### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP4M1) # 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}}" "AP4M1" "adaptor-related protein complex 4, mu 1 subunit" "7" "q22.1" "unknown" "NG_016312.1" "UD_132084402563" "" "https://www.LOVD.nl/AP4M1" "" "1" "574" "9179" "602296" "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/AP4M1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-31 11:48:26" "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}}" "00002647" "AP4M1" "adaptor-related protein complex 4, mu 1 subunit" "001" "NM_004722.3" "" "NP_004713.2" "" "" "" "-208" "1660" "1362" "99699130" "99704803" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00324" "CP" "palsy, cerebral (CP)" "" "" "" "" "" "00006" "2014-02-15 20:10:49" "00006" "2015-03-27 22:36:00" "03211" "SPG50; CPSQ3" "paraplegia, spastic, autosomal recessive, type 50 (SPG-50, cerebral palsy, spastic quadriplegic, type 3 (CPSQ-3))" "AR" "612936" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AP4M1" "00324" "AP4M1" "03211" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00011661" "" "" "" "5" "" "00006" "{PMID:Verkerk 2009:19559397}" "4-generation family, 5 affecteds, unaffacted carrier parents" "" "yes" "Netherlands" "" "0" "" "" "Morrocan" "" "00034565" "" "" "" "2" "" "00006" "{PMID:Jameel 2014:25496299}, {DOI:Jameel 2014:10.1186/s12881-014-0133-2}" "4-generation family, 2 affected bothers, unaffected heterozygous carriers" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00034566" "" "" "" "2" "" "00006" "{PMID:Tüysüz 2014:24700674}, {DOI:Tüysüz 2014:10.1002/ajmg.a.36514}" "5-generation family, 2 affected sisters, unaffected heterozygous carriers" "F" "yes" "Turkey" "" "0" "" "" "" "" "00034567" "" "" "" "2" "" "00006" "{PMID:Tüysüz 2014:24700674}, {DOI:Tüysüz 2014:10.1002/ajmg.a.36514}" "6-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "" "00173734" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "12y" "0" "" "" "White" "Patient 1" "00225678" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam11DG1767" "00294521" "" "" "" "121" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305171" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317989" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR79" "00361547" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1767" "00374192" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3469" "00387708" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, second cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M065" "00387776" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "" "" "0" "" "" "Turkmenistan" "M8600014" "00387830" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, double cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800050" "00387836" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800140" "00433333" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2017:28464862}, {PMID:Duerinckx 2021: 34402213}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "patient;Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00011661" "00324" "00034565" "00324" "00034566" "00324" "00034567" "00324" "00173734" "03211" "00225678" "00198" "00294521" "00198" "00305171" "00198" "00317989" "00139" "00361547" "00139" "00374192" "00198" "00387708" "00139" "00387776" "00139" "00387830" "00139" "00387836" "00139" "00433333" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00324, 03211, 05421 ## Count = 13 "{{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}}" "0000010355" "00324" "00011661" "00006" "Familial, autosomal recessive" "" "congenital spastic tetraple-gia (CST)" "" "" "" "" "" "" "" "" "" "" "" "0000027970" "00324" "00034565" "00006" "Isolated (sporadic)" "" "see paper; erebral palsy, spastic paraplegia, intellectual disability, ..." "" "" "" "" "" "" "" "" "" "" "" "0000027971" "00324" "00034566" "00006" "Isolated (sporadic)" "" "see paper; tetraplegic cerebral palsy, intellectual disability, ..." "" "" "" "" "" "" "" "" "" "" "" "0000027972" "00324" "00034567" "00006" "Isolated (sporadic)" "" "see paper; tetraplegic cerebral palsy, intellectual disability, ..." "" "" "" "" "" "" "" "" "" "" "" "0000170784" "00198" "00225678" "00006" "Familial, autosomal recessive" "" "see