### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP3B1) # 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}}" "AP3B1" "adaptor-related protein complex 3, beta 1 subunit" "5" "q14.1" "unknown" "NC_000005.9" "UD_132084535501" "" "http://www.LOVD.nl/AP3B1" "Albinism Database \r\nAP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2 \r\nMutations of the Adaptin b3a Gene " "1" "566" "8546" "603401" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/AP3B1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-12-06 22:05:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00002637" "AP3B1" "adaptor-related protein complex 3, beta 1 subunit" "001" "NM_003664.3" "" "NP_003655.3" "" "" "" "-125" "3861" "3285" "77590528" "77298150" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00469" "HPS" "Hermansky-Pudlak syndrome" "" "" "" "" "" "00006" "2014-07-23 09:19:23" "00006" "2022-01-25 17:51:50" "00483" "HPS2" "Hermansky-Pudlak syndrome, type 2 (HPS-2)" "AR" "608233" "" "" "" "00006" "2014-07-24 22:46:50" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AP3B1" "00483" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00019486" "" "" "" "2" "" "00755" "" "family, 2 affecteds" "" "" "Netherlands" "" "0" "" "" "white" "" "00019487" "" "" "" "1" "" "00755" "" "" "" "" "" "" "0" "" "" "" "" "00019488" "" "" "" "1" "" "00755" "" "" "" "" "United States" "" "0" "" "" "American, native, Houma Indian" "" "00019489" "" "" "" "1" "" "00755" "{PMID:Kotzot 1994:8042664}" "" "" "" "Turkey" "" "0" "" "" "" "" "00019490" "" "" "" "1" "" "00755" "" "" "" "" "" "" "0" "" "" "" "" "00293909" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00334477" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334903" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335008" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335011" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00019486" "00469" "00019487" "00469" "00019488" "00469" "00019489" "00469" "00019490" "00469" "00293909" "00198" "00299641" "04214" "00334477" "05793" "00334903" "05793" "00335008" "05793" "00335011" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00469, 00483, 04214, 05793 ## Count = 10 "{{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}}" "0000017287" "00469" "00019486" "00755" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017288" "00469" "00019487" "00755" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017289" "00469" "00019488" "00755" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017290" "00469" "00019489" "00755" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017291" "00469" "00019490" "00755" "Unknown" "" "lethal hemophagocytic lymphohistiocytosis" "" "" "" "" "" "" "" "" "" "" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000253190" "05793" "00334477" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253272" "05793" "00334903" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253290" "05793" "00335008" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253293" "05793" "00335011" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019471" "00019486" "1" "00755" "00006" "2011-10-18 20:29:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000019472" "00019487" "1" "00755" "00006" "2011-10-18 20:29:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000019473" "00019488" "1" "00755" "00006" "2011-10-18 20:29:06" "" "" "SEQ" "DNA" "" "" "0000019474" "00019489" "1" "00755" "00006" "2011-10-18 20:29:06" "" "" "SEQ" "DNA" "" "" "0000019475" "00019490" "1" "00755" "00006" "2011-10-18 20:29:06" "" "" "SEQ" "DNA" "" "" "0000295077" "00293909" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000335706" "00334477" "1" "04011" "04011" "2021-03-01 02:49:24" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336132" "00334903" "1" "04011" "04011" "2021-03-02 12:26:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336237" "00335008" "1" "04011" "04011" "2021-03-03 01:42:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336240" "00335011" "1" "04011" "04011" "2021-03-03 01:54:45" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000019471" "AP3B1" "0000019472" "AP3B1" "0000019473" "AP3B1" "0000019474" "AP3B1" "0000019475" "AP3B1" "0000300751" "ARHGEF18" ## 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 = 126 "{{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}}" "0000039717" "1" "90" "5" "77461434" "77461496" "del" "0" "00755" "AP3B1_000001" "g.77461434_77461496del" "" "{PMID:Dell\'Angelica 1999:10024875}, {OMIM603401:0001}" "" "1165del63" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000039718" "1" "90" "5" "77437000" "77437000" "dup" "0" "00755" "AP3B1_000003" "g.77437000dup" "" "{PMID:Clark 2003:14566336}, {OMIM603401:0003}" "" "1618insG" "" "Unknown" "" "" "0" "" "" "g.78141176dup" "" "pathogenic" "" "0000039719" "1" "90" "5" "77437092" "77437092" "subst" "0" "00755" "AP3B1_000006" "g.77437092G>A" "" "{PMID:Huizing 2002:11809908}, {OMIM603401:0007}" "" "1578C>T" "" "Unknown" "" "" "0" "" "" "g.78141268G>A" "" "pathogenic" "" "0000039720" "1" "90" "5" "77436046" "77444217" "del" "0" "00755" "AP3B1_000005" "g.77436046_77444217del" "" "{PMID:Jung 2006:16537806}, {OMIM603401:0005}" "" "del ex15" "deletion 8168 bp" "Unknown" "" "" "0" "" "" "g.78140222_78148393del" "" "pathogenic" "" "0000039721" "1" "90" "5" "77477369" "77477369" "subst" "0" "00755" "AP3B1_000008" "g.77477369T>A" "" "{PMID:Enders 2006:16551969}" "" "1029A>T" "" "Unknown" "" "" "0" "" "" "g.78181545T>A" "" "pathogenic" "" "0000039742" "2" "90" "5" "77425043" "77425043" "subst" "0" "00755" "AP3B1_000002" "g.77425043A>C" "" "{PMID:Dell\'Angelica 1999:10024875}, {OMIM603401:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.78129219A>C" "" "pathogenic" "" "0000039743" "2" "90" "5" "77452076" "77452076" "subst" "0" "00755" "AP3B1_000004" "g.77452076A>G" "" "{PMID:Clark 2003:14566336}, {OMIM603401:0004}" "" "" "" "Unknown" "" "" "0" "" "" "g.78156252A>G" "" "pathogenic" "" "0000039744" "2" "90" "5" "77412052" "77412052" "subst" "0" "00755" "AP3B1_000007" "g.77412052C>A" "" "{PMID:Huizing 2002:11809908}, {OMIM603401:0008}" "" "2028G>T" "" "Unknown" "" "" "0" "" "" "g.78116228C>A" "" "pathogenic" "" "0000039745" "2" "90" "5" "77436046" "77444217" "del" "0" "00755" "AP3B1_000005" "g.77436046_77444217del" "" "{PMID:Jung 2006:16537806}, {OMIM603401:0005}" "" "del ex15" "deletion 8168 bp" "Unknown" "" "" "0" "" "" "g.78140222_78148393del" "" "pathogenic" "" "0000039746" "2" "90" "5" "77477369" "77477369" "subst" "0" "00755" "AP3B1_000008" "g.77477369T>A" "" "{PMID:Enders 2006:16551969}" "" "1029A>T" "" "Unknown" "" "" "0" "" "" "g.78181545T>A" "" "pathogenic" "" "0000246304" "0" "10" "5" "77458689" "77458689" "subst" "0.00464099" "02330" "AP3B1_000025" "g.77458689A>C" "" "" "" "AP3B1(NM_001271769.1):c.1170T>G (p.T390=, p.