### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP1G1) # 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}}" "AP1G1" "adaptor-related protein complex 1, gamma 1 subunit" "16" "q23" "unknown" "NC_000016.9" "UD_132378533206" "" "https://www.LOVD.nl/AP1G1" "" "1" "555" "164" "603533" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/AP1G1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-11 16:59:02" "00000" "2025-07-08 13:22:38" ## 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}}" "00002625" "AP1G1" "transcript variant 1" "002" "NM_001030007.1" "" "NP_001025178.1" "" "" "" "-314" "6536" "2478" "71842976" "71762903" "" "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}}" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AP1G1" "00139" "AP1G1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00375568" "" "" "" "2" "" "00000" "{PMID:Usmani 2021:34102099}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Italy" "" "0" "" "" "" "CPBO-PatIII5" "00375569" "" "" "" "5" "" "00000" "{PMID:Usmani 2021:34102099}" "4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "PKMR328-PatIV2" "00375570" "" "" "00375569" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "" "M" "yes" "Pakistan" "21y" "0" "" "" "" "PKMR328-PatIVI" "00375571" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "Fam3PatII1" "00375572" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Poland" "4y" "0" "" "" "" "Fam4PatII1" "00375573" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam5PatII1" "00375574" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Fam6PatII1" "00375575" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam7PatII1" "00375576" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "22d" "0" "" "" "" "Fam8PatII1" "00375577" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam9PatII1" "00375578" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam10PatII1" "00375579" "" "" "" "1" "" "00000" "{PMID:Usmani 2021:34102099}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam11PatII1" "00453315" "" "" "" "1" "" "00006" "{PMID:Cappi 2016:27023170}" "analysis 20 sporadic obsessive-compulsive disorder cases" "" "" "Brazil" "" "0" "" "" "" "OCD175901" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00375568" "05611" "00375569" "05611" "00375570" "05611" "00375571" "05611" "00375572" "05611" "00375573" "05611" "00375574" "05611" "00375575" "05611" "00375576" "05611" "00375577" "05611" "00375578" "05611" "00375579" "05611" "00453315" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611 ## 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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000270782" "05611" "00375568" "00000" "Familial, autosomal recessive" "13y" "congenital agenesis of corpus callosum; severe intellectual disability; speech delay; developmental delay; high palate; severe hypotonia; no epilepsy; spasticity; aggressive; hypertelorism epicanthus; low-set, posteriorly rotated ears; normal bones; lumbar scoliosis; no limb defects" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270783" "05611" "00375569" "00000" "Familial, autosomal recessive" "19y" "no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; prominent supraorbital ridges; hypotonia; epilepsy; spasticity; normal behavior; hyperemic conjunctivae; normal ears; pectus excavatum; no vertebral anomalies; joint laxity" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270784" "05611" "00375570" "00000" "Familial, autosomal recessive" "21y" "21y-died; no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; severe hypotonia; epilepsy; spasticity; aggressive; no eyes anomalies; normal ears; not evaluated; no vertebral anomalies; joint laxity" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270785" "05611" "00375571" "00000" "Isolated (sporadic)" "7y" "no congenital anomalies; mild/moderate intellectual disability; speech delay; developmental delay; normal face; moderate truncal hypotonia; epilepsy; no spasticity; aggressive, hyperactivity; no eyes anomalies; normal ears; normal bones; lumbar hyperlordosis; short fingers, feet syndactyly II-III bilaterally" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270786" "05611" "00375572" "00000" "Isolated (sporadic)" "4y" "4y-died; no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; normal face; hypotonia; epilepsy; spasticity; aggressive, hyperactivity; strabismus; normal ears; normal bones; no vertebral anomalies; no limb