1_000013" "g.19353708T>C" "" "" "" "MIB1(NM_020774.3):c.636+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21773747T>C" "" "likely benign" "" "0000291795" "0" "50" "18" "19378159" "19378159" "subst" "0" "01943" "MIB1_000022" "g.19378159G>T" "" "" "" "MIB1(NM_020774.3):c.1207G>T (p.A403S), MIB1(NM_020774.4):c.1207G>T (p.A403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798198G>T" "" "VUS" "" "0000291796" "0" "70" "18" "19379813" "19379813" "subst" "0" "01943" "MIB1_000025" "g.19379813C>T" "" "" "" "MIB1(NM_020774.3):c.1249C>T (p.Q417*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21799852C>T" "" "likely pathogenic" "" "0000291797" "0" "30" "18" "19383966" "19383966" "subst" "9.36139E-5" "01943" "MIB1_000030" "g.19383966C>T" "" "" "" "MIB1(NM_020774.3):c.1470C>T (p.V490=), MIB1(NM_020774.4):c.1470C>T (p.V490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21804005C>T" "" "likely benign" "" "0000291798" "0" "30" "18" "19395627" "19395627" "subst" "4.06342E-5" "01943" "MIB1_000032" "g.19395627C>T" "" "" "" "MIB1(NM_020774.3):c.1530C>T (p.G510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21815666C>T" "" "likely benign" "" "0000291799" "0" "10" "18" "19418308" "19418308" "subst" "0.000180009" "01943" "MIB1_000036" "g.19418308T>C" "" "" "" "MIB1(NM_020774.3):c.1830-18T>C, MIB1(NM_020774.4):c.1830-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838347T>C" "" "benign" "" "0000291800" "0" "10" "18" "19423086" "19423086" "subst" "0.00134125" "01943" "MIB1_000039" "g.19423086G>A" "" "" "" "MIB1(NM_020774.3):c.1963-6G>A, MIB1(NM_020774.4):c.1963-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21843125G>A" "" "benign" "" "0000291801" "0" "50" "18" "19423128" "19423128" "subst" "0" "01943" "MIB1_000041" "g.19423128C>A" "" "" "" "MIB1(NM_020774.3):c.1999C>A (p.Q667K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21843167C>A" "" "VUS" "" "0000291802" "0" "50" "18" "19423155" "19423155" "subst" "9.10613E-5" "01943" "MIB1_000042" "g.19423155C>T" "" "" "" "MIB1(NM_020774.3):c.2026C>T (p.R676*), MIB1(NM_020774.4):c.2026C>T (p.R676*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21843194C>T" "" "VUS" "" "0000291803" "0" "30" "18" "19424142" "19424142" "subst" "5.28133E-5" "01943" "MIB1_000046" "g.19424142T>C" "" "" "" "MIB1(NM_020774.3):c.2139T>C (p.S713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844181T>C" "" "likely benign" "" "0000291804" "0" "30" "18" "19427030" "19427030" "subst" "0.000324963" "01943" "MIB1_000050" "g.19427030C>T" "" "" "" "MIB1(NM_020774.3):c.2337C>T (p.L779=), MIB1(NM_020774.4):c.2337C>T (p.L779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21847069C>T" "" "likely benign" "" "0000291805" "0" "50" "18" "19429168" "19429168" "subst" "4.69184E-5" "01943" "MIB1_000051" "g.19429168G>A" "" "" "" "MIB1(NM_020774.3):c.2405G>A (p.G802D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21849207G>A" "" "VUS" "" "0000291806" "0" "50" "18" "19429231" "19429235" "del" "0" "01943" "MIB1_000053" "g.19429231_19429235del" "" "" "" "MIB1(NM_020774.3):c.2468_2472delCAGAT (p.S823Yfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21849270_21849274del" "" "VUS" "" "0000291807" "0" "70" "18" "19429293" "19429295" "delins" "0" "01943" "MIB1_000054" "g.19429293_19429295delinsC" "" "" "" "MIB1(NM_020774.3):c.2530_2532delTCTinsC (p.S844Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21849332_21849334delinsC" "" "likely pathogenic" "" "0000291808" "0" "30" "18" "19429343" "19429343" "subst" "8.74906E-6" "01943" "MIB1_000055" "g.19429343G>A" "" "" "" "MIB1(NM_020774.3):c.2580G>A (p.R860=), MIB1(NM_020774.4):c.2580G>A (p.R860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21849382G>A" "" "likely benign" "" "0000291810" "0" "30" "18" "19437212" "19437212" "subst" "0.000252102" "01943" "MIB1_000060" "g.19437212G>A" "" "" "" "MIB1(NM_020774.3):c.2779+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21857251G>A" "" "likely benign" "" "0000291812" "0" "30" "18" "19358056" "19358056" "subst" "0" "01943" "MIB1_000014" "g.19358056C>G" "" "" "" "MIB1(NM_020774.3):c.637-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21778095C>G" "" "likely benign" "" "0000291813" "0" "50" "18" "19359501" "19359501" "subst" "0" "01943" "MIB1_000017" "g.19359501G>C" "" "" "" "MIB1(NM_020774.3):c.763G>C (p.D255H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779540G>C" "" "VUS" "" "0000325842" "0" "50" "18" "19379811" "19379811" "subst" "4.0818E-6" "01804" "MIB1_000024" "g.19379811C>G" "" "" "" "MIB1(NM_020774.2):c.1247C>G (p.(Ser416Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21799850C>G" "" "VUS" "" "0000342621" "0" "50" "18" "19371378" "19371378" "subst" "3.25945E-5" "02327" "MIB1_000063" "g.19371378C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21791417C>T" "" "VUS" "" "0000347122" "0" "50" "18" "19378049" "19378049" "subst" "0" "02327" "MIB1_000065" "g.19378049T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21798088T>A" "" "VUS" "" "0000348945" "0" "50" "18" "19371418" "19371418" "subst" "0" "02327" "MIB1_000064" "g.19371418C>A" "" "" "" "MIB1(NM_020774.3):c.992C>A (p.S331*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21791457C>A" "" "VUS" "" "0000405996" "0" "90" "18" "19437118" "19437119" "del" "0" "02552" "MIB1_000069" "g.19437118_19437119del" "" "{PMID:Papuc 2019:30552426}" "" "" "" "De novo" "" "" "0" "" "" "g.21857157_21857158del" "" "pathogenic" "" "0000407953" "0" "70" "18" "19348703" "19348703" "subst" "2.86594E-5" "00006" "MIB1_000001" "g.19348703G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_020774.2:c.521G>A (Arg174His)" "candidate variant" "De novo" "" "" "0" "" "" "g.21768742G>A" "" "likely pathogenic" "" "0000563978" "0" "30" "18" "19321528" "19321528" "subst" "0.000744514" "02325" "MIB1_000070" "g.19321528C>T" "" "" "" "MIB1(NM_020774.4):c.-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741567C>T" "" "likely benign" "" "0000563979" "0" "50" "18" "19321548" "19321548" "subst" "2.68626E-5" "02330" "MIB1_000071" "g.19321548A>G" "" "" "" "MIB1(NM_020774.4):c.4A>G (p.S2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741587A>G" "" "VUS" "" "0000563980" "0" "50" "18" "19321548" "19321548" "subst" "2.68626E-5" "02327" "MIB1_000071" "g.19321548A>G" "" "" "" "MIB1(NM_020774.4):c.4A>G (p.S2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741587A>G" "" "VUS" "" "0000563981" "0" "10" "18" "19321649" "19321649" "subst" "5.04299E-5" "02330" "MIB1_000072" "g.19321649T>C" "" "" "" "MIB1(NM_020774.4):c.105T>C (p.H35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741688T>C" "" "benign" "" "0000563982" "0" "30" "18" "19321682" "19321682" "subst" "1.25688E-5" "01943" "MIB1_000005" "g.19321682G>A" "" "" "" "MIB1(NM_020774.3):c.138G>A (p.E46=), MIB1(NM_020774.4):c.138G>A (p.E46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741721G>A" "" "likely benign" "" "0000563983" "0" "30" "18" "19321682" "19321682" "subst" "1.25688E-5" "02327" "MIB1_000005" "g.19321682G>A" "" "" "" "MIB1(NM_020774.3):c.138G>A (p.E46=), MIB1(NM_020774.4):c.138G>A (p.E46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741721G>A" "" "likely benign" "" "0000563984" "0" "30" "18" "19321682" "19321682" "subst" "1.25688E-5" "02326" "MIB1_000005" "g.19321682G>A" "" "" "" "MIB1(NM_020774.3):c.138G>A (p.E46=), MIB1(NM_020774.4):c.138G>A (p.E46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741721G>A" "" "likely benign" "" "0000563985" "0" "30" "18" "19321706" "19321706" "subst" "2.52791E-5" "02327" "MIB1_000073" "g.19321706C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741745C>T" "" "likely benign" "" "0000563986" "0" "30" "18" "19321716" "19321716" "subst" "0" "02327" "MIB1_000074" "g.19321716G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741755G>A" "" "likely benign" "" "0000563987" "0" "70" "18" "19321742" "19321742" "subst" "0" "02325" "MIB1_000075" "g.19321742C>A" "" "" "" "MIB1(NM_020774.4):c.198C>A (p.Y66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741781C>A" "" "likely pathogenic" "" "0000563988" "0" "10" "18" "19345720" "19345720" "subst" "4.11753E-6" "02330" "MIB1_000076" "g.19345720C>T" "" "" "" "MIB1(NM_020774.3):c.230-13C>T, MIB1(NM_020774.4):c.230-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765759C>T" "" "benign" "" "0000563989" "0" "10" "18" "19345720" "19345720" "subst" "4.11753E-6" "02326" "MIB1_000076" "g.19345720C>T" "" "" "" "MIB1(NM_020774.3):c.230-13C>T, MIB1(NM_020774.4):c.230-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765759C>T" "" "benign" "" "0000563990" "0" "50" "18" "19345879" "19345879" "subst" "4.47071E-5" "02326" "MIB1_000077" "g.19345879C>T" "" "" "" "MIB1(NM_020774.3):c.376C>T (p.R126*), MIB1(NM_020774.4):c.376C>T (p.R126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765918C>T" "" "VUS" "" "0000563991" "0" "50" "18" "19348579" "19348579" "subst" "0" "02330" "MIB1_000078" "g.19348579T>G" "" "" "" "MIB1(NM_020774.4):c.402-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21768618T>G" "" "VUS" "" "0000563992" "0" "50" "18" "19348658" "19348658" "subst" "1.64909E-5" "02327" "MIB1_000079" "g.19348658G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21768697G>A" "" "VUS" "" "0000563993" "0" "30" "18" "19353566" "19353566" "subst" "0.000189911" "02326" "MIB1_000080" "g.19353566T>A" "" "" "" "MIB1(NM_020774.3):c.532-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773605T>A" "" "likely benign" "" "0000563994" "0" "70" "18" "19353685" "19353685" "del" "0" "02327" "MIB1_000081" "g.19353685del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773724del" "" "likely pathogenic" "" "0000563995" "0" "30" "18" "19358101" "19358101" "subst" "4.0714E-6" "01943" "MIB1_000015" "g.19358101C>G" "" "" "" "MIB1(NM_020774.3):c.674C>G (p.S225C, p.