paper; …, microcephaly, speech delay, spasticity; brain MRI: hypomyelination, hypoplastic corpus callosum, and brain atrophy." "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000241773" "00139" "00317989" "00006" "Familial, autosomal recessive" "" "Severe ID with vertebral defect" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000256952" "00139" "00361547" "00006" "Familial, autosomal recessive" "14d" "not syndromic; intellectual disability, spastic paraplegia, microcephaly, hypomyelination, ACC, and brain atrophy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269402" "00198" "00374192" "00006" "Familial, autosomal recessive" "" "Global developmental delay, microcephaly, ID, intrauterine growth retardation, prominent eye, preauricular skin tag in right ear and seizure disorder" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly, intellectual disability" "" "0000281276" "00139" "00387708" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281344" "00139" "00387776" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281398" "00139" "00387830" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281404" "00139" "00387836" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000323854" "05421" "00433333" "00006" "Familial, autosomal recessive" "5y2m" "primary microcephaly, progressive spasticity; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000011576" "00011661" "1" "00006" "00006" "2014-02-15 20:16:16" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000034636" "00034565" "1" "00006" "00006" "2015-03-27 22:42:35" "00006" "2015-03-27 22:46:53" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000034637" "00034566" "1" "00006" "00006" "2015-03-27 22:56:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034638" "00034567" "1" "00006" "00006" "2015-03-27 23:01:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000174625" "00173734" "1" "02494" "02494" "2018-07-31 10:41:55" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000226745" "00225678" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000295689" "00294521" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306300" "00305171" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319171" "00317989" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362775" "00361547" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375386" "00374192" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000388939" "00387708" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389007" "00387776" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389061" "00387830" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389067" "00387836" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000434787" "00433333" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000011576" "AP4M1" "0000034636" "AP4M1" "0000034637" "AP4M1" "0000034638" "AP4M1" "0000226745" "AP4M1" "0000319171" "AP4M1" "0000362775" "AP4M1" "0000375386" "AP4M1" "0000388939" "AP4M1" "0000389007" "AP4M1" "0000389061" "AP4M1" "0000389067" "AP4M1" ## 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 = 89 "{{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}}" "0000031225" "3" "95" "7" "99704138" "99704138" "subst" "1.64E-5" "00006" "AP4M1_000001" "g.99704138G>T" "" "{PMID:Verkerk 2009:19559397}" "" "" "not in 448 control chromosomes" "Germline" "yes" "" "0" "" "" "g.100106515G>T" "" "pathogenic" "" "0000061754" "3" "90" "7" "99700344" "99700345" "del" "0" "00006" "AP4M1_000002" "g.99700344_99700345del" "" "{PMID:Jameel 2014:25496299}, {DOI:Jameel 2014:10.1186/s12881-014-0133-2}" "" "194_195delAT" "whole exome sequencing; not in 400 control chromosomes; mRNA expression 0.33" "Germline" "yes" "" "0" "" "" "g.100102721_100102722del" "" "pathogenic" "" "0000061755" "3" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "00006" "AP4M1_000003" "g.99703901C>T" "" "{PMID:Tüysüz 2014:24700674}, {DOI:Tüysüz 2014:10.1002/ajmg.a.36514}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100106278C>T" "" "pathogenic" "" "0000061756" "3" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "00006" "AP4M1_000004" "g.99703604C>T" "" "{PMID:Tüysüz 2014:24700674}, {DOI:Tüysüz 