### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUC4) # 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}}" "MUC4" "mucin 4, cell surface associated" "3" "q29" "unknown" "NG_053117.1" "UD_133491062134" "" "https://www.LOVD.nl/MUC4" "" "1" "7514" "4585" "158372" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MUC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-23 14:16:29" "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}}" "00014071" "MUC4" "transcript variant 1" "003" "NM_018406.6" "" "NP_060876.5" "" "" "" "-156" "16650" "16239" "195538844" "195473636" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00844" "MPPH1" "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1)" "AD" "603387" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00056046" "" "" "" "3" "" "00006" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues)" "M" "no" "" ">16y" "0" "" "" "European" "" "00225725" "" "" "" "3" "" "00006" "{PMID:Nakhro 2013:23749797}" "3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "no" "Korea" "" "0" "" "" "" "23749797-FamFC478" "00296733" "" "" "" "1" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, 1 affected, unaffected parents" "M" "no" "" "" "0" "" "" "Asia" "EG76;FamAPatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00056046" "00844" "00225725" "05113" "00296733" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00844, 04214, 05113 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000042702" "00844" "00056046" "00006" "Familial" "16y" "mild developmental delay particularly involving speech, later diagnosed with Asperger syndrome; 18m-third ventriculostomy for progressive ventriculomegaly (HP:0002119), no seizures; 12.5y MRI-brain striking megalencephaly (HP:0001355), bilateral perisylvian polymicrogyria (HP:0002126), borderline cerebellar tonsillar ectopia, moderately thick corpus callosum, no vascular malformations, no digital anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159))" "" "" "ventriculomegaly (HP:0002119)" "" "" "" "" "" "" "0000170836" "05113" "00225725" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CMT-4B3" "Charcot-Marie-Tooth disease" "0000224134" "04214" "00296733" "00006" "Familial, autosomal recessive" "35y" "5y-nyctalopia (HP:0000662), 18y-field constriction (HP:0001133); fundus peripheral retinal atrophy (HP:0200070), vessel attenuation (HP:?), bony spicules (HP:0007737); 20y-ERG photopic responses severely reduced; Goldmann visual fields reduced to 30 degrees with preserved temporal islands, early posterior subcapsular cataract (HP:0007787)" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056001" "00056046" "1" "00006" "00006" "2015-12-08 12:21:40" "" "" "SEQ-NG" "DNA" "" "" "0000226792" "00225725" "1" "00006" "00006" "2019-02-23 14:05:19" "" "" "SEQ" "DNA" "" "WES" "0000297843" "00296733" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000056001" "MUC4" "0000056001" "RREB1" "0000056001" "UNC80" "0000056001" "ZNF717" "0000226792" "SBF1" "0000297843" "REEP6" ## 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 = 69 "{{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}}" "0000086036" "1" "50" "3" "195507461" "195507461" "subst" "0" "00006" "MUC4_000001" "g.195507461G>A" "" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "" "Pro3536Ser" "" "Germline" "no" "" "0" "" "" "g.195780590G>A" "" "VUS" "" "0000086037" "2" "50" "3" "195508127" "195508127" "subst" "0" "00006" "MUC4_000002" "g.195508127G>C" "" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "" "Pro3314Ala" "" "Germline" "no" "" "0" "" "" "g.195781256G>C" "" "VUS" "" "0000292172" "0" "30" "3" "195512356" "195512356" "subst" "0" "01943" "MUC4_000009" "g.195512356G>A" "" "" "" "MUC4(NM_018406.6):c.6095C>T (p.P2032L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.195785485G>A" "" "likely benign" "" "0000292173" "0" "30" "3" "195512028" "195512028" "subst" "0" "01943" "MUC4_000008" "g.195512028G>A" "" "" "" "MUC4(NM_018406.6):c.6423C>T (p.D2141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.195785157G>A" "" "likely benign" "" "0000292174" "0" "30" "3" "195510910" "195510910" "subst" "0" "01943" "MUC4_000007" "g.195510910G>T" "" "" "" "MUC4(NM_018406.6):c.7541C>A (p.P2514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.195784039G>T" "" "likely benign" "" "0000459824" "1" "30" "3" "195510396" "195510396" "subst" "0" "00006" "MUC4_000015" "g.195510396A>C" "0.472 in controls" "{PMID:Nakhro 2013:23749797}" "" "T8055G" "" "Germline" "" "" "0" "" "" "g.195783525A>C" "" "benign" "" "0000459825" "2" "30" "3" "195510310" "195510310" "subst" "0" "00006" "MUC4_000016" "g.195510310T>G" "0.650 in controls" "{PMID:Nakhro 2013:23749797}" "" "A8141C" "" "Germline" "" "" "0" "" "" "g.195783439T>G" "" "benign" "" "0000518826" "0" "30" "3" "195481127" "195481127" "subst" "0.000443865" "01943" "MUC4_000017" "g.195481127C>G" "" "" "" "MUC4(NM_018406.6):c.15285G>C (p.E5095D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195754256C>G" "" "likely benign" "" "0000518827" "0" "30" "3" "195486012" "195486012" "subst" "7.31184E-5" "01943" "MUC4_000018" "g.195486012G>C" "" "" "" "MUC4(NM_018406.6):c.14969C>G (p.T4990S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195759141G>C" "" "likely benign" "" "0000518828" "0" "30" "3" "195505898" "195505898" "subst" "0" "01943" "MUC4_000019" "g.195505898C>A" "" "" "" "MUC4(NM_018406.6):c.12553G>T (p.A4185S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195779027C>A" "" "likely benign" "" "0000518830" "0" "30" "3" "195507358" "195507358" "subst" "0" "01804" "MUC4_000021" "g.195507358G>T" "" "" "" "MUC4(NM_018406.6):c.11093C>A (p.(Pro3698His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195780487G>T" "" "likely benign" "" "0000518835" "0" "30" "3" "195508021" "195508021" "subst" "0" "01943" "MUC4_000026" "g.195508021C>A" "" "" "" "MUC4(NM_018406.6):c.10430G>T (p.S3477I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195781150C>A" "" "likely benign" "" "0000518837" "0" "30" "3" "195508451" "195508546" "del" "0" "01804" "MUC4_000028" "g.195508451_195508546del" "" "" "" "MUC4(NM_018406.6):c.9914_10009del (p.(Val3305_Ser3336del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195781580_195781675del" "" "likely benign" "" "0000518841" "0" "30" "3" "195509429" "195509524" "del" "0" "01804" "MUC4_000032" "g.195509429_195509524del" "" "" "" "MUC4(NM_018406.6):c.8936_9031del (p.(Asp2979_Pro3010del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195782558_195782653del" "" "likely benign" "" "0000518842" "0" "30" "3" "195509909" "195510004" "del" "0" "01804" "MUC4_000033" "g.195509909_195510004del" "" "" "" "MUC4(NM_018406.6):c.8477_8572del (p.(Phe2826_Val2857del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195783038_195783133del" "" "likely benign" "" "0000518843" "0" "30" "3" "195510217" "195510360" "del" "0" "01804" "MUC4_000034" "g.195510217_195510360del" "" "" "" "MUC4(NM_018406.6):c.8110_8253del (p.(Ser2704_Thr2751del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195783346_195783489del" "" "likely benign" "" "0000518844" "0" "30" "3" "195510227" "195510227" "subst" "0" "01804" "MUC4_000035" "g.195510227T>C" "" "" "" "MUC4(NM_018406.6):c.8224A>G (p.