(Ser225Cys)), MIB1(NM_020774.4):c.674C>G (p.S225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21778140C>G" "" "likely benign" "" "0000563997" "0" "30" "18" "19359509" "19359509" "subst" "4.0624E-6" "02327" "MIB1_000082" "g.19359509C>T" "" "" "" "MIB1(NM_020774.3):c.771C>T (p.D257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21779548C>T" "" "likely benign" "" "0000563998" "0" "30" "18" "19359512" "19359512" "subst" "8.12513E-6" "02327" "MIB1_000083" "g.19359512C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21779551C>T" "" "likely benign" "" "0000563999" "0" "30" "18" "19359521" "19359521" "subst" "0" "02327" "MIB1_000084" "g.19359521A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21779560A>G" "" "likely benign" "" "0000564000" "0" "10" "18" "19359581" "19359581" "subst" "0.000519881" "02327" "MIB1_000066" "g.19359581A>T" "" "" "" "MIB1(NM_020774.3):c.843A>T (p.T281=), MIB1(NM_020774.4):c.843A>T (p.T281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21779620A>T" "" "benign" "" "0000564001" "0" "70" "18" "19371338" "19371338" "subst" "0" "02327" "MIB1_000085" "g.19371338G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791377G>A" "" "likely pathogenic" "" "0000564002" "0" "50" "18" "19371379" "19371379" "subst" "1.22201E-5" "02327" "MIB1_000086" "g.19371379G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791418G>A" "" "VUS" "" "0000564003" "0" "50" "18" "19371418" "19371418" "subst" "1.62542E-5" "02325" "MIB1_000087" "g.19371418C>T" "" "" "" "MIB1(NM_020774.4):c.992C>T (p.S331L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791457C>T" "" "VUS" "" "0000564004" "0" "30" "18" "19371419" "19371419" "subst" "0.000130046" "02326" "MIB1_000088" "g.19371419G>A" "" "" "" "MIB1(NM_020774.3):c.993G>A (p.S331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791458G>A" "" "likely benign" "" "0000564005" "0" "50" "18" "19371462" "19371462" "subst" "0" "01804" "MIB1_000089" "g.19371462G>T" "" "" "" "MIB1(NM_020774.2):c.1036G>T (p.(Glu346Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791501G>T" "" "VUS" "" "0000564006" "0" "10" "18" "19371521" "19371521" "subst" "0.000352702" "02330" "MIB1_000090" "g.19371521A>G" "" "" "" "MIB1(NM_020774.3):c.1092+3A>G, MIB1(NM_020774.4):c.1092+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791560A>G" "" "benign" "" "0000564007" "0" "30" "18" "19371521" "19371521" "subst" "0.000352702" "02325" "MIB1_000090" "g.19371521A>G" "" "" "" "MIB1(NM_020774.3):c.1092+3A>G, MIB1(NM_020774.4):c.1092+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791560A>G" "" "likely benign" "" "0000564008" "0" "30" "18" "19371521" "19371521" "subst" "0.000352702" "02326" "MIB1_000090" "g.19371521A>G" "" "" "" "MIB1(NM_020774.3):c.1092+3A>G, MIB1(NM_020774.4):c.1092+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791560A>G" "" "likely benign" "" "0000564009" "0" "50" "18" "19378048" "19378049" "del" "0" "02327" "MIB1_000091" "g.19378048_19378049del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21798087_21798088del" "" "VUS" "" "0000564010" "0" "50" "18" "19378063" "19378063" "subst" "8.13981E-5" "02325" "MIB1_000092" "g.19378063C>T" "" "" "" "MIB1(NM_020774.3):c.1111C>T (p.(Arg371*)), MIB1(NM_020774.4):c.1111C>T (p.R371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21798102C>T" "" "VUS" "" "0000564011" "0" "50" "18" "19378177" "19378177" "subst" "8.14438E-6" "02327" "MIB1_000023" "g.19378177A>G" "" "" "" "MIB1(NM_020774.3):c.1225A>G (p.N409D), MIB1(NM_020774.4):c.1225A>G (p.N409D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21798216A>G" "" "VUS" "" "0000564012" "0" "30" "18" "19378195" "19378195" "subst" "3.26275E-5" "02330" "MIB1_000093" "g.19378195T>C" "" "" "" "MIB1(NM_020774.3):c.1237+6T>C (p.?), MIB1(NM_020774.4):c.1237+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21798234T>C" "" "likely benign" "" "0000564013" "0" "30" "18" "19379791" "19379791" "subst" "0" "02327" "MIB1_000094" "g.19379791A>T" "" "" "" "MIB1(NM_020774.4):c.1238-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21799830A>T" "" "likely benign" "" "0000564015" "0" "70" "18" "19379936" "19379936" "subst" "0" "02327" "MIB1_000096" "g.19379936G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21799975G>A" "" "likely pathogenic" "" "0000564016" "0" "10" "18" "19383856" "19383856" "subst" "3.716E-5" "02330" "MIB1_000097" "g.19383856T>A" "" "" "" "MIB1(NM_020774.3):c.1372-12T>A, MIB1(NM_020774.4):c.1372-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21803895T>A" "" "benign" "" "0000564017" "0" "70" "18" "19383895" "19383898" "dup" "0" "02325" "MIB1_000098" "g.19383895_19383898dup" "" "" "" "MIB1(NM_020774.4):c.1399_1402dupGCTA (p.M468Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21803934_21803937dup" "" "likely pathogenic" "" "0000564018" "0" "70" "18" "19395609" "19395609" "del" "0" "01943" "MIB1_000099" "g.19395609del" "" "" "" "MIB1(NM_020774.3):c.1512delA (p.A505Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815648del" "" "likely pathogenic" "" "0000564019" "0" "50" "18" "19395685" "19395685" "subst" "3.65663E-5" "02325" "MIB1_000033" "g.19395685C>T" "" "" "" "MIB1(NM_020774.3):c.1588C>T (p.R530*), MIB1(NM_020774.4):c.1588C>T (p.R530*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815724C>T" "" "VUS" "" "0000564020" "0" "30" "18" "19399530" "19399530" "subst" "8.14697E-6" "02326" "MIB1_000100" "g.19399530A>T" "" "" "" "MIB1(NM_020774.3):c.1752A>T (p.E584D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21819569A>T" "" "likely benign" "" "0000564021" "0" "50" "18" "19399549" "19399549" "subst" "0.000134844" "02327" "MIB1_000101" "g.19399549A>T" "" "" "" "MIB1(NM_020774.3):c.1771A>T (p.I591F), MIB1(NM_020774.4):c.1771A>T (p.I591F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21819588A>T" "" "VUS" "" "0000564022" "0" "30" "18" "19399549" "19399549" "subst" "0.000134844" "02326" "MIB1_000101" "g.19399549A>T" "" "" "" "MIB1(NM_020774.3):c.1771A>T (p.I591F), MIB1(NM_020774.4):c.1771A>T (p.I591F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21819588A>T" "" "likely benign" "" "0000564023" "0" "30" "18" "19418308" "19418308" "subst" "0.000180009" "02327" "MIB1_000036" "g.19418308T>C" "" "" "" "MIB1(NM_020774.3):c.1830-18T>C, MIB1(NM_020774.4):c.1830-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21838347T>C" "" "likely benign" "" "0000564024" "0" "30" "18" "19418308" "19418308" "subst" "0.000180009" "02326" "MIB1_000036" "g.19418308T>C" "" "" "" "MIB1(NM_020774.3):c.1830-18T>C, MIB1(NM_020774.4):c.1830-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21838347T>C" "" "likely benign" "" "0000564025" "0" "10" "18" "19423086" "19423086" "subst" "0.00134125" "02327" "MIB1_000039" "g.19423086G>A" "" "" "" "MIB1(NM_020774.3):c.1963-6G>A, MIB1(NM_020774.4):c.1963-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21843125G>A" "" "benign" "" "0000564026" "0" "50" "18" "19423140" "19423140" "subst" "0" "02327" "MIB1_000102" "g.19423140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21843179C>T" "" "VUS" "" "0000564027" "0" "50" "18" "19424103" "19424103" "subst" "8.1246E-6" "02330" "MIB1_000103" "g.19424103T>G" "" "" "" "MIB1(NM_020774.4):c.2100T>G (p.D700E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844142T>G" "" "VUS" "" "0000564028" "0" "30" "18" "19424115" "19424115" "subst" "0" "02327" "MIB1_000104" "g.19424115T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844154T>C" "" "likely benign" "" "0000564029" "0" "50" "18" "19426929" "19426929" "subst" "0" "02327" "MIB1_000105" "g.19426929G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846968G>C" "" "VUS" "" "0000564030" "0" "10" "18" "19426931" "19426931" "subst" "8.13061E-6" "02330" "MIB1_000106" "g.19426931G>T" "" "" "" "MIB1(NM_020774.4):c.2238G>T (p.G746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846970G>T" "" "benign" "" "0000564031" "0" "50" "18" "19426966" "19426966" "subst" "4.06157E-6" "02327" "MIB1_000107" "g.19426966T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847005T>C" "" "VUS" "" "0000564032" "0" "70" "18" "19426998" "19426998" "subst" "4.06171E-5" "01943" "MIB1_000108" "g.19426998C>T" "" "" "" "MIB1(NM_020774.3):c.2305C>T (p.R769*), MIB1(NM_020774.4):c.2305C>T (p.R769*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847037C>T" "" "likely pathogenic" "" "0000564033" "0" "50" "18" "19427019" "19427019" "subst" "0" "02327" "MIB1_000109" "g.19427019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847058C>T" "" "VUS" "" "0000564034" "0" "30" "18" "19427030" "19427030" "subst" "0.000324963" "02327" "MIB1_000050" "g.19427030C>T" "" "" "" "MIB1(NM_020774.3):c.2337C>T (p.L779=), MIB1(NM_020774.4):c.2337C>T (p.L779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847069C>T" "" "likely benign" "" "0000564035" "0" "10" "18" "19427096" "19427096" "subst" "0.0759375" "02330" "MIB1_000110" "g.19427096A>G" "" "" "" "MIB1(NM_020774.3):c.2393+10A>G, MIB1(NM_020774.4):c.2393+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847135A>G" "" "benign" "" "0000564036" "0" "10" "18" "19427096" "19427096" "subst" "0.0759375" "01943" "MIB1_000110" "g.19427096A>G" "" "" "" "MIB1(NM_020774.3):c.2393+10A>G, MIB1(NM_020774.4):c.2393+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847135A>G" "" "benign" "" "0000564037" "0" "50" "18" "19429173" "19429173" "subst" "0" "01943" "MIB1_000111" "g.19429173C>T" "" "" "" "MIB1(NM_020774.3):c.2410C>T (p.R804W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849212C>T" "" "VUS" "" "0000564038" "0" "30" "18" "19429174" "19429174" "subst" "0.000325536" "02330" "MIB1_000112" "g.19429174G>A" "" "" "" "MIB1(NM_020774.3):c.2411G>A (p.R804Q), MIB1(NM_020774.4):c.2411G>A (p.R804Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849213G>A" "" "likely benign" "" "0000564039" "0" "30" "18" "19429174" "19429174" "subst" "0.000325536" "02327" "MIB1_000112" "g.19429174G>A" "" "" "" "MIB1(NM_020774.3):c.2411G>A (p.R804Q), MIB1(NM_020774.4):c.2411G>A (p.R804Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849213G>A" "" "likely benign" "" "0000564040" "0" "30" "18" "19429174" "19429174" "subst" "0.000325536" "02325" "MIB1_000112" "g.19429174G>A" "" "" "" "MIB1(NM_020774.3):c.2411G>A (p.R804Q), MIB1(NM_020774.4):c.2411G>A (p.R804Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849213G>A" "" "likely benign" "" "0000564041" "0" "30" "18" "19429174" "19429174" "subst" "0.000325536" "02326" "MIB1_000112" "g.19429174G>A" "" "" "" "MIB1(NM_020774.3):c.2411G>A (p.R804Q), MIB1(NM_020774.4):c.2411G>A (p.R804Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849213G>A" "" "likely