### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP4E1) # 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}}" "AP4E1" "adaptor-related protein complex 4, epsilon 1 subunit" "15" "q21.2" "unknown" "NG_031875.1" "UD_136022102864" "" "https://www.LOVD.nl/AP4E1" "" "1" "573" "23431" "607244" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-13 14:02:36" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00002646" "AP4E1" "transcript variant 2" "001" "NM_001252127.1" "" "NP_001239056.1" "" "" "" "-355" "6427" "3189" "51200869" "51298097" "" "0000-00-00 00:00:00" "" "" "00026030" "AP4E1" "transcript variant 1" "003" "NM_007347.4" "" "NP_031373.2" "" "" "" "-107" "6652" "3414" "51200869" "51298097" "00006" "2025-11-10 20:01:49" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03414" "SPG51" "Spastic paraplegia 51, autosomal recessive" "AR" "613744" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AP4E1" "00139" "AP4E1" "03414" ## 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}}" "00011655" "" "" "" "1" "" "00006" "{PMID:Abou Jamra 2011:21620353}" "3-generation family, 2 affecteds, unaffacted carrier parents" "M" "yes" "Syria" "" "0" "" "" "" "" "00011656" "" "" "" "1" "" "00006" "" "3-generation family, 2 affecteds, unaffected carrier parents" "F" "yes" "Syria" "" "0" "" "" "" "" "00011657" "" "" "" "1" "" "00006" "{PMID:Abou Jamra 2011:21620353}" "family" "?" "yes" "Syria" "" "0" "" "" "" "" "00011658" "" "" "" "160" "" "00006" "{PMID:Abou Jamra 2011:21620353}" "" "" "-" "Syria" "" "0" "" "" "" "" "00011659" "" "" "" "1" "" "00006" "{PMID:Moreno-De-Luca 2011:20972249}" "4-generation family, 2 affecteds, unaffected carrier parents" "F" "yes" "Jordan" "" "0" "" "" "Palestine" "" "00011660" "" "" "" "1" "" "00006" "{PMID:Moreno-De-Luca 2011:20972249}" "4-generation family, 2 affecteds, unaffected carrier parents" "M" "yes" "Jordan" "" "0" "" "" "Palestine" "" "00080818" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00150233" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 2 affected brothers, unaffected carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "26539891-PatBAB5029" "00291262" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00468622" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468623" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00011655" "00139" "00011656" "00139" "00011657" "00139" "00011658" "00000" "00011659" "00139" "00011660" "00139" "00080818" "03414" "00150233" "00198" "00291262" "00198" "00468622" "00198" "00468623" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 03414 ## Count = 9 "{{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}}" "0000010350" "00139" "00011655" "00006" "Familial, autosomal recessive" "11y" "severe ID; no normal speech, no stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -3SD, height 125cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight" "" "" "" "" "" "" "" "" "" "" "" "0000010351" "00139" "00011656" "00006" "Familial, autosomal recessive" "06y" "severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -4SD, height 105cm, epilepsy, no sphincter control, normal eye, normal hearing, no overweight" "" "" "" "" "" "" "" "" "" "" "" "0000010352" "00139" "00011657" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000010353" "00139" "00011659" "00006" "Familial, autosomal recessive" "23y" "severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing" "" "" "" "" "" "" "" "" "" "" "" "0000010354" "00139" "00011660" "00006" "Familial, autosomal recessive" "22y" "severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing" "" "" "" "" "" "" "" "" "" "" "" "0000060387" "03414" "00080818" "01758" "Familial, autosomal recessive" "" "Spastic paraplegia 51 (OMIM:613744)" "" "" "" "" "" "" "" "" "" "" "" "0000122637" "00198" "00150233" "00006" "Familial, autosomal recessive" "" "intellectual disability, microcephaly, seizures, spasticity, hyperintensity changes in both cerebellar hemispheres and subcortical deep white matter" "" "" "" "" "" "" "" "" "" "" "" "0000353775" "00198" "00468622" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353776" "00198" "00468623" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## 