(Thr390=)), AP3B1(NM_001271769.2):c.1170T>G (p.T390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78162865A>C" "" "benign" "" "0000246310" "0" "10" "5" "77423965" "77423965" "subst" "0.00213479" "02330" "AP3B1_000043" "g.77423965A>C" "" "" "" "AP3B1(NM_001271769.1):c.1710T>G (p.L570=), AP3B1(NM_001271769.2):c.1710T>G (p.L570=), AP3B1(NM_003664.4):c.1857T>G (p.L619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78128141A>C" "" "benign" "" "0000246336" "0" "10" "5" "77396823" "77396823" "subst" "7.80133E-5" "02330" "AP3B1_000037" "g.77396823A>G" "" "" "" "AP3B1(NM_001271769.2):c.2277T>C (p.D759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78100999A>G" "" "benign" "" "0000246369" "0" "10" "5" "77473154" "77473154" "subst" "0.000565929" "02330" "AP3B1_000027" "g.77473154A>T" "" "" "" "AP3B1(NM_001271769.1):c.893+9T>A, AP3B1(NM_001271769.2):c.893+9T>A, AP3B1(NM_003664.4):c.1040+9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78177330A>T" "" "benign" "" "0000248558" "0" "10" "5" "77412011" "77412011" "subst" "0.212621" "02325" "AP3B1_000042" "g.77412011A>G" "" "" "" "AP3B1(NM_001271769.2):c.1869T>C (p.A623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78116187A>G" "" "benign" "" "0000248559" "0" "10" "5" "77473165" "77473165" "subst" "0.193454" "02325" "AP3B1_000028" "g.77473165A>G" "" "" "" "AP3B1(NM_001271769.2):c.891T>C (p.N297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78177341A>G" "" "benign" "" "0000248942" "0" "10" "5" "77425028" "77425028" "subst" "0.861999" "02325" "AP3B1_000024" "g.77425028A>T" "" "" "" "AP3B1(NM_001271769.2):c.1607T>A (p.V536E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78129204A>T" "" "benign" "" "0000250956" "0" "10" "5" "77423965" "77423965" "subst" "0.00213479" "02326" "AP3B1_000043" "g.77423965A>C" "" "" "" "AP3B1(NM_001271769.1):c.1710T>G (p.L570=), AP3B1(NM_001271769.2):c.1710T>G (p.L570=), AP3B1(NM_003664.4):c.1857T>G (p.L619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78128141A>C" "" "benign" "" "0000253577" "0" "10" "5" "77406104" "77406104" "subst" "0.00165412" "01943" "AP3B1_000021" "g.77406104A>T" "" "" "" "AP3B1(NM_001271769.1):c.2177T>A (p.I726K), AP3B1(NM_003664.4):c.2324T>A (p.I775K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78110280A>T" "" "benign" "" "0000254134" "0" "30" "5" "77458689" "77458689" "subst" "0.00464099" "01943" "AP3B1_000025" "g.77458689A>C" "" "" "" "AP3B1(NM_001271769.1):c.1170T>G (p.T390=, p.(Thr390=)), AP3B1(NM_001271769.2):c.1170T>G (p.T390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78162865A>C" "" "likely benign" "" "0000256512" "0" "50" "5" "77411998" "77411998" "subst" "0" "01943" "AP3B1_000023" "g.77411998A>G" "" "" "" "AP3B1(NM_001271769.1):c.1882T>C (p.S628P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78116174A>G" "" "VUS" "" "0000257893" "0" "10" "5" "77536670" "77536670" "subst" "0.000362623" "02330" "AP3B1_000033" "g.77536670T>C" "" "" "" "AP3B1(NM_001271769.2):c.132+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78240846T>C" "" "benign" "" "0000257894" "0" "10" "5" "77406088" "77406088" "subst" "5.02336E-5" "02330" "AP3B1_000040" "g.77406088G>A" "" "" "" "AP3B1(NM_001271769.2):c.2193C>T (p.S731=), AP3B1(NM_003664.4):c.2340C>T (p.S780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78110264G>A" "" "benign" "" "0000257895" "0" "10" "5" "77396767" "77396767" "subst" "0" "02330" "AP3B1_000018" "g.77396767C>G" "" "" "" "AP3B1(NM_001271769.2):c.2323+10G>C, AP3B1(NM_003664.4):c.2470+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78100943C>G" "" "benign" "" "0000257896" "0" "10" "5" "77335091" "77335091" "subst" "0.00133641" "02330" "AP3B1_000017" "g.77335091G>A" "" "" "" "AP3B1(NM_001271769.2):c.2438C>T (p.T813I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78039267G>A" "" "benign" "" "0000257897" "0" "10" "5" "77335063" "77335063" "subst" "0.00402076" "02330" "AP3B1_000016" "g.77335063G>A" "" "" "" "AP3B1(NM_001271769.1):c.2466C>T (p.H822=), AP3B1(NM_001271769.2):c.2466C>T (p.H822=), AP3B1(NM_003664.4):c.2613C>T (p.H871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78039239G>A" "" "benign" "" "0000257898" "0" "30" "5" "77335050" "77335050" "subst" "1.21839E-5" "02330" "AP3B1_000015" "g.77335050G>T" "" "" "" "AP3B1(NM_001271769.2):c.2479C>A (p.R827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78039226G>T" "" "likely benign" "" "0000257899" "0" "10" "5" "77330199" "77330199" "subst" "0.00485153" "02330" "AP3B1_000012" "g.77330199G>A" "" "" "" "AP3B1(NM_001271769.2):c.2733C>T (p.A911=), AP3B1(NM_003664.4):c.2880C>T (p.A960=), AP3B1(NM_003664.5):c.2880C>T (p.(Ala960=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78034375G>A" "" "benign" "" "0000257900" "0" "50" "5" "77311229" "77311229" "subst" "0.000377757" "02330" "AP3B1_000010" "g.77311229C>A" "" "" "" "AP3B1(NM_001271769.1):c.2984+5G>T, AP3B1(NM_001271769.2):c.2984+5G>T, AP3B1(NM_003664.4):c.3131+5G>T, AP3B1(NM_003664.5):c.3131+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78015405C>A" "" "VUS" "" "0000257901" "0" "90" "5" "77563373" "77563373" "del" "0" "02330" "AP3B1_000034" "g.77563373del" "" "" "" "AP3B1(NM_001271769.1):c.30delA (p.