benign" "" "0000564042" "0" "30" "18" "19429208" "19429208" "subst" "7.40796E-5" "01943" "MIB1_000052" "g.19429208C>G" "" "" "" "MIB1(NM_020774.3):c.2445C>G (p.T815=), MIB1(NM_020774.4):c.2445C>G (p.T815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849247C>G" "" "likely benign" "" "0000564043" "0" "30" "18" "19429208" "19429208" "subst" "7.40796E-5" "02327" "MIB1_000052" "g.19429208C>G" "" "" "" "MIB1(NM_020774.3):c.2445C>G (p.T815=), MIB1(NM_020774.4):c.2445C>G (p.T815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849247C>G" "" "likely benign" "" "0000564044" "0" "70" "18" "19429219" "19429219" "del" "0" "02325" "MIB1_000113" "g.19429219del" "" "" "" "MIB1(NM_020774.4):c.2456delG (p.C819Lfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849258del" "" "likely pathogenic" "" "0000564045" "0" "10" "18" "19429366" "19429366" "subst" "0.000104583" "02330" "MIB1_000114" "g.19429366A>G" "" "" "" "MIB1(NM_020774.3):c.2586+17A>G, MIB1(NM_020774.4):c.2586+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849405A>G" "" "benign" "" "0000564046" "0" "30" "18" "19433086" "19433086" "subst" "0" "02327" "MIB1_000115" "g.19433086C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21853125C>G" "" "likely benign" "" "0000564047" "0" "30" "18" "19433089" "19433090" "del" "0" "02327" "MIB1_000116" "g.19433089_19433090del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21853128_21853129del" "" "likely benign" "" "0000564048" "0" "70" "18" "19433103" "19433104" "dup" "0" "01943" "MIB1_000117" "g.19433103_19433104dup" "" "" "" "MIB1(NM_020774.3):c.2589_2590dupTG (p.E864Vfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21853142_21853143dup" "" "likely pathogenic" "" "0000564049" "0" "30" "18" "19437101" "19437101" "subst" "0.000658119" "02327" "MIB1_000058" "g.19437101C>T" "" "" "" "MIB1(NM_020774.4):c.2676C>T (p.N892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857140C>T" "" "likely benign" "" "0000564050" "0" "70" "18" "19437126" "19437126" "subst" "2.43673E-5" "01943" "MIB1_000118" "g.19437126C>T" "" "" "" "MIB1(NM_020774.3):c.2701C>T (p.R901*), MIB1(NM_020774.4):c.2701C>T (p.R901*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857165C>T" "" "likely pathogenic" "" "0000564051" "0" "30" "18" "19437128" "19437128" "subst" "0" "02327" "MIB1_000119" "g.19437128A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857167A>C" "" "likely benign" "" "0000564052" "0" "70" "18" "19437141" "19437141" "subst" "7.71574E-5" "02327" "MIB1_000120" "g.19437141C>T" "" "" "" "MIB1(NM_020774.3):c.2716C>T (p.R906*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857180C>T" "" "likely pathogenic" "" "0000564054" "0" "30" "18" "19437212" "19437212" "subst" "0.000252102" "02327" "MIB1_000060" "g.19437212G>A" "" "" "" "MIB1(NM_020774.3):c.2779+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21857251G>A" "" "likely benign" "" "0000564056" "0" "30" "18" "19438568" "19438568" "subst" "4.8765E-5" "01943" "MIB1_000122" "g.19438568G>A" "" "" "" "MIB1(NM_020774.3):c.2841G>A (p.V947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21858607G>A" "" "likely benign" "" "0000564057" "0" "50" "18" "19444499" "19444499" "subst" "0" "01943" "MIB1_000123" "g.19444499G>A" "" "" "" "MIB1(NM_020774.3):c.2893G>A (p.V965M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864538G>A" "" "VUS" "" "0000616960" "0" "10" "18" "19321528" "19321528" "subst" "0.000744514" "02330" "MIB1_000070" "g.19321528C>T" "" "" "" "MIB1(NM_020774.4):c.-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741567C>T" "" "benign" "" "0000616962" "0" "50" "18" "19345808" "19345809" "del" "0" "02327" "MIB1_000124" "g.19345808_19345809del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765847_21765848del" "" "VUS" "" "0000616963" "0" "70" "18" "19345830" "19345830" "subst" "0" "02325" "MIB1_000125" "g.19345830C>A" "" "" "" "MIB1(NM_020774.4):c.327C>A (p.C109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765869C>A" "" "likely pathogenic" "" "0000616964" "0" "50" "18" "19353627" "19353627" "subst" "0" "02327" "MIB1_000126" "g.19353627G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773666G>A" "" "VUS" "" "0000616965" "0" "30" "18" "19353696" "19353696" "subst" "4.65164E-5" "02327" "MIB1_000012" "g.19353696A>C" "" "" "" "MIB1(NM_020774.3):c.636+7A>C, MIB1(NM_020774.4):c.636+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773735A>C" "" "likely benign" "" "0000616966" "0" "30" "18" "19358116" "19358116" "subst" "0" "02327" "MIB1_000127" "g.19358116A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21778155A>G" "" "likely benign" "" "0000616967" "0" "30" "18" "19359474" "19359474" "subst" "0.00024378" "02327" "MIB1_000016" "g.19359474T>C" "" "" "" "MIB1(NM_020774.3):c.736T>C (p.L246=), MIB1(NM_020774.4):c.736T>C (p.L246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21779513T>C" "" "likely benign" "" "0000616968" "0" "30" "18" "19371521" "19371521" "subst" "0.000352702" "02327" "MIB1_000090" "g.19371521A>G" "" "" "" "MIB1(NM_020774.3):c.1092+3A>G, MIB1(NM_020774.4):c.1092+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21791560A>G" "" "likely benign" "" "0000616969" "0" "30" "18" "19378041" "19378041" "dup" "0" "02327" "MIB1_000129" "g.19378041dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21798080dup" "" "likely benign" "" "0000616970" "0" "50" "18" "19379871" "19379871" "subst" "4.07664E-6" "01804" "MIB1_000130" "g.19379871T>G" "" "" "" "MIB1(NM_020774.2):c.1307T>G (p.(Val436Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21799910T>G" "" "VUS" "" "0000616971" "0" "50" "18" "19379871" "19379871" "subst" "4.07664E-6" "02327" "MIB1_000130" "g.19379871T>G" "" "" "" "MIB1(NM_020774.2):c.1307T>G (p.(Val436Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21799910T>G" "" "VUS" "" "0000616972" "0" "50" "18" "19379886" "19379886" "subst" "4.0781E-6" "02330" "MIB1_000026" "g.19379886A>C" "" "" "" "MIB1(NM_020774.3):c.1322A>C (p.(Asn441Thr), p.N441T), MIB1(NM_020774.4):c.1322A>C (p.N441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21799925A>C" "" "VUS" "" "0000616973" "0" "10" "18" "19383856" "19383856" "subst" "3.716E-5" "02327" "MIB1_000097" "g.19383856T>A" "" "" "" "MIB1(NM_020774.3):c.1372-12T>A, MIB1(NM_020774.4):c.1372-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21803895T>A" "" "benign" "" "0000616974" "0" "10" "18" "19383857" "19383857" "subst" "6.63295E-5" "02330" "MIB1_000131" "g.19383857A>T" "" "" "" "MIB1(NM_020774.3):c.1372-11A>T, MIB1(NM_020774.4):c.1372-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21803896A>T" "" "benign" "" "0000616975" "0" "70" "18" "19383867" "19383867" "subst" "0" "02327" "MIB1_000132" "g.19383867G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21803906G>C" "" "likely pathogenic" "" "0000616976" "0" "30" "18" "19383888" "19383888" "subst" "0" "02327" "MIB1_000133" "g.19383888C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21803927C>T" "" "likely benign" "" "0000616977" "0" "50" "18" "19395755" "19395755" "subst" "0" "01943" "MIB1_000134" "g.19395755G>A" "" "" "" "MIB1(NM_020774.3):c.1658G>A (p.G553D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815794G>A" "" "VUS" "" "0000616978" "0" "50" "18" "19399472" "19399472" "subst" "0" "02330" "MIB1_000135" "g.19399472C>A" "" "" "" "MIB1(NM_020774.4):c.1694C>A (p.T565N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21819511C>A" "" "VUS" "" "0000616979" "0" "30" "18" "19399619" "19399619" "dup" "0" "02327" "MIB1_000136" "g.19399619dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21819658dup" "" "likely benign" "" "0000616980" "0" "50" "18" "19423096" "19423096" "subst" "1.27316E-5" "02330" "MIB1_000137" "g.19423096A>C" "" "" "" "MIB1(NM_020774.4):c.1967A>C (p.N656T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21843135A>C" "" "VUS" "" "0000616981" "0" "50" "18" "19423155" "19423155" "subst" "9.10613E-5" "02327" "MIB1_000042" "g.19423155C>T" "" "" "" "MIB1(NM_020774.3):c.2026C>T (p.R676*), MIB1(NM_020774.4):c.2026C>T (p.R676*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21843194C>T" "" "VUS" "" "0000616982" "0" "30" "18" "19427000" "19427000" "subst" "1.62468E-5" "02327" "MIB1_000049" "g.19427000A>G" "" "" "" "MIB1(NM_020774.3):c.2307A>G (p.R769=), MIB1(NM_020774.4):c.2307A>G (p.R769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847039A>G" "" "likely benign" "" "0000616983" "0" "30" "18" "19427017" "19427017" "subst" "4.06204E-6" "02327" "MIB1_000138" "g.19427017C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847056C>T" "" "likely benign" "" "0000616984" "0" "70" "18" "19429181" "19429184" "del" "0" "02327" "MIB1_000139" "g.19429181_19429184del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21849220_21849223del" "" "likely pathogenic" "" "0000616985" "0" "10" "18" "19444473" "19444473" "subst" "2.03987E-5" "02330" "MIB1_000140" "g.19444473A>G" "" "" "" "MIB1(NM_020774.4):c.2881-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864512A>G" "" "benign" "" "0000616986" "0" "50" "18" "19444580" "19444580" "subst" "0" "02325" "MIB1_000141" "g.19444580T>C" "" "" "" "MIB1(NM_020774.4):c.2974T>C (p.C992R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21864619T>C" "" "VUS" "" "0000623808" "0" "50" "18" "19359608" "19359608" "del" "0" "02325" "MIB1_000128" "g.19359608del" "" "" "" "MIB1(NM_020774.4):c.870delA (p.D291Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21779647del" "" "VUS" "" "0000623809" "0" "70" "18" "19426998" "19426998" "subst" "4.06171E-5" "02325" "MIB1_000108" "g.19426998C>T" "" "" "" "MIB1(NM_020774.3):c.2305C>T (p.R769*), MIB1(NM_020774.4):c.2305C>T (p.R769*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21847037C>T" "" "likely pathogenic" "" "0000649769" "1" "30" "18" "19345879" "19345879" "subst" "4.47071E-5" "03575" "MIB1_000077" "g.19345879C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs190657514}" "Germline" "" "rs190657514" "0" "" "" "g.21765918C>T" "" "likely benign" "" "0000658316" "0" "30" "18" "19321724" "19321724" "subst" "8.11903E-5" "02326" "MIB1_000006" "g.19321724C>T" "" "" "" "MIB1(NM_020774.3):c.180C>T (p.Y60=), MIB1(NM_020774.4):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21741763C>T" "" "likely benign" "" "0000658317" "0" "50" "18" "19345850" "19345850" "subst" "0" "02330" "MIB1_000142" "g.19345850A>T" "" "" "" "MIB1(NM_020774.4):c.347A>T (p.D116V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765889A>T" "" "VUS" "" "0000658318" "0" "30" "18" "19348720" "19348720" "subst" "0" "01943" "MIB1_000143" "g.19348720T>G" "" "" "" "MIB1(NM_020774.3):c.531+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21768759T>G" "" "likely benign" "" "0000658319" "0" "30" "18" "19358101" "19358101" "subst" "4.0714E-6" "02326" "MIB1_000015" "g.19358101C>G" "" "" "" "MIB1(NM_020774.3):c.674C>G (p.S225C, p.