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}}" "0000011570" "00011655" "1" "00006" "00006" "2014-02-15 17:40:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000011571" "00011656" "1" "00006" "00006" "2014-02-15 17:54:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000011572" "00011657" "1" "00006" "00006" "2014-02-15 18:54:38" "" "" "SEQ" "DNA" "" "" "0000011573" "00011658" "1" "00006" "00006" "2014-02-15 18:58:50" "" "" "SEQ" "DNA" "" "" "0000011574" "00011659" "1" "00006" "00006" "2014-02-15 19:32:41" "" "" "arrayCGH" "DNA" "" "" "0000011575" "00011660" "1" "00006" "00006" "2014-02-15 19:59:22" "" "" "arrayCGH" "DNA" "" "" "0000080930" "00080818" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000151088" "00150233" "1" "00006" "00006" "2018-01-13 14:08:26" "" "" "arrayCGH" "DNA" "" "" "0000292430" "00291262" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000470290" "00468622" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470291" "00468623" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000011570" "AP4E1" "0000011571" "AP4E1" "0000011572" "AP4E1" "0000011573" "AP4E1" "0000080930" "AP4E1" "0000151088" "AP4E1" "0000151088" "TNFAIP8L3" ## 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 = 83 "{{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}}" "0000031213" "3" "95" "15" "51217421" "51217424" "del" "0" "00006" "AP4E1_000001" "g.51217421_51217424del" "" "{PMID:Abou Jamra 2011:21620353}" "" "NM_007347.4:c.542+1_542+4del" "not in 740 control chromosomesc.317+1_317+4del" "Germline" "yes" "" "0" "" "" "g.50925224_50925227del" "" "pathogenic" "" "0000031214" "3" "95" "15" "51217421" "51217424" "del" "0" "00006" "AP4E1_000001" "g.51217421_51217424del" "" "{PMID:Abou Jamra 2011:21620353}" "" "" "not in 740 control chromosomes" "Germline" "yes" "" "0" "" "" "g.50925224_50925227del" "" "pathogenic" "" "0000031215" "0" "15" "15" "51242097" "51242107" "del" "0" "00006" "AP4E1_000002" "g.51242097_51242107del" "" "" "" "NM_007347.4:c.1346+44_1346+54del" "intron 11" "Germline" "?" "" "0" "" "" "g.50949900_50949910del" "" "benign" "" "0000031216" "0" "15" "15" "51242097" "51242107" "del" "0" "00006" "AP4E1_000002" "g.51242097_51242107del" "0.20" "{PMID:Abou Jamra 2011:21620353}" "" "NM_007347.4:c.1346+44_1346+54del" "intron 11; tested 320 control chromosomes" "Germline" "no" "" "0" "" "" "g.50949900_50949910del" "" "benign" "" "0000031221" "3" "95" "15" "51048188" "51240879" "del" "0" "00006" "AP4E1_000003" "g.51048188_51240879del" "" "{PMID:Moreno-De-Luca 2011:20972249}" "" "hg18:g.48835480_49028171del" "" "Germline" "yes" "" "0" "" "" "g.50755991_50948682del" "" "pathogenic" "" "0000031222" "3" "90" "15" "51048188" "51240879" "del" "0" "00006" "AP4E1_000003" "g.51048188_51240879del" "" "{PMID:Moreno-De-Luca 2011:20972249}" "" "hg18:g.48835480_49028171del" "" "Germline" "yes" "" "0" "" "" "g.50755991_50948682del" "" "pathogenic" "" "0000031223" "3" "95" "15" "51048188" "51240879" "del" "0" "00006" "AP4E1_000003" "g.51048188_51240879del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50755991_50948682del" "" "pathogenic" "" "0000031224" "3" "95" "15" "51048188" "51240879" "del" "0" "00006" "AP4E1_000003" "g.51048188_51240879del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50755991_50948682del" "" "pathogenic" "" "0000130016" "3" "70" "15" "51233731" "51233732" "del" "0" "01758" "AP4E1_000004" "g.51233731_51233732del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.50941534_50941535del" "" "likely pathogenic" "ACMG" "0000244258" "3" "90" "15" "51204274" "51397374" "del" "0" "00006" "AP4E1_000005" "g.51204274_51397374del" "" "{PMID:Karaca 2015:26539891}" "" "" "193 kb deletion, brother heterozygous for deletion" "Germline" "" "" "0" "" "" "g.50912077_51105177del" "" "pathogenic" "" "0000254255" "0" "30" "15" "51223151" "51223151" "subst" "0.000784489" "01943" "AP4E1_000014" "g.51223151A>G" "" "" "" "AP4E1(NM_007347.4):c.852A>G (p.L284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50930954A>G" "" "likely benign" "" "0000254692" "0" "30" "15" "51204289" "51204289" "subst" "2.84315E-5" "01943" "AP4E1_000006" "g.51204289A>G" "" "" "" "AP4E1(NM_007347.4):c.165A>G (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50912092A>G" "" "likely benign" "" "0000255296" "0" "30" "15" "51294681" "51294681" "subst" "0" "01943" "AP4E1_000032" "g.51294681A>G" "" "" "" "AP4E1(NM_007347.4):c.3254-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51002484A>G" "" "likely benign" "" "0000256068" "0" "50" "15" "51240316" "51240316" "subst" "0.000886655" "01943" "AP4E1_000020" "g.51240316A>C" "" "" "" "AP4E1(NM_001252127.1):c.1051A>C (p.I351L), AP4E1(NM_007347.5):c.1276A>C (p.