2014:10.1002/ajmg.a.36514}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100105981C>T" "" "pathogenic" "" "0000259110" "0" "10" "7" "99699626" "99699626" "subst" "0.620494" "02325" "AP4M1_000007" "g.99699626T>C" "" "" "" "AP4M1(NM_004722.4):c.147+35T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102003T>C" "" "benign" "" "0000260125" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "02329" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106515G>T" "" "pathogenic" "" "0000262584" "0" "30" "7" "99703891" "99703891" "subst" "0.0170631" "01943" "AP4M1_000022" "g.99703891C>T" "" "" "" "AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106268C>T" "" "likely benign" "" "0000262585" "0" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "01943" "AP4M1_000003" "g.99703901C>T" "" "" "" "AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106278C>T" "" "pathogenic" "" "0000262586" "0" "30" "7" "99704153" "99704153" "subst" "0" "01943" "AP4M1_000023" "g.99704153C>T" "" "" "" "AP4M1(NM_004722.3):c.1137+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106530C>T" "" "likely benign" "" "0000262587" "0" "30" "7" "99704283" "99704283" "subst" "0.00054693" "01943" "AP4M1_000024" "g.99704283G>A" "" "" "" "AP4M1(NM_004722.3):c.1140G>A (p.M380I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106660G>A" "" "likely benign" "" "0000262588" "0" "10" "7" "99704448" "99704448" "subst" "0.019223" "01943" "AP4M1_000025" "g.99704448C>T" "" "" "" "AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106825C>T" "" "benign" "" "0000262589" "0" "90" "7" "99704460" "99704460" "subst" "4.06643E-6" "01943" "AP4M1_000026" "g.99704460G>A" "" "" "" "AP4M1(NM_004722.3):c.1317G>A (p.W439*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106837G>A" "" "pathogenic" "" "0000262590" "0" "30" "7" "99704487" "99704487" "subst" "0.000930316" "01943" "AP4M1_000027" "g.99704487C>T" "" "" "" "AP4M1(NM_004722.3):c.1344C>T (p.A448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106864C>T" "" "likely benign" "" "0000262591" "0" "50" "7" "99699580" "99699580" "subst" "4.49306E-5" "01943" "AP4M1_000006" "g.99699580C>G" "" "" "" "AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100101957C>G" "" "VUS" "" "0000262592" "0" "30" "7" "99700378" "99700378" "subst" "0.0073539" "01943" "AP4M1_000009" "g.99700378C>T" "" "" "" "AP4M1(NM_004722.3):c.228C>T (p.P76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102755C>T" "" "likely benign" "" "0000262593" "0" "10" "7" "99700471" "99700471" "subst" "0.00419103" "01943" "AP4M1_000010" "g.99700471C>T" "" "" "" "AP4M1(NM_004722.3):c.255-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102848C>T" "" "benign" "" "0000262594" "0" "50" "7" "99700526" "99700526" "subst" "2.03039E-5" "01943" "AP4M1_000011" "g.99700526C>T" "" "" "" "AP4M1(NM_004722.3):c.294C>T (p.G98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100102903C>T" "" "VUS" "" "0000262595" "0" "50" "7" "99701709" "99701709" "subst" "0.00033306" "01943" "AP4M1_000014" "g.99701709T>G" "" "" "" "AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104086T>G" "" "VUS" "" "0000262596" "0" "10" "7" "99699489" "99699489" "subst" "0.000928482" "01943" "AP4M1_000005" "g.99699489C>G" "" "" "" "AP4M1(NM_004722.3):c.59-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100101866C>G" "" "benign" "" "0000262597" "0" "10" "7" "99702947" "99702947" "subst" "0.0699726" "01943" "AP4M1_000017" "g.99702947G>A" "" "" "" "AP4M1(NM_004722.3):c.812G>A (p.R271H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105324G>A" "" "benign" "" "0000262598" "0" "50" "7" "99703605" "99703605" "subst" "0.000284243" "01943" "AP4M1_000019" "g.99703605G>A" "" "" "" "AP4M1(NM_004722.3):c.953G>A (p.R318Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105982G>A" "" "VUS" "" "0000262599" "0" "10" "7" "99703850" "99703850" "subst" "0.000121977" "01943" "AP4M1_000021" "g.99703850C>T" "" "" "" "AP4M1(NM_004722.3):c.975-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106227C>T" "" "benign" "" "0000331725" "0" "50" "7" "99696224" "99696224" "subst" "0" "01804" "MCM7_000001" "g.99696224G>A" "" "" "" "MCM7(NM_001278595.1):c.169C>T (p.(Gln57Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100098601G>A" "" "VUS" "" "0000331728" "0" "30" "7" "99701274" "99701274" "subst" "0" "01804" "AP4M1_000013" "g.99701274A>C" "" "" "" "AP4M1(NM_004722.3):c.502A>C (p.