(Ser225Cys)), MIB1(NM_020774.4):c.674C>G (p.S225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21778140C>G" "" "likely benign" "" "0000658320" "0" "30" "18" "19426901" "19426901" "subst" "0" "02325" "MIB1_000144" "g.19426901G>A" "" "" "" "MIB1(NM_020774.4):c.2212-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21846940G>A" "" "likely benign" "" "0000681094" "0" "50" "18" "19345906" "19345906" "subst" "8.13061E-6" "01943" "MIB1_000145" "g.19345906T>C" "" "" "" "MIB1(NM_020774.3):c.401+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681095" "0" "10" "18" "19348686" "19348686" "subst" "5.72677E-5" "02330" "MIB1_000146" "g.19348686A>G" "" "" "" "MIB1(NM_020774.4):c.504A>G (p.Q168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681096" "0" "30" "18" "19353656" "19353656" "subst" "0.00019657" "01943" "MIB1_000011" "g.19353656T>G" "" "" "" "MIB1(NM_020774.3):c.603T>G (p.A201=), MIB1(NM_020774.4):c.603T>G (p.A201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681097" "0" "30" "18" "19383966" "19383966" "subst" "9.36139E-5" "02327" "MIB1_000030" "g.19383966C>T" "" "" "" "MIB1(NM_020774.3):c.1470C>T (p.V490=), MIB1(NM_020774.4):c.1470C>T (p.V490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681098" "0" "50" "18" "19399549" "19399549" "subst" "0.000134844" "02330" "MIB1_000101" "g.19399549A>T" "" "" "" "MIB1(NM_020774.3):c.1771A>T (p.I591F), MIB1(NM_020774.4):c.1771A>T (p.I591F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681099" "0" "50" "18" "19399562" "19399562" "subst" "4.08787E-6" "02330" "MIB1_000147" "g.19399562A>G" "" "" "" "MIB1(NM_020774.4):c.1784A>G (p.N595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681100" "0" "30" "18" "19437209" "19437209" "subst" "0" "02327" "MIB1_000148" "g.19437209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692548" "0" "50" "18" "19345898" "19345898" "subst" "0" "02330" "MIB1_000149" "g.19345898G>A" "" "" "" "MIB1(NM_020774.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692549" "0" "30" "18" "19359474" "19359474" "subst" "0.00024378" "01943" "MIB1_000016" "g.19359474T>C" "" "" "" "MIB1(NM_020774.3):c.736T>C (p.L246=), MIB1(NM_020774.4):c.736T>C (p.L246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692550" "0" "50" "18" "19379886" "19379886" "subst" "4.0781E-6" "02326" "MIB1_000026" "g.19379886A>C" "" "" "" "MIB1(NM_020774.3):c.1322A>C (p.(Asn441Thr), p.N441T), MIB1(NM_020774.4):c.1322A>C (p.N441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692551" "0" "30" "18" "19395642" "19395642" "subst" "1.6251E-5" "01943" "MIB1_000150" "g.19395642A>T" "" "" "" "MIB1(NM_020774.3):c.1545A>T (p.V515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692552" "0" "10" "18" "19427018" "19427018" "subst" "0.000101557" "02330" "MIB1_000151" "g.19427018G>A" "" "" "" "MIB1(NM_020774.3):c.2325G>A (p.S775=), MIB1(NM_020774.4):c.2325G>A (p.S775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692553" "0" "50" "18" "19437141" "19437141" "subst" "7.71574E-5" "01943" "MIB1_000120" "g.19437141C>T" "" "" "" "MIB1(NM_020774.3):c.2716C>T (p.R906*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704367" "0" "50" "18" "19371378" "19371378" "subst" "3.25945E-5" "00006" "MIB1_000063" "g.19371378C>T" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.21791417C>T" "" "VUS" "ACMG" "0000726811" "0" "50" "18" "19348657" "19348657" "subst" "3.30658E-5" "02330" "MIB1_000152" "g.19348657C>T" "" "" "" "MIB1(NM_020774.3):c.475C>T (p.R159*), MIB1(NM_020774.4):c.475C>T (p.R159*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726812" "0" "30" "18" "19358135" "19358135" "subst" "1.22722E-5" "02325" "MIB1_000153" "g.19358135G>A" "" "" "" "MIB1(NM_020774.4):c.703+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726813" "0" "30" "18" "19359474" "19359474" "subst" "0.00024378" "02326" "MIB1_000016" "g.19359474T>C" "" "" "" "MIB1(NM_020774.3):c.736T>C (p.L246=), MIB1(NM_020774.4):c.736T>C (p.L246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726814" "0" "70" "18" "19371386" "19371387" "ins" "0" "01943" "MIB1_000154" "g.19371386_19371387insTCTC" "" "" "" "MIB1(NM_020774.3):c.960_961insTCTC (p.D321Sfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726815" "0" "70" "18" "19371387" "19371388" "del" "0" "01943" "MIB1_000155" "g.19371387_19371388del" "" "" "" "MIB1(NM_020774.3):c.961_962delGA (p.D321Cfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726816" "0" "30" "18" "19378178" "19378178" "subst" "0.000134324" "01943" "MIB1_000156" "g.19378178A>G" "" "" "" "MIB1(NM_020774.3):c.1226A>G (p.N409S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726817" "0" "30" "18" "19383856" "19383856" "subst" "3.716E-5" "02326" "MIB1_000097" "g.19383856T>A" "" "" "" "MIB1(NM_020774.3):c.1372-12T>A, MIB1(NM_020774.4):c.1372-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726818" "0" "10" "18" "19395794" "19395794" "subst" "0" "02330" "MIB1_000157" "g.19395794A>G" "" "" "" "MIB1(NM_020774.4):c.1677+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726819" "0" "30" "18" "19399549" "19399549" "subst" "0.000134844" "02325" "MIB1_000101" "g.19399549A>T" "" "" "" "MIB1(NM_020774.3):c.1771A>T (p.I591F), MIB1(NM_020774.4):c.1771A>T (p.I591F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726820" "0" "50" "18" "19423155" "19423155" "subst" "9.10613E-5" "02325" "MIB1_000042" "g.19423155C>T" "" "" "" "MIB1(NM_020774.3):c.2026C>T (p.R676*), MIB1(NM_020774.4):c.2026C>T (p.R676*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808390" "0" "50" "18" "19345879" "19345879" "subst" "4.47071E-5" "02330" "MIB1_000077" "g.19345879C>T" "" "" "" "MIB1(NM_020774.3):c.376C>T (p.R126*), MIB1(NM_020774.4):c.376C>T (p.R126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808391" "0" "70" "18" "19358120" "19358120" "subst" "0" "02325" "MIB1_000158" "g.19358120C>A" "" "" "" "MIB1(NM_020774.4):c.693C>A (p.C231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808392" "0" "50" "18" "19371418" "19371418" "subst" "0" "01943" "MIB1_000064" "g.19371418C>A" "" "" "" "MIB1(NM_020774.3):c.992C>A (p.S331*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808393" "0" "10" "18" "19383906" "19383906" "subst" "4.06683E-6" "02330" "MIB1_000159" "g.19383906T>C" "" "" "" "MIB1(NM_020774.4):c.1410T>C (p.A470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808394" "0" "30" "18" "19395603" "19395603" "subst" "8.12836E-6" "02326" "MIB1_000160" "g.19395603C>T" "" "" "" "MIB1(NM_020774.3):c.1506C>T (p.H502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808395" "0" "10" "18" "19429343" "19429343" "subst" "8.74906E-6" "02330" "MIB1_000055" "g.19429343G>A" "" "" "" "MIB1(NM_020774.3):c.2580G>A (p.R860=), MIB1(NM_020774.4):c.2580G>A (p.R860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808396" "0" "50" "18" "19437126" "19437126" "subst" "2.43673E-5" "02330" "MIB1_000118" "g.19437126C>T" "" "" "" "MIB1(NM_020774.3):c.2701C>T (p.R901*), MIB1(NM_020774.4):c.2701C>T (p.R901*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855196" "0" "10" "18" "19321540" "19321540" "subst" "4.31243E-5" "02330" "MIB1_000161" "g.19321540C>T" "" "" "" "MIB1(NM_020774.4):c.-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855197" "0" "30" "18" "19321760" "19321760" "subst" "4.60359E-6" "02326" "MIB1_000162" "g.19321760C>T" "" "" "" "MIB1(NM_020774.3):c.216C>T (p.D72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855198" "0" "30" "18" "19359581" "19359581" "subst" "0.000519881" "02326" "MIB1_000066" "g.19359581A>T" "" "" "" "MIB1(NM_020774.3):c.843A>T (p.T281=), MIB1(NM_020774.4):c.843A>T (p.T281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855199" "0" "10" "18" "19379791" "19379791" "subst" "0" "02330" "MIB1_000094" "g.19379791A>T" "" "" "" "MIB1(NM_020774.4):c.1238-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855200" "0" "50" "18" "19395774" "19395774" "subst" "0" "01943" "MIB1_000166" "g.19395774G>C" "" "" "" "MIB1(NM_020774.3):c.1677G>C (p.Q559H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855201" "0" "70" "18" "19399526" "19399526" "del" "0" "02325" "MIB1_000167" "g.19399526del" "" "" "" "MIB1(NM_020774.4):c.1748delT (p.L583Wfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855202" "0" "50" "18" "19418394" "19418394" "subst" "0" "02330" "MIB1_000168" "g.19418394A>G" "" "" "" "MIB1(NM_020774.4):c.1898A>G (p.Y633C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855203" "0" "50" "18" "19424054" "19424054" "subst" "2.44155E-5" "02330" "MIB1_000169" "g.19424054T>G" "" "" "" "MIB1(NM_020774.4):c.2051T>G (p.L684R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855204" "0" "30" "18" "19429366" "19429366" "subst" "0.000104583" "02326" "MIB1_000114" "g.19429366A>G" "" "" "" "MIB1(NM_020774.3):c.2586+17A>G, MIB1(NM_020774.4):c.2586+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865593" "0" "90" "18" "19321774" "19321774" "subst" "0" "01943" "MIB1_000163" "g.19321774G>T" "" "" "" "MIB1(NM_020774.3):c.229+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865594" "0" "10" "18" "19321783" "19321783" "subst" "5.4512E-6" "02330" "MIB1_000164" "g.19321783G>C" "" "" "" "MIB1(NM_020774.4):c.229+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865595" "0" "70" "18" "19358132" "19358132" "subst" "0" "01943" "MIB1_000165" "g.19358132T>G" "" "" "" "MIB1(NM_020774.3):c.703+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865596" "0" "50" "18" "19426923" "19426923" "subst" "0" "02330" "MIB1_000170" "g.19426923A>G" "" "" "" "MIB1(NM_020774.4):c.2230A>G (p.T744A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865597" "0" "30" "18" "19427018" "19427018" "subst" "0.000101557" "01943" "MIB1_000151" "g.19427018G>A" "" "" "" "MIB1(NM_020774.3):c.2325G>A (p.S775=), MIB1(NM_020774.4):c.2325G>A (p.S775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894405" "0" "30" "18" "19321604" "19321604" "subst" "0.000127266" "02326" "MIB1_000171" "g.19321604C>T" "" "" "" "MIB1(NM_020774.3):c.60C>T (p.R20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894406" "0" "50" "18" "19348657" "19348657" "subst" "3.30658E-5" "02326" "MIB1_000152" "g.19348657C>T" "" "" "" "MIB1(NM_020774.3):c.475C>T (p.R159*), MIB1(NM_020774.4):c.475C>T (p.R159*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894407" "0" "30" "18" "19348720" "19348720" "subst" "0" "02326" "MIB1_000143" "g.19348720T>G" "" "" "" "MIB1(NM_020774.3):c.531+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894408" "0" "30" "18" "19353668" "19353668" "subst" "8.5245E-5" "02326" "MIB1_000172" "g.19353668C>T" "" "" "" "MIB1(NM_020774.3):c.615C>T (p.Y205=), MIB1(NM_020774.4):c.615C>T (p.Y205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894409" "0" "10" "18" "19378030" "19378030" "subst" "8.16733E-6" "02330" "MIB1_000173" "g.19378030A>G" "" "" "" "MIB1(NM_020774.4):c.1093-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894410" "0" "10" "18" "19378128" "19378128" "subst" "0" "02330" "MIB1_000174" "g.19378128C>T" "" "" "" "MIB1(NM_020774.4):c.1176C>T (p.Y392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894411" "0" "30" "18" "19383857" "19383857" "subst" "6.63295E-5" "02326" "MIB1_000131" "g.19383857A>T" "" "" "" "MIB1(NM_020774.3):c.1372-11A>T, MIB1(NM_020774.4):c.1372-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894412" "0" "50" "18" "19395673" "19395673" "subst" "7.31327E-5" "02325" "MIB1_000175" "g.19395673C>T" "" "" "" "MIB1(NM_020774.4):c.1576C>T (p.R526*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894413" "0" "30" "18" "19418428" "19418428" "subst" "4.12555E-6" "02326" "MIB1_000176" "g.19418428C>T" "" "" "" "MIB1(NM_020774.3):c.1932C>T (p.H644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894414" "0" "50" "18" "19418445" "19418445" "subst" "0" "02326" "MIB1_000177" "g.19418445T>C" "" "" "" "MIB1(NM_020774.3):c.1949T>C (p.L650P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894415" "0" "10" "18" "19427000" "19427000" "subst" "1.62468E-5" "02330" "MIB1_000049" "g.19427000A>G" "" "" "" "MIB1(NM_020774.3):c.2307A>G (p.R769=), MIB1(NM_020774.4):c.2307A>G (p.R769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894416" "0" "50" "18" "19437126" "19437126" "subst" "2.43673E-5" "02327" "MIB1_000118" "g.19437126C>T" "" "" "" "MIB1(NM_020774.3):c.2701C>T (p.R901*), MIB1(NM_020774.4):c.2701C>T (p.R901*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894417" "0" "10" "18" "19438562" "19438562" "subst" "0" "02330" "MIB1_000178" "g.19438562A>G" "" "" "" "MIB1(NM_020774.4):c.2835A>G (p.A945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894418" "0" "50" "18" "19444542" "19444542" "subst" "0" "02330" "MIB1_000179" "g.19444542A>G" "" "" "" "MIB1(NM_020774.4):c.2936A>G (p.H979R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894419" "0" "50" "18" "19444628" "19444628" "subst" "8.12803E-6" "02330" "MIB1_000180" "g.19444628C>G" "" "" "" "MIB1(NM_020774.4):c.*1C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915009" "0" "30" "18" "19378037" "19378037" "dup" "0" "02326" "MIB1_000181" "g.19378037dup" "" "" "" "MIB1(NM_020774.3):c.1093-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915010" "0" "30" "18" "19418410" "19418410" "subst" "0" "02326" "MIB1_000182" "g.19418410G>C" "" "" "" "MIB1(NM_020774.3):c.1914G>C (p.L638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915011" "0" "10" "18" "19418475" "19418475" "subst" "0.00200086" "02326" "MIB1_000038" "g.19418475A>G" "" "" "" "MIB1(NM_020774.3):c.1962+17A>G, MIB1(NM_020774.4):c.1962+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915012" "0" "50" "18" "19438552" "19438552" "subst" "0" "02326" "MIB1_000183" "g.19438552A>T" "" "" "" "MIB1(NM_020774.3):c.2825A>T (p.N942I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915013" "0" "50" "18" "19444589" "19444589" "subst" "0" "02325" "MIB1_000184" "g.19444589T>A" "" "" "" "MIB1(NM_020774.4):c.2983T>A (p.C995S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926700" "0" "10" "18" "19353565" "19353565" "subst" "8.62418E-6" "02330" "MIB1_000185" "g.19353565C>T" "" "" "" "MIB1(NM_020774.4):c.532-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930917" "0" "50" "18" "19321625" "19321625" "del" "0" "02327" "MIB1_000003" "g.19321625del" "" "" "" "MIB1(NM_020774.4):c.81delG (p.K28Sfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930918" "0" "50" "18" "19345801" "19345801" "subst" "0" "02330" "MIB1_000186" "g.19345801T>G" "" "" "" "MIB1(NM_020774.4):c.298T>G (p.C100G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930919" "0" "50" "18" "19371415" "19371415" "subst" "2.43851E-5" "02330" "MIB1_000187" "g.19371415C>T" "" "" "" "MIB1(NM_020774.4):c.989C>T (p.T330I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930920" "0" "50" "18" "19424134" "19424134" "subst" "0" "02325" "MIB1_000188" "g.19424134A>G" "" "" "" "MIB1(NM_020774.4):c.2131A>G (p.T711A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930921" "0" "10" "18" "19433154" "19433154" "subst" "0" "02330" "MIB1_000189" "g.19433154C>T" "" "" "" "MIB1(NM_020774.4):c.2640C>T (p.P880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951085" "0" "50" "18" "19348658" "19348658" "subst" "0" "02330" "MIB1_000190" "g.19348658G>T" "" "" "" "MIB1(NM_020774.4):c.476G>T (p.R159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951086" "0" "10" "18" "19423086" "19423086" "subst" "0.00134125" "02326" "MIB1_000039" "g.19423086G>A" "" "" "" "MIB1(NM_020774.3):c.1963-6G>A, MIB1(NM_020774.4):c.1963-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951087" "0" "50" "18" "19424052" "19424052" "subst" "4.06987E-6" "02326" "MIB1_000191" "g.19424052G>C" "" "" "" "MIB1(NM_020774.3):c.2050-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969323" "0" "50" "18" "19383958" "19383958" "subst" "4.06782E-6" "02330" "MIB1_000192" "g.19383958G>A" "" "" "" "MIB1(NM_020774.4):c.1462G>A (p.V488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969324" "0" "10" "18" "19437182" "19437182" "subst" "4.06101E-6" "02330" "MIB1_000193" "g.19437182A>G" "" "" "" "MIB1(NM_020774.4):c.2757A>G (p.S919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982969" "0" "10" "18" "19424124" "19424124" "subst" "0.000361553" "02330" "MIB1_000045" "g.19424124A>G" "" "" "" "MIB1(NM_020774.4):c.2121A>G (p.L707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989714" "0" "90" "18" "19423155" "19423155" "subst" "9.10613E-5" "02515" "MIB1_000042" "g.19423155C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs200545301" "0" "" "" "g.21843194C>T" "" "pathogenic" "" "0000989715" "0" "90" "18" "19345792" "19345792" "subst" "4.46904E-5" "02515" "MIB1_000194" "g.19345792C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs151095403" "0" "" "" "g.21765831C>T" "" "pathogenic" "" "0001003942" "0" "10" "18" "19321658" "19321658" "subst" "0" "02330" "MIB1_000195" "g.19321658C>T" "" "" "" "MIB1(NM_020774.4):c.114C>T (p.T38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001003943" "0" "50" "18" "19321715" "19321715" "del" "0" "01804" "MIB1_000196" "g.19321715del" "" "" "" "MIB1(NM_020774.3):c.171delT (p.(Ala58fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003944" "0" "50" "18" "19345780" "19345780" "subst" "0" "01804" "MIB1_000197" "g.19345780A>G" "" "" "" "MIB1(NM_020774.3):c.277A>G (p.(Ile93Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003945" "0" "10" "18" "19353668" "19353668" "subst" "8.5245E-5" "02330" "MIB1_000172" "g.19353668C>T" "" "" "" "MIB1(NM_020774.3):c.615C>T (p.Y205=), MIB1(NM_020774.4):c.615C>T (p.Y205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001003946" "0" "30" "18" "19358101" "19358101" "subst" "4.0714E-6" "01804" "MIB1_000015" "g.19358101C>G" "" "" "" "MIB1(NM_020774.3):c.674C>G (p.S225C, p.(Ser225Cys)), MIB1(NM_020774.4):c.674C>G (p.S225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003947" "0" "90" "18" "19378063" "19378063" "subst" "8.13981E-5" "01804" "MIB1_000092" "g.19378063C>T" "" "" "" "MIB1(NM_020774.3):c.1111C>T (p.(Arg371*)), MIB1(NM_020774.4):c.1111C>T (p.R371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003948" "0" "30" "18" "19378195" "19378195" "subst" "3.26275E-5" "01804" "MIB1_000093" "g.19378195T>C" "" "" "" "MIB1(NM_020774.3):c.1237+6T>C (p.?), MIB1(NM_020774.4):c.1237+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003949" "0" "50" "18" "19379886" "19379886" "subst" "4.0781E-6" "01804" "MIB1_000026" "g.19379886A>C" "" "" "" "MIB1(NM_020774.3):c.1322A>C (p.(Asn441Thr), p.N441T), MIB1(NM_020774.4):c.1322A>C (p.N441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003950" "0" "50" "18" "19423155" "19423155" "subst" "9.10613E-5" "02330" "MIB1_000042" "g.19423155C>T" "" "" "" "MIB1(NM_020774.3):c.2026C>T (p.R676*), MIB1(NM_020774.4):c.2026C>T (p.R676*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003951" "0" "50" "18" "19429293" "19429293" "del" "0" "01804" "MIB1_000198" "g.19429293del" "" "" "" "MIB1(NM_020774.3):c.2530delT (p.(Ser844fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003952" "0" "50" "18" "19429295" "19429295" "del" "0" "01804" "MIB1_000199" "g.19429295del" "" "" "" "MIB1(NM_020774.3):c.2532delT (p.