### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP5Z1) # 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}}" "AP5Z1" "adaptor related protein complex 5 zeta 1 subunit" "7" "p22.1" "unknown" "NC_000007.13" "UD_145621933959" "" "http://www.LOVD.nl/AP5Z1" "" "1" "22197" "9907" "613653" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-07 00:00:00" "00006" "2025-04-09 09:20:02" "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}}" "00024366" "AP5Z1" "adaptor-related protein complex 5, zeta 1 subunit" "001" "NM_014855.2" "" "NP_055670.1" "" "" "" "-85" "5434" "2424" "4815262" "4834026" "00000" "2017-08-07 17:05:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03377" "SPG48" "paraplegia, spastic, type 48, autosomal recessive" "AR" "613647" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-04-09 09:21:19" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AP5Z1" "03377" "AP5Z1" "04249" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00294469" "" "" "" "127" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294470" "" "" "" "200" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305165" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305166" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311035" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00464709" "" "" "" "3" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "" "Portugal" "" "0" "" "" "" "Fam1Pat1" "00464710" "" "" "00464709" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "brother" "M" "" "Portugal" "" "0" "" "" "" "Fam1Pat2" "00464711" "" "" "00464709" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "brother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat3" "00464712" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam2Pat4" "00464713" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "" "Fam3Pat5" "00464714" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Israel" "" "0" "" "" "" "Fam4Pat6" "00464715" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam5Pat7" "00464716" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam6Pat8" "00464717" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7Pat9" "00464718" "" "" "" "2" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam8Pat10" "00464719" "" "" "00464718" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam8Pat11" "00464720" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Fam9Pat12" "00464721" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "Fam10Pat13" "00464722" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "Fam11Pat14" "00464723" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam12Pat15" "00464724" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Switzerland" "" "0" "" "" "" "Fam13Pat16" "00464725" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Spain" "" "0" "" "" "" "Fam14Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00294469" "00198" "00294470" "00198" "00305165" "00198" "00305166" "00198" "00311035" "00198" "00464709" "04249" "00464710" "04249" "00464711" "04249" "00464712" "04249" "00464713" "04249" "00464714" "04249" "00464715" "04249" "00464716" "04249" "00464717" "04249" "00464718" "04249" "00464719" "04249" "00464720" "04249" "00464721" "04249" "00464722" "04249" "00464723" "04249" "00464724" "04249" "00464725" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03377, 04249 ## Count = 18 "{{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}}" "0000236299" "00198" "00311035" "01164" "Unknown" "" "Abnormality of central motor function (HP:0011442); Abdominal symptom (HP:0011458); Ataxia (HP:0001251); Episodic vomiting (HP:0002572)" "" "" "" "" "" "" "" "" "" "" "" "0000350694" "04249" "00464709" "00006" "Familial, autosomal recessive" "63y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; pollakiuria" "50y" "" "central vision loss" "" "" "" "" "" "" "macular dystrophy" "" "0000350695" "04249" "00464710" "00006" "Familial, autosomal recessive" "74y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; peripheral neuropathy with paraplegia" "40y" "" "central vision loss" "" "" "" "" "" "" "macular dystrophy" "" "0000350696" "04249" "00464711" "00006" "Familial, autosomal recessive" "63y" "macular dystrophy; blurred vision; extensive central chorioretinal atrophy; no neurological symptoms; 50y-hearing loss" "40y" "" "blurred vision" "" "" "" "" "" "" "macular dystrophy" "" "0000350697" "04249" "00464712" "00006" "Familial, autosomal recessive" "62y" "macular dystrophy; unilateral central vision loss, central scotoma, paresthesia; extensive central chorioretinal atrophy; paresthesia in hands and feet, mild intellectual disability, ataxic gait; impression of hearing loss" "50y" "" "unilateral central vision loss, central scotoma, paresthesia" "" "" "" "" "" "" "macular dystrophy" "" "0000350698" "04249" "00464713" "00006" "Familial, autosomal recessive" "43y" "macular dystrophy; reduced visual acuity; maculopathy with atrophy and deposits; no neurological symptoms; 40y-hearing loss" "43y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy" "" "0000350699" "04249" "00464714" "00006" "Familial, autosomal recessive" "55y" "macular dystrophy; reduced visual acuity; maculopathy with atrophy; no neurological symptoms" "53y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy" "" "0000350700" "04249" "00464715" "00006" "Familial, autosomal recessive" "56y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; pollakiuria; 35y-neurosensory hearing loss; hypercholesterolemia; hypertension; asthma" "47y" "" "central vision loss" "" "" "" "" "" "" "macular dystrophy" "" "0000350701" "04249" "00464716" "00006" "Familial, autosomal recessive" "63y" "macular dystrophy; mostly asymptomatic; extensive central chorioretinal atrophy; no neurological symptoms" "45y" "" "mostly asymptomatic" "" "" "" "" "" "" "macular dystrophy" "" "0000350702" "04249" "00464717" "00006" "Familial, autosomal recessive" "63y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; no neurological symptoms; hypertension; >50y-hearing loss" "50y" "" "central vision loss" "" "" "" "" "" "" "macular dystrophy" "" "0000350703" "04249" "00464718" "00006" "Familial, autosomal recessive" "65y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; no neurological symptoms" "45y" "" "central vision loss" "" "" "" "" "" "" "macular dystrophy" "" "0000350704" "04249" "00464719" "00006" "Familial, autosomal recessive" "63y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; no neurological symptoms; hiatus hernia; diverticulosis and colitis; hypertension; bilateral sensorineural hearing loss (onset late 50s)" ">45y" "" "central vision loss" "" "" "" "" "" "" "macular dystrophy" "" "0000350705" "04249" "00464720" "00006" "Familial, autosomal recessive" "62y" "macular dystrophy; nyctalopia, reduced visual acuity; extensive central chorioretinal atrophy; no neurological symptoms; impression of hearing loss in left ear; hypertension; type 2 diabetes" "54y" "" "nyctalopia, reduced visual acuity" "" "" "" "" "" "" "macular dystrophy" "" "0000350706" "04249" "00464721" "00006" "Familial, autosomal recessive" "59y" "macular dystrophy; problem with reading; extensive central chorioretinal atrophy; no neurological symptoms" "40y" "" "problem with reading" "" "" "" "" "" "" "macular dystrophy" "" "0000350707" "04249" "00464722" "00006" "Familial, autosomal recessive" "32y" "macular dystrophy; metamorphopsias; early maculopathy with deposits; no neurological symptoms; thyroid dysfunction" "31y" "" "metamorphopsias" "" "" "" "" "" "" "macular dystrophy" "" "0000350708" "04249" "00464723" "00006" "Familial, autosomal