### 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/Lung}}" "{{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"