(Lys10AsnfsTer5)), AP3B1(NM_001271769.2):c.30delA (p.K10Nfs*5), AP3B1(NM_003664.5):c.177delA (p.K59Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267549del" "" "pathogenic" "" "0000257902" "0" "50" "5" "77298757" "77298757" "subst" "2.43659E-5" "02330" "AP3B1_000009" "g.77298757C>T" "" "" "" "AP3B1(NM_001271769.2):c.3107G>A (p.R1036Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78002933C>T" "" "VUS" "" "0000257903" "0" "10" "5" "77477406" "77477406" "subst" "0" "02330" "AP3B1_000045" "g.77477406C>T" "" "" "" "AP3B1(NM_001271769.2):c.720G>A (p.K240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78181582C>T" "" "benign" "" "0000257904" "0" "50" "5" "77473181" "77473181" "subst" "0.000223472" "02330" "AP3B1_000044" "g.77473181C>T" "" "" "" "AP3B1(NM_001271769.1):c.875G>A (p.R292H), AP3B1(NM_001271769.2):c.875G>A (p.R292H), AP3B1(NM_003664.5):c.1022G>A (p.(Arg341His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78177357C>T" "" "VUS" "" "0000257905" "0" "30" "5" "77471634" "77471634" "subst" "0.0016759" "02330" "AP3B1_000026" "g.77471634T>C" "" "" "" "AP3B1(NM_001271769.1):c.922A>G (p.I308V), AP3B1(NM_001271769.2):c.922A>G (p.I308V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78175810T>C" "" "likely benign" "" "0000259505" "0" "30" "5" "77335015" "77335015" "subst" "0.00770405" "02325" "AP3B1_000014" "g.77335015G>T" "" "" "" "AP3B1(NM_001271769.2):c.2514C>A (p.F838L), AP3B1(NM_003664.4):c.2661C>A (p.F887L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78039191G>T" "" "likely benign" "" "0000261000" "0" "10" "5" "77409850" "77409850" "subst" "0" "02326" "AP3B1_000022" "g.77409850T>C" "" "" "" "AP3B1(NM_003664.4):c.2078-103A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78114026T>C" "" "benign" "" "0000261001" "0" "30" "5" "77397067" "77397067" "subst" "0" "02326" "AP3B1_000020" "g.77397067G>A" "" "" "" "AP3B1(NM_003664.4):c.2398-218C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78101243G>A" "" "likely benign" "" "0000261002" "0" "10" "5" "77396838" "77396840" "del" "0" "02326" "AP3B1_000038" "g.77396838_77396840del" "" "" "" "AP3B1(NM_003664.4):c.2409_2411delGAA (p.K804del), AP3B1(NM_003664.5):c.2409_2411del (p.(Lys804del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78101014_78101016del" "" "benign" "" "0000261003" "0" "10" "5" "77335015" "77335015" "subst" "0.00770405" "02326" "AP3B1_000014" "g.77335015G>T" "" "" "" "AP3B1(NM_001271769.2):c.2514C>A (p.F838L), AP3B1(NM_003664.4):c.2661C>A (p.F887L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78039191G>T" "" "benign" "" "0000261005" "0" "30" "5" "77524077" "77524077" "dup" "0" "02326" "AP3B1_000032" "g.77524077dup" "" "" "" "AP3B1(NM_003664.4):c.280-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78228253dup" "" "likely benign" "" "0000261006" "0" "10" "5" "77330273" "77330273" "subst" "0.00246672" "02326" "AP3B1_000013" "g.77330273G>A" "" "" "" "AP3B1(NM_003664.4):c.2810-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78034449G>A" "" "benign" "" "0000261007" "0" "10" "5" "77311343" "77311345" "del" "0" "02326" "AP3B1_000011" "g.77311343_77311345del" "" "" "" "AP3B1(NM_003664.4):c.3023_3025delCTG (p.A1008del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78015519_78015521del" "" "benign" "" "0000262553" "0" "50" "5" "77409637" "77409637" "subst" "0.00049145" "01943" "AP3B1_000041" "g.77409637G>A" "" "" "" "AP3B1(NM_001271769.1):c.2041C>T (p.R681W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78113813G>A" "" "VUS" "" "0000262554" "0" "50" "5" "77406083" "77406083" "subst" "0.000264042" "01943" "AP3B1_000039" "g.77406083G>A" "" "" "" "AP3B1(NM_001271769.1):c.2198C>T (p.S733F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78110259G>A" "" "VUS" "" "0000262555" "0" "50" "5" "77590372" "77590372" "subst" "3.25018E-5" "01943" "AP3B1_000035" "g.77590372T>C" "" "" "" "AP3B1(NM_003664.4):c.32A>G (p.Q11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78294548T>C" "" "VUS" "" "0000262556" "0" "30" "5" "77477331" "77477331" "subst" "0.00188105" "01943" "AP3B1_000029" "g.77477331C>T" "" "" "" "AP3B1(NM_001271769.1):c.795G>A (p.A265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78181507C>T" "" "likely benign" "" "0000262557" "0" "30" "5" "77471634" "77471634" "subst" "0.0016759" "01943" "AP3B1_000026" "g.77471634T>C" "" "" "" "AP3B1(NM_001271769.1):c.922A>G (p.I308V), AP3B1(NM_001271769.2):c.922A>G (p.I308V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78175810T>C" "" "likely benign" "" "0000330437" "0" "30" "5" "77452188" "77452188" "subst" "0.000671934" "01804" "AP3B1_000055" "g.77452188A>G" "" "" "" "AP3B1(NM_001271769.1):c.1220T>C (p.I407T, p.(Ile407Thr)), AP3B1(NM_003664.4):c.1367T>C (p.I456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78156364A>G" "" "likely benign" "" "0000330438" "0" "50" "5" "77523970" "77523970" "subst" "0" "01804" "AP3B1_000030" "g.77523970T>G" "" "" "" "AP3B1(NM_001271769.1):c.226A>C (p.(Lys76Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78228146T>G" "" "VUS" "" "0000330439" "0" "50" "5" "77563373" "77563373" "del" "0" "01804" "AP3B1_000034" "g.77563373del" "" "" "" "AP3B1(NM_001271769.1):c.30delA (p.