recessive" "53y" "macular dystrophy; poor central vision; extensive central chorioretinal atrophy; parkinsonism" "44y" "" "poor central vision" "" "" "" "" "" "" "macular dystrophy" "" "0000350709" "04249" "00464724" "00006" "Familial, autosomal recessive" "52y" "macular dystrophy; spastic atactic gait; early maculopathy; spastic atactic paraparesis" "46y" "" "spastic atactic gait" "" "" "" "" "" "" "macular dystrophy" "" "0000350710" "04249" "00464725" "00006" "Familial, autosomal recessive" "44y" "macular dystrophy; paresthesia; early maculopathy with deposits; paresthesia in the right hand" "40y" "" "paresthesia" "" "" "" "" "" "" "macular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295637" "00294469" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295638" "00294470" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306294" "00305165" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306295" "00305166" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312187" "00311035" "1" "01164" "01164" "2020-09-14 10:34:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000466357" "00464709" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466358" "00464710" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466359" "00464711" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466360" "00464712" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466361" "00464713" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466362" "00464714" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466363" "00464715" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466364" "00464716" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466365" "00464717" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466366" "00464718" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466367" "00464719" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466368" "00464720" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466369" "00464721" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466370" "00464722" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466371" "00464723" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466372" "00464724" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466373" "00464725" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 163 "{{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}}" "0000254373" "0" "30" "7" "4825906" "4825906" "subst" "0" "01943" "AP5Z1_000011" "g.4825906A>G" "" "" "" "AP5Z1(NM_014855.3):c.1158A>G (p.E386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4786275A>G" "" "likely benign" "" "0000254919" "0" "30" "7" "4827887" "4827887" "subst" "0.000689217" "01943" "AP5Z1_000012" "g.4827887A>G" "" "" "" "AP5Z1(NM_014855.3):c.1557A>G (p.Q519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4788256A>G" "" "likely benign" "" "0000261009" "0" "10" "7" "4829449" "4829449" "subst" "0.0292875" "02326" "AP5Z1_000013" "g.4829449C>T" "" "" "" "AP5Z1(NM_014855.3):c.1708-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4789818C>T" "" "benign" "" "0000261010" "0" "30" "7" "4829458" "4829458" "subst" "0.0102786" "02326" "AP5Z1_000014" "g.4829458C>T" "" "" "" "AP5Z1(NM_014855.3):c.1708-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4789827C>T" "" "likely benign" "" "0000261011" "0" "10" "7" "4830463" "4830463" "subst" "0.0167719" "02326" "AP5Z1_000016" "g.4830463G>A" "" "" "" "AP5Z1(NM_014855.3):c.2098G>A (p.(Val700Met), p.V700M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4790832G>A" "" "benign" "" "0000262604" "0" "50" "7" "4820928" "4820928" "subst" "0.00018294" "01943" "AP5Z1_000001" "g.4820928C>T" "" "" "" "AP5Z1(NM_014855.3):c.164C>T (p.T55M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4781297C>T" "" "VUS" "" "0000262605" "0" "30" "7" "4830190" "4830190" "subst" "0" "01943" "AP5Z1_000015" "g.4830190C>G" "" "" "" "AP5Z1(NM_014855.3):c.1906C>G (p.L636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4790559C>G" "" "likely benign" "" "0000262606" "0" "10" "7" "4830822" "4830822" "subst" "0.00249097" "01943" "AP5Z1_000017" "g.4830822G>A" "" "" "" "AP5Z1(NM_014855.3):c.2230G>A (p.A744T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4791191G>A" "" "benign" "" "0000262607" "0" "30" "7" "4822959" "4822959" "subst" "0.00243186" "01943" "AP5Z1_000002" "g.4822959G>A" "" "" "" "AP5Z1(NM_014855.3):c.379G>A (p.E127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4783328G>A" "" "likely benign" "" "0000262608" "0" "30" "7" "4822985" "4822985" "subst" "4.49769E-5" "01943" "AP5Z1_000003" "g.4822985C>T" "" "" "" "AP5Z1(NM_014855.3):c.405C>T (p.G135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4783354C>T" "" "likely benign" "" "0000262609" "0" "10" "7" "4823008" "4823008" "subst" "0.00077848" "01943" "AP5Z1_000004" "g.4823008G>A" "" "" "" "AP5Z1(NM_014855.3):c.428G>A (p.R143Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4783377G>A" "" "benign" "" "0000262610" "0" "50" "7" "4823061" "4823061" "subst" "0.0015841" "01943" "AP5Z1_000005" "g.4823061G>A" "" "" "" "AP5Z1(NM_014855.3):c.481G>A (p.V161M, p.(Val161Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4783430G>A" "" "VUS" "" "0000262611" "0" "30" "7" "4823366" "4823366" "subst" "0.000590224" "01943" "AP5Z1_000006" "g.4823366C>T" "" "" "" "AP5Z1(NM_014855.3):c.558C>T (p.Y186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4783735C>T" "" "likely benign" "" "0000262612" "0" "10" "7" "4823396" "4823396" "subst" "0.00135085" "01943" "AP5Z1_000007" "g.4823396C>T" "" "" "" "AP5Z1(NM_014855.3):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4783765C>T" "" "benign" "" "0000262613" "0" "30" "7" "4824534" "4824534" "subst" "0.00144175" "01943" "AP5Z1_000008" "g.4824534C>T" "" "" "" "AP5Z1(NM_014855.3):c.791-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784903C>T" "" "likely benign" "" "0000262614" "0" "50" "7" "4824623" "4824623" "subst" "7.91713E-5" "01943" "AP5Z1_000009" "g.4824623G>A" "" "" "" "AP5Z1(NM_014855.3):c.875G>A (p.R292Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784992G>A" "" "VUS" "" "0000262615" "0" "30" "7" "4824629" "4824629" "subst" "0.00315975" "01943" "AP5Z1_000010" "g.4824629G>A" "" "" "" "AP5Z1(NM_014855.2):c.881G>A (p.(Arg294Gln)), AP5Z1(NM_014855.3):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784998G>A" "" "likely benign" "" "0000338271" "0" "30" "7" "4824533" "4824533" "subst" "4.63751E-5" "02327" "AP5Z1_000020" "g.4824533C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784902C>T" "" "likely benign" "" "0000338272" "0" "50" "7" "4827263" "4827263" "subst" "0" "02327" "AP5Z1_000025" "g.4827263A>G" "" "" "" "AP5Z1(NM_014855.3):c.1312-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4787632A>G" "" "VUS" "" "0000338273" "0" "10" "7" "4828593" "4828593" "subst" "0.132138" "02327" "AP5Z1_000027" "g.4828593T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4788962T>C" "" "benign" "" "0000338274" "0" "10" "7" "4829449" "4829449" "subst" "0.0292875" "02327" "AP5Z1_000013" "g.4829449C>T" "" "" "" "AP5Z1(NM_014855.3):c.1708-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4789818C>T" "" "benign" "" "0000340177" "0" "10" "7" "4823971" "4823971" "subst" "0.130822" "02327" "AP5Z1_000018" "g.4823971C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784340C>T" "" "benign" "" "0000340178" "0" "30" "7" "4823992" "4823992" "subst" "0.00163075" "02327" "AP5Z1_000019" "g.4823992C>A" "" "" "" "AP5Z1(NM_014855.3):c.780C>A (p.T260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784361C>A" "" "likely benign" "" "0000340179" "0" "10" "7" "4825314" "4825314" "subst" "0.0764498" "02327" "AP5Z1_000024" "g.4825314C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4785683C>T" "" "benign" "" "0000340180" "0" "10" "7" "4827330" "4827330" "subst" "0.0815506" "02327" "AP5Z1_000026" "g.4827330C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4787699C>T" "" "benign" "" "0000340181" "0" "10" "7" "4830330" "4830330" "subst" "0.000136195" "02327" "AP5Z1_000028" "g.4830330G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4790699G>A" "" "benign" "" "0000342561" "0" "30" "7" "4824629" "4824629" "subst" "0.00315975" "02327" "AP5Z1_000010" "g.4824629G>A" "" "" "" "AP5Z1(NM_014855.2):c.881G>A (p.