(Ile426Leu), p.I426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50948119A>C" "" "VUS" "" "0000256446" "0" "50" "15" "51285678" "51285678" "subst" "4.07438E-6" "01943" "AP4E1_000027" "g.51285678A>G" "" "" "" "AP4E1(NM_001252127.1):c.1977A>G (p.Q659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50993481A>G" "" "VUS" "" "0000256556" "0" "50" "15" "51233901" "51233901" "subst" "4.88234E-5" "01943" "AP4E1_000017" "g.51233901A>C" "" "" "" "AP4E1(NM_007347.4):c.1105A>C (p.T369P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50941704A>C" "" "VUS" "" "0000256687" "0" "50" "15" "51207697" "51207697" "subst" "4.46911E-5" "01943" "AP4E1_000009" "g.51207697A>G" "" "" "" "AP4E1(NM_007347.4):c.275A>G (p.Y92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50915500A>G" "" "VUS" "" "0000259107" "0" "10" "15" "51204364" "51204364" "subst" "0.571255" "02325" "AP4E1_000008" "g.51204364G>A" "" "" "" "AP4E1(NM_001252127.2):c.-27+18G>A, AP4E1(NM_007347.4):c.222+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50912167G>A" "" "benign" "" "0000259108" "0" "10" "15" "51217361" "51217361" "subst" "0.428643" "02325" "AP4E1_000012" "g.51217361T>C" "" "" "" "AP4E1(NM_001252127.2):c.262T>C (p.C88R), AP4E1(NM_007347.4):c.487T>C (p.C163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50925164T>C" "" "benign" "" "0000259109" "0" "10" "15" "51294832" "51294832" "subst" "0.221286" "02325" "AP4E1_000033" "g.51294832G>A" "" "" "" "AP4E1(NM_001252127.2):c.3162G>A (p.Q1054=), AP4E1(NM_007347.4):c.3387G>A (p.Q1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51002635G>A" "" "benign" "" "0000259667" "0" "50" "15" "51285670" "51285670" "subst" "0" "02325" "AP4E1_000026" "g.51285670G>T" "" "" "" "AP4E1(NM_001252127.2):c.1969G>T (p.V657F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50993473G>T" "" "VUS" "" "0000260124" "0" "90" "15" "51289980" "51289980" "subst" "0" "02329" "AP4E1_000030" "g.51289980G>A" "" "" "" "AP4E1(NM_001252127.2):c.2579G>A (p.W860*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50997783G>A" "" "pathogenic" "" "0000262568" "0" "10" "15" "51204364" "51204364" "subst" "0.571255" "01943" "AP4E1_000008" "g.51204364G>A" "" "" "" "AP4E1(NM_001252127.2):c.-27+18G>A, AP4E1(NM_007347.4):c.222+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50912167G>A" "" "benign" "" "0000262569" "0" "50" "15" "51233731" "51233731" "subst" "4.09035E-6" "01943" "AP4E1_000016" "g.51233731C>A" "" "" "" "AP4E1(NM_007347.4):c.1036C>A (p.L346M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50941534C>A" "" "VUS" "" "0000262570" "0" "10" "15" "51240208" "51240208" "subst" "0.00385215" "01943" "AP4E1_000019" "g.51240208T>C" "" "" "" "AP4E1(NM_001252127.2):c.952-9T>C, AP4E1(NM_007347.4):c.1177-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50948011T>C" "" "benign" "" "0000262571" "0" "50" "15" "51242042" "51242042" "subst" "2.03454E-5" "01943" "AP4E1_000021" "g.51242042T>C" "" "" "" "AP4E1(NM_007347.4):c.1336T>C (p.W446R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50949845T>C" "" "VUS" "" "0000262572" "0" "30" "15" "51250706" "51250706" "subst" "0.000555318" "01943" "AP4E1_000022" "g.51250706C>G" "" "" "" "AP4E1(NM_007347.4):c.1566C>G (p.S522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50958509C>G" "" "likely benign" "" "0000262573" "0" "30" "15" "51204295" "51204295" "subst" "0.00120222" "01943" "AP4E1_000007" "g.51204295G>A" "" "" "" "AP4E1(NM_007347.4):c.171G>A (p.Q57=), AP4E1(NM_007347.5):c.171G>A (p.Q57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50912098G>A" "" "likely benign" "" "0000262575" "0" "30" "15" "51285669" "51285669" "subst" "4.48277E-5" "01943" "AP4E1_000025" "g.51285669T>C" "" "" "" "AP4E1(NM_007347.4):c.2193T>C (p.P731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50993472T>C" "" "likely