(Ser168Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100103651A>C" "" "likely benign" "" "0000331729" "0" "50" "7" "99701709" "99701709" "subst" "0.00033306" "01804" "AP4M1_000014" "g.99701709T>G" "" "" "" "AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104086T>G" "" "VUS" "" "0000331730" "0" "30" "7" "99702662" "99702662" "subst" "6.4972E-5" "01804" "AP4M1_000015" "g.99702662C>T" "" "" "" "AP4M1(NM_004722.3):c.674-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105039C>T" "" "likely benign" "" "0000331731" "0" "50" "7" "99702896" "99702896" "subst" "4.87266E-5" "01804" "AP4M1_000016" "g.99702896C>T" "" "" "" "AP4M1(NM_004722.3):c.761C>T (p.(Ser254Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105273C>T" "" "VUS" "" "0000331734" "0" "50" "7" "99704982" "99704982" "subst" "2.79882E-5" "01804" "TAF6_000001" "g.99704982T>C" "" "" "" "TAF6(NM_001190415.1):c.2032A>G (p.(Ser678Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100107359T>C" "" "VUS" "" "0000331735" "0" "50" "7" "99705197" "99705197" "subst" "2.84886E-5" "01804" "TAF6_000002" "g.99705197G>A" "" "" "" "TAF6(NM_001190415.1):c.1817C>T (p.(Ser606Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100107574G>A" "" "VUS" "" "0000338960" "0" "10" "7" "99699169" "99699169" "subst" "0" "02327" "AP4M1_000028" "g.99699169A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100101546A>T" "" "benign" "" "0000338961" "0" "70" "7" "99702566" "99702566" "subst" "0" "02327" "AP4M1_000034" "g.99702566G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104943G>T" "" "likely pathogenic" "" "0000342592" "0" "90" "7" "99703149" "99703149" "subst" "4.0709E-5" "02327" "AP4M1_000035" "g.99703149C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105526C>T" "" "pathogenic" "" "0000342622" "0" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "02327" "AP4M1_000004" "g.99703604C>T" "" "" "" "AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105981C>T" "" "pathogenic" "" "0000342671" "0" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "02327" "AP4M1_000003" "g.99703901C>T" "" "" "" "AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106278C>T" "" "pathogenic" "" "0000342743" "0" "50" "7" "99704100" "99704100" "subst" "0.000342095" "02327" "AP4M1_000038" "g.99704100G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100106477G>A" "" "VUS" "" "0000344610" "0" "90" "7" "99701313" "99701313" "subst" "4.07014E-6" "02327" "AP4M1_000032" "g.99701313C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100103690C>T" "" "pathogenic" "" "0000344613" "0" "90" "7" "99701718" "99701718" "subst" "0" "02327" "AP4M1_000033" "g.99701718C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104095C>T" "" "pathogenic" "" "0000345977" "0" "50" "7" "99703153" "99703153" "subst" "3.25998E-5" "02327" "AP4M1_000036" "g.99703153G>C" "" "" "" "AP4M1(NM_004722.3):c.920G>C (p.G307A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100105530G>C" "" "VUS" "" "0000394435" "21" "70" "7" "99699369" "99699369" "del" "0" "02494" "AP4M1_000039" "g.99699369del" "" "" "" "32delA" "" "Germline" "" "" "0" "" "" "g.100101746del" "" "likely pathogenic" "" "0000394436" "11" "70" "7" "99703607" "99703607" "subst" "2.03028E-5" "02494" "AP4M1_000040" "g.99703607T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100105984T>C" "" "likely pathogenic" "" "0000459766" "3" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "00006" "AP4M1_000004" "g.99703604C>T" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100105981C>T" "" "pathogenic (recessive)" "" "0000533178" "0" "30" "7" "99697028" "99697028" "subst" "0" "01804" "AP4M1_000043" "g.99697028T>A" "" "" "" "MCM7(NM_001278595.1):c.-327-2A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100099405T>A" "" "likely benign" "" "0000533181" "0" "50" "7" "99702498" "99702498" "subst" "4.06091E-6" "01804" "AP4M1_000046" "g.99702498G>A" "" "" "" "AP4M1(NM_004722.4):c.608G>A (p.