(Thr2742Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195783356T>C" "" "likely benign" "" "0000518845" "0" "30" "3" "195510341" "195510484" "del" "0" "01804" "MUC4_000036" "g.195510341_195510484del" "" "" "" "MUC4(NM_018406.6):c.7981_8124del (p.(Ser2661_Thr2708del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195783470_195783613del" "" "likely benign" "" "0000518847" "0" "30" "3" "195512421" "195512421" "subst" "0" "01943" "MUC4_000038" "g.195512421A>C" "" "" "" "MUC4(NM_018406.6):c.6030T>G (p.S2010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195785550A>C" "" "likely benign" "" "0000518848" "0" "30" "3" "195512505" "195512505" "subst" "0" "01943" "MUC4_000039" "g.195512505G>T" "" "" "" "MUC4(NM_018406.6):c.5946C>A (p.A1982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195785634G>T" "" "likely benign" "" "0000518851" "0" "10" "3" "195514455" "195514455" "subst" "0" "01943" "MUC4_000042" "g.195514455A>G" "" "" "" "MUC4(NM_018406.6):c.3996T>C (p.T1332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195787584A>G" "" "benign" "" "0000518853" "0" "30" "3" "195516237" "195516237" "subst" "5.68542E-5" "01943" "MUC4_000044" "g.195516237A>G" "" "" "" "MUC4(NM_018406.6):c.2214T>C (p.L738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195789366A>G" "" "likely benign" "" "0000518854" "0" "50" "3" "195516242" "195516242" "subst" "0" "01943" "MUC4_000045" "g.195516242C>T" "" "" "" "MUC4(NM_018406.6):c.2209G>A (p.A737T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195789371C>T" "" "VUS" "" "0000518855" "0" "30" "3" "195518067" "195518067" "subst" "5.30604E-5" "01943" "MUC4_000046" "g.195518067G>T" "" "" "" "MUC4(NM_018406.6):c.384C>A (p.T128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195791196G>T" "" "likely benign" "" "0000518856" "0" "30" "3" "195518131" "195518131" "subst" "0.00013664" "01943" "MUC4_000047" "g.195518131A>G" "" "" "" "MUC4(NM_018406.6):c.320T>C (p.V107A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195791260A>G" "" "likely benign" "" "0000518857" "0" "30" "3" "195518248" "195518248" "subst" "9.34033E-5" "01943" "MUC4_000048" "g.195518248T>C" "" "" "" "MUC4(NM_018406.6):c.203A>G (p.Q68R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195791377T>C" "" "likely benign" "" "0000608458" "0" "30" "3" "195507064" "195507064" "subst" "0" "01804" "MUC4_000049" "g.195507064G>C" "" "" "" "MUC4(NM_018406.6):c.11387C>G (p.(Thr3796Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195780193G>C" "" "likely benign" "" "0000608459" "0" "30" "3" "195507324" "195507324" "subst" "0" "01804" "MUC4_000050" "g.195507324G>C" "" "" "" "MUC4(NM_018406.6):c.11127C>G (p.(His3709Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195780453G>C" "" "likely benign" "" "0000654867" "0" "30" "3" "195481196" "195481196" "subst" "1.63689E-5" "01943" "MUC4_000051" "g.195481196C>T" "" "" "" "MUC4(NM_018406.6):c.15216G>A (p.E5072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195754325C>T" "" "likely benign" "" "0000660536" "1" "50" "3" "195508451" "195508451" "subst" "0" "00006" "MUC4_000052" "g.195508451G>T" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "" "" "0" "" "" "g.195781580G>T" "" "VUS" "" "0000660537" "1" "50" "3" "195508453" "195508453" "subst" "0" "00006" "MUC4_000053" "g.195508453C>T" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "" "" "0" "" "" "g.195781582C>T" "" "VUS" "" "0000660538" "1" "50" "3" "195508454" "195508454" "subst" "0" "00006" "MUC4_000054" "g.195508454T>C" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "" "" "0" "" "" "g.195781583T>C" "" "VUS" "" "0000676912" "0" "50" "3" "195491937" "195491937" "subst" "1.62774E-5" "01943" "MUC4_000055" "g.195491937C>T" "" "" "" "MUC4(NM_018406.6):c.13855G>A (p.V4619M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676914" "0" "30" "3" "195517414" "195517414" "subst" "0.000649857" "01943" "MUC4_000057" "g.195517414G>A" "" "" "" "MUC4(NM_018406.6):c.1037C>T (p.P346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689002" "0" "50" "3" "195507169" "195507169" "subst" "0" "01943" "MUC4_000058" "g.195507169A>G" "" "" "" "MUC4(NM_018406.6):c.11282T>C (p.L3761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689003" "0" "30" "3" "195507276" "195507276" "subst" "0" "01943" "MUC4_000059" "g.195507276G>A" "" "" "" "MUC4(NM_018406.6):c.11175C>T (p.H3725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689004" "0" "30" "3" "195508335" "195508335" "subst" "0" "01943" "MUC4_000060" "g.195508335A>T" "" "" "" "MUC4(NM_018406.6):c.10116T>A (p.G3372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689005" "0" "50" "3" "195509964" "195509964" "subst" "0" "01943" "MUC4_000061" "g.195509964A>C" "" "" "" "MUC4(NM_018406.6):c.8487T>G (p.H2829Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689006" "0" "30" "3" "195510952" "195510952" "subst" "0" "01943" "MUC4_000062" "g.195510952G>C" "" "" "" "MUC4(NM_018406.6):c.7499C>G (p.T2500S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689007" "0" "30" "3" "195512407" "195512407" "subst" "0" "01943" "MUC4_000063" "g.195512407G>C" "" "" "" "MUC4(NM_018406.6):c.6044C>G (p.T2015S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689008" "0" "30" "3" "195513145" "195513145" "subst" "0" "01943" "MUC4_000064" "g.195513145A>G" "" "" "" "MUC4(NM_018406.6):c.5306T>C (p.V1769A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801123" "0" "30" "3" "195489766" "195489766" "subst" "0" "01943" "MUC4_000065" "g.195489766G>A" "" "" "" "MUC4(NM_018406.6):c.14304C>T (p.N4768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801124" "0" "30" "3" "195505935" "195505935" "subst" "0" "01943" "MUC4_000066" "g.195505935A>C" "" "" "" "MUC4(NM_018406.6):c.12516T>G (p.G4172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801125" "0" "30" "3" "195508632" "195508632" "subst" "0" "01943" "MUC4_000067" "g.195508632T>A" "" "" "" "MUC4(NM_018406.6):c.9819A>T (p.A3273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801126" "0" "30" "3" "195517692" "195517692" "subst" "1.62462E-5" "01943" "MUC4_000068" "g.195517692G>C" "" "" "" "MUC4(NM_018406.6):c.759C>G (p.V253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801127" "0" "30" "3" "195518033" "195518033" "subst" "0" "01943" "MUC4_000069" "g.195518033T>C" "" "" "" "MUC4(NM_018406.6):c.418A>G (p.M140V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850208" "0" "30" "3" "195512310" "195512310" "subst" "0" "01943" "MUC4_000073" "g.195512310G>C" "" "" "" "MUC4(NM_018406.6):c.6141C>G (p.T2047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858927" "0" "50" "3" "195506350" "195506350" "subst" "0" "01943" "MUC4_000070" "g.195506350G>T" "" "" "" "MUC4(NM_018406.6):c.12101C>A (p.P4034H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858928" "0" "50" "3" "195507089" "195507089" "subst" "0" "01943" "MUC4_000071" "g.195507089C>T" "" "" "" "MUC4(NM_018406.6):c.11362G>A (p.G3788S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858929" "0" "10" "3" "195510085" "195510085" "subst" "0" "01943" "MUC4_000072" "g.195510085C>T" "" "" "" "MUC4(NM_018406.6):c.8366G>A (p.S2789N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962605" "0" "10" "3" "195506473" "195506475" "del" "0" "02329" "MUC4_000079" "g.195506473_195506475del" "" "" "" "MUC4(NM_018406.7):c.11977_11979delGTA (p.V3993del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993516" "0" "30" "3" "195497089" "195497089" "subst" "0.000403778" "01804" "MUC4_000119" "g.195497089C>T" "" "" "" "MUC4(NM_018406.6):c.13396G>A (p.