benign" "" "0000262576" "0" "30" "15" "51289605" "51289605" "subst" "0.00276611" "01943" "AP4E1_000028" "g.51289605C>T" "" "" "" "AP4E1(NM_007347.4):c.2429C>T (p.T810I), AP4E1(NM_007347.5):c.2429C>T (p.T810I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50997408C>T" "" "likely benign" "" "0000262577" "0" "30" "15" "51289977" "51289977" "subst" "0" "01943" "AP4E1_000029" "g.51289977T>C" "" "" "" "AP4E1(NM_001252127.1):c.2576T>C (p.I859T), AP4E1(NM_007347.5):c.2801T>C (p.I934T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50997780T>C" "" "likely benign" "" "0000262578" "0" "10" "15" "51217361" "51217361" "subst" "0.428643" "01943" "AP4E1_000012" "g.51217361T>C" "" "" "" "AP4E1(NM_001252127.2):c.262T>C (p.C88R), AP4E1(NM_007347.4):c.487T>C (p.C163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50925164T>C" "" "benign" "" "0000262579" "0" "10" "15" "51294832" "51294832" "subst" "0.221286" "01943" "AP4E1_000033" "g.51294832G>A" "" "" "" "AP4E1(NM_001252127.2):c.3162G>A (p.Q1054=), AP4E1(NM_007347.4):c.3387G>A (p.Q1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51002635G>A" "" "benign" "" "0000262580" "0" "30" "15" "51216210" "51216210" "subst" "0" "01943" "AP4E1_000010" "g.51216210T>C" "" "" "" "AP4E1(NM_007347.4):c.420+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50924013T>C" "" "likely benign" "" "0000262581" "0" "30" "15" "51217275" "51217275" "subst" "0.00105624" "01943" "AP4E1_000011" "g.51217275T>C" "" "" "" "AP4E1(NM_007347.4):c.421-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50925078T>C" "" "likely benign" "" "0000262582" "0" "50" "15" "51226840" "51226840" "subst" "8.14266E-6" "01943" "AP4E1_000015" "g.51226840G>T" "" "" "" "AP4E1(NM_007347.4):c.889G>T (p.D297Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50934643G>T" "" "VUS" "" "0000262583" "0" "30" "15" "51233981" "51233981" "subst" "4.10277E-6" "01943" "AP4E1_000018" "g.51233981G>A" "" "" "" "AP4E1(NM_001252127.1):c.951+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50941784G>A" "" "likely benign" "" "0000324109" "0" "50" "15" "51223015" "51223015" "subst" "1.21948E-5" "01804" "AP4E1_000013" "g.51223015G>T" "" "" "" "AP4E1(NM_001252127.1):c.491G>T (p.(Gly164Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50930818G>T" "" "VUS" "" "0000324110" "0" "50" "15" "51260533" "51260533" "subst" "9.76992E-5" "01804" "AP4E1_000024" "g.51260533C>T" "" "" "" "AP4E1(NM_001252127.1):c.1700C>T (p.(Pro567Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50968336C>T" "" "VUS" "" "0000324111" "0" "50" "15" "51291297" "51291297" "subst" "0" "01804" "AP4E1_000031" "g.51291297C>T" "" "" "" "AP4E1(NM_001252127.1):c.2708C>T (p.(Pro903Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50999100C>T" "" "VUS" "" "0000348635" "0" "50" "15" "51291429" "51291429" "subst" "0" "02327" "AP4E1_000034" "g.51291429C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50999232C>G" "" "VUS" "" "0000554743" "0" "30" "15" "51207680" "51207680" "subst" "0.000325061" "01943" "AP4E1_000035" "g.51207680T>C" "" "" "" "AP4E1(NM_001252127.1):c.33T>C (p.Y11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50915483T>C" "" "likely benign" "" "0000554746" "0" "90" "15" "51226861" "51226861" "subst" "0" "02325" "AP4E1_000038" "g.51226861C>T" "" "" "" "AP4E1(NM_001252127.2):c.685C>T (p.R229*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50934664C>T" "" "pathogenic" "" "0000554747" "0" "50" "15" "51242055" "51242055" "subst" "0" "01804" "AP4E1_000039" "g.51242055C>A" "" "" "" "AP4E1(NM_001252127.1):c.1124C>A (p.(Thr375Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50949858C>A" "" "VUS" "" "0000554748" "0" "30" "15" "51242303" "51242303" "subst" "0.000199378" "01943" "AP4E1_000040" "g.51242303T>C" "" "" "" "AP4E1(NM_007347.4):c.1485T>C (p.Y495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50950106T>C" "" "likely benign" "" "0000554749" "0" "30" "15" "51250965" "51250965" "subst" "0.000101712" "01804" "AP4E1_000041" "g.51250965G>C" "" "" "" "AP4E1(NM_001252127.1):c.1600G>C (p.