(Gly203Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100104875G>A" "" "VUS" "" "0000533182" "0" "30" "7" "99702556" "99702556" "subst" "1.6243E-5" "01943" "AP4M1_000047" "g.99702556C>T" "" "" "" "AP4M1(NM_004722.3):c.666C>T (p.S222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100104933C>T" "" "likely benign" "" "0000533183" "0" "30" "7" "99703582" "99703582" "subst" "0.000726845" "01943" "AP4M1_000018" "g.99703582G>A" "" "" "" "AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100105959G>A" "" "likely benign" "" "0000533184" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "01943" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106515G>T" "" "pathogenic" "" "0000533185" "0" "90" "7" "99704407" "99704407" "subst" "8.12757E-6" "02327" "AP4M1_000048" "g.99704407C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106784C>T" "" "pathogenic" "" "0000533186" "0" "50" "7" "99704465" "99704465" "subst" "2.03381E-5" "01943" "AP4M1_000049" "g.99704465G>A" "" "" "" "AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106842G>A" "" "VUS" "" "0000611345" "0" "10" "7" "99699407" "99699407" "subst" "0.00312237" "02327" "AP4M1_000052" "g.99699407C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100101784C>T" "" "benign" "" "0000611346" "0" "30" "7" "99702708" "99702708" "subst" "4.06118E-6" "01943" "AP4M1_000054" "g.99702708G>A" "" "" "" "AP4M1(NM_004722.3):c.714G>A (p.K238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100105085G>A" "" "likely benign" "" "0000621963" "0" "30" "7" "99701320" "99701320" "subst" "0" "01943" "AP4M1_000053" "g.99701320G>A" "" "" "" "AP4M1(NM_004722.3):c.543+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100103697G>A" "" "likely benign" "" "0000652378" "1" "10" "7" "99704448" "99704448" "subst" "0.019223" "03575" "AP4M1_000025" "g.99704448C>T" "121/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "121 heterozygous; {DB:CLININrs4134932}" "Germline" "" "rs4134932" "0" "" "" "g.100106825C>T" "" "benign" "" "0000655943" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "02325" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100106515G>T" "" "pathogenic" "" "0000669988" "3" "10" "7" "99704448" "99704448" "subst" "0.019223" "03575" "AP4M1_000025" "g.99704448C>T" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs4134932}" "Germline" "" "rs4134932" "0" "" "" "g.100106825C>T" "" "benign" "" "0000678235" "0" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "02325" "AP4M1_000004" "g.99703604C>T" "" "" "" "AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678236" "0" "70" "7" "99703607" "99703607" "subst" "2.03028E-5" "02329" "AP4M1_000040" "g.99703607T>C" "" "" "" "AP4M1(NM_004722.4):c.955T>C (p.C319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678237" "0" "30" "7" "99703612" "99703612" "subst" "0.000430418" "01943" "AP4M1_000055" "g.99703612C>T" "" "" "" "AP4M1(NM_004722.3):c.960C>T (p.D320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690117" "0" "50" "7" "99699580" "99699580" "subst" "4.49306E-5" "02327" "AP4M1_000006" "g.99699580C>G" "" "" "" "AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701835" "3" "70" "7" "99704430" "99704430" "del" "0" "00006" "AP4M1_000056" "g.99704430del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.100106807del" "" "likely pathogenic (recessive)" "" "0000763149" "3" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "00006" "AP4M1_000004" "g.99703604C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.100105981C>T" "" "pathogenic" "ACMG" "0000786737" "1" "90" "7" "99699502" "99699502" "subst" "4.08975E-6" "00006" "AP4M1_000057" "g.99699502G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs761873506" "0" "" "" "g.100101879G>C" "" "pathogenic" "" "0000787445" "2" "90" "7" "99703134" "99703134" "del" "0" "00000" "AP4M1_000058" "g.99703134del" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.100105511del" "" "pathogenic" "" "0000803327" "0" "30" "7" "99693747" "99693747" "subst" "0" "01943" "AP4M1_000059" "g.99693747C>G" "" "" "" "MCM7(NM_001278595.1):c.717G>C (p.T239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803328" "0" "50" "7" "99697682" "99697682" "subst" "4.06088E-6" "01943" "AP4M1_000060" "g.99697682C>A" "" "" "" "MCM7(NM_005916.4):c.66G>T (p.Q22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817732" "3" "90" "7" "99700491" "99700491" "del" "0" "00006" "AP4M1_000061" "g.99700491del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100102868del" "" "pathogenic (recessive)" "ACMG" "0000817800" "3" "90" "7" "99703627" "99703627" "subst" "8.12137E-6" "00006" "AP4M1_000063" "g.99703627G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100106004G>A" "" "pathogenic (recessive)" "ACMG" "0000817854" "3" "90" "7" "99701748" "99701748" "subst" "0" "00006" "AP4M1_000062" "g.99701748G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100104125G>A" "" "pathogenic (recessive)" "ACMG" "0000817860" "3" "90" "7" "99701748" "99701748" "subst" "0" "00006" "AP4M1_000062" "g.99701748G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100104125G>A" "" "pathogenic (recessive)" "ACMG" "0000851734" "0" "30" "7" "99702906" "99702906" "subst" "2.84239E-5" "01943" "AP4M1_000065" "g.99702906C>T" "" "" "" "AP4M1(NM_004722.3):c.771C>T (p.S257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851735" "0" "50" "7" "99703153" "99703153" "subst" "3.25998E-5" "01943" "AP4M1_000036" "g.99703153G>C" "" "" "" "AP4M1(NM_004722.3):c.920G>C (p.G307A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860981" "0" "50" "7" "99701263" "99701263" "subst" "0" "01943" "AP4M1_000064" "g.99701263T>C" "" "" "" "AP4M1(NM_004722.3):c.491T>C (p.V164A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860982" "0" "50" "7" "99704060" "99704060" "subst" "0" "01943" "AP4M1_000066" "g.99704060G>A" "" "" "" "AP4M1(NM_004722.3):c.1060G>A (p.A354T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888068" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "02327" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888069" "0" "50" "7" "99705159" "99705159" "subst" "8.12968E-6" "02325" "AP4M1_000067" "g.99705159C>T" "" "" "" "AP4M1(NM_004722.4):c.*654C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920664" "3" "70" "7" "99703901" "99703901" "subst" "4.06412E-5" "00006" "AP4M1_000003" "g.99703901C>T" "" "{PMID:Duerinckx 2017:28464862}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.100106278C>T" "" "likely pathogenic (recessive)" "" "0000977942" "0" "50" "7" "99699580" "99699580" "subst" "4.49306E-5" "01804" "AP4M1_000006" "g.99699580C>G" "" "" "" "AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977943" "0" "50" "7" "99701292" "99701292" "subst" "1.21925E-5" "01804" "AP4M1_000068" "g.99701292G>A" "" "" "" "AP4M1(NM_004722.4):c.520G>A (p.(Val174Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977944" "0" "10" "7" "99703891" "99703891" "subst" "0.0170631" "01804" "AP4M1_000022" "g.99703891C>T" "" "" "" "AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977945" "0" "90" "7" "99703901" "99703901" "subst" "4.06412E-5" "01804" "AP4M1_000003" "g.99703901C>T" "" "" "" "AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977946" "0" "30" "7" "99704448" "99704448" "subst" "0.019223" "01804" "AP4M1_000025" "g.99704448C>T" "" "" "" "AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996805" "0" "50" "7" "99687246" "99687246" "dup" "0" "01804" "AP4M1_000069" "g.99687246dup" "" "" "" "COPS6(NM_006833.4):c.211dupG (p.(Ala71fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996806" "0" "30" "7" "99695787" "99695787" "subst" "0.000195043" "01804" "AP4M1_000070" "g.99695787T>C" "" "" "" "MCM7(NM_005916.4):c.847A>G (p.(Thr283Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996807" "0" "50" "7" "99701134" "99701134" "subst" "1.21824E-5" "01804" "AP4M1_000071" "g.99701134G>A" "" "" "" "AP4M1(NM_004722.3):c.454G>A (p.(Val152Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996808" "0" "50" "7" "99702861" "99702861" "subst" "0" "01804" "AP4M1_000072" "g.99702861A>C" "" "" "" "AP4M1(NM_004722.3):c.728-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996809" "0" "90" "7" "99703604" "99703604" "subst" "4.06058E-6" "01804" "AP4M1_000004" "g.99703604C>T" "" "" "" "AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025462" "0" "30" "7" "99703582" "99703582" "subst" "0.000726845" "02326" "AP4M1_000018" "g.99703582G>A" "" "" "" "AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036635" "0" "50" "7" "99702959" "99702959" "subst" "0" "01804" "AP4M1_000073" "g.99702959C>T" "" "" "" "AP4M1(NM_004722.4):c.824C>T (p.