(Gly4466Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993517" "0" "50" "3" "195505821" "195505960" "del" "0" "01804" "MUC4_000120" "g.195505821_195505960del" "" "" "" "MUC4(NM_018406.6):c.12491_12630del (p.(Thr4164fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993518" "0" "30" "3" "195507083" "195507083" "subst" "0" "01804" "MUC4_000121" "g.195507083T>A" "" "" "" "MUC4(NM_018406.6):c.11368A>T (p.(Thr3790Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993519" "0" "30" "3" "195508138" "195508138" "subst" "0" "01804" "MUC4_000122" "g.195508138G>A" "" "" "" "MUC4(NM_018406.6):c.10313C>T (p.(Ala3438Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993520" "0" "30" "3" "195508447" "195508447" "subst" "0" "01804" "MUC4_000123" "g.195508447G>A" "" "" "" "MUC4(NM_018406.6):c.10004C>T (p.(Ser3335Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993521" "0" "30" "3" "195511814" "195511814" "subst" "0" "01804" "MUC4_000124" "g.195511814T>C" "" "" "" "MUC4(NM_018406.6):c.6637A>G (p.(Ser2213Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993522" "0" "30" "3" "195512243" "195512243" "subst" "0" "01804" "MUC4_000106" "g.195512243G>C" "" "" "" "MUC4(NM_018406.6):c.6208C>G (p.(Pro2070Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993523" "0" "30" "3" "195513581" "195513581" "subst" "0" "01804" "MUC4_000125" "g.195513581A>C" "" "" "" "MUC4(NM_018406.6):c.4870T>G (p.(Ser1624Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993524" "0" "30" "3" "195514356" "195514356" "del" "0" "01804" "MUC4_000126" "g.195514356del" "" "" "" "MUC4(NM_018406.6):c.4095delT (p.(Asp1365fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993525" "0" "30" "3" "195514358" "195514358" "del" "0" "01804" "MUC4_000127" "g.195514358del" "" "" "" "MUC4(NM_018406.6):c.4093delG (p.(Asp1365fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993526" "0" "50" "3" "195514421" "195514421" "subst" "0" "01804" "MUC4_000128" "g.195514421G>A" "" "" "" "MUC4(NM_018406.6):c.4030C>T (p.(Pro1344Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993527" "0" "30" "3" "195514990" "195514990" "subst" "0" "01804" "MUC4_000129" "g.195514990T>G" "" "" "" "MUC4(NM_018406.6):c.3461A>C (p.(His1154Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993528" "0" "50" "3" "195516052" "195516052" "subst" "0.000211374" "01804" "MUC4_000130" "g.195516052G>A" "" "" "" "MUC4(NM_018406.6):c.2399C>T (p.(Ala800Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033867" "0" "50" "3" "195507862" "195507862" "subst" "0" "01804" "MUC4_000131" "g.195507862G>T" "" "" "" "MUC4(NM_018406.7):c.10589C>A (p.(Ser3530Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033868" "0" "50" "3" "195510785" "195510785" "subst" "0" "01804" "MUC4_000132" "g.195510785C>T" "" "" "" "MUC4(NM_018406.7):c.7666G>A (p.(Gly2556Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033869" "0" "30" "3" "195511451" "195511451" "subst" "0" "01804" "MUC4_000133" "g.195511451T>C" "" "" "" "MUC4(NM_018406.7):c.7000A>G (p.