(Val534Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50958768G>C" "" "likely benign" "" "0000554751" "0" "50" "15" "51293342" "51293342" "subst" "0" "01943" "AP4E1_000042" "g.51293342T>A" "" "" "" "AP4E1(NM_001252127.1):c.2990T>A (p.L997Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51001145T>A" "" "VUS" "" "0000615394" "0" "50" "15" "51240316" "51240316" "subst" "0" "02326" "AP4E1_000043" "g.51240316A>G" "" "" "" "AP4E1(NM_001252127.2):c.1051A>G (p.I351V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50948119A>G" "" "VUS" "" "0000615395" "0" "50" "15" "51293225" "51293225" "subst" "0" "01943" "AP4E1_000046" "g.51293225C>G" "" "" "" "AP4E1(NM_001252127.1):c.2873C>G (p.P958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51001028C>G" "" "VUS" "" "0000623252" "0" "50" "15" "51285584" "51285584" "subst" "0" "02325" "AP4E1_000044" "g.51285584T>C" "" "" "" "AP4E1(NM_001252127.2):c.1883T>C (p.L628P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50993387T>C" "" "VUS" "" "0000623253" "0" "30" "15" "51289757" "51289757" "subst" "0" "01943" "AP4E1_000045" "g.51289757C>T" "" "" "" "AP4E1(NM_001252127.1):c.2356C>T (p.L786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50997560C>T" "" "likely benign" "" "0000649119" "1" "50" "15" "51294759" "51294759" "subst" "4.06379E-5" "03575" "AP4E1_000047" "g.51294759G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs139640763}" "Germline" "" "rs139640763" "0" "" "" "g.51002562G>A" "" "VUS" "" "0000657603" "0" "30" "15" "51289747" "51289747" "subst" "8.13756E-6" "01943" "AP4E1_000048" "g.51289747A>G" "" "" "" "AP4E1(NM_001252127.1):c.2346A>G (p.S782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50997550A>G" "" "likely benign" "" "0000680208" "0" "30" "15" "51240208" "51240208" "subst" "0.00385215" "02326" "AP4E1_000019" "g.51240208T>C" "" "" "" "AP4E1(NM_001252127.2):c.952-9T>C, AP4E1(NM_007347.4):c.1177-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680209" "0" "50" "15" "51250993" "51250996" "dup" "0" "01943" "AP4E1_000049" "g.51250993_51250996dup" "" "" "" "AP4E1(NM_001252127.1):c.1626_1626+1insGTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725175" "0" "30" "15" "51204343" "51204343" "subst" "4.06141E-6" "01943" "AP4E1_000050" "g.51204343A>G" "" "" "" "AP4E1(NM_007347.4):c.219A>G (p.T73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806753" "0" "50" "15" "51223056" "51223056" "subst" "4.06372E-6" "01943" "AP4E1_000051" "g.51223056C>G" "" "" "" "AP4E1(NM_001252127.1):c.532C>G (p.Q178E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806754" "0" "30" "15" "51276296" "51276296" "subst" "5.69801E-5" "01943" "AP4E1_000052" "g.51276296C>G" "" "" "" "AP4E1(NM_001252127.1):c.1819C>G (p.L607V), AP4E1(NM_007347.4):c.2044C>G (p.(Leu682Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806755" "0" "30" "15" "51285832" "51285832" "subst" "0.000534842" "01943" "AP4E1_000053" "g.51285832C>T" "" "" "" "AP4E1(NM_001252127.1):c.2121+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854075" "0" "30" "15" "51289846" "51289846" "subst" "0" "01943" "AP4E1_000057" "g.51289846A>G" "" "" "" "AP4E1(NM_001252127.1):c.2445A>G (p.Q815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854076" "0" "30" "15" "51291296" "51291296" "subst" "0.000525163" "01943" "AP4E1_000058" "g.51291296C>T" "" "" "" "AP4E1(NM_001252127.1):c.2707C>T (p.P903S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863890" "0" "30" "15" "51223121" "51223121" "subst" "4.06349E-6" "01943" "AP4E1_000054" "g.51223121A>G" "" "" "" "AP4E1(NM_001252127.1):c.597A>G (p.Q199=), AP4E1(NM_007347.5):c.822A>G (p.(Gln274=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863891" "0" "50" "15" "51240239" "51240239" "subst" "0" "01943" "AP4E1_000055" "g.51240239T>C" "" "" "" "AP4E1(NM_001252127.1):c.974T>C (p.I325T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863892" "0" "50" "15" "51276285" "51276285" "subst" "8.14107E-6" "01943" "AP4E1_000056" "g.51276285C>T" "" "" "" "AP4E1(NM_001252127.1):c.1808C>T (p.A603V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892142" "0" "50" "15" "51240316" "51240316" "subst" "0.000886655" "02325" "AP4E1_000020" "g.51240316A>C" "" "" "" "AP4E1(NM_001252127.1):c.1051A>C (p.I351L), AP4E1(NM_007347.5):c.1276A>C (p.