(Arg294Gln)), AP5Z1(NM_014855.3):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4784998G>A" "" "likely benign" "" "0000342719" "0" "50" "7" "4825250" "4825250" "subst" "5.42129E-6" "02327" "AP5Z1_000022" "g.4825250G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4785619G>A" "" "VUS" "" "0000344752" "0" "90" "7" "4824667" "4824667" "subst" "4.15348E-6" "02327" "AP5Z1_000021" "g.4824667C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4785036C>T" "" "pathogenic" "" "0000347127" "0" "10" "7" "4825307" "4825307" "subst" "0.0793438" "02327" "AP5Z1_000023" "g.4825307T>A" "" "" "" "AP5Z1(NM_014855.3):c.1124T>A (p.L375Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4785676T>A" "" "benign" "" "0000532165" "0" "30" "7" "4820890" "4820890" "subst" "0.000946362" "01943" "AP5Z1_000029" "g.4820890C>T" "" "" "" "AP5Z1(NM_014855.3):c.126C>T (p.L42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781259C>T" "" "likely benign" "" "0000532166" "0" "30" "7" "4821300" "4821300" "subst" "0.0172593" "01804" "AP5Z1_000030" "g.4821300C>G" "" "" "" "AP5Z1(NM_014855.2):c.281C>G (p.(Ser94Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781669C>G" "" "likely benign" "" "0000532167" "0" "30" "7" "4821352" "4821352" "subst" "0.0170904" "01804" "AP5Z1_000031" "g.4821352G>C" "" "" "" "AP5Z1(NM_014855.2):c.333G>C (p.(Gln111His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781721G>C" "" "likely benign" "" "0000532168" "0" "30" "7" "4821390" "4821390" "subst" "0.000653165" "01943" "AP5Z1_000032" "g.4821390C>T" "" "" "" "AP5Z1(NM_014855.3):c.366+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781759C>T" "" "likely benign" "" "0000532169" "0" "50" "7" "4823415" "4823415" "subst" "6.78352E-6" "01943" "AP5Z1_000033" "g.4823415C>G" "" "" "" "AP5Z1(NM_014855.3):c.607C>G (p.P203A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4783784C>G" "" "VUS" "" "0000532170" "0" "50" "7" "4823840" "4823840" "subst" "8.01282E-5" "01804" "AP5Z1_000034" "g.4823840C>T" "" "" "" "AP5Z1(NM_014855.3):c.628C>T (p.(Pro210Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784209C>T" "" "VUS" "" "0000532171" "0" "50" "7" "4823883" "4823883" "subst" "0.000173513" "01943" "AP5Z1_000035" "g.4823883C>T" "" "" "" "AP5Z1(NM_014855.3):c.671C>T (p.T224M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784252C>T" "" "VUS" "" "0000532172" "0" "30" "7" "4823992" "4823992" "subst" "0.00163075" "01943" "AP5Z1_000019" "g.4823992C>A" "" "" "" "AP5Z1(NM_014855.3):c.780C>A (p.T260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784361C>A" "" "likely benign" "" "0000532173" "0" "30" "7" "4824573" "4824573" "subst" "4.15224E-5" "01943" "AP5Z1_000036" "g.4824573G>A" "" "" "" "AP5Z1(NM_014855.3):c.825G>A (p.S275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784942G>A" "" "likely benign" "" "0000532174" "0" "30" "7" "4824597" "4824597" "subst" "0.000319287" "01943" "AP5Z1_000037" "g.4824597C>T" "" "" "" "AP5Z1(NM_014855.3):c.849C>T (p.A283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784966C>T" "" "likely benign" "" "0000532175" "0" "30" "7" "4824629" "4824629" "subst" "0.00315975" "01804" "AP5Z1_000010" "g.4824629G>A" "" "" "" "AP5Z1(NM_014855.2):c.881G>A (p.(Arg294Gln)), AP5Z1(NM_014855.3):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784998G>A" "" "likely benign" "" "0000532176" "0" "30" "7" "4824639" "4824639" "subst" "0.000103006" "01943" "AP5Z1_000038" "g.4824639C>T" "" "" "" "AP5Z1(NM_014855.3):c.891C>T (p.A297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785008C>T" "" "likely benign" "" "0000532177" "0" "30" "7" "4824648" "4824648" "subst" "0.000888808" "01943" "AP5Z1_000039" "g.4824648C>T" "" "" "" "AP5Z1(NM_014855.3):c.900C>T (p.Y300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785017C>T" "" "likely benign" "" "0000532178" "0" "50" "7" "4824662" "4824662" "subst" "8.26515E-6" "01943" "AP5Z1_000040" "g.4824662T>C" "" "" "" "AP5Z1(NM_014855.3):c.914T>C (p.I305T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785031T>C" "" "VUS" "" "0000532179" "0" "30" "7" "4825149" "4825149" "subst" "0.000143585" "01943" "AP5Z1_000041" "g.4825149G>A" "" "" "" "AP5Z1(NM_014855.3):c.970-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785518G>A" "" "likely benign" "" "0000532180" "0" "50" "7" "4825315" "4825315" "subst" "0.000153084" "01943" "AP5Z1_000042" "g.4825315G>A" "" "" "" "AP5Z1(NM_014855.2):c.1132G>A (p.(Gly378Arg)), AP5Z1(NM_014855.3):c.1132G>A (p.G378R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785684G>A" "" "VUS" "" "0000532182" "0" "30" "7" "4826002" "4826002" "subst" "0.000113718" "01943" "AP5Z1_000043" "g.4826002C>G" "" "" "" "AP5Z1(NM_014855.3):c.1254C>G (p.L418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4786371C>G" "" "likely benign" "" "0000532183" "0" "30" "7" "4826008" "4826008" "subst" "6.09216E-5" "01943" "AP5Z1_000044" "g.4826008G>A" "" "" "" "AP5Z1(NM_014855.3):c.1260G>A (p.L420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4786377G>A" "" "likely benign" "" "0000532184" "0" "30" "7" "4826049" "4826049" "subst" "4.06332E-6" "01943" "AP5Z1_000045" "g.4826049A>G" "" "" "" "AP5Z1(NM_014855.3):c.1301A>G (p.N434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4786418A>G" "" "likely benign" "" "0000532185" "0" "50" "7" "4827275" "4827275" "subst" "0" "01943" "AP5Z1_000046" "g.4827275G>A" "" "" "" "AP5Z1(NM_014855.3):c.1322G>A (p.W441*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4787644G>A" "" "VUS" "" "0000532186" "0" "30" "7" "4827318" "4827318" "subst" "0" "01943" "AP5Z1_000047" "g.4827318G>A" "" "" "" "AP5Z1(NM_014855.3):c.1365G>A (p.P455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4787687G>A" "" "likely benign" "" "0000532187" "0" "30" "7" "4827387" "4827387" "subst" "0.000112491" "01943" "AP5Z1_000048" "g.4827387G>A" "" "" "" "AP5Z1(NM_014855.3):c.1434G>A (p.A478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4787756G>A" "" "likely benign" "" "0000532188" "0" "30" "7" "4827859" "4827859" "subst" "0.0179726" "01804" "AP5Z1_000049" "g.4827859G>A" "" "" "" "AP5Z1(NM_014855.2):c.1529G>A (p.