(Lys10AsnfsTer5)), AP3B1(NM_001271769.2):c.30delA (p.K10Nfs*5), AP3B1(NM_003664.5):c.177delA (p.K59Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267549del" "" "VUS" "" "0000526041" "0" "30" "5" "77298804" "77298804" "subst" "0.000544273" "02326" "AP3B1_000046" "g.77298804C>T" "" "" "" "AP3B1(NM_001271769.1):c.3060G>A (p.Q1020=), AP3B1(NM_003664.4):c.3207G>A (p.Q1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78002980C>T" "" "likely benign" "" "0000526042" "0" "50" "5" "77311229" "77311229" "subst" "0.000377757" "01943" "AP3B1_000010" "g.77311229C>A" "" "" "" "AP3B1(NM_001271769.1):c.2984+5G>T, AP3B1(NM_001271769.2):c.2984+5G>T, AP3B1(NM_003664.4):c.3131+5G>T, AP3B1(NM_003664.5):c.3131+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78015405C>A" "" "VUS" "" "0000526043" "0" "30" "5" "77311370" "77311370" "subst" "0.00413757" "01943" "AP3B1_000047" "g.77311370C>T" "" "" "" "AP3B1(NM_001271769.1):c.2848G>A (p.V950M), AP3B1(NM_003664.4):c.2995G>A (p.V999M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78015546C>T" "" "likely benign" "" "0000526044" "0" "30" "5" "77316593" "77316593" "subst" "0.000807313" "01943" "AP3B1_000048" "g.77316593T>C" "" "" "" "AP3B1(NM_001271769.1):c.2768A>G (p.N923S), AP3B1(NM_003664.4):c.2915A>G (p.N972S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78020769T>C" "" "likely benign" "" "0000526045" "0" "30" "5" "77330199" "77330199" "subst" "0.00485153" "01943" "AP3B1_000012" "g.77330199G>A" "" "" "" "AP3B1(NM_001271769.2):c.2733C>T (p.A911=), AP3B1(NM_003664.4):c.2880C>T (p.A960=), AP3B1(NM_003664.5):c.2880C>T (p.(Ala960=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78034375G>A" "" "likely benign" "" "0000526046" "0" "10" "5" "77334946" "77334946" "subst" "0.00208823" "02330" "AP3B1_000049" "g.77334946A>G" "" "" "" "AP3B1(NM_001271769.1):c.2583T>C (p.T861=), AP3B1(NM_001271769.2):c.2583T>C (p.T861=), AP3B1(NM_003664.4):c.2730T>C (p.T910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78039122A>G" "" "benign" "" "0000526047" "0" "30" "5" "77334946" "77334946" "subst" "0.00208823" "01943" "AP3B1_000049" "g.77334946A>G" "" "" "" "AP3B1(NM_001271769.1):c.2583T>C (p.T861=), AP3B1(NM_001271769.2):c.2583T>C (p.T861=), AP3B1(NM_003664.4):c.2730T>C (p.T910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78039122A>G" "" "likely benign" "" "0000526048" "0" "10" "5" "77334946" "77334946" "subst" "0.00208823" "02326" "AP3B1_000049" "g.77334946A>G" "" "" "" "AP3B1(NM_001271769.1):c.2583T>C (p.T861=), AP3B1(NM_001271769.2):c.2583T>C (p.T861=), AP3B1(NM_003664.4):c.2730T>C (p.T910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78039122A>G" "" "benign" "" "0000526049" "0" "30" "5" "77335063" "77335063" "subst" "0.00402076" "02326" "AP3B1_000016" "g.77335063G>A" "" "" "" "AP3B1(NM_001271769.1):c.2466C>T (p.H822=), AP3B1(NM_001271769.2):c.2466C>T (p.H822=), AP3B1(NM_003664.4):c.2613C>T (p.H871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78039239G>A" "" "likely benign" "" "0000526050" "0" "30" "5" "77385214" "77385214" "subst" "0" "01943" "AP3B1_000050" "g.77385214T>C" "" "" "" "AP3B1(NM_001271769.1):c.2430+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78089390T>C" "" "likely benign" "" "0000526051" "0" "30" "5" "77396767" "77396767" "subst" "0" "01943" "AP3B1_000018" "g.77396767C>G" "" "" "" "AP3B1(NM_001271769.2):c.2323+10G>C, AP3B1(NM_003664.4):c.2470+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78100943C>G" "" "likely benign" "" "0000526052" "0" "30" "5" "77396838" "77396840" "del" "0" "01804" "AP3B1_000038" "g.77396838_77396840del" "" "" "" "AP3B1(NM_003664.4):c.2409_2411delGAA (p.K804del), AP3B1(NM_003664.5):c.2409_2411del (p.(Lys804del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78101014_78101016del" "" "likely benign" "" "0000526053" "0" "50" "5" "77406117" "77406117" "subst" "8.33319E-6" "01943" "AP3B1_000051" "g.77406117C>T" "" "" "" "AP3B1(NM_001271769.1):c.2164G>A (p.E722K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78110293C>T" "" "VUS" "" "0000526054" "0" "30" "5" "77424003" "77424003" "subst" "0.00076177" "02326" "AP3B1_000053" "g.77424003A>C" "" "" "" "AP3B1(NM_003664.4):c.1838-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78128179A>C" "" "likely benign" "" "0000526055" "0" "30" "5" "77452134" "77452134" "subst" "1.21988E-5" "01804" "AP3B1_000054" "g.77452134G>A" "" "" "" "AP3B1(NM_001271769.1):c.1274C>T (p.(Ala425Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78156310G>A" "" "likely benign" "" "0000526056" "0" "30" "5" "77452188" "77452188" "subst" "0.000671934" "01943" "AP3B1_000055" "g.77452188A>G" "" "" "" "AP3B1(NM_001271769.1):c.1220T>C (p.I407T, p.(Ile407Thr)), AP3B1(NM_003664.4):c.1367T>C (p.I456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78156364A>G" "" "likely benign" "" "0000526057" "0" "30" "5" "77461428" "77461428" "subst" "0" "01804" "AP3B1_000056" "g.77461428A>C" "" "" "" "AP3B1(NM_001271769.1):c.1083+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78165604A>C" "" "likely benign" "" "0000526058" "0" "50" "5" "77461466" "77461466" "subst" "0.000800617" "01943" "AP3B1_000057" "g.77461466C>G" "" "" "" "AP3B1(NM_001271769.1):c.1051G>C (p.A351P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78165642C>G" "" "VUS" "" "0000526059" "0" "30" "5" "77461480" "77461480" "subst" "0.000108858" "01943" "AP3B1_000058" "g.77461480T>C" "" "" "" "AP3B1(NM_001271769.1):c.1037A>G (p.(Asn346Ser)), AP3B1(NM_003664.4):c.1184A>G (p.N395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78165656T>C" "" "likely benign" "" "0000526060" "0" "50" "5" "77473181" "77473181" "subst" "0.000223472" "01804" "AP3B1_000044" "g.77473181C>T" "" "" "" "AP3B1(NM_001271769.1):c.875G>A (p.R292H), AP3B1(NM_001271769.2):c.875G>A (p.R292H), AP3B1(NM_003664.5):c.1022G>A (p.(Arg341His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78177357C>T" "" "VUS" "" "0000526061" "0" "50" "5" "77477314" "77477314" "subst" "9.42136E-5" "02330" "AP3B1_000059" "g.77477314T>C" "" "" "" "AP3B1(NM_001271769.2):c.795+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78181490T>C" "" "VUS" "" "0000526062" "0" "30" "5" "77477426" "77477426" "subst" "4.08467E-6" "01804" "AP3B1_000060" "g.77477426T>G" "" "" "" "AP3B1(NM_001271769.1):c.700A>C (p.