(Thr2334Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033870" "0" "30" "3" "195511454" "195511454" "subst" "0" "01804" "MUC4_000134" "g.195511454C>G" "" "" "" "MUC4(NM_018406.7):c.6997G>C (p.(Asp2333His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033871" "0" "30" "3" "195515401" "195515401" "subst" "0" "01804" "MUC4_000135" "g.195515401A>T" "" "" "" "MUC4(NM_018406.7):c.3050T>A (p.(Val1017Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MUC4 ## Count = 69 "{{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}}" "0000086036" "00014071" "50" "10990" "0" "10990" "0" "c.10990C>T" "r.(?)" "p.(Pro3664Ser)" "" "0000086037" "00014071" "50" "10324" "0" "10324" "0" "c.10324C>G" "r.(?)" "p.(Pro3442Ala)" "" "0000292172" "00014071" "30" "6095" "0" "6095" "0" "c.6095C>T" "r.(?)" "p.(Pro2032Leu)" "" "0000292173" "00014071" "30" "6423" "0" "6423" "0" "c.6423C>T" "r.(?)" "p.(Asp2141=)" "" "0000292174" "00014071" "30" "7541" "0" "7541" "0" "c.7541C>A" "r.(?)" "p.(Pro2514His)" "" "0000459824" "00014071" "30" "8055" "0" "8055" "0" "c.8055T>G" "r.(?)" "p.(His2685Gln)" "" "0000459825" "00014071" "30" "8141" "0" "8141" "0" "c.8141A>C" "r.(?)" "p.(Tyr2714Ser)" "" "0000518826" "00014071" "30" "15285" "0" "15285" "0" "c.15285G>C" "r.(?)" "p.(Glu5095Asp)" "" "0000518827" "00014071" "30" "14969" "0" "14969" "0" "c.14969C>G" "r.(?)" "p.(Thr4990Ser)" "" "0000518828" "00014071" "30" "12553" "0" "12553" "0" "c.12553G>T" "r.(?)" "p.(Ala4185Ser)" "" "0000518830" "00014071" "30" "11093" "0" "11093" "0" "c.11093C>A" "r.(?)" "p.(Pro3698His)" "" "0000518835" "00014071" "30" "10430" "0" "10430" "0" "c.10430G>T" "r.(?)" "p.(Ser3477Ile)" "" "0000518837" "00014071" "30" "9914" "0" "10009" "0" "c.9914_10009del" "r.(?)" "p.(Val3305_Ser3336del)" "" "0000518841" "00014071" "30" "8936" "0" "9031" "0" "c.8936_9031del" "r.(?)" "p.(Asp2979_Pro3010del)" "" "0000518842" "00014071" "30" "8477" "0" "8572" "0" "c.8477_8572del" "r.(?)" "p.(Phe2826_Val2857del)" "" "0000518843" "00014071" "30" "8110" "0" "8253" "0" "c.8110_8253del" "r.(?)" "p.(Ser2704_Thr2751del)" "" "0000518844" "00014071" "30" "8224" "0" "8224" "0" "c.8224A>G" "r.(?)" "p.(Thr2742Ala)" "" "0000518845" "00014071" "30" "7981" "0" "8124" "0" "c.7981_8124del" "r.(?)" "p.(Ser2661_Thr2708del)" "" "0000518847" "00014071" "30" "6030" "0" "6030" "0" "c.6030T>G" "r.(?)" "p.(Ser2010=)" "" "0000518848" "00014071" "30" "5946" "0" "5946" "0" "c.5946C>A" "r.(?)" "p.(Ala1982=)" "" "0000518851" "00014071" "10" "3996" "0" "3996" "0" "c.3996T>C" "r.(?)" "p.(Thr1332=)" "" "0000518853" "00014071" "30" "2214" "0" "2214" "0" "c.2214T>C" "r.(?)" "p.(Leu738=)" "" "0000518854" "00014071" "50" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Ala737Thr)" "" "0000518855" "00014071" "30" "384" "0" "384" "0" "c.384C>A" "r.(?)" "p.(Thr128=)" "" "0000518856" "00014071" "30" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Val107Ala)" "" "0000518857" "00014071" "30" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Gln68Arg)" "" "0000608458" "00014071" "30" "11387" "0" "11387" "0" "c.11387C>G" "r.(?)" "p.(Thr3796Ser)" "" "0000608459" "00014071" "30" "11127" "0" "11127" "0" "c.11127C>G" "r.(?)" "p.(His3709Gln)" "" "0000654867" "00014071" "30" "15216" "0" "15216" "0" "c.15216G>A" "r.(?)" "p.(Glu5072=)" "" "0000660536" "00014071" "50" "10000" "0" "10000" "0" "c.10000C>A" "r.(?)" "p.(Pro3334Thr)" "" "0000660537" "00014071" "50" "9998" "0" "9998" "0" "c.9998G>A" "r.(?)" "p.(Ser3333Asn)" "" "0000660538" "00014071" "50" "9997" "0" "9997" "0" "c.9997A>G" "r.(?)" "p.(Ser3333Gly)" "" "0000676912" "00014071" "50" "13855" "0" "13855" "0" "c.13855G>A" "r.(?)" "p.