(Pro845fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003953" "0" "50" "18" "19433180" "19433180" "subst" "0" "01804" "MIB1_000200" "g.19433180G>C" "" "" "" "MIB1(NM_020774.3):c.2665+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003955" "0" "30" "18" "19444613" "19444613" "subst" "0.000231576" "02326" "MIB1_000201" "g.19444613A>G" "" "" "" "MIB1(NM_020774.3):c.3007A>G (p.I1003V), MIB1(NM_020774.4):c.3007A>G (p.I1003V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007441" "0" "70" "18" "19444592" "19444592" "del" "0" "00006" "MIB1_000204" "g.19444592del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_020774.4:c2985T>TC (Arg996ProfsTer5)" "" "Germline" "" "" "0" "" "" "g.21864631del" "" "VUS" "" "0001007442" "0" "70" "18" "19345769" "19345769" "subst" "2.03201E-5" "00006" "MIB1_000202" "g.19345769G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs752605883" "0" "" "" "g.21765808G>A" "" "VUS" "" "0001007443" "0" "70" "18" "19437168" "19437168" "subst" "0" "00006" "MIB1_000203" "g.19437168G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs2042237336" "0" "" "" "g.21857207G>A" "" "VUS" "" "0001012935" "0" "70" "18" "19426926" "19426926" "subst" "0" "03779" "MIB1_000207" "g.19426926C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001015645" "0" "10" "18" "19353650" "19353650" "subst" "0" "02330" "MIB1_000205" "g.19353650T>C" "" "" "" "MIB1(NM_020774.4):c.597T>C (p.N199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015646" "0" "10" "18" "19359657" "19359657" "subst" "0" "02330" "MIB1_000206" "g.19359657T>G" "" "" "" "MIB1(NM_020774.4):c.908+11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015647" "0" "50" "18" "19433099" "19433099" "subst" "0" "02330" "MIB1_000208" "g.19433099A>G" "" "" "" "MIB1(NM_020774.4):c.2587-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015648" "0" "10" "18" "19433115" "19433115" "subst" "4.06458E-6" "02330" "MIB1_000209" "g.19433115G>C" "" "" "" "MIB1(NM_020774.4):c.2601G>C (p.V867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015649" "0" "50" "18" "19437158" "19437158" "del" "0" "02327" "MIB1_000210" "g.19437158del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015650" "0" "50" "18" "19444530" "19444530" "subst" "0" "02330" "MIB1_000211" "g.19444530T>C" "" "" "" "MIB1(NM_020774.4):c.2924T>C (p.F975S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015651" "0" "10" "18" "19444613" "19444613" "subst" "0.000231576" "02330" "MIB1_000201" "g.19444613A>G" "" "" "" "MIB1(NM_020774.3):c.3007A>G (p.I1003V), MIB1(NM_020774.4):c.3007A>G (p.I1003V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001022161" "0" "70" "18" "19395774" "19395774" "subst" "0" "04796" "MIB1_000166" "g.19395774G>C" "" "" "" "" "effect on RNA inclusion of intron sequences" "In vitro (cloned)" "" "" "0" "" "" "g.21815813G>C" "" "likely pathogenic" "" "0001027085" "0" "50" "18" "19359509" "19359509" "subst" "4.0624E-6" "02326" "MIB1_000082" "g.19359509C>T" "" "" "" "MIB1(NM_020774.3):c.771C>T (p.D257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027086" "0" "30" "18" "19424225" "19424225" "subst" "1.63661E-5" "02330" "MIB1_000212" "g.19424225A>G" "" "" "" "MIB1(NM_020774.4):c.2211+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030866" "0" "70" "18" "19321569" "19321569" "dup" "0" "03779" "MIB1_000213" "g.19321569dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001042352" "0" "50" "18" "19371481" "19371481" "subst" "0" "01804" "MIB1_000214" "g.19371481A>G" "" "" "" "MIB1(NM_020774.4):c.1055A>G (p.(Gln352Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042353" "0" "50" "18" "19378072" "19378072" "subst" "0" "01804" "MIB1_000215" "g.19378072C>T" "" "" "" "MIB1(NM_020774.4):c.1120C>T (p.(Gln374*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042354" "0" "50" "18" "19424063" "19424063" "subst" "8.12783E-6" "01804" "MIB1_000216" "g.19424063G>A" "" "" "" "MIB1(NM_020774.4):c.2060G>A (p.(Arg687His))" "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 MIB1 ## Count = 303 "{{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}}" "0000084798" "00024079" "50" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174His)" "3" "0000218401" "00024079" "50" "550" "0" "550" "0" "c.550T>G" "r.(?)" "p.(Trp184Gly)" "" "0000247494" "00024079" "10" "1479" "18" "1479" "18" "c.1479+18A>G" "r.(=)" "p.(=)" "" "0000247495" "00024079" "10" "1962" "17" "1962" "17" "c.1962+17A>G" "r.(=)" "p.(=)" "" "0000247496" "00024079" "10" "636" "7" "636" "7" "c.636+7A>C" "r.(=)" "p.(=)" "" "0000247498" "00024079" "10" "843" "0" "843" "0" "c.843A>T" "r.(?)" "p.(Thr281=)" "" "0000247508" "00024079" "50" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Asn409Asp)" "" "0000247513" "00024079" "10" "1053" "0" "1053" "0" "c.1053A>G" "r.(?)" "p.(Leu351=)" "" "0000247514" "00024079" "10" "1359" "0" "1359" "0" "c.1359A>G" "r.(?)" "p.(Arg453=)" "" "0000247530" "00024079" "10" "229" "14" "229" "14" "c.229+14A>G" "r.(=)" "p.(=)" "" "0000247531" "00024079" "10" "908" "8" "908" "8" "c.908+8A>G" "r.(=)" "p.(=)" "" "0000247532" "00024079" "10" "2050" "-15" "2050" "-15" "c.2050-15A>C" "r.(=)" "p.(=)" "" "0000247540" "00024079" "10" "2322" "0" "2322" "0" "c.2322A>G" "r.(?)" "p.(Gln774=)" "" "0000247543" "00024079" "50" "2285" "0" "2285" "0" "c.2285A>G" "r.(?)" "p.(Asn762Ser)" "" "0000247549" "00024079" "50" "1371" "4" "1371" "4" "c.1371+4A>C" "r.spl?" "p.?" "" "0000249408" "00024079" "30" "2121" "0" "2121" "0" "c.2121A>G" "r.(?)" "p.(Leu707=)" "" "0000249574" "00024079" "30" "1678" "-18" "1678" "-18" "c.1678-18del" "r.(=)" "p.(=)" "" "0000249606" "00024079" "70" "1994" "0" "1994" "0" "c.1994del" "r.(?)" "p.(Asn665ThrfsTer43)" "" "0000249787" "00024079" "50" "1322" "0" "1322" "0" "c.1322A>C" "r.(?)" "p.(Asn441Thr)" "" "0000250791" "00024079" "30" "636" "7" "636" "7" "c.636+7A>C" "r.(=)" "p.(=)" "" "0000251812" "00024079" "30" "2307" "0" "2307" "0" "c.2307A>G" "r.(?)" "p.(Arg769=)" "" "0000252304" "00024079" "30" "1093" "-20" "1093" "-20" "c.1093-20A>G" "r.(=)" "p.(=)" "" "0000252642" "00024079" "50" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Asn409Asp)" "" "0000253424" "00024079" "10" "1479" "18" "1479" "18" "c.1479+18A>G" "r.(=)" "p.(=)" "" "0000253425" "00024079" "10" "1962" "17" "1962" "17" "c.1962+17A>G" "r.(=)" "p.(=)" "" "0000254010" "00024079" "30" "636" "7" "636" "7" "c.636+7A>C" "r.(=)" "p.(=)" "" "0000254146" "00024079" "30" "843" "0" "843" "0" "c.843A>T" "r.(?)" "p.(Thr281=)" "" "0000279757" "00024079" "50" "1207" "0" "1207" "0" "c.1207G>T" "r.(?)" "p.(Ala403Ser)" "" "0000279758" "00024079" "10" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Glu46=)" "" "0000279759" "00024079" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Val490=)" "" "0000279760" "00024079" "70" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Ter)" "" "0000279761" "00024079" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000279762" "00024079" "10" "1830" "-18" "1830" "-18" "c.1830-18T>C" "r.(=)" "p.(=)" "" "0000279763" "00024079" "10" "1963" "-6" "1963" "-6" "c.1963-6G>A" "r.(=)" "p.(=)" "" "0000279764" "00024079" "10" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Leu779=)" "" "0000279765" "00024079" "10" "2445" "0" "2445" "0" "c.2445C>G" "r.(?)" "p.(Thr815=)" "" "0000279766" "00024079" "10" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Asn892=)" "" "0000279768" "00024079" "10" "2880" "6" "2880" "8" "c.2880+6_2880+8del" "r.(=)" "p.(=)" "" "0000279769" "00024079" "10" "603" "0" "603" "0" "c.603T>G" "r.(?)" "p.(Ala201=)" "" "0000279770" "00024079" "50" "674" "0" "674" "0" "c.674C>G" "r.(?)" "p.(Ser225Cys)" "" "0000279771" "00024079" "10" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Leu246=)" "" "0000279772" "00024079" "10" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Leu256=)" "" "0000279773" "00024079" "50" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Lys28SerfsTer23)" "" "0000282492" "00024079" "30" "1110" "0" "1110" "0" "c.1110C>A" "r.(?)" "p.(Gly370=)" "" "0000282493" "00024079" "50" "1207" "0" "1207" "0" "c.1207G>T" "r.(?)" "p.(Ala403Ser)" "" "0000282494" "00024079" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Glu46=)" "" "0000282495" "00024079" "90" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Gln473Ter)" "" "0000282496" "00024079" "50" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Arg575Cys)" "" "0000282497" "00024079" "30" "1830" "-18" "1830" "-18" "c.1830-18T>C" "r.(=)" "p.(=)" "" "0000282498" "00024079" "70" "2098" "0" "2098" "0" "c.2098del" "r.(?)" "p.(Asp700IlefsTer8)" "" "0000282499" "00024079" "30" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Asp765=)" "" "0000282500" "00024079" "30" "2746" "0" "2746" "0" "c.2746G>A" "r.(?)" "p.(Gly916Arg)" "" "0000282502" "00024079" "70" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Trp163Ter)" "" "0000282503" "00024079" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Asp30=)" "" "0000286577" "00024079" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Val490=)" "" "0000286578" "00024079" "70" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Ter)" "" "0000286579" "00024079" "50" "2669" "0" "2669" "0" "c.2669G>C" "r.(?)" "p.(Cys890Ser)" "" "0000286580" "00024079" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Pro130Leu)" "" "0000286581" "00024079" "30" "531" "14" "531" "14" "c.531+14C>G" "r.(=)" "p.(=)" "" "0000286582" "00024079" "30" "636" "19" "636" "19" "c.636+19T>C" "r.(=)" "p.(=)" "" "0000291795" "00024079" "50" "1207" "0" "1207" "0" "c.1207G>T" "r.(?)" "p.(Ala403Ser)" "" "0000291796" "00024079" "70" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Gln417Ter)" "" "0000291797" "00024079" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Val490=)" "" "0000291798" "00024079" "30" "1530" "0" "1530" "0" "c.1530C>T" "r.(?)" "p.(Gly510=)" "" "0000291799" "00024079" "10" "1830" "-18" "1830" "-18" "c.1830-18T>C" "r.(=)" "p.(=)" "" "0000291800" "00024079" "10" "1963" "-6" "1963" "-6" "c.1963-6G>A" "r.(=)" "p.(=)" "" "0000291801" "00024079" "50" "1999" "0" "1999" "0" "c.1999C>A" "r.(?)" "p.(Gln667Lys)" "" "0000291802" "00024079" "50" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Ter)" "" "0000291803" "00024079" "30" "2139" "0" "2139" "0" "c.2139T>C" "r.(?)" "p.(Ser713=)" "" "0000291804" "00024079" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Leu779=)" "" "0000291805" "00024079" "50" "2405" "0" "2405" "0" "c.2405G>A" "r.(?)" "p.(Gly802Asp)" "" "0000291806" "00024079" "50" "2468" "0" "2472" "0" "c.2468_2472del" "r.(?)" "p.(Ser823TyrfsTer30)" "" "0000291807" "00024079" "70" "2530" "0" "2532" "0" "c.2530_2532delinsC" "r.(?)" "p.(Ser844ProfsTer10)" "" "0000291808" "00024079" "30" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(Arg860=)" "" "0000291810" "00024079" "30" "2779" "8" "2779" "8" "c.2779+8G>A" "r.(=)" "p.(=)" "" "0000291812" "00024079" "30" "637" "-8" "637" "-8" "c.637-8C>G" "r.(=)" "p.(=)" "" "0000291813" "00024079" "50" "763" "0" "763" "0" "c.763G>C" "r.(?)" "p.(Asp255His)" "" "0000325842" "00024079" "50" "1247" "0" "1247" "0" "c.1247C>G" "r.(?)" "p.