(Ile426Leu), p.I426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914320" "0" "50" "15" "51221276" "51221276" "subst" "0.000353486" "02325" "AP4E1_000059" "g.51221276C>A" "" "" "" "AP4E1(NM_007347.5):c.613C>A (p.H205N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914321" "0" "30" "15" "51289605" "51289605" "subst" "0.00276611" "02326" "AP4E1_000028" "g.51289605C>T" "" "" "" "AP4E1(NM_007347.4):c.2429C>T (p.T810I), AP4E1(NM_007347.5):c.2429C>T (p.T810I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914322" "0" "50" "15" "51289977" "51289977" "subst" "0" "02325" "AP4E1_000029" "g.51289977T>C" "" "" "" "AP4E1(NM_001252127.1):c.2576T>C (p.I859T), AP4E1(NM_007347.5):c.2801T>C (p.I934T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967850" "0" "90" "15" "51242056" "51242063" "del" "0" "02325" "AP4E1_000060" "g.51242056_51242063del" "" "" "" "AP4E1(NM_007347.5):c.1350_1357delAATGAATG (p.M451Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981289" "0" "50" "15" "51207689" "51207689" "subst" "0" "01804" "AP4E1_000061" "g.51207689G>A" "" "" "" "AP4E1(NM_007347.5):c.267G>A (p.(Met89Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981290" "0" "50" "15" "51221223" "51221223" "subst" "2.84409E-5" "01804" "AP4E1_000062" "g.51221223A>G" "" "" "" "AP4E1(NM_007347.5):c.560A>G (p.(Lys187Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981291" "0" "50" "15" "51233925" "51233925" "subst" "1.62791E-5" "01804" "AP4E1_000063" "g.51233925A>G" "" "" "" "AP4E1(NM_007347.5):c.1129A>G (p.(Thr377Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981292" "0" "50" "15" "51293259" "51293260" "del" "0" "01804" "AP4E1_000064" "g.51293259_51293260del" "" "" "" "AP4E1(NM_007347.5):c.3132_3133del (p.(Trp1045ValfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001513" "0" "10" "15" "51204295" "51204295" "subst" "0.00120222" "02326" "AP4E1_000007" "g.51204295G>A" "" "" "" "AP4E1(NM_007347.4):c.171G>A (p.Q57=), AP4E1(NM_007347.5):c.171G>A (p.Q57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001514" "0" "30" "15" "51223004" "51223004" "subst" "8.13087E-6" "01804" "AP4E1_000065" "g.51223004G>T" "" "" "" "AP4E1(NM_007347.4):c.705G>T (p.(Glu235Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001515" "0" "50" "15" "51242350" "51242352" "del" "0" "01804" "AP4E1_000066" "g.51242350_51242352del" "" "" "" "AP4E1(NM_007347.4):c.1532_1534delTTC (p.(Leu511del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001516" "0" "50" "15" "51276296" "51276296" "subst" "5.69801E-5" "01804" "AP4E1_000052" "g.51276296C>G" "" "" "" "AP4E1(NM_001252127.1):c.1819C>G (p.L607V), AP4E1(NM_007347.4):c.2044C>G (p.(Leu682Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040425" "0" "30" "15" "51233854" "51233854" "subst" "1.22058E-5" "01804" "AP4E1_000067" "g.51233854T>C" "" "" "" "AP4E1(NM_007347.5):c.1067-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040426" "0" "30" "15" "51291261" "51291261" "subst" "0.00409586" "01804" "AP4E1_000068" "g.51291261A>G" "" "" "" "AP4E1(NM_007347.5):c.2905-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055122" "0" "30" "15" "51223121" "51223121" "subst" "4.06349E-6" "01804" "AP4E1_000054" "g.51223121A>G" "" "" "" "AP4E1(NM_001252127.1):c.597A>G (p.Q199=), AP4E1(NM_007347.5):c.822A>G (p.(Gln274=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055123" "0" "30" "15" "51240316" "51240316" "subst" "0.000886655" "01804" "AP4E1_000020" "g.51240316A>C" "" "" "" "AP4E1(NM_001252127.1):c.1051A>C (p.I351L), AP4E1(NM_007347.5):c.1276A>C (p.(Ile426Leu), p.I426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058412" "0" "90" "15" "51285652" "51285652" "subst" "0" "00006" "AP4E1_000070" "g.51285652G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50993455G>T" "" "pathogenic" "" "0001058413" "0" "90" "15" "51240362" "51240362" "subst" "0" "00006" "AP4E1_000069" "g.51240362C>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50948165C>G" "" "pathogenic" "" ## 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 AP4E1 ## Count = 93 "{{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}}" "0000031213" "00002646" "95" "317" "5" "317" "8" "c.317+5_317+8del" "r.317_438del" "p.Glu181Glyfs*20" "?" "0000031213" "00026030" "95" "542" "5" "542" "8" "c.542+5_542+8del" "r.spl?" "p.?" "" "0000031214" "00002646" "95" "317" "5" "317" "8" "c.317+5_317+8del" "r.317_438del" "p.Glu181Glyfs*20" "?" "0000031214" "00026030" "95" "542" "5" "542" "8" "c.542+5_542+8del" "r.spl?" "p.?" "" "0000031215" "00002646" "15" "1166" "0" "1176" "0" "c.1166_1176del" "r.