(Val4619Met)" "" "0000676914" "00014071" "30" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "" "0000689002" "00014071" "50" "11282" "0" "11282" "0" "c.11282T>C" "r.(?)" "p.(Leu3761Pro)" "" "0000689003" "00014071" "30" "11175" "0" "11175" "0" "c.11175C>T" "r.(?)" "p.(His3725=)" "" "0000689004" "00014071" "30" "10116" "0" "10116" "0" "c.10116T>A" "r.(?)" "p.(Gly3372=)" "" "0000689005" "00014071" "50" "8487" "0" "8487" "0" "c.8487T>G" "r.(?)" "p.(His2829Gln)" "" "0000689006" "00014071" "30" "7499" "0" "7499" "0" "c.7499C>G" "r.(?)" "p.(Thr2500Ser)" "" "0000689007" "00014071" "30" "6044" "0" "6044" "0" "c.6044C>G" "r.(?)" "p.(Thr2015Ser)" "" "0000689008" "00014071" "30" "5306" "0" "5306" "0" "c.5306T>C" "r.(?)" "p.(Val1769Ala)" "" "0000801123" "00014071" "30" "14304" "0" "14304" "0" "c.14304C>T" "r.(?)" "p.(Asn4768=)" "" "0000801124" "00014071" "30" "12516" "0" "12516" "0" "c.12516T>G" "r.(?)" "p.(Gly4172=)" "" "0000801125" "00014071" "30" "9819" "0" "9819" "0" "c.9819A>T" "r.(?)" "p.(Ala3273=)" "" "0000801126" "00014071" "30" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Val253=)" "" "0000801127" "00014071" "30" "418" "0" "418" "0" "c.418A>G" "r.(?)" "p.(Met140Val)" "" "0000850208" "00014071" "30" "6141" "0" "6141" "0" "c.6141C>G" "r.(?)" "p.(Thr2047=)" "" "0000858927" "00014071" "50" "12101" "0" "12101" "0" "c.12101C>A" "r.(?)" "p.(Pro4034His)" "" "0000858928" "00014071" "50" "11362" "0" "11362" "0" "c.11362G>A" "r.(?)" "p.(Gly3788Ser)" "" "0000858929" "00014071" "10" "8366" "0" "8366" "0" "c.8366G>A" "r.(?)" "p.(Ser2789Asn)" "" "0000962605" "00014071" "10" "11977" "0" "11979" "0" "c.11977_11979del" "r.(?)" "p.(Val3993del)" "" "0000993516" "00014071" "30" "13396" "0" "13396" "0" "c.13396G>A" "r.(?)" "p.(Gly4466Arg)" "" "0000993517" "00014071" "50" "12491" "0" "12630" "0" "c.12491_12630del" "r.(?)" "p.(Thr4164Serfs*103)" "" "0000993518" "00014071" "30" "11368" "0" "11368" "0" "c.11368A>T" "r.(?)" "p.(Thr3790Ser)" "" "0000993519" "00014071" "30" "10313" "0" "10313" "0" "c.10313C>T" "r.(?)" "p.(Ala3438Val)" "" "0000993520" "00014071" "30" "10004" "0" "10004" "0" "c.10004C>T" "r.(?)" "p.(Ser3335Phe)" "" "0000993521" "00014071" "30" "6637" "0" "6637" "0" "c.6637A>G" "r.(?)" "p.(Ser2213Gly)" "" "0000993522" "00014071" "30" "6208" "0" "6208" "0" "c.6208C>G" "r.(?)" "p.(Pro2070Ala)" "" "0000993523" "00014071" "30" "4870" "0" "4870" "0" "c.4870T>G" "r.(?)" "p.(Ser1624Ala)" "" "0000993524" "00014071" "30" "4095" "0" "4095" "0" "c.4095del" "r.(?)" "p.(Asp1365Glufs*79)" "" "0000993525" "00014071" "30" "4093" "0" "4093" "0" "c.4093del" "r.(?)" "p.(Asp1365Metfs*79)" "" "0000993526" "00014071" "50" "4030" "0" "4030" "0" "c.4030C>T" "r.(?)" "p.(Pro1344Ser)" "" "0000993527" "00014071" "30" "3461" "0" "3461" "0" "c.3461A>C" "r.(?)" "p.(His1154Pro)" "" "0000993528" "00014071" "50" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Ala800Val)" "" "0001033867" "00014071" "50" "10589" "0" "10589" "0" "c.10589C>A" "r.(?)" "p.(Ser3530Tyr)" "" "0001033868" "00014071" "50" "7666" "0" "7666" "0" "c.7666G>A" "r.(?)" "p.(Gly2556Ser)" "" "0001033869" "00014071" "30" "7000" "0" "7000" "0" "c.7000A>G" "r.(?)" "p.(Thr2334Ala)" "" "0001033870" "00014071" "30" "6997" "0" "6997" "0" "c.6997G>C" "r.(?)" "p.(Asp2333His)" "" "0001033871" "00014071" "30" "3050" "0" "3050" "0" "c.3050T>A" "r.(?)" "p.(Val1017Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000056001" "0000086036" "0000056001" "0000086037" "0000226792" "0000459824" "0000226792" "0000459825" "0000297843" "0000660536" "0000297843" "0000660537" "0000297843" "0000660538"