(Ser416Ter)" "" "0000342621" "00024079" "50" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Ter)" "" "0000347122" "00024079" "50" "1097" "0" "1097" "0" "c.1097T>A" "r.(?)" "p.(Leu366Ter)" "" "0000348945" "00024079" "50" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ser331Ter)" "" "0000405996" "00024079" "90" "2693" "0" "2694" "0" "c.2693_2694del" "r.(?)" "p.(Val898Alafs*7)" "" "0000407953" "00024079" "00" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174His)" "" "0000563978" "00024079" "30" "-17" "0" "-17" "0" "c.-17C>T" "r.(?)" "p.(=)" "" "0000563979" "00024079" "50" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000563980" "00024079" "50" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Ser2Gly)" "" "0000563981" "00024079" "10" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(His35=)" "" "0000563982" "00024079" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Glu46=)" "" "0000563983" "00024079" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Glu46=)" "" "0000563984" "00024079" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Glu46=)" "" "0000563985" "00024079" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Asn54=)" "" "0000563986" "00024079" "30" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Ala58Thr)" "" "0000563987" "00024079" "70" "198" "0" "198" "0" "c.198C>A" "r.(?)" "p.(Tyr66Ter)" "" "0000563988" "00024079" "10" "230" "-13" "230" "-13" "c.230-13C>T" "r.(=)" "p.(=)" "" "0000563989" "00024079" "10" "230" "-13" "230" "-13" "c.230-13C>T" "r.(=)" "p.(=)" "" "0000563990" "00024079" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Ter)" "" "0000563991" "00024079" "50" "402" "-5" "402" "-5" "c.402-5T>G" "r.spl?" "p.?" "" "0000563992" "00024079" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159Gln)" "" "0000563993" "00024079" "30" "532" "-19" "532" "-19" "c.532-19T>A" "r.(=)" "p.(=)" "" "0000563994" "00024079" "70" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Gly211AlafsTer5)" "" "0000563995" "00024079" "30" "674" "0" "674" "0" "c.674C>G" "r.(?)" "p.(Ser225Cys)" "" "0000563997" "00024079" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Asp257=)" "" "0000563998" "00024079" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Leu258=)" "" "0000563999" "00024079" "30" "783" "0" "783" "0" "c.783A>G" "r.(?)" "p.(Val261=)" "" "0000564000" "00024079" "10" "843" "0" "843" "0" "c.843A>T" "r.(?)" "p.(Thr281=)" "" "0000564001" "00024079" "70" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Trp304Ter)" "" "0000564002" "00024079" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318Gln)" "" "0000564003" "00024079" "50" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Ser331Leu)" "" "0000564004" "00024079" "30" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Ser331=)" "" "0000564005" "00024079" "50" "1036" "0" "1036" "0" "c.1036G>T" "r.(?)" "p.(Glu346Ter)" "" "0000564006" "00024079" "10" "1092" "3" "1092" "3" "c.1092+3A>G" "r.spl?" "p.?" "" "0000564007" "00024079" "30" "1092" "3" "1092" "3" "c.1092+3A>G" "r.spl?" "p.?" "" "0000564008" "00024079" "30" "1092" "3" "1092" "3" "c.1092+3A>G" "r.spl?" "p.?" "" "0000564009" "00024079" "50" "1096" "0" "1097" "0" "c.1096_1097del" "r.(?)" "p.(Leu366ArgfsTer2)" "" "0000564010" "00024079" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0000564011" "00024079" "50" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Asn409Asp)" "" "0000564012" "00024079" "30" "1237" "6" "1237" "6" "c.1237+6T>C" "r.(=)" "p.(=)" "" "0000564013" "00024079" "30" "1238" "-11" "1238" "-11" "c.1238-11A>T" "r.(=)" "p.(=)" "" "0000564015" "00024079" "70" "1371" "1" "1371" "1" "c.1371+1G>A" "r.spl?" "p.?" "" "0000564016" "00024079" "10" "1372" "-12" "1372" "-12" "c.1372-12T>A" "r.(=)" "p.(=)" "" "0000564017" "00024079" "70" "1399" "0" "1402" "0" "c.1399_1402dup" "r.(?)" "p.(Met468SerfsTer6)" "" "0000564018" "00024079" "70" "1512" "0" "1512" "0" "c.1512del" "r.(?)" "p.(Ala505LeufsTer9)" "" "0000564019" "00024079" "50" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Ter)" "" "0000564020" "00024079" "30" "1752" "0" "1752" "0" "c.1752A>T" "r.(?)" "p.(Glu584Asp)" "" "0000564021" "00024079" "50" "1771" "0" "1771" "0" "c.1771A>T" "r.(?)" "p.(Ile591Phe)" "" "0000564022" "00024079" "30" "1771" "0" "1771" "0" "c.1771A>T" "r.(?)" "p.(Ile591Phe)" "" "0000564023" "00024079" "30" "1830" "-18" "1830" "-18" "c.1830-18T>C" "r.(=)" "p.(=)" "" "0000564024" "00024079" "30" "1830" "-18" "1830" "-18" "c.1830-18T>C" "r.(=)" "p.(=)" "" "0000564025" "00024079" "10" "1963" "-6" "1963" "-6" "c.1963-6G>A" "r.(=)" "p.(=)" "" "0000564026" "00024079" "50" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(His671Tyr)" "" "0000564027" "00024079" "50" "2100" "0" "2100" "0" "c.2100T>G" "r.(?)" "p.(Asp700Glu)" "" "0000564028" "00024079" "30" "2112" "0" "2112" "0" "c.2112T>C" "r.(?)" "p.(His704=)" "" "0000564029" "00024079" "50" "2236" "0" "2236" "0" "c.2236G>C" "r.(?)" "p.(Gly746Arg)" "" "0000564030" "00024079" "10" "2238" "0" "2238" "0" "c.2238G>T" "r.(?)" "p.(Gly746=)" "" "0000564031" "00024079" "50" "2273" "0" "2273" "0" "c.2273T>C" "r.(?)" "p.(Phe758Ser)" "" "0000564032" "00024079" "70" "2305" "0" "2305" "0" "c.2305C>T" "r.(?)" "p.(Arg769Ter)" "" "0000564033" "00024079" "50" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Pro776Ser)" "" "0000564034" "00024079" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Leu779=)" "" "0000564035" "00024079" "10" "2393" "10" "2393" "10" "c.2393+10A>G" "r.(=)" "p.(=)" "" "0000564036" "00024079" "10" "2393" "10" "2393" "10" "c.2393+10A>G" "r.(=)" "p.(=)" "" "0000564037" "00024079" "50" "2410" "0" "2410" "0" "c.2410C>T" "r.(?)" "p.(Arg804Trp)" "" "0000564038" "00024079" "30" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Arg804Gln)" "" "0000564039" "00024079" "30" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Arg804Gln)" "" "0000564040" "00024079" "30" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Arg804Gln)" "" "0000564041" "00024079" "30" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Arg804Gln)" "" "0000564042" "00024079" "30" "2445" "0" "2445" "0" "c.2445C>G" "r.(?)" "p.(Thr815=)" "" "0000564043" "00024079" "30" "2445" "0" "2445" "0" "c.2445C>G" "r.(?)" "p.(Thr815=)" "" "0000564044" "00024079" "70" "2456" "0" "2456" "0" "c.2456del" "r.(?)" "p.(Cys819LeufsTer7)" "" "0000564045" "00024079" "10" "2586" "17" "2586" "17" "c.2586+17A>G" "r.(=)" "p.(=)" "" "0000564046" "00024079" "30" "2587" "-15" "2587" "-15" "c.2587-15C>G" "r.(=)" "p.(=)" "" "0000564047" "00024079" "30" "2587" "-12" "2587" "-11" "c.2587-12_2587-11del" "r.(=)" "p.(=)" "" "0000564048" "00024079" "70" "2589" "0" "2590" "0" "c.2589_2590dup" "r.(?)" "p.(Glu864ValfsTer31)" "" "0000564049" "00024079" "30" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Asn892=)" "" "0000564050" "00024079" "70" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Arg901Ter)" "" "0000564051" "00024079" "30" "2703" "0" "2703" "0" "c.2703A>C" "r.(?)" "p.(Arg901=)" "" "0000564052" "00024079" "70" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000564054" "00024079" "30" "2779" "8" "2779" "8" "c.2779+8G>A" "r.(=)" "p.(=)" "" "0000564056" "00024079" "30" "2841" "0" "2841" "0" "c.2841G>A" "r.(?)" "p.(Val947=)" "" "0000564057" "00024079" "50" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Val965Met)" "" "0000616960" "00024079" "10" "-17" "0" "-17" "0" "c.-17C>T" "r.(?)" "p.(=)" "" "0000616962" "00024079" "50" "305" "0" "306" "0" "c.305_306del" "r.(?)" "p.(Glu102ValfsTer5)" "" "0000616963" "00024079" "70" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Cys109Ter)" "" "0000616964" "00024079" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "" "0000616965" "00024079" "30" "636" "7" "636" "7" "c.636+7A>C" "r.(=)" "p.(=)" "" "0000616966" "00024079" "30" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(His230Arg)" "" "0000616967" "00024079" "30" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Leu246=)" "" "0000616968" "00024079" "30" "1092" "3" "1092" "3" "c.1092+3A>G" "r.spl?" "p.?" "" "0000616969" "00024079" "30" "1093" "-4" "1093" "-4" "c.1093-4dup" "r.spl?" "p.?" "" "0000616970" "00024079" "50" "1307" "0" "1307" "0" "c.1307T>G" "r.(?)" "p.(Val436Gly)" "" "0000616971" "00024079" "50" "1307" "0" "1307" "0" "c.1307T>G" "r.(?)" "p.(Val436Gly)" "" "0000616972" "00024079" "50" "1322" "0" "1322" "0" "c.1322A>C" "r.(?)" "p.(Asn441Thr)" "" "0000616973" "00024079" "10" "1372" "-12" "1372" "-12" "c.1372-12T>A" "r.(=)" "p.(=)" "" "0000616974" "00024079" "10" "1372" "-11" "1372" "-11" "c.1372-11A>T" "r.(=)" "p.(=)" "" "0000616975" "00024079" "70" "1372" "-1" "1372" "-1" "c.1372-1G>C" "r.spl?" "p.?" "" "0000616976" "00024079" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Gly464=)" "" "0000616977" "00024079" "50" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Gly553Asp)" "" "0000616978" "00024079" "50" "1694" "0" "1694" "0" "c.1694C>A" "r.(?)" "p.(Thr565Asn)" "" "0000616979" "00024079" "30" "1829" "12" "1829" "12" "c.1829+12dup" "r.(=)" "p.(=)" "" "0000616980" "00024079" "50" "1967" "0" "1967" "0" "c.1967A>C" "r.(?)" "p.(Asn656Thr)" "" "0000616981" "00024079" "50" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Ter)" "" "0000616982" "00024079" "30" "2307" "0" "2307" "0" "c.2307A>G" "r.(?)" "p.(Arg769=)" "" "0000616983" "00024079" "30" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Ser775Leu)" "" "0000616984" "00024079" "70" "2418" "0" "2421" "0" "c.2418_2421del" "r.(?)" "p.(Ser807Ter)" "" "0000616985" "00024079" "10" "2881" "-14" "2881" "-14" "c.2881-14A>G" "r.(=)" "p.(=)" "" "0000616986" "00024079" "50" "2974" "0" "2974" "0" "c.2974T>C" "r.(?)" "p.(Cys992Arg)" "" "0000623808" "00024079" "50" "870" "0" "870" "0" "c.870del" "r.(?)" "p.(Asp291IlefsTer5)" "" "0000623809" "00024079" "70" "2305" "0" "2305" "0" "c.2305C>T" "r.(?)" "p.(Arg769Ter)" "" "0000649769" "00024079" "30" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "" "0000658316" "00024079" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000658317" "00024079" "50" "347" "0" "347" "0" "c.347A>T" "r.(?)" "p.(Asp116Val)" "" "0000658318" "00024079" "30" "531" "7" "531" "7" "c.531+7T>G" "r.(=)" "p.(=)" "" "0000658319" "00024079" "30" "674" "0" "674" "0" "c.674C>G" "r.(?)" "p.