(Pro275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036636" "0" "90" "7" "99704138" "99704138" "subst" "1.64E-5" "01804" "AP4M1_000001" "g.99704138G>T" "" "" "" "AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036637" "0" "50" "7" "99704465" "99704465" "subst" "2.03381E-5" "01804" "AP4M1_000049" "g.99704465G>A" "" "" "" "AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln))" "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 AP4M1 ## Count = 89 "{{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}}" "0000031225" "00002647" "95" "1137" "1" "1137" "1" "c.1137+1G>T" "r.1026_1137del" "p.Ser342fs" "14i" "0000061754" "00002647" "90" "194" "0" "195" "0" "c.194_195del" "r.194_195del" "p.Tyr65Phefs*50" "3" "0000061755" "00002647" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "13" "0000061756" "00002647" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318*)" "12" "0000259110" "00002647" "10" "147" "35" "147" "35" "c.147+35T>C" "r.(=)" "p.(=)" "" "0000260125" "00002647" "90" "1137" "1" "1137" "1" "c.1137+1G>T" "r.spl?" "p.?" "" "0000262584" "00002647" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0000262585" "00002647" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000262586" "00002647" "30" "1137" "16" "1137" "16" "c.1137+16C>T" "r.(=)" "p.(=)" "" "0000262587" "00002647" "30" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Met380Ile)" "" "0000262588" "00002647" "10" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Asn435=)" "" "0000262589" "00002647" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" "" "0000262590" "00002647" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ala448=)" "" "0000262591" "00002647" "50" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Pro46Ala)" "" "0000262592" "00002647" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Pro76=)" "" "0000262593" "00002647" "10" "255" "-16" "255" "-16" "c.255-16C>T" "r.(=)" "p.(=)" "" "0000262594" "00002647" "50" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Gly98=)" "" "0000262595" "00002647" "50" "544" "-6" "544" "-6" "c.544-6T>G" "r.(=)" "p.(=)" "" "0000262596" "00002647" "10" "59" "-14" "59" "-14" "c.59-14C>G" "r.(=)" "p.(=)" "" "0000262597" "00002647" "10" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271His)" "" "0000262598" "00002647" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318Gln)" "" "0000262599" "00002647" "10" "975" "-14" "975" "-14" "c.975-14C>T" "r.(=)" "p.(=)" "" "0000331725" "00002647" "50" "-3114" "0" "-3114" "0" "c.-3114G>A" "r.(?)" "p.(=)" "" "0000331728" "00002647" "30" "502" "0" "502" "0" "c.502A>C" "r.(?)" "p.(Ser168Arg)" "" "0000331729" "00002647" "50" "544" "-6" "544" "-6" "c.544-6T>G" "r.(=)" "p.(=)" "" "0000331730" "00002647" "30" "674" "-6" "674" "-6" "c.674-6C>T" "r.(=)" "p.(=)" "" "0000331731" "00002647" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Ser254Leu)" "" "0000331734" "00002647" "50" "1839" "0" "1839" "0" "c.*477T>C" "r.(=)" "p.(=)" "" "0000331735" "00002647" "50" "2054" "0" "2054" "0" "c.*692G>A" "r.(=)" "p.(=)" "" "0000338960" "00002647" "10" "-169" "0" "-169" "0" "c.-169A>T" "r.(?)" "p.(=)" "" "0000338961" "00002647" "70" "673" "3" "673" "3" "c.673+3G>T" "r.spl?" "p.?" "" "0000342592" "00002647" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Ter)" "" "0000342622" "00002647" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Ter)" "" "0000342671" "00002647" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000342743" "00002647" "50" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Arg367Gln)" "" "0000344610" "00002647" "90" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Gln181Ter)" "" "0000344613" "00002647" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Gln183Ter)" "" "0000345977" "00002647" "50" "920" "0" "920" "0" "c.920G>C" "r.(?)" "p.(Gly307Ala)" "" "0000394435" "00002647" "70" "32" "0" "32" "0" "c.32del" "r.(?)" "p.(Lys11Argfs*27)" "1" "0000394436" "00002647" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "12" "0000459766" "00002647" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318*)" "" "0000533178" "00002647" "30" "-2310" "0" "-2310" "0" "c.-2310T>A" "r.(?)" "p.(=)" "" "0000533181" "00002647" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000533182" "00002647" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(Ser222=)" "" "0000533183" "00002647" "30" "930" "0" "930" "0" "c.930G>A" "r.(?)" "p.