(Lys234Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78181602T>G" "" "likely benign" "" "0000526063" "0" "30" "5" "77523237" "77523237" "subst" "4.06878E-6" "01943" "AP3B1_000061" "g.77523237A>G" "" "" "" "AP3B1(NM_001271769.1):c.348T>C (p.Y116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78227413A>G" "" "likely benign" "" "0000526064" "0" "30" "5" "77524066" "77524066" "dup" "0" "02326" "AP3B1_000062" "g.77524066dup" "" "" "" "AP3B1(NM_003664.4):c.280-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78228242dup" "" "likely benign" "" "0000526066" "0" "30" "5" "77536773" "77536773" "subst" "4.07488E-6" "02326" "AP3B1_000063" "g.77536773C>T" "" "" "" "AP3B1(NM_003664.4):c.205-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78240949C>T" "" "likely benign" "" "0000526070" "0" "30" "5" "77590296" "77590296" "subst" "0" "01943" "AP3B1_000064" "g.77590296G>A" "" "" "" "AP3B1(NM_003664.4):c.108C>T (p.L36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78294472G>A" "" "likely benign" "" "0000609793" "0" "30" "5" "77335063" "77335063" "subst" "0.00402076" "01943" "AP3B1_000016" "g.77335063G>A" "" "" "" "AP3B1(NM_001271769.1):c.2466C>T (p.H822=), AP3B1(NM_001271769.2):c.2466C>T (p.H822=), AP3B1(NM_003664.4):c.2613C>T (p.H871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78039239G>A" "" "likely benign" "" "0000609794" "0" "30" "5" "77423965" "77423965" "subst" "0.00213479" "01943" "AP3B1_000043" "g.77423965A>C" "" "" "" "AP3B1(NM_001271769.1):c.1710T>G (p.L570=), AP3B1(NM_001271769.2):c.1710T>G (p.L570=), AP3B1(NM_003664.4):c.1857T>G (p.L619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78128141A>C" "" "likely benign" "" "0000609795" "0" "30" "5" "77458689" "77458689" "subst" "0.00464099" "01804" "AP3B1_000025" "g.77458689A>C" "" "" "" "AP3B1(NM_001271769.1):c.1170T>G (p.T390=, p.(Thr390=)), AP3B1(NM_001271769.2):c.1170T>G (p.T390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78162865A>C" "" "likely benign" "" "0000609796" "0" "30" "5" "77512017" "77512017" "subst" "7.72358E-5" "01943" "AP3B1_000067" "g.77512017C>T" "" "" "" "AP3B1(NM_001271769.1):c.501G>A (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78216193C>T" "" "likely benign" "" "0000609797" "0" "30" "5" "77523344" "77523344" "subst" "2.03386E-5" "01943" "AP3B1_000068" "g.77523344G>A" "" "" "" "AP3B1(NM_001271769.1):c.241C>T (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78227520G>A" "" "likely benign" "" "0000621589" "0" "30" "5" "77406118" "77406118" "subst" "0.000229159" "02330" "AP3B1_000065" "g.77406118G>A" "" "" "" "AP3B1(NM_001271769.2):c.2163C>T (p.D721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78110294G>A" "" "likely benign" "" "0000621590" "0" "30" "5" "77477451" "77477451" "subst" "0.000343817" "01943" "AP3B1_000066" "g.77477451G>A" "" "" "" "AP3B1(NM_001271769.1):c.675C>T (p.Y225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78181627G>A" "" "likely benign" "" "0000621591" "0" "50" "5" "77536723" "77536723" "subst" "4.06904E-6" "01943" "AP3B1_000069" "g.77536723G>A" "" "" "" "AP3B1(NM_001271769.1):c.95C>T (p.P32L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78240899G>A" "" "VUS" "" "0000651766" "1" "50" "5" "77473181" "77473181" "subst" "0.000223472" "03575" "AP3B1_000044" "g.77473181C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141832130}" "Germline" "" "rs141832130" "0" "" "" "g.78177357C>T" "" "VUS" "" "0000655412" "0" "30" "5" "77298804" "77298804" "subst" "0.000544273" "01943" "AP3B1_000046" "g.77298804C>T" "" "" "" "AP3B1(NM_001271769.1):c.3060G>A (p.Q1020=), AP3B1(NM_003664.4):c.3207G>A (p.Q1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78002980C>T" "" "likely benign" "" "0000655413" "0" "30" "5" "77471434" "77471434" "dup" "0" "02326" "AP3B1_000070" "g.77471434dup" "" "" "" "AP3B1(NM_003664.4):c.1167+20dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78175610dup" "" "likely benign" "" "0000655414" "0" "30" "5" "77473154" "77473154" "subst" "0.000565929" "01943" "AP3B1_000027" "g.77473154A>T" "" "" "" "AP3B1(NM_001271769.1):c.893+9T>A, AP3B1(NM_001271769.2):c.893+9T>A, AP3B1(NM_003664.4):c.1040+9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78177330A>T" "" "likely benign" "" "0000663615" "1" "50" "5" "77311370" "77311370" "subst" "0.00413757" "00006" "AP3B1_000047" "g.77311370C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.78015546C>T" "" "VUS" "" "0000663616" "2" "50" "5" "77461466" "77461466" "subst" "0.000800617" "00006" "AP3B1_000057" "g.77461466C>G" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.78165642C>G" "" "VUS" "" "0000677550" "0" "30" "5" "77406088" "77406088" "subst" "5.02336E-5" "02326" "AP3B1_000040" "g.77406088G>A" "" "" "" "AP3B1(NM_001271769.2):c.2193C>T (p.S731=), AP3B1(NM_003664.4):c.2340C>T (p.S780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677551" "0" "50" "5" "77437028" "77437028" "subst" "6.50369E-5" "01943" "AP3B1_000071" "g.77437028T>C" "" "" "" "AP3B1(NM_001271769.1):c.1442A>G (p.D481G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689547" "0" "70" "5" "77330263" "77330263" "subst" "0" "02325" "AP3B1_000072" "g.77330263A>G" "" "" "" "AP3B1(NM_003664.5):c.2816T>C (p.L939P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689548" "0" "50" "5" "77412020" "77412020" "subst" "1.21934E-5" "01943" "AP3B1_000073" "g.77412020C>A" "" "" "" "AP3B1(NM_001271769.1):c.1860G>T (p.E620D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689549" "0" "50" "5" "77437122" "77437122" "subst" "1.22051E-5" "01943" "AP3B1_000074" "g.77437122T>C" "" "" "" "AP3B1(NM_001271769.1):c.1348A>G (p.I450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689550" "0" "30" "5" "77471634" "77471634" "subst" "0.0016759" "02326" "AP3B1_000026" "g.77471634T>C" "" "" "" "AP3B1(NM_001271769.1):c.922A>G (p.I308V), AP3B1(NM_001271769.2):c.922A>G (p.I308V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689551" "0" "90" "5" "77563373" "77563373" "del" "0" "02325" "AP3B1_000034" "g.77563373del" "" "" "" "AP3B1(NM_001271769.1):c.30delA (p.