(?)" "p.(Pro389Glnfs*2)" "?" "0000031215" "00026030" "15" "1391" "0" "1401" "0" "c.1391_1401del" "r.(?)" "p.(Pro464Glnfs*2)" "" "0000031216" "00002646" "15" "1166" "0" "1176" "0" "c.1166_1176del" "r.(?)" "p.(Pro389Glnfs*2)" "?" "0000031216" "00026030" "15" "1391" "0" "1401" "0" "c.1391_1401del" "r.(?)" "p.(Pro464Glnfs*2)" "" "0000031221" "00002646" "55" "-153036" "0" "1091" "523" "c.-153036_1091+523del" "r.?" "p.?" "" "0000031221" "00026030" "95" "-107" "-152681" "1316" "523" "c.-152788_1316+523del" "r.?" "p.?" "" "0000031222" "00002646" "00" "-153036" "0" "1091" "523" "c.-153036_1091+523del" "r.?" "p.?" "" "0000031222" "00026030" "90" "-107" "-152681" "1316" "523" "c.-152788_1316+523del" "r.?" "p.?" "" "0000031223" "00002646" "95" "-1" "0" "1091" "523" "c.(?_-1)_1091+523del" "r.0" "p.0" "?" "0000031223" "00026030" "95" "-107" "-152681" "1316" "523" "c.-152788_1316+523del" "r.?" "p.?" "" "0000031224" "00002646" "55" "-153036" "0" "1091" "523" "c.-153036_1091+523del" "r.?" "p.?" "" "0000031224" "00026030" "95" "-107" "-152681" "1316" "523" "c.-152788_1316+523del" "r.?" "p.?" "" "0000130016" "00002646" "70" "811" "0" "812" "0" "c.811_812del" "r.(?)" "p.(Leu271Valfs*3)" "" "0000130016" "00026030" "70" "1036" "0" "1037" "0" "c.1036_1037del" "r.(?)" "p.(Leu346Valfs*3)" "" "0000244258" "00002646" "90" "-98" "-1" "3190" "0" "c.(?_-98-1)_(*1_?)del" "r.?" "p.?" "" "0000254255" "00002646" "30" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(Leu209=)" "" "0000254692" "00002646" "30" "-84" "0" "-84" "0" "c.-84A>G" "r.(?)" "p.(=)" "" "0000255296" "00002646" "30" "3029" "-18" "3029" "-18" "c.3029-18A>G" "r.(=)" "p.(=)" "" "0000256068" "00002646" "50" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.(Ile351Leu)" "" "0000256446" "00002646" "50" "1977" "0" "1977" "0" "c.1977A>G" "r.(?)" "p.(Gln659=)" "" "0000256556" "00002646" "50" "880" "0" "880" "0" "c.880A>C" "r.(?)" "p.(Thr294Pro)" "" "0000256687" "00002646" "50" "50" "0" "50" "0" "c.50A>G" "r.(?)" "p.(Tyr17Cys)" "" "0000259107" "00002646" "10" "-27" "18" "-27" "18" "c.-27+18G>A" "r.(=)" "p.(=)" "" "0000259108" "00002646" "10" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Cys88Arg)" "" "0000259109" "00002646" "10" "3162" "0" "3162" "0" "c.3162G>A" "r.(?)" "p.(Gln1054=)" "" "0000259667" "00002646" "50" "1969" "0" "1969" "0" "c.1969G>T" "r.(?)" "p.(Val657Phe)" "" "0000260124" "00002646" "90" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Trp860Ter)" "" "0000262568" "00002646" "10" "-27" "18" "-27" "18" "c.-27+18G>A" "r.(=)" "p.(=)" "" "0000262569" "00002646" "50" "811" "0" "811" "0" "c.811C>A" "r.(?)" "p.(Leu271Met)" "" "0000262570" "00002646" "10" "952" "-9" "952" "-9" "c.952-9T>C" "r.(=)" "p.(=)" "" "0000262571" "00002646" "50" "1111" "0" "1111" "0" "c.1111T>C" "r.(?)" "p.(Trp371Arg)" "" "0000262572" "00002646" "30" "1341" "0" "1341" "0" "c.1341C>G" "r.(?)" "p.(Ser447=)" "" "0000262573" "00002646" "30" "-78" "0" "-78" "0" "c.-78G>A" "r.(?)" "p.(=)" "" "0000262575" "00002646" "30" "1968" "0" "1968" "0" "c.1968T>C" "r.(?)" "p.(Pro656=)" "" "0000262576" "00002646" "30" "2204" "0" "2204" "0" "c.2204C>T" "r.(?)" "p.(Thr735Ile)" "" "0000262577" "00002646" "30" "2576" "0" "2576" "0" "c.2576T>C" "r.(?)" "p.(Ile859Thr)" "" "0000262578" "00002646" "10" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Cys88Arg)" "" "0000262579" "00002646" "10" "3162" "0" "3162" "0" "c.3162G>A" "r.(?)" "p.(Gln1054=)" "" "0000262580" "00002646" "30" "195" "9" "195" "9" "c.195+9T>C" "r.(=)" "p.(=)" "" "0000262581" "00002646" "30" "196" "-20" "196" "-20" "c.196-20T>C" "r.(=)" "p.(=)" "" "0000262582" "00002646" "50" "664" "0" "664" "0" "c.664G>T" "r.(?)" "p.(Asp222Tyr)" "" "0000262583" "00002646" "30" "951" "9" "951" "9" "c.951+9G>A" "r.(=)" "p.(=)" "" "0000324109" "00002646" "50" "491" "0" "491" "0" "c.491G>T" "r.(?)" "p.(Gly164Val)" "" "0000324110" "00002646" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Pro567Leu)" "" "0000324111" "00002646" "50" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Pro903Leu)" "" "0000348635" "00002646" "50" "2840" "0" "2840" "0" "c.2840C>G" "r.(?)" "p.