(Arg310=)" "" "0000533184" "00002647" "90" "1137" "1" "1137" "1" "c.1137+1G>T" "r.spl?" "p.?" "" "0000533185" "00002647" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Ter)" "" "0000533186" "00002647" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000611345" "00002647" "10" "58" "12" "58" "12" "c.58+12C>T" "r.(=)" "p.(=)" "" "0000611346" "00002647" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Lys238=)" "" "0000621963" "00002647" "30" "543" "5" "543" "5" "c.543+5G>A" "r.spl?" "p.?" "" "0000652378" "00002647" "10" "1305" "0" "1305" "0" "c.1305C>T" "r.(=)" "p.(=)" "" "0000655943" "00002647" "90" "1137" "1" "1137" "1" "c.1137+1G>T" "r.spl?" "p.?" "" "0000669988" "00002647" "10" "1305" "0" "1305" "0" "c.1305C>T" "r.(=)" "p.(=)" "" "0000678235" "00002647" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Ter)" "" "0000678236" "00002647" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" "0000678237" "00002647" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Asp320=)" "" "0000690117" "00002647" "50" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Pro46Ala)" "" "0000701835" "00002647" "70" "1287" "0" "1287" "0" "c.1287del" "r.(?)" "p.(Arg429Serfs*15)" "" "0000763149" "00002647" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318*)" "" "0000786737" "00002647" "90" "59" "-1" "59" "-1" "c.59-1G>C" "r.spl" "p.?" "1i" "0000787445" "00002647" "90" "901" "0" "901" "0" "c.901delT" "r.(?)" "p.(Ser301LeufsTer15)" "11" "0000803327" "00002647" "30" "-5591" "0" "-5591" "0" "c.-5591C>G" "r.(?)" "p.(=)" "" "0000803328" "00002647" "50" "-1656" "0" "-1656" "0" "c.-1656C>A" "r.(?)" "p.(=)" "" "0000817732" "00002647" "90" "259" "0" "259" "0" "c.259del" "r.(?)" "p.(Ala87ProfsTer44)" "" "0000817800" "00002647" "90" "974" "1" "974" "1" "c.974+1G>A" "r.spl" "p.?" "" "0000817854" "00002647" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Glu193Lys)" "" "0000817860" "00002647" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Glu193Lys)" "" "0000851734" "00002647" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(Ser257=)" "" "0000851735" "00002647" "50" "920" "0" "920" "0" "c.920G>C" "r.(?)" "p.(Gly307Ala)" "" "0000860981" "00002647" "50" "491" "0" "491" "0" "c.491T>C" "r.(?)" "p.(Val164Ala)" "" "0000860982" "00002647" "50" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Ala354Thr)" "" "0000888068" "00002647" "90" "1137" "1" "1137" "1" "c.1137+1G>T" "r.spl?" "p.?" "" "0000888069" "00002647" "50" "2016" "0" "2016" "0" "c.*654C>T" "r.(=)" "p.(=)" "" "0000920664" "00002647" "70" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000977942" "00002647" "50" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Pro46Ala)" "" "0000977943" "00002647" "50" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Ile)" "" "0000977944" "00002647" "10" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Leu334=)" "" "0000977945" "00002647" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000977946" "00002647" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Asn435=)" "" "0000996805" "00002647" "50" "-12092" "0" "-12092" "0" "c.-12092dup" "r.(?)" "p.(=)" "" "0000996806" "00002647" "30" "-3551" "0" "-3551" "0" "c.-3551T>C" "r.(?)" "p.(=)" "" "0000996807" "00002647" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Val152Ile)" "" "0000996808" "00002647" "50" "728" "-2" "728" "-2" "c.728-2A>C" "r.spl?" "p.?" "" "0000996809" "00002647" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Ter)" "" "0001025462" "00002647" "30" "930" "0" "930" "0" "c.930G>A" "r.(?)" "p.(Arg310=)" "" "0001036635" "00002647" "50" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Pro275Leu)" "" "0001036636" "00002647" "90" "1137" "1" "1137" "1" "c.1137+1G>T" "r.spl?" "p.?" "" "0001036637" "00002647" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000011576" "0000031225" "0000034636" "0000061754" "0000034637" "0000061755" "0000034638" "0000061756" "0000174625" "0000394435" "0000174625" "0000394436" "0000226745" "0000459766" "0000295689" "0000652378" "0000306300" "0000669988" "0000319171" "0000701835" "0000362775" "0000763149" "0000375386" "0000786737" "0000375386" "0000787445" "0000388939" "0000817732" "0000389007" "0000817800" "0000389061" "0000817854" "0000389067" "0000817860" "0000434787" "0000920664"