(Lys10AsnfsTer5)), AP3B1(NM_001271769.2):c.30delA (p.K10Nfs*5), AP3B1(NM_003664.5):c.177delA (p.K59Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720497" "0" "50" "5" "77409713" "77409713" "subst" "0.000426829" "01943" "AP3B1_000075" "g.77409713G>A" "" "" "" "AP3B1(NM_001271769.1):c.1965C>T (p.G655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720498" "0" "50" "5" "77458663" "77458663" "subst" "8.12988E-6" "01943" "AP3B1_000076" "g.77458663C>T" "" "" "" "AP3B1(NM_001271769.1):c.1196G>A (p.C399Y), AP3B1(NM_003664.4):c.1343G>A (p.C448Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720499" "0" "30" "5" "77471656" "77471656" "subst" "2.8477E-5" "02326" "AP3B1_000077" "g.77471656C>T" "" "" "" "AP3B1(NM_001271769.2):c.900G>A (p.V300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734426" "0" "70" "5" "77511926" "77511926" "subst" "0" "04011" "AP3B1_000078" "g.77511926T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735204" "0" "70" "5" "77471628" "77471628" "subst" "2.84775E-5" "04011" "AP3B1_000080" "g.77471628T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735399" "0" "70" "5" "77477362" "77477362" "subst" "5.29406E-5" "04011" "AP3B1_000081" "g.77477362G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735413" "0" "70" "5" "77334897" "77334897" "subst" "6.52087E-5" "04011" "AP3B1_000079" "g.77334897C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000850963" "0" "50" "5" "77334863" "77334863" "subst" "8.25662E-6" "01943" "AP3B1_000082" "g.77334863T>C" "" "" "" "AP3B1(NM_001271769.1):c.2662+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850964" "0" "50" "5" "77473181" "77473181" "subst" "0.000223472" "01943" "AP3B1_000044" "g.77473181C>T" "" "" "" "AP3B1(NM_001271769.1):c.875G>A (p.R292H), AP3B1(NM_001271769.2):c.875G>A (p.R292H), AP3B1(NM_003664.5):c.1022G>A (p.(Arg341His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859998" "0" "30" "5" "77406104" "77406104" "subst" "0.00165412" "02326" "AP3B1_000021" "g.77406104A>T" "" "" "" "AP3B1(NM_001271769.1):c.2177T>A (p.I726K), AP3B1(NM_003664.4):c.2324T>A (p.I775K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859999" "0" "30" "5" "77425062" "77425062" "subst" "0.000219425" "02326" "AP3B1_000083" "g.77425062T>C" "" "" "" "AP3B1(NM_003664.4):c.1720A>G (p.T574A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860000" "0" "30" "5" "77471591" "77471591" "subst" "0.00315727" "02326" "AP3B1_000084" "g.77471591G>A" "" "" "" "AP3B1(NM_003664.4):c.1095+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860001" "0" "30" "5" "77473154" "77473154" "subst" "0.000565929" "02326" "AP3B1_000027" "g.77473154A>T" "" "" "" "AP3B1(NM_001271769.1):c.893+9T>A, AP3B1(NM_001271769.2):c.893+9T>A, AP3B1(NM_003664.4):c.1040+9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886906" "0" "30" "5" "77311370" "77311370" "subst" "0.00413757" "02326" "AP3B1_000047" "g.77311370C>T" "" "" "" "AP3B1(NM_001271769.1):c.2848G>A (p.V950M), AP3B1(NM_003664.4):c.2995G>A (p.V999M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886907" "0" "50" "5" "77423968" "77423968" "subst" "0" "02325" "AP3B1_000085" "g.77423968C>G" "" "" "" "AP3B1(NM_003664.5):c.1854G>C (p.Q618H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886908" "0" "10" "5" "77511978" "77511978" "subst" "0.00370157" "02326" "AP3B1_000086" "g.77511978T>C" "" "" "" "AP3B1(NM_003664.4):c.687A>G (p.L229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886909" "0" "10" "5" "77524004" "77524004" "subst" "0.00356874" "02326" "AP3B1_000087" "g.77524004T>G" "" "" "" "AP3B1(NM_003664.4):c.339A>C (p.A113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886910" "0" "90" "5" "77590277" "77590277" "subst" "0" "02327" "AP3B1_000088" "g.77590277T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924376" "0" "30" "5" "77316593" "77316593" "subst" "0.000807313" "02326" "AP3B1_000048" "g.77316593T>C" "" "" "" "AP3B1(NM_001271769.1):c.2768A>G (p.N923S), AP3B1(NM_003664.4):c.2915A>G (p.N972S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924377" "0" "30" "5" "77412017" "77412017" "subst" "0" "02326" "AP3B1_000089" "g.77412017A>G" "" "" "" "AP3B1(NM_003664.4):c.2010T>C (p.N670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924378" "0" "30" "5" "77452188" "77452188" "subst" "0.000671934" "02326" "AP3B1_000055" "g.77452188A>G" "" "" "" "AP3B1(NM_001271769.1):c.1220T>C (p.I407T, p.(Ile407Thr)), AP3B1(NM_003664.4):c.1367T>C (p.I456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929099" "0" "30" "5" "77311229" "77311229" "subst" "0.000377757" "02326" "AP3B1_000010" "g.77311229C>A" "" "" "" "AP3B1(NM_001271769.1):c.2984+5G>T, AP3B1(NM_001271769.2):c.2984+5G>T, AP3B1(NM_003664.4):c.3131+5G>T, AP3B1(NM_003664.5):c.3131+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929100" "0" "30" "5" "77458663" "77458663" "subst" "8.12988E-6" "02326" "AP3B1_000076" "g.77458663C>T" "" "" "" "AP3B1(NM_001271769.1):c.1196G>A (p.C399Y), AP3B1(NM_003664.4):c.1343G>A (p.C448Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976852" "0" "30" "5" "77330199" "77330199" "subst" "0.00485153" "01804" "AP3B1_000012" "g.77330199G>A" "" "" "" "AP3B1(NM_001271769.2):c.2733C>T (p.A911=), AP3B1(NM_003664.4):c.2880C>T (p.A960=), AP3B1(NM_003664.5):c.2880C>T (p.(Ala960=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995172" "0" "30" "5" "77461480" "77461480" "subst" "0.000108858" "01804" "AP3B1_000058" "g.77461480T>C" "" "" "" "AP3B1(NM_001271769.1):c.1037A>G (p.(Asn346Ser)), AP3B1(NM_003664.4):c.1184A>G (p.N395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025126" "0" "90" "5" "77334974" "77334974" "subst" "0" "02327" "AP3B1_000090" "g.77334974G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025127" "0" "90" "5" "77425028" "77425028" "del" "0" "02327" "AP3B1_000091" "g.77425028del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051998" "0" "50" "5" "77311229" "77311229" "subst" "0.000377757" "01804" "AP3B1_000010" "g.77311229C>A" "" "" "" "AP3B1(NM_001271769.1):c.2984+5G>T, AP3B1(NM_001271769.2):c.2984+5G>T, AP3B1(NM_003664.4):c.3131+5G>T, AP3B1(NM_003664.5):c.3131+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051999" "0" "50" "5" "77423877" "77423877" "subst" "4.06276E-6" "01804" "AP3B1_000092" "g.77423877G>C" "" "" "" "AP3B1(NM_003664.5):c.1945C>G (p.