(Ser947Cys)" "" "0000554743" "00002646" "30" "33" "0" "33" "0" "c.33T>C" "r.(?)" "p.(Tyr11=)" "" "0000554746" "00002646" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Ter)" "" "0000554747" "00002646" "50" "1124" "0" "1124" "0" "c.1124C>A" "r.(?)" "p.(Thr375Lys)" "" "0000554748" "00002646" "30" "1260" "0" "1260" "0" "c.1260T>C" "r.(?)" "p.(Tyr420=)" "" "0000554749" "00002646" "30" "1600" "0" "1600" "0" "c.1600G>C" "r.(?)" "p.(Val534Leu)" "" "0000554751" "00002646" "50" "2990" "0" "2990" "0" "c.2990T>A" "r.(?)" "p.(Leu997Gln)" "" "0000615394" "00002646" "50" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ile351Val)" "" "0000615395" "00002646" "50" "2873" "0" "2873" "0" "c.2873C>G" "r.(?)" "p.(Pro958Arg)" "" "0000623252" "00002646" "50" "1883" "0" "1883" "0" "c.1883T>C" "r.(?)" "p.(Leu628Pro)" "" "0000623253" "00002646" "30" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(Leu786=)" "" "0000649119" "00002646" "50" "3089" "0" "3089" "0" "c.3089G>A" "r.(?)" "p.(Arg1030Gln)" "" "0000649119" "00026030" "50" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Arg1105Gln)" "" "0000657603" "00002646" "30" "2346" "0" "2346" "0" "c.2346A>G" "r.(?)" "p.(Ser782=)" "" "0000680208" "00002646" "30" "952" "-9" "952" "-9" "c.952-9T>C" "r.(=)" "p.(=)" "" "0000680209" "00002646" "50" "1626" "2" "1626" "5" "c.1626+2_1626+5dup" "r.spl?" "p.?" "" "0000725175" "00002646" "30" "-30" "0" "-30" "0" "c.-30A>G" "r.(?)" "p.(=)" "" "0000806753" "00002646" "50" "532" "0" "532" "0" "c.532C>G" "r.(?)" "p.(Gln178Glu)" "" "0000806754" "00002646" "30" "1819" "0" "1819" "0" "c.1819C>G" "r.(?)" "p.(Leu607Val)" "" "0000806755" "00002646" "30" "2121" "10" "2121" "10" "c.2121+10C>T" "r.(=)" "p.(=)" "" "0000854075" "00002646" "30" "2445" "0" "2445" "0" "c.2445A>G" "r.(?)" "p.(Gln815=)" "" "0000854076" "00002646" "30" "2707" "0" "2707" "0" "c.2707C>T" "r.(?)" "p.(Pro903Ser)" "" "0000863890" "00002646" "30" "597" "0" "597" "0" "c.597A>G" "r.(?)" "p.(Gln199=)" "" "0000863891" "00002646" "50" "974" "0" "974" "0" "c.974T>C" "r.(?)" "p.(Ile325Thr)" "" "0000863892" "00002646" "50" "1808" "0" "1808" "0" "c.1808C>T" "r.(?)" "p.(Ala603Val)" "" "0000892142" "00002646" "50" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.(Ile351Leu)" "" "0000914320" "00002646" "50" "388" "0" "388" "0" "c.388C>A" "r.(?)" "p.(His130Asn)" "" "0000914321" "00002646" "30" "2204" "0" "2204" "0" "c.2204C>T" "r.(?)" "p.(Thr735Ile)" "" "0000914322" "00002646" "50" "2576" "0" "2576" "0" "c.2576T>C" "r.(?)" "p.(Ile859Thr)" "" "0000967850" "00002646" "90" "1125" "0" "1132" "0" "c.1125_1132del" "r.(?)" "p.(Met376Cysfs*12)" "" "0000981289" "00002646" "50" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Met14Ile)" "" "0000981290" "00002646" "50" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Lys112Arg)" "" "0000981291" "00002646" "50" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Thr302Ala)" "" "0000981292" "00002646" "50" "2907" "0" "2908" "0" "c.2907_2908del" "r.(?)" "p.(Trp970Valfs*6)" "" "0001001513" "00002646" "10" "-78" "0" "-78" "0" "c.-78G>A" "r.(?)" "p.(=)" "" "0001001514" "00002646" "30" "480" "0" "480" "0" "c.480G>T" "r.(?)" "p.(Glu160Asp)" "" "0001001515" "00002646" "50" "1307" "0" "1309" "0" "c.1307_1309del" "r.(?)" "p.(Leu436del)" "" "0001001516" "00002646" "50" "1819" "0" "1819" "0" "c.1819C>G" "r.(?)" "p.(Leu607Val)" "" "0001040425" "00002646" "30" "842" "-9" "842" "-9" "c.842-9T>C" "r.(=)" "p.(=)" "" "0001040426" "00002646" "30" "2680" "-8" "2680" "-8" "c.2680-8A>G" "r.(=)" "p.(=)" "" "0001055122" "00002646" "30" "597" "0" "597" "0" "c.597A>G" "r.(?)" "p.(Gln199=)" "" "0001055123" "00002646" "30" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.(Ile351Leu)" "" "0001058412" "00026030" "90" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726Ter)" "" "0001058413" "00026030" "90" "1316" "6" "1316" "6" "c.1316+6C>G" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000011570" "0000031213" "0000011571" "0000031214" "0000011572" "0000031215" "0000011573" "0000031216" "0000011574" "0000031221" "0000011575" "0000031222" "0000011575" "0000031223" "0000011575" "0000031224" "0000080930" "0000130016" "0000151088" "0000244258" "0000292430" "0000649119" "0000470290" "0001058412" "0000470291" "0001058413"