(Arg510Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4788228G>A" "" "likely benign" "" "0000532189" "0" "30" "7" "4827903" "4827903" "subst" "0.000597177" "01943" "AP5Z1_000050" "g.4827903A>C" "" "" "" "AP5Z1(NM_014855.3):c.1573A>C (p.K525Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4788272A>C" "" "likely benign" "" "0000532190" "0" "30" "7" "4829528" "4829528" "subst" "0.00074184" "01943" "AP5Z1_000051" "g.4829528C>T" "" "" "" "AP5Z1(NM_014855.3):c.1773C>T (p.Y591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4789897C>T" "" "likely benign" "" "0000532191" "0" "30" "7" "4829540" "4829540" "subst" "0.000287876" "01943" "AP5Z1_000052" "g.4829540G>T" "" "" "" "AP5Z1(NM_014855.3):c.1785G>T (p.G595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4789909G>T" "" "likely benign" "" "0000532192" "0" "50" "7" "4830466" "4830466" "subst" "0" "01943" "AP5Z1_000053" "g.4830466C>G" "" "" "" "AP5Z1(NM_014855.3):c.2101C>G (p.L701V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4790835C>G" "" "VUS" "" "0000532193" "0" "50" "7" "4830526" "4830526" "subst" "0.000332188" "01943" "AP5Z1_000054" "g.4830526G>A" "" "" "" "AP5Z1(NM_014855.3):c.2153+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4790895G>A" "" "VUS" "" "0000532194" "0" "50" "7" "4830812" "4830812" "subst" "8.23683E-6" "01943" "AP5Z1_000055" "g.4830812C>T" "" "" "" "AP5Z1(NM_014855.3):c.2220C>T (p.S740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4791181C>T" "" "VUS" "" "0000532198" "0" "30" "7" "4839025" "4839025" "subst" "0.000264157" "01943" "PAPOLB_000002" "g.4839025C>T" "" "" "" "RADIL(NM_018059.4):c.3212G>A (p.R1071H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4799394C>T" "" "likely benign" "" "0000611122" "0" "50" "7" "4825086" "4825089" "dup" "0" "02325" "AP5Z1_000060" "g.4825086_4825089dup" "" "" "" "AP5Z1(NM_014855.3):c.969_969+1insGTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785455_4785458dup" "" "VUS" "" "0000611123" "0" "30" "7" "4825279" "4825279" "subst" "0" "01804" "AP5Z1_000061" "g.4825279G>T" "" "" "" "AP5Z1(NM_014855.2):c.1096G>T (p.(Val366Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785648G>T" "" "likely benign" "" "0000611124" "0" "30" "7" "4827857" "4827857" "subst" "2.76717E-5" "01943" "AP5Z1_000063" "g.4827857C>T" "" "" "" "AP5Z1(NM_014855.3):c.1527C>T (p.F509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4788226C>T" "" "likely benign" "" "0000611125" "0" "90" "7" "4830467" "4830467" "subst" "0" "02327" "AP5Z1_000066" "g.4830467T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4790836T>C" "" "pathogenic" "" "0000621895" "0" "50" "7" "4820844" "4820844" "subst" "8.12282E-5" "01943" "AP5Z1_000056" "g.4820844G>T" "" "" "" "AP5Z1(NM_014855.3):c.80G>T (p.R27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781213G>T" "" "VUS" "" "0000621896" "0" "50" "7" "4820845" "4820846" "ins" "8.12255E-5" "01943" "AP5Z1_000057" "g.4820845_4820846insCTGTAAACTGTAACTGTA" "" "" "" "AP5Z1(NM_014855.3):c.81_82insCTGTAAACTGTAACTGTA (p.I28delinsL*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781214_4781215insCTGTAAACTGTAACTGTA" "" "VUS" "" "0000621897" "0" "50" "7" "4820847" "4820847" "subst" "8.12236E-5" "01943" "AP5Z1_000058" "g.4820847T>A" "" "" "" "AP5Z1(NM_014855.3):c.83T>A (p.I28N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781216T>A" "" "VUS" "" "0000621898" "0" "30" "7" "4821389" "4821389" "subst" "3.84231E-5" "01943" "AP5Z1_000059" "g.4821389G>A" "" "" "" "AP5Z1(NM_014855.3):c.366+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4781758G>A" "" "likely benign" "" "0000621899" "0" "50" "7" "4825306" "4825306" "subst" "1.95097E-5" "01943" "AP5Z1_000062" "g.4825306C>G" "" "" "" "AP5Z1(NM_014855.3):c.1123C>G (p.L375V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4785675C>G" "" "VUS" "" "0000621900" "0" "30" "7" "4827893" "4827893" "subst" "0.000363115" "01943" "AP5Z1_000064" "g.4827893G>A" "" "" "" "AP5Z1(NM_014855.3):c.1563G>A (p.L521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4788262G>A" "" "likely benign" "" "0000621901" "0" "30" "7" "4830318" "4830318" "subst" "0.000320982" "01943" "AP5Z1_000065" "g.4830318C>T" "" "" "" "AP5Z1(NM_014855.3):c.1953C>T (p.G651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4790687C>T" "" "likely benign" "" "0000621902" "0" "30" "7" "4830879" "4830879" "subst" "0.000105994" "01943" "AP5Z1_000067" "g.4830879G>A" "" "" "" "AP5Z1(NM_014855.3):c.2287G>A (p.V763M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4791248G>A" "" "likely benign" "" "0000652326" "1" "30" "7" "4827859" "4827859" "subst" "0.0179726" "03575" "AP5Z1_000049" "g.4827859G>A" "127/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "127 heterozygous; {DB:CLININrs77890266}" "Germline" "" "rs77890266" "0" "" "" "g.4788228G>A" "" "likely benign" "" "0000652327" "1" "30" "7" "4831394" "4831394" "subst" "0" "03575" "AP5Z1_000068" "g.4831394T>C" "200/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "200 heterozygous; {DB:CLININrs12154696}" "Germline" "" "rs12154696" "0" "" "" "g.4791763T>C" "" "likely benign" "" "0000655850" "0" "50" "7" "4824622" "4824622" "subst" "0.000304195" "01943" "AP5Z1_000069" "g.4824622C>T" "" "" "" "AP5Z1(NM_014855.3):c.874C>T (p.R292W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4784991C>T" "" "VUS" "" "0000669982" "3" "30" "7" "4827859" "4827859" "subst" "0.0179726" "03575" "AP5Z1_000049" "g.4827859G>A" "2/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs77890266}" "Germline" "" "rs77890266" "0" "" "" "g.4788228G>A" "" "likely benign" "" "0000669983" "3" "30" "7" "4831394" "4831394" "subst" "0" "03575" "AP5Z1_000068" "g.4831394T>C" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs12154696}" "Germline" "" "rs12154696" "0" "" "" "g.4791763T>C" "" "likely benign" "" "0000678120" "0" "30" "7" "4821256" "4821256" "subst" "1.65703E-5" "01943" "AP5Z1_000070" "g.4821256C>T" "" "" "" "AP5Z1(NM_014855.3):c.237C>T (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678121" "0" "30" "7" "4827803" "4827803" "subst" "5.09165E-5" "01943" "AP5Z1_000071" "g.4827803C>T" "" "" "" "AP5Z1(NM_014855.3):c.1473C>T (p.S491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678122" "0" "50" "7" "4830176" "4830176" "subst" "0" "01943" "AP5Z1_000072" "g.4830176G>A" "" "" "" "AP5Z1(NM_014855.3):c.1892G>A (p.G631D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687740" "0" "50" "7" "4825929" "4825929" "subst" "0" "01164" "AP5Z1_000074" "g.4825929C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000687741" "0" "50" "7" "4827828" "4827828" "subst" "0" "01164" "AP5Z1_000075" "g.4827828C>T" "" "" "" "" "" "Germline" "" "rs756486052" "0" "" "" "" "" "VUS" "" "0000690019" "0" "50" "7" "4821332" "4821332" "subst" "0.000457822" "02327" "AP5Z1_000073" "g.4821332C>T" "" "" "" "AP5Z1(NM_014855.3):c.313C>T (p.H105Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690020" "0" "50" "7" "4824622" "4824622" "subst" "0.000304195" "02327" "AP5Z1_000069" "g.4824622C>T" "" "" "" "AP5Z1(NM_014855.3):c.874C>T (p.R292W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721480" "0" "50" "7" "4821332" "4821332" "subst" "0.000457822" "01943" "AP5Z1_000073" "g.4821332C>T" "" "" "" "AP5Z1(NM_014855.3):c.313C>T (p.H105Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721481" "0" "50" "7" "4821347" "4821347" "subst" "2.52657E-5" "01943" "AP5Z1_000076" "g.4821347C>T" "" "" "" "AP5Z1(NM_014855.2):c.328C>T (p.(Arg110Trp)), AP5Z1(NM_014855.3):c.328C>T (p.R110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721482" "0" "50" "7" "4821347" "4821347" "subst" "2.52657E-5" "01804" "AP5Z1_000076" "g.4821347C>T" "" "" "" "AP5Z1(NM_014855.2):c.328C>T (p.(Arg110Trp)), AP5Z1(NM_014855.3):c.328C>T (p.R110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721483" "0" "30" "7" "4823978" "4823978" "subst" "0" "01943" "AP5Z1_000077" "g.4823978G>A" "" "" "" "AP5Z1(NM_014855.3):c.766G>A (p.E256K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721484" "0" "50" "7" "4827263" "4827263" "subst" "0" "02325" "AP5Z1_000025" "g.4827263A>G" "" "" "" "AP5Z1(NM_014855.3):c.1312-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721485" "0" "30" "7" "4827294" "4827294" "subst" "0.000307073" "01943" "AP5Z1_000078" "g.4827294C>T" "" "" "" "AP5Z1(NM_014855.3):c.1341C>T (p.T447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721486" "0" "30" "7" "4827934" "4827934" "subst" "3.71207E-5" "01943" "AP5Z1_000079" "g.4827934C>T" "" "" "" "AP5Z1(NM_014855.3):c.1595+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721487" "0" "30" "7" "4828492" "4828492" "subst" "2.56095E-5" "01943" "AP5Z1_000080" "g.4828492G>C" "" "" "" "AP5Z1(NM_014855.3):c.1617G>C (p.L539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721488" "0" "30" "7" "4828495" "4828495" "subst" "8.53322E-6" "01943" "AP5Z1_000081" "g.4828495G>A" "" "" "" "AP5Z1(NM_014855.3):c.1620G>A (p.L540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721489" "0" "30" "7" "4829564" "4829564" "subst" "7.25458E-6" "01943" "AP5Z1_000082" "g.4829564G>C" "" "" "" "AP5Z1(NM_014855.3):c.1805+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803172" "0" "30" "7" "4825903" "4825903" "subst" "0.000389434" "01943" "AP5Z1_000083" "g.4825903G>A" "" "" "" "AP5Z1(NM_014855.3):c.1155G>A (p.S385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803173" "0" "50" "7" "4827906" "4827906" "subst" "0" "01943" "AP5Z1_000084" "g.4827906G>A" "" "" "" "AP5Z1(NM_014855.2):c.1576G>A (p.