(Arg649Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AP3B1 ## Count = 126 "{{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}}" "0000039717" "00002637" "90" "1168" "-1" "1230" "1" "c.1168-?_1230+?del" "r.1168_1230del" "p.Leu390_Gln410del" "11i_12i" "0000039718" "00002637" "90" "1619" "0" "1619" "0" "c.1619dup" "r.1619dup" "p.(Ala541SerfsTer25)" "15" "0000039719" "00002637" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.0" "p.(Arg509*)" "15" "0000039720" "00002637" "90" "1474" "-7070" "1650" "925" "c.1474-7070_1650+925del" "r.del?" "p.(del)" "14i" "0000039721" "00002637" "90" "904" "0" "904" "0" "c.904A>T" "r.(?)" "p.(Arg302*)" "8" "0000039742" "00002637" "90" "1739" "0" "1739" "0" "c.1739T>G" "r.1739u>g" "p.Leu580Arg" "16" "0000039743" "00002637" "90" "1473" "6" "1473" "6" "c.1473+6T>C" "r.1473_1474ins1473+1_1473+39{1473+6u>c}" "p.(fs*)" "14i" "0000039744" "00002637" "90" "1975" "0" "1975" "0" "c.1975G>T" "r.0" "p.(Glu659*)" "18" "0000039745" "00002637" "90" "1474" "-7070" "1650" "925" "c.1474-7070_1650+925del" "r.del?" "p.(del)" "14i" "0000039746" "00002637" "90" "904" "0" "904" "0" "c.904A>T" "r.(?)" "p.(Arg302*)" "8" "0000246304" "00002637" "10" "1317" "0" "1317" "0" "c.1317T>G" "r.(?)" "p.(Thr439=)" "" "0000246310" "00002637" "10" "1857" "0" "1857" "0" "c.1857T>G" "r.(?)" "p.(Leu619=)" "" "0000246336" "00002637" "10" "2424" "0" "2424" "0" "c.2424T>C" "r.(?)" "p.(Asp808=)" "" "0000246369" "00002637" "10" "1040" "9" "1040" "9" "c.1040+9T>A" "r.(=)" "p.(=)" "" "0000248558" "00002637" "10" "2016" "0" "2016" "0" "c.2016T>C" "r.(?)" "p.(Ala672=)" "" "0000248559" "00002637" "10" "1038" "0" "1038" "0" "c.1038T>C" "r.(?)" "p.(Asn346=)" "" "0000248942" "00002637" "10" "1754" "0" "1754" "0" "c.1754T>A" "r.(?)" "p.(Val585Glu)" "" "0000250956" "00002637" "10" "1857" "0" "1857" "0" "c.1857T>G" "r.(?)" "p.(Leu619=)" "" "0000253577" "00002637" "10" "2324" "0" "2324" "0" "c.2324T>A" "r.(?)" "p.(Ile775Lys)" "" "0000254134" "00002637" "30" "1317" "0" "1317" "0" "c.1317T>G" "r.(?)" "p.(Thr439=)" "" "0000256512" "00002637" "50" "2029" "0" "2029" "0" "c.2029T>C" "r.(?)" "p.(Ser677Pro)" "" "0000257893" "00002637" "10" "279" "16" "279" "16" "c.279+16A>G" "r.(=)" "p.(=)" "" "0000257894" "00002637" "10" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Ser780=)" "" "0000257895" "00002637" "10" "2470" "10" "2470" "10" "c.2470+10G>C" "r.(=)" "p.(=)" "" "0000257896" "00002637" "10" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Thr862Ile)" "" "0000257897" "00002637" "10" "2613" "0" "2613" "0" "c.2613C>T" "r.(?)" "p.(His871=)" "" "0000257898" "00002637" "30" "2626" "0" "2626" "0" "c.2626C>A" "r.(?)" "p.(Arg876=)" "" "0000257899" "00002637" "10" "2880" "0" "2880" "0" "c.2880C>T" "r.(?)" "p.(Ala960=)" "" "0000257900" "00002637" "50" "3131" "5" "3131" "5" "c.3131+5G>T" "r.spl?" "p.?" "" "0000257901" "00002637" "90" "177" "0" "177" "0" "c.177del" "r.(?)" "p.(Lys59AsnfsTer5)" "" "0000257902" "00002637" "50" "3254" "0" "3254" "0" "c.3254G>A" "r.(?)" "p.(Arg1085Gln)" "" "0000257903" "00002637" "10" "867" "0" "867" "0" "c.867G>A" "r.(?)" "p.(Lys289=)" "" "0000257904" "00002637" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" "" "0000257905" "00002637" "30" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Ile357Val)" "" "0000259505" "00002637" "30" "2661" "0" "2661" "0" "c.2661C>A" "r.(?)" "p.(Phe887Leu)" "" "0000261000" "00002637" "10" "2078" "-103" "2078" "-103" "c.2078-103A>G" "r.(=)" "p.(=)" "" "0000261001" "00002637" "30" "2398" "-218" "2398" "-218" "c.2398-218C>T" "r.(=)" "p.(=)" "" "0000261002" "00002637" "10" "2409" "0" "2411" "0" "c.2409_2411del" "r.(?)" "p.(Lys804del)" "" "0000261003" "00002637" "10" "2661" "0" "2661" "0" "c.2661C>A" "r.(?)" "p.(Phe887Leu)" "" "0000261005" "00002637" "30" "280" "-6" "280" "-6" "c.280-6dup" "r.(=)" "p.(=)" "" "0000261006" "00002637" "10" "2810" "-4" "2810" "-4" "c.2810-4C>T" "r.spl?" "p.?" "" "0000261007" "00002637" "10" "3023" "0" "3025" "0" "c.3023_3025del" "r.(?)" "p.(Ala1008del)" "" "0000262553" "00002637" "50" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730Trp)" "" "0000262554" "00002637" "50" "2345" "0" "2345" "0" "c.2345C>T" "r.(?)" "p.(Ser782Phe)" "" "0000262555" "00002637" "50" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Gln11Arg)" "" "0000262556" "00002637" "30" "942" "0" "942" "0" "c.942G>A" "r.(?)" "p.(Ala314=)" "" "0000262557" "00002637" "30" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Ile357Val)" "" "0000330437" "00002637" "30" "1367" "0" "1367" "0" "c.1367T>C" "r.(?)" "p.(Ile456Thr)" "" "0000330438" "00002637" "50" "373" "0" "373" "0" "c.373A>C" "r.(?)" "p.(Lys125Gln)" "" "0000330439" "00002637" "50" "177" "0" "177" "0" "c.177del" "r.(?)" "p.(Lys59AsnfsTer5)" "" "0000526041" "00002637" "30" "3207" "0" "3207" "0" "c.3207G>A" "r.(?)" "p.(Gln1069=)" "" "0000526042" "00002637" "50" "3131" "5" "3131" "5" "c.3131+5G>T" "r.spl?" "p.?" "" "0000526043" "00002637" "30" "2995" "0" "2995" "0" "c.2995G>A" "r.(?)" "p.(Val999Met)" "" "0000526044" "00002637" "30" "2915" "0" "2915" "0" "c.2915A>G" "r.(?)" "p.(Asn972Ser)" "" "0000526045" "00002637" "30" "2880" "0" "2880" "0" "c.2880C>T" "r.(?)" "p.(Ala960=)" "" "0000526046" "00002637" "10" "2730" "0" "2730" "0" "c.2730T>C" "r.(?)" "p.(Thr910=)" "" "0000526047" "00002637" "30" "2730" "0" "2730" "0" "c.2730T>C" "r.(?)" "p.(Thr910=)" "" "0000526048" "00002637" "10" "2730" "0" "2730" "0" "c.2730T>C" "r.(?)" "p.(Thr910=)" "" "0000526049" "00002637" "30" "2613" "0" "2613" "0" "c.2613C>T" "r.(?)" "p.(His871=)" "" "0000526050" "00002637" "30" "2577" "3" "2577" "3" "c.2577+3A>G" "r.spl?" "p.?" "" "0000526051" "00002637" "30" "2470" "10" "2470" "10" "c.2470+10G>C" "r.(=)" "p.(=)" "" "0000526052" "00002637" "30" "2409" "0" "2411" "0" "c.2409_2411del" "r.(?)" "p.(Lys804del)" "" "0000526053" "00002637" "50" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Glu771Lys)" "" "0000526054" "00002637" "30" "1838" "-19" "1838" "-19" "c.1838-19T>G" "r.(=)" "p.