defects" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270787" "05611" "00375573" "00000" "Isolated (sporadic)" "7y" "no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; eyelid hooding, long philtrum; hypotonia; single febrile seizure; no spasticity; autism spectrum disorder, self-stimulatory, self-injurious behavior; esotropia, anisometropia, amblyopia; normal ears; normal bones; no vertebral anomalies; mild 5th finger clinodactyly, flat feet" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270788" "05611" "00375574" "00000" "Isolated (sporadic)" "18y" "congenital hearing loss; mild intellectual disability; speech delay; developmental delay; no obvious dysmorphic facila features; hypotonia from few months of age; no epilepsy; no spasticity; depression, anxiety, disinhibition, and compulsive behavior; no eyes anomalies; normal ears; normal bones; widely spaced toes" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270789" "05611" "00375575" "00000" "Isolated (sporadic)" "4y" "no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; frontal bossing, prominent forehead; severe hypotonia; no epilepsy; no spasticity; aggressive, autism; no eyes anomalies; ear tag right ear; normal bones; no vertebral anomalies; no limb defects, small hands and feet" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270790" "05611" "00375576" "00000" "Isolated (sporadic)" "22d" "22d-died" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270791" "05611" "00375577" "00000" "Isolated (sporadic)" "6y" "congenital pectus excavatum; mild intellectual disability; speech delay; developmental delay; normal face; hypotonia; epilepsy; no spasticity; autism, hyperactivity, impulsivity, non-compliant; no eyes anomalies; normal ears; normal bones; no vertebral anomalies; long fingers and toes" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270792" "05611" "00375578" "00000" "Isolated (sporadic)" "40y" "moderate, decreasing intellectual disability; speech delay; developmental delay; turricephaly; no hypotonia; no epilepsy; no spasticity; aggressive; pectus carinatum; thoracal kyphosis; long extremities" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270793" "05611" "00375579" "00000" "Isolated (sporadic)" "14y" "intellectual disability; speech delay; developmental delay; behavioral problems" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000341978" "00198" "00453315" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "obsessive-compulsive disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000376765" "00375568" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376766" "00375569" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376767" "00375570" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376768" "00375571" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376769" "00375572" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376770" "00375573" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376771" "00375574" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376772" "00375575" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376773" "00375576" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376774" "00375577" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376775" "00375578" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000376776" "00375579" "1" "00000" "00006" "2021-06-11 18:02:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000454926" "00453315" "1" "00006" "00006" "2024-08-17 18:11:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 32 "{{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}}" "0000559027" "0" "50" "16" "71808468" "71808468" "del" "0" "02327" "AP1G1_000002" "g.71808468del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71774565del" "" "VUS" "" "0000616116" "0" "50" "16" "71795472" "71795472" "subst" "0" "01943" "AP1G1_000003" "g.71795472T>G" "" "" "" "AP1G1(NM_001030007.1):c.928-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71761569T>G" "" "VUS" "" "0000788818" "3" "70" "16" "71799402" "71799402" "subst" "0" "00000" "AP1G1_000007" "g.71799402G>T" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS3, PM2" "Germline" "" "" "0" "" "" "g.71765499G>T" "" "likely pathogenic (recessive)" "ACMG" "0000788819" "3" "70" "16" "71790055" "71790055" "subst" "2.54706E-5" "00000" "AP1G1_000006" "g.71790055T>C" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS3, PM2" "Germline" "" "" "0" "" "" "g.71756152T>C" "" "likely pathogenic (recessive)" "ACMG" "0000788820" "3" "70" "16" "71790055" "71790055" "subst" "2.54706E-5" "00000" "AP1G1_000006" "g.71790055T>C" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS3, PM2" "Germline" "" "" "0" "" "" "g.71756152T>C" "" "likely pathogenic (recessive)" "ACMG" "0000788821" "0" "70" "16" "71823339" "71823339" "subst" "0" "00000" "AP1G1_000011" "g.71823339C>T" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71789436C>T" "" "likely pathogenic (dominant)" "ACMG" "0000788822" "0" "70" "16" "71823280" "71823280" "subst" "0" "00000" "AP1G1_000010" "g.71823280G>A" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71789377G>A" "" "likely pathogenic (dominant)" "ACMG" "0000788823" "0" "70" "16" "71823280" "71823280" "subst" "0" "00000" "AP1G1_000010" "g.71823280G>A" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71789377G>A" "" "likely pathogenic (dominant)" "ACMG" "0000788824" "0" "70" "16" "71823279" "71823279" "subst" "0" "00000" "AP1G1_000009" "g.71823279C>T" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71789376C>T" "" "likely pathogenic (dominant)" "ACMG" "0000788825" "0" "70" "16" "71808468" "71808468" "del" "0" "00000" "AP1G1_000002" "g.71808468del" "" "{PMID:Usmani 2021:34102099}" "" "299delC (Gln77Lys∗11)" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71774565del" "" "likely pathogenic (dominant)" "ACMG" "0000788826" "0" "70" "16" "71807195" "71807196" "del" "0" "00000" "AP1G1_000008" "g.71807195_71807196del" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71773292_71773293del" "" "likely pathogenic (dominant)" "ACMG" "0000788827" "0" "70" "16" "71799392" "71799392" "subst" "0" "00000" "AP1G1_000004" "g.71799392C>A" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3; effect on RNA from in vitro splicing assay" "De novo" "" "" "0" "" "" "g.71765489C>A" "" "likely pathogenic (dominant)" "ACMG" "0000788828" "0" "70" "16" "71795472" "71795472" "subst" "0" "00000" "AP1G1_000003" "g.71795472T>G" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71761569T>G" "" "likely pathogenic (dominant)" "ACMG" "0000788829" "0" "70" "16" "71766980" "71766980" "subst" "0" "00000" "AP1G1_000005" "g.71766980G>C" "" "{PMID:Usmani 2021:34102099}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.71733077G>C" "" "likely pathogenic (dominant)" "ACMG" "0000893169" "0" "70" "16" "71767053" "71767053" "subst" "0" "02326" "AP1G1_000012" "g.71767053G>A" "" "" "" "AP1G1(NM_001030007.2):c.2386C>T (p.R796*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914684" "0" "90" "16" "71823279" "71823279" "subst" "0" "02325" "AP1G1_000009" "g.71823279C>T" "" "" "" "AP1G1(NM_001030007.2):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930651" "0" "70" "16" "71784193" "71784193" "subst" "0" "02327" "AP1G1_000013" "g.71784193G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930652" "0" "70" "16" "71807130" "71807130" "dup" "0" "02325" "AP1G1_000014" "g.71807130dup" "" "" "" "AP1G1(NM_001030007.2):c.467dupA (p.A157Gfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950724" "0" "30" "16" "71768554" "71768554" "subst" "8.1217E-6" "02325" "AP1G1_000015" "g.71768554C>T" "" "" "" "AP1G1(NM_001030007.2):c.2334G>A (p.T778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968491" "0" "70" "16" "71798556" "71798556" "subst" "0" "02327" "AP1G1_000016" "g.71798556A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982041" "0" "50" "16" "71787737" "71787737" "subst" "4.46886E-5" "02325" "AP1G1_000017" "g.71787737G>A" "" "" "" "AP1G1(NM_001030007.2):c.1292C>T (p.T431M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982042" "0" "70" "16" "71807123" "71807123" "subst" "0" "02329" "AP1G1_000018" "g.71807123C>A" "" "" "" "AP1G1(NM_001030007.2):c.468+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000989880" "0" "50" "16" "71807129" "71807129" "subst" "0" "00006" "AP1G1_000019" "g.71807129T>C" "" "{PMID:Cappi 2016:27023170}" "" "K155E" "" "De novo" "" "" "0" "" "" "g.71773226T>C" "" "VUS" "" "0001002538" "0" "50" "16" "71779076" "71779076" "subst" "0" "01804" "AP1G1_000020" "g.71779076A>G" "" "" "" "AP1G1(NM_001128.5):c.1970T>C (p.(Leu657Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002539" "0" "50" "16" "71787790" "71787790" "subst" "4.06729E-6" "01804" "AP1G1_000021" "g.71787790C>A" "" "" "" "AP1G1(NM_001128.5):c.1230G>T (p.(Lys410Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002540" "0" "50" "16" "71803572" "71803572" "subst" "0" "01804" "AP1G1_000022" "g.71803572G>T" "" "" "" "AP1G1(NM_001128.5):c.596C>A (p.