(Ala526Thr)), AP5Z1(NM_014855.3):c.1576G>A (p.A526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803174" "0" "50" "7" "4830220" "4830220" "subst" "0.00119014" "01943" "AP5Z1_000085" "g.4830220G>A" "" "" "" "AP5Z1(NM_014855.3):c.1936G>A (p.V646M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803175" "0" "50" "7" "4830314" "4830314" "subst" "0" "01943" "AP5Z1_000086" "g.4830314T>G" "" "" "" "AP5Z1(NM_014855.3):c.1949T>G (p.I650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851627" "0" "50" "7" "4820891" "4820891" "subst" "4.06194E-6" "02325" "AP5Z1_000087" "g.4820891G>C" "" "" "" "AP5Z1(NM_014855.3):c.127G>C (p.D43H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851628" "0" "50" "7" "4827331" "4827331" "subst" "0.000171488" "02329" "AP5Z1_000089" "g.4827331G>A" "" "" "" "AP5Z1(NM_014855.3):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851629" "0" "30" "7" "4830525" "4830525" "subst" "0" "01943" "AP5Z1_000092" "g.4830525G>A" "" "" "" "AP5Z1(NM_014855.3):c.2153+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860846" "0" "50" "7" "4823007" "4823007" "subst" "2.03824E-5" "01943" "AP5Z1_000088" "g.4823007C>T" "" "" "" "AP5Z1(NM_014855.3):c.427C>T (p.R143W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860847" "0" "30" "7" "4827794" "4827794" "subst" "0.000633968" "01943" "AP5Z1_000090" "g.4827794G>A" "" "" "" "AP5Z1(NM_014855.3):c.1464G>A (p.P488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860848" "0" "30" "7" "4830445" "4830445" "subst" "4.23574E-6" "01943" "AP5Z1_000091" "g.4830445C>A" "" "" "" "AP5Z1(NM_014855.3):c.2080C>A (p.P694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860849" "0" "50" "7" "4830829" "4830829" "subst" "0" "01943" "AP5Z1_000093" "g.4830829C>T" "" "" "" "AP5Z1(NM_014855.3):c.2237C>T (p.A746V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860850" "0" "50" "7" "4830946" "4830946" "subst" "3.3203E-5" "01943" "AP5Z1_000094" "g.4830946C>G" "" "" "" "AP5Z1(NM_014855.3):c.2354C>G (p.T785R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887907" "0" "30" "7" "4823992" "4823992" "subst" "0.00163075" "02326" "AP5Z1_000019" "g.4823992C>A" "" "" "" "AP5Z1(NM_014855.3):c.780C>A (p.T260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887908" "0" "10" "7" "4825307" "4825307" "subst" "0.0793438" "02326" "AP5Z1_000023" "g.4825307T>A" "" "" "" "AP5Z1(NM_014855.3):c.1124T>A (p.L375Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887909" "0" "30" "7" "4826014" "4826014" "subst" "0.000154346" "02326" "AP5Z1_000095" "g.4826014C>T" "" "" "" "AP5Z1(NM_014855.3):c.1266C>T (p.S422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887910" "0" "30" "7" "4830822" "4830822" "subst" "0.00249097" "02326" "AP5Z1_000017" "g.4830822G>A" "" "" "" "AP5Z1(NM_014855.3):c.2230G>A (p.A744T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912764" "0" "10" "7" "4823008" "4823008" "subst" "0.00077848" "02326" "AP5Z1_000004" "g.4823008G>A" "" "" "" "AP5Z1(NM_014855.3):c.428G>A (p.R143Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924735" "0" "30" "7" "4822949" "4822949" "subst" "0.00104179" "02326" "AP5Z1_000096" "g.4822949T>C" "" "" "" "AP5Z1(NM_014855.3):c.369T>C (p.G123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924736" "0" "30" "7" "4824629" "4824629" "subst" "0.00315975" "02326" "AP5Z1_000010" "g.4824629G>A" "" "" "" "AP5Z1(NM_014855.2):c.881G>A (p.(Arg294Gln)), AP5Z1(NM_014855.3):c.881G>A (p.R294Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924737" "0" "30" "7" "4830920" "4830920" "subst" "0.00110981" "02326" "AP5Z1_000097" "g.4830920C>A" "" "" "" "AP5Z1(NM_014855.3):c.2328C>A (p.S776R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964610" "0" "30" "7" "4828507" "4828507" "subst" "9.76894E-5" "02326" "AP5Z1_000098" "g.4828507C>T" "" "" "" "AP5Z1(NM_014855.3):c.1632C>T (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977746" "0" "30" "7" "4823313" "4823313" "subst" "0.019072" "01804" "AP5Z1_000099" "g.4823313A>G" "" "" "" "AP5Z1(NM_014855.3):c.512-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977747" "0" "30" "7" "4827268" "4827268" "subst" "0.000562132" "02326" "AP5Z1_000100" "g.4827268C>T" "" "" "" "AP5Z1(NM_014855.3):c.1315C>T (p.L439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977748" "0" "30" "7" "4827887" "4827887" "subst" "0.000689217" "02326" "AP5Z1_000012" "g.4827887A>G" "" "" "" "AP5Z1(NM_014855.3):c.1557A>G (p.Q519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977749" "0" "30" "7" "4827893" "4827893" "subst" "0.000363115" "02326" "AP5Z1_000064" "g.4827893G>A" "" "" "" "AP5Z1(NM_014855.3):c.1563G>A (p.L521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977750" "0" "50" "7" "4827915" "4827915" "subst" "0" "01804" "AP5Z1_000101" "g.4827915G>A" "" "" "" "AP5Z1(NM_014855.3):c.1585G>A (p.(Ala529Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977752" "0" "30" "7" "4830295" "4830295" "subst" "0.0129154" "01804" "AP5Z1_000102" "g.4830295C>T" "" "" "" "AP5Z1(NM_014855.3):c.1939-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977753" "0" "30" "7" "4830463" "4830463" "subst" "0.0167719" "01804" "AP5Z1_000016" "g.4830463G>A" "" "" "" "AP5Z1(NM_014855.3):c.2098G>A (p.(Val700Met), p.V700M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977754" "0" "30" "7" "4830897" "4830897" "subst" "0.000669262" "02326" "AP5Z1_000103" "g.4830897A>G" "" "" "" "AP5Z1(NM_014855.3):c.2305A>G (p.T769A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996557" "0" "30" "7" "4823095" "4823095" "subst" "2.46223E-5" "02325" "AP5Z1_000104" "g.4823095C>T" "" "" "" "AP5Z1(NM_014855.3):c.511+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996558" "0" "50" "7" "4823425" "4823425" "subst" "5.51215E-5" "01804" "AP5Z1_000105" "g.4823425G>A" "" "" "" "AP5Z1(NM_014855.2):c.617G>A (p.(Arg206Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996559" "0" "50" "7" "4825315" "4825315" "subst" "0.000153084" "01804" "AP5Z1_000042" "g.4825315G>A" "" "" "" "AP5Z1(NM_014855.2):c.1132G>A (p.(Gly378Arg)), AP5Z1(NM_014855.3):c.1132G>A (p.G378R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996560" "0" "30" "7" "4827359" "4827359" "subst" "4.71596E-5" "01804" "AP5Z1_000106" "g.4827359C>A" "" "" "" "AP5Z1(NM_014855.2):c.1406C>A (p.(Ala469Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996561" "0" "30" "7" "4827906" "4827906" "subst" "0" "01804" "AP5Z1_000084" "g.4827906G>A" "" "" "" "AP5Z1(NM_014855.2):c.1576G>A (p.