(Ser225Cys)" "" "0000658320" "00024079" "30" "2212" "-4" "2212" "-4" "c.2212-4G>A" "r.spl?" "p.?" "" "0000681094" "00024079" "50" "401" "2" "401" "2" "c.401+2T>C" "r.spl?" "p.?" "" "0000681095" "00024079" "10" "504" "0" "504" "0" "c.504A>G" "r.(?)" "p.(Gln168=)" "" "0000681096" "00024079" "30" "603" "0" "603" "0" "c.603T>G" "r.(?)" "p.(Ala201=)" "" "0000681097" "00024079" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Val490=)" "" "0000681098" "00024079" "50" "1771" "0" "1771" "0" "c.1771A>T" "r.(?)" "p.(Ile591Phe)" "" "0000681099" "00024079" "50" "1784" "0" "1784" "0" "c.1784A>G" "r.(?)" "p.(Asn595Ser)" "" "0000681100" "00024079" "30" "2779" "5" "2779" "5" "c.2779+5G>A" "r.spl?" "p.?" "" "0000692548" "00024079" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000692549" "00024079" "30" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Leu246=)" "" "0000692550" "00024079" "50" "1322" "0" "1322" "0" "c.1322A>C" "r.(?)" "p.(Asn441Thr)" "" "0000692551" "00024079" "30" "1545" "0" "1545" "0" "c.1545A>T" "r.(?)" "p.(Val515=)" "" "0000692552" "00024079" "10" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(Ser775=)" "" "0000692553" "00024079" "50" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Ter)" "" "0000704367" "00024079" "50" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318*)" "" "0000726811" "00024079" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159*)" "" "0000726812" "00024079" "30" "703" "5" "703" "5" "c.703+5G>A" "r.spl?" "p.?" "" "0000726813" "00024079" "30" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Leu246=)" "" "0000726814" "00024079" "70" "960" "0" "961" "0" "c.960_961insTCTC" "r.(?)" "p.(Asp321Serfs*18)" "" "0000726815" "00024079" "70" "961" "0" "962" "0" "c.961_962del" "r.(?)" "p.(Asp321Cysfs*16)" "" "0000726816" "00024079" "30" "1226" "0" "1226" "0" "c.1226A>G" "r.(?)" "p.(Asn409Ser)" "" "0000726817" "00024079" "30" "1372" "-12" "1372" "-12" "c.1372-12T>A" "r.(=)" "p.(=)" "" "0000726818" "00024079" "10" "1677" "20" "1677" "20" "c.1677+20A>G" "r.(=)" "p.(=)" "" "0000726819" "00024079" "30" "1771" "0" "1771" "0" "c.1771A>T" "r.(?)" "p.(Ile591Phe)" "" "0000726820" "00024079" "50" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Ter)" "" "0000808390" "00024079" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Ter)" "" "0000808391" "00024079" "70" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Cys231*)" "" "0000808392" "00024079" "50" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ser331Ter)" "" "0000808393" "00024079" "10" "1410" "0" "1410" "0" "c.1410T>C" "r.(?)" "p.(Ala470=)" "" "0000808394" "00024079" "30" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(His502=)" "" "0000808395" "00024079" "10" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(Arg860=)" "" "0000808396" "00024079" "50" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Arg901Ter)" "" "0000855196" "00024079" "10" "-5" "0" "-5" "0" "c.-5C>T" "r.(?)" "p.(=)" "" "0000855197" "00024079" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Asp72=)" "" "0000855198" "00024079" "30" "843" "0" "843" "0" "c.843A>T" "r.(?)" "p.(Thr281=)" "" "0000855199" "00024079" "10" "1238" "-11" "1238" "-11" "c.1238-11A>T" "r.(=)" "p.(=)" "" "0000855200" "00024079" "50" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Gln559His)" "" "0000855201" "00024079" "70" "1748" "0" "1748" "0" "c.1748del" "r.(?)" "p.(Leu583Trpfs*23)" "" "0000855202" "00024079" "50" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Tyr633Cys)" "" "0000855203" "00024079" "50" "2051" "0" "2051" "0" "c.2051T>G" "r.(?)" "p.(Leu684Arg)" "" "0000855204" "00024079" "30" "2586" "17" "2586" "17" "c.2586+17A>G" "r.(=)" "p.(=)" "" "0000865593" "00024079" "90" "229" "1" "229" "1" "c.229+1G>T" "r.spl?" "p.?" "" "0000865594" "00024079" "10" "229" "10" "229" "10" "c.229+10G>C" "r.(=)" "p.(=)" "" "0000865595" "00024079" "70" "703" "2" "703" "2" "c.703+2T>G" "r.spl?" "p.?" "" "0000865596" "00024079" "50" "2230" "0" "2230" "0" "c.2230A>G" "r.(?)" "p.(Thr744Ala)" "" "0000865597" "00024079" "30" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(Ser775=)" "" "0000894405" "00024079" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Arg20=)" "" "0000894406" "00024079" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159*)" "" "0000894407" "00024079" "30" "531" "7" "531" "7" "c.531+7T>G" "r.(=)" "p.(=)" "" "0000894408" "00024079" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Tyr205=)" "" "0000894409" "00024079" "10" "1093" "-15" "1093" "-15" "c.1093-15A>G" "r.(=)" "p.(=)" "" "0000894410" "00024079" "10" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Tyr392=)" "" "0000894411" "00024079" "30" "1372" "-11" "1372" "-11" "c.1372-11A>T" "r.(=)" "p.(=)" "" "0000894412" "00024079" "50" "1576" "0" "1576" "0" "c.1576C>T" "r.(?)" "p.(Arg526*)" "" "0000894413" "00024079" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(His644=)" "" "0000894414" "00024079" "50" "1949" "0" "1949" "0" "c.1949T>C" "r.(?)" "p.(Leu650Pro)" "" "0000894415" "00024079" "10" "2307" "0" "2307" "0" "c.2307A>G" "r.(?)" "p.(Arg769=)" "" "0000894416" "00024079" "50" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Arg901Ter)" "" "0000894417" "00024079" "10" "2835" "0" "2835" "0" "c.2835A>G" "r.(?)" "p.(Ala945=)" "" "0000894418" "00024079" "50" "2936" "0" "2936" "0" "c.2936A>G" "r.(?)" "p.(His979Arg)" "" "0000894419" "00024079" "50" "3022" "0" "3022" "0" "c.*1C>G" "r.(=)" "p.(=)" "" "0000915009" "00024079" "30" "1093" "-8" "1093" "-8" "c.1093-8dup" "r.(=)" "p.(=)" "" "0000915010" "00024079" "30" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Leu638=)" "" "0000915011" "00024079" "10" "1962" "17" "1962" "17" "c.1962+17A>G" "r.(=)" "p.(=)" "" "0000915012" "00024079" "50" "2825" "0" "2825" "0" "c.2825A>T" "r.(?)" "p.(Asn942Ile)" "" "0000915013" "00024079" "50" "2983" "0" "2983" "0" "c.2983T>A" "r.(?)" "p.(Cys995Ser)" "" "0000926700" "00024079" "10" "532" "-20" "532" "-20" "c.532-20C>T" "r.(=)" "p.(=)" "" "0000930917" "00024079" "50" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Lys28SerfsTer23)" "" "0000930918" "00024079" "50" "298" "0" "298" "0" "c.298T>G" "r.(?)" "p.(Cys100Gly)" "" "0000930919" "00024079" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Ile)" "" "0000930920" "00024079" "50" "2131" "0" "2131" "0" "c.2131A>G" "r.(?)" "p.(Thr711Ala)" "" "0000930921" "00024079" "10" "2640" "0" "2640" "0" "c.2640C>T" "r.(?)" "p.(=)" "" "0000951085" "00024079" "50" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Arg159Leu)" "" "0000951086" "00024079" "10" "1963" "-6" "1963" "-6" "c.1963-6G>A" "r.(=)" "p.(=)" "" "0000951087" "00024079" "50" "2050" "-1" "2050" "-1" "c.2050-1G>C" "r.spl?" "p.?" "" "0000969323" "00024079" "50" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Val488Met)" "" "0000969324" "00024079" "10" "2757" "0" "2757" "0" "c.2757A>G" "r.(?)" "p.(=)" "" "0000982969" "00024079" "10" "2121" "0" "2121" "0" "c.2121A>G" "r.(?)" "p.(Leu707=)" "" "0000989714" "00024079" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Ter)" "" "0000989715" "00024079" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Ter)" "" "0001003942" "00024079" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "" "0001003943" "00024079" "50" "171" "0" "171" "0" "c.171del" "r.(?)" "p.(Ala58Profs*63)" "" "0001003944" "00024079" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0001003945" "00024079" "10" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Tyr205=)" "" "0001003946" "00024079" "30" "674" "0" "674" "0" "c.674C>G" "r.(?)" "p.(Ser225Cys)" "" "0001003947" "00024079" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001003948" "00024079" "30" "1237" "6" "1237" "6" "c.1237+6T>C" "r.(=)" "p.(=)" "" "0001003949" "00024079" "50" "1322" "0" "1322" "0" "c.1322A>C" "r.(?)" "p.(Asn441Thr)" "" "0001003950" "00024079" "50" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Ter)" "" "0001003951" "00024079" "50" "2530" "0" "2530" "0" "c.2530del" "r.(?)" "p.(Ser844Leufs*50)" "" "0001003952" "00024079" "50" "2532" "0" "2532" "0" "c.2532del" "r.(?)" "p.(Pro845Hisfs*49)" "" "0001003953" "00024079" "50" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "" "0001003955" "00024079" "30" "3007" "0" "3007" "0" "c.3007A>G" "r.(?)" "p.(Ile1003Val)" "" "0001007441" "00024079" "70" "2986" "0" "2986" "0" "c.2986del" "r.(?)" "p.(Arg996AlafsTer13)" "" "0001007442" "00024079" "70" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89His)" "" "0001007443" "00024079" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Gly915Arg)" "" "0001012935" "00024079" "70" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Gln745Ter)" "" "0001015645" "00024079" "10" "597" "0" "597" "0" "c.597T>C" "r.(?)" "p.(=)" "" "0001015646" "00024079" "10" "908" "11" "908" "11" "c.908+11T>G" "r.(=)" "p.(=)" "" "0001015647" "00024079" "50" "2587" "-2" "2587" "-2" "c.2587-2A>G" "r.spl?" "p.?" "" "0001015648" "00024079" "10" "2601" "0" "2601" "0" "c.2601G>C" "r.(?)" "p.(=)" "" "0001015649" "00024079" "50" "2733" "0" "2733" "0" "c.2733del" "r.(?)" "p.(Met912Cysfs*56)" "" "0001015650" "00024079" "50" "2924" "0" "2924" "0" "c.2924T>C" "r.(?)" "p.(Phe975Ser)" "" "0001015651" "00024079" "10" "3007" "0" "3007" "0" "c.3007A>G" "r.(?)" "p.(Ile1003Val)" "" "0001022161" "00024079" "70" "1677" "0" "1677" "0" "c.1677G>C" "r.[1677delins[C;1677+1_1677+72],=]" "p.[Asp560ValfsTer17,Gln559His]" "11" "0001027085" "00024079" "50" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Asp257=)" "" "0001027086" "00024079" "30" "2211" "11" "2211" "11" "c.2211+11A>G" "r.(=)" "p.(=)" "" "0001030866" "00024079" "70" "25" "0" "25" "0" "c.25dup" "r.(?)" "p.(Val9GlyfsTer73)" "" "0001042352" "00024079" "50" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(Gln352Arg)" "" "0001042353" "00024079" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Gln374*)" "" "0001042354" "00024079" "50" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Arg687His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000054785" "0000084798" "0000129256" "0000218401" "0000177978" "0000405996" "0000184015" "0000407953" "0000293080" "0000649769" "0000321494" "0000704367" "0000454813" "0000989714" "0000454814" "0000989715" "0000455334" "0001007441" "0000455335" "0001007442" "0000455336" "0001007443" "0000462634" "0001022161"