(Thr199Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041323" "0" "50" "16" "71768615" "71768615" "subst" "4.06217E-5" "01804" "AP1G1_000023" "g.71768615G>C" "" "" "" "AP1G1(NM_001128.6):c.2269-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041324" "0" "30" "16" "71778771" "71778771" "subst" "0" "01804" "AP1G1_000024" "g.71778771G>A" "" "" "" "AP1G1(NM_001128.6):c.1999+276C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041325" "0" "30" "16" "71795706" "71795706" "subst" "0" "01804" "AP1G1_000025" "g.71795706C>A" "" "" "" "AP1G1(NM_001128.6):c.919-236G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041326" "0" "30" "16" "71805160" "71805160" "del" "0" "01804" "AP1G1_000026" "g.71805160del" "" "" "" "AP1G1(NM_001128.6):c.469-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041327" "0" "30" "16" "71823575" "71823575" "subst" "0" "01804" "AP1G1_000027" "g.71823575A>G" "" "" "" "AP1G1(NM_001128.6):c.-3-190T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046579" "0" "30" "16" "71772912" "71772912" "subst" "2.84276E-5" "02325" "AP1G1_000028" "g.71772912G>A" "" "" "" "AP1G1(NM_001030007.2):c.2210C>T (p.T737M)" "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 AP1G1 ## Count = 32 "{{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}}" "0000559027" "00002625" "50" "229" "0" "229" "0" "c.229del" "r.(?)" "p.(Gln77LysfsTer11)" "" "0000616116" "00002625" "50" "928" "-2" "928" "-2" "c.928-2A>C" "r.spl?" "p.?" "" "0000788818" "00002625" "70" "737" "0" "737" "0" "c.737C>A" "r.(?)" "p.(Pro246His)" "" "0000788819" "00002625" "70" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Met369Val)" "" "0000788820" "00002625" "70" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Met369Val)" "" "0000788821" "00002625" "70" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15Gln)" "" "0000788822" "00002625" "70" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Trp)" "" "0000788823" "00002625" "70" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Trp)" "" "0000788824" "00002625" "70" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000788825" "00002625" "70" "229" "0" "229" "0" "c.229del" "r.(?)" "p.(Gln77LysfsTer11)" "" "0000788826" "00002625" "70" "399" "0" "400" "0" "c.399_400del" "r.(?)" "p.(Glu133AspfsTer37)" "" "0000788827" "00002625" "70" "747" "0" "747" "0" "c.747G>T" "r.(652_747del)" "p.(Leu218_Gln249del)" "" "0000788828" "00002625" "70" "928" "-2" "928" "-2" "c.928-2A>C" "r.(?)" "p.?" "" "0000788829" "00002625" "70" "2459" "0" "2459" "0" "c.2459C>G" "r.(?)" "p.(Pro820Arg)" "" "0000893169" "00002625" "70" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796*)" "" "0000914684" "00002625" "90" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000930651" "00002625" "70" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Gln446*)" "" "0000930652" "00002625" "70" "467" "0" "467" "0" "c.467dup" "r.(?)" "p.(Ala157Glyfs*14)" "" "0000950724" "00002625" "30" "2334" "0" "2334" "0" "c.2334G>A" "r.(?)" "p.(=)" "" "0000968491" "00002625" "70" "821" "0" "821" "0" "c.821T>A" "r.(?)" "p.(Leu274*)" "" "0000982041" "00002625" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Met)" "" "0000982042" "00002625" "70" "468" "1" "468" "1" "c.468+1G>T" "r.spl?" "p.?" "" "0000989880" "00002625" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Lys155Glu)" "" "0001002538" "00002625" "50" "1979" "0" "1979" "0" "c.1979T>C" "r.(?)" "p.(Leu660Pro)" "" "0001002539" "00002625" "50" "1239" "0" "1239" "0" "c.1239G>T" "r.(?)" "p.(Lys413Asn)" "" "0001002540" "00002625" "50" "596" "0" "596" "0" "c.596C>A" "r.(?)" "p.(Thr199Lys)" "" "0001041323" "00002625" "50" "2278" "-5" "2278" "-5" "c.2278-5C>G" "r.spl?" "p.?" "" "0001041324" "00002625" "30" "2008" "276" "2008" "276" "c.2008+276C>T" "r.(=)" "p.(=)" "" "0001041325" "00002625" "30" "928" "-236" "928" "-236" "c.928-236G>T" "r.(=)" "p.(=)" "" "0001041326" "00002625" "30" "469" "-5" "469" "-5" "c.469-5del" "r.spl?" "p.?" "" "0001041327" "00002625" "30" "-3" "-190" "-3" "-190" "c.-3-190T>C" "r.(=)" "p.(=)" "" "0001046579" "00002625" "30" "2210" "0" "2210" "0" "c.2210C>T" "r.(?)" "p.(Thr737Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000376765" "0000788818" "0000376766" "0000788819" "0000376767" "0000788820" "0000376768" "0000788821" "0000376769" "0000788822" "0000376770" "0000788823" "0000376771" "0000788824" "0000376772" "0000788825" "0000376773" "0000788826" "0000376774" "0000788827" "0000376775" "0000788828" "0000376776" "0000788829" "0000454926" "0000989880"