(Ala526Thr)), AP5Z1(NM_014855.3):c.1576G>A (p.A526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996562" "0" "30" "7" "4829483" "4829483" "subst" "0.000349987" "02326" "AP5Z1_000107" "g.4829483C>A" "" "" "" "AP5Z1(NM_014855.3):c.1728C>A (p.I576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014365" "0" "30" "7" "4824020" "4824020" "subst" "0.000751388" "02326" "AP5Z1_000108" "g.4824020A>T" "" "" "" "AP5Z1(NM_014855.3):c.790+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014366" "0" "30" "7" "4827903" "4827903" "subst" "0.000597177" "02326" "AP5Z1_000050" "g.4827903A>C" "" "" "" "AP5Z1(NM_014855.3):c.1573A>C (p.K525Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030326" "1" "70" "7" "4830120" "4830123" "dup" "0" "00006" "AP5Z1_000123" "g.4830120_4830123dup" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.4790489_4790492dup" "" "likely pathogenic (recessive)" "" "0001030327" "1" "70" "7" "4830120" "4830123" "dup" "0" "00006" "AP5Z1_000123" "g.4830120_4830123dup" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.4790489_4790492dup" "" "likely pathogenic (recessive)" "" "0001030328" "1" "70" "7" "4830120" "4830123" "dup" "0" "00006" "AP5Z1_000123" "g.4830120_4830123dup" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.4790489_4790492dup" "" "likely pathogenic (recessive)" "" "0001030329" "1" "70" "7" "4827925" "4827925" "subst" "0" "00006" "AP5Z1_000122" "g.4827925G>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PM3_mod, PM4_mod" "Germline" "" "" "0" "" "" "g.4788294G>T" "" "likely pathogenic (recessive)" "" "0001030330" "3" "70" "7" "4830451" "4830451" "dup" "0" "00006" "AP5Z1_000125" "g.4830451dup" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.4790820dup" "" "likely pathogenic (recessive)" "" "0001030331" "1" "70" "7" "4825064" "4825064" "dup" "0" "00006" "AP5Z1_000118" "g.4825064dup" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785433dup" "" "likely pathogenic (recessive)" "" "0001030332" "3" "50" "7" "4827374" "4827400" "del" "0" "00006" "AP5Z1_000121" "g.4827374_4827400del" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PM4_mod" "Germline" "" "" "0" "" "" "g.4787743_4787769del" "" "VUS" "" "0001030333" "3" "70" "7" "4824676" "4824676" "subst" "2.96905E-5" "00006" "AP5Z1_000116" "g.4824676C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785045C>T" "" "likely pathogenic (recessive)" "" "0001030334" "1" "70" "7" "4824676" "4824676" "subst" "2.96905E-5" "00006" "AP5Z1_000116" "g.4824676C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785045C>T" "" "likely pathogenic (recessive)" "" "0001030335" "1" "70" "7" "4824676" "4824676" "subst" "2.96905E-5" "00006" "AP5Z1_000116" "g.4824676C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785045C>T" "" "likely pathogenic (recessive)" "" "0001030336" "1" "70" "7" "4824676" "4824676" "subst" "2.96905E-5" "00006" "AP5Z1_000116" "g.4824676C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785045C>T" "" "likely pathogenic (recessive)" "" "0001030337" "3" "70" "7" "4825307" "4825390" "del" "0" "00006" "AP5Z1_000120" "g.4825307_4825390del" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PP3_strong" "Germline" "" "" "0" "" "" "g.4785676_4785759del" "" "likely pathogenic (recessive)" "" "0001030338" "1" "70" "7" "4822992" "4822992" "subst" "1.63269E-5" "00006" "AP5Z1_000112" "g.4822992C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4783361C>T" "" "likely pathogenic (recessive)" "" "0001030339" "1" "70" "7" "4820844" "4820847" "delins" "0" "00006" "AP5Z1_000110" "g.4820844_4820847delinsTGCTGTAAACTGTAACTGTAAA" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4781213_4781216delinsTGCTGTAAACTGTAACTGTAAA" "" "likely pathogenic (recessive)" "" "0001030340" "3" "70" "7" "4824572" "4824572" "subst" "0" "00006" "AP5Z1_000114" "g.4824572C>A" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4784941C>A" "" "likely pathogenic (recessive)" "" "0001030341" "3" "70" "7" "4824605" "4824614" "del" "0" "00006" "AP5Z1_000115" "g.4824605_4824614del" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4784974_4784983del" "" "likely pathogenic (recessive)" "" "0001030342" "3" "70" "7" "4824553" "4824553" "subst" "0" "00006" "AP5Z1_000113" "g.4824553C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4784922C>T" "" "likely pathogenic (recessive)" "" "0001030348" "2" "70" "7" "4827925" "4827925" "subst" "0" "00006" "AP5Z1_000122" "g.4827925G>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PM3_mod, PM4_mod" "Germline" "" "" "0" "" "" "g.4788294G>T" "" "likely pathogenic (recessive)" "" "0001030349" "2" "70" "7" "4827925" "4827925" "subst" "0" "00006" "AP5Z1_000122" "g.4827925G>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PM3_mod, PM4_mod" "Germline" "" "" "0" "" "" "g.4788294G>T" "" "likely pathogenic (recessive)" "" "0001030350" "2" "70" "7" "4827925" "4827925" "subst" "0" "00006" "AP5Z1_000122" "g.4827925G>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PM3_mod, PM4_mod" "Germline" "" "" "0" "" "" "g.4788294G>T" "" "likely pathogenic (recessive)" "" "0001030351" "2" "70" "7" "4822992" "4822992" "subst" "1.63269E-5" "00006" "AP5Z1_000112" "g.4822992C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4783361C>T" "" "likely pathogenic (recessive)" "" "0001030352" "2" "70" "7" "4825216" "4825216" "subst" "4.89128E-5" "00006" "AP5Z1_000119" "g.4825216C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785585C>T" "" "likely pathogenic (recessive)" "" "0001030353" "2" "70" "7" "4824679" "4824679" "subst" "2.5625E-5" "00006" "AP5Z1_000117" "g.4824679C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4785048C>T" "" "likely pathogenic (recessive)" "" "0001030354" "2" "70" "7" "4808369" "4950979" "del" "0" "00006" "AP5Z1_000109" "g.4808369_4950979del" "" "{PMID:Kaminska 2025:40081374}" "" "g.4808369_4950979del" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4768738_4911348del" "" "likely pathogenic (recessive)" "" "0001030355" "2" "70" "7" "4808369" "4950979" "del" "0" "00006" "AP5Z1_000109" "g.4808369_4950979del" "" "{PMID:Kaminska 2025:40081374}" "" "g.4808369_4950979del" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.4768738_4911348del" "" "likely pathogenic (recessive)" "" "0001030356" "2" "50" "7" "4821181" "4821181" "subst" "2.95446E-5" "00006" "AP5Z1_000111" "g.4821181G>A" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PP3_supp" "Germline" "" "" "0" "" "" "g.4781550G>A" "" "VUS" "" "0001030357" "2" "70" "7" "4830136" "4830136" "dup" "0" "00006" "AP5Z1_000124" "g.4830136dup" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.4790505dup" "" "likely pathogenic (recessive)" "" "0001036425" "0" "10" "7" "4823061" "4823061" "subst" "0.0015841" "01804" "AP5Z1_000005" "g.4823061G>A" "" "" "" "AP5Z1(NM_014855.3):c.481G>A (p.V161M, p.(Val161Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036426" "0" "50" "7" "4823407" "4823409" "del" "0" "01804" "AP5Z1_000126" "g.4823407_4823409del" "" "" "" "AP5Z1(NM_014855.3):c.599_601del (p.(Phe200del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036427" "0" "50" "7" "4823951" "4823951" "subst" "0" "01804" "AP5Z1_000127" "g.4823951C>T" "" "" "" "AP5Z1(NM_014855.3):c.739C>T (p.(Arg247Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036428" "0" "10" "7" "4825945" "4825945" "subst" "0.0173342" "01804" "AP5Z1_000128" "g.4825945G>A" "" "" "" "AP5Z1(NM_014855.3):c.1197G>A (p.(Glu399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036431" "0" "10" "7" "4830971" "4830971" "subst" "0.0175119" "01804" "AP5Z1_000129" "g.4830971G>T" "" "" "" "AP5Z1(NM_014855.3):c.2379G>T (p.(Thr793=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 AP5Z1 ## Count = 163 "{{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}}" "0000254373" "00024366" "30" "1158" "0" "1158" "0" "c.1158A>G" "r.(?)" "p.(Glu386=)" "" "0000254919" "00024366" "30" "1557" "0" "1557" "0" "c.1557A>G" "r.(?)" "p.(Gln519=)" "" "0000261009" "00024366" "10" "1708" "-14" "1708" "-14" "c.1708-14C>T" "r.