(=)" "" "0000526055" "00002637" "30" "1421" "0" "1421" "0" "c.1421C>T" "r.(?)" "p.(Ala474Val)" "" "0000526056" "00002637" "30" "1367" "0" "1367" "0" "c.1367T>C" "r.(?)" "p.(Ile456Thr)" "" "0000526057" "00002637" "30" "1230" "6" "1230" "6" "c.1230+6T>G" "r.(=)" "p.(=)" "" "0000526058" "00002637" "50" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Ala400Pro)" "" "0000526059" "00002637" "30" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Asn395Ser)" "" "0000526060" "00002637" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" "" "0000526061" "00002637" "50" "942" "17" "942" "17" "c.942+17A>G" "r.(=)" "p.(=)" "" "0000526062" "00002637" "30" "847" "0" "847" "0" "c.847A>C" "r.(?)" "p.(Lys283Gln)" "" "0000526063" "00002637" "30" "495" "0" "495" "0" "c.495T>C" "r.(?)" "p.(Tyr165=)" "" "0000526064" "00002637" "30" "280" "-3" "280" "-3" "c.280-3dup" "r.spl?" "p.?" "" "0000526066" "00002637" "30" "205" "-13" "205" "-13" "c.205-13G>A" "r.(=)" "p.(=)" "" "0000526070" "00002637" "30" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Leu36=)" "" "0000609793" "00002637" "30" "2613" "0" "2613" "0" "c.2613C>T" "r.(?)" "p.(His871=)" "" "0000609794" "00002637" "30" "1857" "0" "1857" "0" "c.1857T>G" "r.(?)" "p.(Leu619=)" "" "0000609795" "00002637" "30" "1317" "0" "1317" "0" "c.1317T>G" "r.(?)" "p.(Thr439=)" "" "0000609796" "00002637" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Pro216=)" "" "0000609797" "00002637" "30" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Leu130=)" "" "0000621589" "00002637" "30" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(Asp770=)" "" "0000621590" "00002637" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Tyr274=)" "" "0000621591" "00002637" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000651766" "00002637" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" "" "0000655412" "00002637" "30" "3207" "0" "3207" "0" "c.3207G>A" "r.(?)" "p.(Gln1069=)" "" "0000655413" "00002637" "30" "1167" "20" "1167" "20" "c.1167+20dup" "r.(=)" "p.(=)" "" "0000655414" "00002637" "30" "1040" "9" "1040" "9" "c.1040+9T>A" "r.(=)" "p.(=)" "" "0000663615" "00002637" "50" "2995" "0" "2995" "0" "c.2995G>A" "r.(?)" "p.(Val999Met)" "" "0000663616" "00002637" "50" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Ala400Pro)" "" "0000677550" "00002637" "30" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Ser780=)" "" "0000677551" "00002637" "50" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Asp530Gly)" "" "0000689547" "00002637" "70" "2816" "0" "2816" "0" "c.2816T>C" "r.(?)" "p.(Leu939Pro)" "" "0000689548" "00002637" "50" "2007" "0" "2007" "0" "c.2007G>T" "r.(?)" "p.(Glu669Asp)" "" "0000689549" "00002637" "50" "1495" "0" "1495" "0" "c.1495A>G" "r.(?)" "p.(Ile499Val)" "" "0000689550" "00002637" "30" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Ile357Val)" "" "0000689551" "00002637" "90" "177" "0" "177" "0" "c.177del" "r.(?)" "p.(Lys59AsnfsTer5)" "" "0000720497" "00002637" "50" "2112" "0" "2112" "0" "c.2112C>T" "r.(?)" "p.(Gly704=)" "" "0000720498" "00002637" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Cys448Tyr)" "" "0000720499" "00002637" "30" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Val349=)" "" "0000734426" "00002637" "50" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Met247Val)" "" "0000735204" "00002637" "50" "1075" "0" "1075" "0" "c.1075A>G" "r.(?)" "p.(Thr359Ala)" "" "0000735399" "00002637" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Thr304Ile)" "" "0000735413" "00002637" "50" "2779" "0" "2779" "0" "c.2779G>A" "r.(?)" "p.(Gly927Ser)" "" "0000850963" "00002637" "50" "2809" "4" "2809" "4" "c.2809+4A>G" "r.spl?" "p.?" "" "0000850964" "00002637" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" "" "0000859998" "00002637" "30" "2324" "0" "2324" "0" "c.2324T>A" "r.(?)" "p.(Ile775Lys)" "" "0000859999" "00002637" "30" "1720" "0" "1720" "0" "c.1720A>G" "r.(?)" "p.(Thr574Ala)" "" "0000860000" "00002637" "30" "1095" "17" "1095" "17" "c.1095+17C>T" "r.(=)" "p.(=)" "" "0000860001" "00002637" "30" "1040" "9" "1040" "9" "c.1040+9T>A" "r.(=)" "p.(=)" "" "0000886906" "00002637" "30" "2995" "0" "2995" "0" "c.2995G>A" "r.(?)" "p.(Val999Met)" "" "0000886907" "00002637" "50" "1854" "0" "1854" "0" "c.1854G>C" "r.(?)" "p.(Gln618His)" "" "0000886908" "00002637" "10" "687" "0" "687" "0" "c.687A>G" "r.(?)" "p.(Leu229=)" "" "0000886909" "00002637" "10" "339" "0" "339" "0" "c.339A>C" "r.(?)" "p.(Ala113=)" "" "0000886910" "00002637" "90" "127" "0" "127" "0" "c.127A>T" "r.(?)" "p.(Lys43*)" "" "0000924376" "00002637" "30" "2915" "0" "2915" "0" "c.2915A>G" "r.(?)" "p.(Asn972Ser)" "" "0000924377" "00002637" "30" "2010" "0" "2010" "0" "c.2010T>C" "r.(?)" "p.(Asn670=)" "" "0000924378" "00002637" "30" "1367" "0" "1367" "0" "c.1367T>C" "r.(?)" "p.(Ile456Thr)" "" "0000929099" "00002637" "30" "3131" "5" "3131" "5" "c.3131+5G>T" "r.spl?" "p.?" "" "0000929100" "00002637" "30" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Cys448Tyr)" "" "0000976852" "00002637" "30" "2880" "0" "2880" "0" "c.2880C>T" "r.(?)" "p.(Ala960=)" "" "0000995172" "00002637" "30" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Asn395Ser)" "" "0001025126" "00002637" "90" "2702" "0" "2702" "0" "c.2702C>G" "r.(?)" "p.(Ser901Cys)" "" "0001025127" "00002637" "90" "1754" "0" "1754" "0" "c.1754del" "r.(?)" "p.(Val585Glufs*6)" "" "0001051998" "00002637" "50" "3131" "5" "3131" "5" "c.3131+5G>T" "r.spl?" "p.?" "" "0001051999" "00002637" "50" "1945" "0" "1945" "0" "c.1945C>G" "r.(?)" "p.(Arg649Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000019471" "0000039717" "0000019471" "0000039742" "0000019472" "0000039718" "0000019472" "0000039743" "0000019473" "0000039719" "0000019473" "0000039744" "0000019474" "0000039720" "0000019474" "0000039745" "0000019475" "0000039721" "0000019475" "0000039746" "0000295077" "0000651766" "0000300751" "0000663615" "0000300751" "0000663616" "0000335706" "0000734426" "0000336132" "0000735204" "0000336237" "0000735399" "0000336240" "0000735413"