(=)" "p.(=)" "" "0000261010" "00024366" "30" "1708" "-5" "1708" "-5" "c.1708-5C>T" "r.spl?" "p.?" "" "0000261011" "00024366" "10" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Val700Met)" "" "0000262604" "00024366" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Met)" "" "0000262605" "00024366" "30" "1906" "0" "1906" "0" "c.1906C>G" "r.(?)" "p.(Leu636Val)" "" "0000262606" "00024366" "10" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Ala744Thr)" "" "0000262607" "00024366" "30" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Glu127Lys)" "" "0000262608" "00024366" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Gly135=)" "" "0000262609" "00024366" "10" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" "0000262610" "00024366" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Met)" "" "0000262611" "00024366" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Tyr186=)" "" "0000262612" "00024366" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Ser196=)" "" "0000262613" "00024366" "30" "791" "-5" "791" "-5" "c.791-5C>T" "r.spl?" "p.?" "" "0000262614" "00024366" "50" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Arg292Gln)" "" "0000262615" "00024366" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000338271" "00024366" "30" "791" "-6" "791" "-6" "c.791-6C>T" "r.(=)" "p.(=)" "" "0000338272" "00024366" "50" "1312" "-2" "1312" "-2" "c.1312-2A>G" "r.spl?" "p.?" "" "0000338273" "00024366" "10" "1707" "11" "1707" "11" "c.1707+11T>C" "r.(=)" "p.(=)" "" "0000338274" "00024366" "10" "1708" "-14" "1708" "-14" "c.1708-14C>T" "r.(=)" "p.(=)" "" "0000340177" "00024366" "10" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Ser253=)" "" "0000340178" "00024366" "30" "780" "0" "780" "0" "c.780C>A" "r.(?)" "p.(Thr260=)" "" "0000340179" "00024366" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(His377=)" "" "0000340180" "00024366" "10" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(Asp459=)" "" "0000340181" "00024366" "10" "1965" "0" "1965" "0" "c.1965G>A" "r.(?)" "p.(Ser655=)" "" "0000342561" "00024366" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000342719" "00024366" "50" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356Gln)" "" "0000344752" "00024366" "90" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Gln307Ter)" "" "0000347127" "00024366" "10" "1124" "0" "1124" "0" "c.1124T>A" "r.(?)" "p.(Leu375Gln)" "" "0000532165" "00024366" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Leu42=)" "" "0000532166" "00024366" "30" "281" "0" "281" "0" "c.281C>G" "r.(?)" "p.(Ser94Cys)" "" "0000532167" "00024366" "30" "333" "0" "333" "0" "c.333G>C" "r.(?)" "p.(Gln111His)" "" "0000532168" "00024366" "30" "366" "5" "366" "5" "c.366+5C>T" "r.spl?" "p.?" "" "0000532169" "00024366" "50" "607" "0" "607" "0" "c.607C>G" "r.(?)" "p.(Pro203Ala)" "" "0000532170" "00024366" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Pro210Ser)" "" "0000532171" "00024366" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" "" "0000532172" "00024366" "30" "780" "0" "780" "0" "c.780C>A" "r.(?)" "p.(Thr260=)" "" "0000532173" "00024366" "30" "825" "0" "825" "0" "c.825G>A" "r.(?)" "p.(Ser275=)" "" "0000532174" "00024366" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ala283=)" "" "0000532175" "00024366" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000532176" "00024366" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Ala297=)" "" "0000532177" "00024366" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Tyr300=)" "" "0000532178" "00024366" "50" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Ile305Thr)" "" "0000532179" "00024366" "30" "970" "-4" "970" "-4" "c.970-4G>A" "r.spl?" "p.?" "" "0000532180" "00024366" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Gly378Arg)" "" "0000532182" "00024366" "30" "1254" "0" "1254" "0" "c.1254C>G" "r.(?)" "p.(Leu418=)" "" "0000532183" "00024366" "30" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Leu420=)" "" "0000532184" "00024366" "30" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(Asn434Ser)" "" "0000532185" "00024366" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Trp441Ter)" "" "0000532186" "00024366" "30" "1365" "0" "1365" "0" "c.1365G>A" "r.(?)" "p.(Pro455=)" "" "0000532187" "00024366" "30" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Ala478=)" "" "0000532188" "00024366" "30" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000532189" "00024366" "30" "1573" "0" "1573" "0" "c.1573A>C" "r.(?)" "p.(Lys525Gln)" "" "0000532190" "00024366" "30" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(Tyr591=)" "" "0000532191" "00024366" "30" "1785" "0" "1785" "0" "c.1785G>T" "r.(?)" "p.(Gly595=)" "" "0000532192" "00024366" "50" "2101" "0" "2101" "0" "c.2101C>G" "r.(?)" "p.(Leu701Val)" "" "0000532193" "00024366" "50" "2153" "8" "2153" "8" "c.2153+8G>A" "r.(=)" "p.(=)" "" "0000532194" "00024366" "50" "2220" "0" "2220" "0" "c.2220C>T" "r.(?)" "p.(Ser740=)" "" "0000532198" "00024366" "30" "10433" "0" "10433" "0" "c.*8009C>T" "r.(=)" "p.(=)" "" "0000611122" "00024366" "50" "969" "3" "969" "6" "c.969+3_969+6dup" "r.spl?" "p.?" "" "0000611123" "00024366" "30" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Val366Leu)" "" "0000611124" "00024366" "30" "1527" "0" "1527" "0" "c.1527C>T" "r.(?)" "p.(Phe509=)" "" "0000611125" "00024366" "90" "2102" "0" "2102" "0" "c.2102T>C" "r.(?)" "p.(Leu701Pro)" "" "0000621895" "00024366" "50" "80" "0" "80" "0" "c.80G>T" "r.(?)" "p.(Arg27Leu)" "" "0000621896" "00024366" "50" "81" "0" "82" "0" "c.81_82insCTGTAAACTGTAACTGTA" "r.(?)" "p.(Arg27_Ile28insLeuTerThrValThrVal)" "" "0000621897" "00024366" "50" "83" "0" "83" "0" "c.83T>A" "r.(?)" "p.(Ile28Asn)" "" "0000621898" "00024366" "30" "366" "4" "366" "4" "c.366+4G>A" "r.spl?" "p.?" "" "0000621899" "00024366" "50" "1123" "0" "1123" "0" "c.1123C>G" "r.(?)" "p.(Leu375Val)" "" "0000621900" "00024366" "30" "1563" "0" "1563" "0" "c.1563G>A" "r.(?)" "p.(Leu521=)" "" "0000621901" "00024366" "30" "1953" "0" "1953" "0" "c.1953C>T" "r.(?)" "p.(Gly651=)" "" "0000621902" "00024366" "30" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Val763Met)" "" "0000652326" "00024366" "30" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000652327" "00024366" "30" "2802" "0" "2802" "0" "c.*378T>C" "r.(=)" "p.(=)" "" "0000655850" "00024366" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Trp)" "" "0000669982" "00024366" "30" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "0000669983" "00024366" "30" "2802" "0" "2802" "0" "c.*378T>C" "r.(=)" "p.(=)" "" "0000678120" "00024366" "30" "237" "0" "237" "0" "c.237C>T" "r.(?)" "p.(Pro79=)" "" "0000678121" "00024366" "30" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Ser491=)" "" "0000678122" "00024366" "50" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Gly631Asp)" "" "0000687740" "00024366" "50" "1181" "0" "1181" "0" "c.1181C>T" "r.(?)" "p.(Thr394Ile)" "" "0000687741" "00024366" "50" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Leu500Phe)" "" "0000690019" "00024366" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(His105Tyr)" "" "0000690020" "00024366" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Trp)" "" "0000721480" "00024366" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(His105Tyr)" "" "0000721481" "00024366" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" "" "0000721482" "00024366" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" "" "0000721483" "00024366" "30" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Glu256Lys)" "" "0000721484" "00024366" "50" "1312" "-2" "1312" "-2" "c.1312-2A>G" "r.spl?" "p.?" "" "0000721485" "00024366" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Thr447=)" "" "0000721486" "00024366" "30" "1595" "9" "1595" "9" "c.1595+9C>T" "r.(=)" "p.(=)" "" "0000721487" "00024366" "30" "1617" "0" "1617" "0" "c.1617G>C" "r.(?)" "p.(Leu539=)" "" "0000721488" "00024366" "30" "1620" "0" "1620" "0" "c.1620G>A" "r.(?)" "p.(Leu540=)" "" "0000721489" "00024366" "30" "1805" "4" "1805" "4" "c.1805+4G>C" "r.spl?" "p.?" "" "0000803172" "00024366" "30" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Ser385=)" "" "0000803173" "00024366" "50" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Ala526Thr)" "" "0000803174" "00024366" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Val646Met)" "" "0000803175" "00024366" "50" "1949" "0" "1949" "0" "c.1949T>G" "r.(?)" "p.(Ile650Ser)" "" "0000851627" "00024366" "50" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Asp43His)" "" "0000851628" "00024366" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Ala460Thr)" "" "0000851629" "00024366" "30" "2153" "7" "2153" "7" "c.2153+7G>A" "r.(=)" "p.(=)" "" "0000860846" "00024366" "50" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000860847" "00024366" "30" "1464" "0" "1464" "0" "c.1464G>A" "r.(?)" "p.(Pro488=)" "" "0000860848" "00024366" "30" "2080" "0" "2080" "0" "c.2080C>A" "r.(?)" "p.(Pro694Thr)" "" "0000860849" "00024366" "50" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Ala746Val)" "" "0000860850" "00024366" "50" "2354" "0" "2354" "0" "c.2354C>G" "r.(?)" "p.(Thr785Arg)" "" "0000887907" "00024366" "30" "780" "0" "780" "0" "c.780C>A" "r.(?)" "p.(Thr260=)" "" "0000887908" "00024366" "10" "1124" "0" "1124" "0" "c.1124T>A" "r.(?)" "p.(Leu375Gln)" "" "0000887909" "00024366" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(Ser422=)" "" "0000887910" "00024366" "30" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Ala744Thr)" "" "0000912764" "00024366" "10" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" "0000924735" "00024366" "30" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Gly123=)" "" "0000924736" "00024366" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000924737" "00024366" "30" "2328" "0" "2328" "0" "c.2328C>A" "r.(?)" "p.(Ser776Arg)" "" "0000964610" "00024366" "30" "1632" "0" "1632" "0" "c.1632C>T" "r.(?)" "p.(=)" "" "0000977746" "00024366" "30" "512" "-7" "512" "-7" "c.512-7A>G" "r.(=)" "p.(=)" "" "0000977747" "00024366" "30" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(=)" "" "0000977748" "00024366" "30" "1557" "0" "1557" "0" "c.1557A>G" "r.(?)" "p.(Gln519=)" "" "0000977749" "00024366" "30" "1563" "0" "1563" "0" "c.1563G>A" "r.(?)" "p.(Leu521=)" "" "0000977750" "00024366" "50" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Ala529Thr)" "" "0000977752" "00024366" "30" "1939" "-9" "1939" "-9" "c.1939-9C>T" "r.(=)" "p.(=)" "" "0000977753" "00024366" "30" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Val700Met)" "" "0000977754" "00024366" "30" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Thr769Ala)" "" "0000996557" "00024366" "30" "511" "4" "511" "4" "c.511+4C>T" "r.spl?" "p.?" "" "0000996558" "00024366" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000996559" "00024366" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Gly378Arg)" "" "0000996560" "00024366" "30" "1406" "0" "1406" "0" "c.1406C>A" "r.(?)" "p.(Ala469Glu)" "" "0000996561" "00024366" "30" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Ala526Thr)" "" "0000996562" "00024366" "30" "1728" "0" "1728" "0" "c.1728C>A" "r.(?)" "p.(=)" "" "0001014365" "00024366" "30" "790" "18" "790" "18" "c.790+18A>T" "r.(=)" "p.(=)" "" "0001014366" "00024366" "30" "1573" "0" "1573" "0" "c.1573A>C" "r.(?)" "p.(Lys525Gln)" "" "0001030326" "00024366" "70" "1836" "0" "1839" "0" "c.1836_1839dup" "r.(?)" "p.(Leu614TyrfsTer150)" "" "0001030327" "00024366" "70" "1836" "0" "1839" "0" "c.1836_1839dup" "r.(?)" "p.(Leu614TyrfsTer150)" "" "0001030328" "00024366" "70" "1836" "0" "1839" "0" "c.1836_1839dup" "r.(?)" "p.(Leu614TyrfsTer150)" "" "0001030329" "00024366" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Arg532Met)" "" "0001030330" "00024366" "70" "2086" "0" "2086" "0" "c.2086dup" "r.(?)" "p.(Gln696ProfsTer67)" "" "0001030331" "00024366" "70" "950" "0" "950" "0" "c.950dup" "r.(?)" "p.(Asp317GlufsTer93)" "" "0001030332" "00024366" "50" "1421" "0" "1447" "0" "c.1421_1447del" "r.(?)" "p.(Pro474_Leu482del)" "" "0001030333" "00024366" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Ter)" "" "0001030334" "00024366" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Ter)" "" "0001030335" "00024366" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Ter)" "" "0001030336" "00024366" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Ter)" "" "0001030337" "00024366" "70" "1124" "0" "1132" "75" "c.1124_1132+75del" "r.spl" "p.(Ala323GlyfsTer52)" "" "0001030338" "00024366" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Ter)" "" "0001030339" "00024366" "70" "80" "0" "83" "0" "c.80_83delinsTGCTGTAAACTGTAACTGTAAA" "r.(?)" "p.(Arg27delinsLeuLeuTer)" "" "0001030340" "00024366" "50" "824" "0" "824" "0" "c.824C>A" "r.(?)" "p.(Ser275Ter)" "" "0001030341" "00024366" "70" "857" "0" "866" "0" "c.857_866del" "r.(?)" "p.(Leu286ProfsTer25)" "" "0001030342" "00024366" "70" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Gln269Ter)" "" "0001030348" "00024366" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.1455_1593del" "p.Ser486_Arg532del" "" "0001030349" "00024366" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.(1455_1593del)" "p.(Ser486_Arg532del)" "" "0001030350" "00024366" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.(1455_1593del)" "p.(Ser486_Arg532del)" "" "0001030351" "00024366" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Ter)" "" "0001030352" "00024366" "70" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345Ter)" "" "0001030353" "00024366" "70" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Ter)" "" "0001030354" "00024366" "70" "" "0" "" "0" "c.-6978_*119963del" "r.0" "p.0" "" "0001030355" "00024366" "70" "" "0" "" "0" "c.-6978_*119963del" "r.0" "p.0" "" "0001030356" "00024366" "50" "180" "-18" "180" "-18" "c.180-18G>A" "r.spl" "p.(Arg60HisfsTer41)" "" "0001030357" "00024366" "70" "1852" "0" "1852" "0" "c.1852dup" "r.(?)" "p.(Leu618ProfsTer145)" "" "0001036425" "00024366" "10" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Met)" "" "0001036426" "00024366" "50" "599" "0" "601" "0" "c.599_601del" "r.(?)" "p.(Phe200del)" "" "0001036427" "00024366" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Trp)" "" "0001036428" "00024366" "10" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(=)" "" "0001036431" "00024366" "10" "2379" "0" "2379" "0" "c.2379G>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000295637" "0000652326" "0000295638" "0000652327" "0000306294" "0000669982" "0000306295" "0000669983" "0000312187" "0000687740" "0000312187" "0000687741" "0000466357" "0001030326" "0000466357" "0001030348" "0000466358" "0001030327" "0000466358" "0001030349" "0000466359" "0001030328" "0000466359" "0001030350" "0000466360" "0001030329" "0000466360" "0001030351" "0000466361" "0001030330" "0000466362" "0001030331" "0000466362" "0001030352" "0000466363" "0001030332" "0000466364" "0001030333" "0000466365" "0001030334" "0000466365" "0001030353" "0000466366" "0001030335" "0000466366" "0001030354" "0000466367" "0001030336" "0000466367" "0001030355" "0000466368" "0001030337" "0000466369" "0001030338" "0000466369" "0001030356" "0000466370" "0001030339" "0000466370" "0001030357" "0000466371" "0001030340" "0000466372" "0001030341" "0000466373" "0001030342"