### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALG11) # 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}}" "ALG11" "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)" "13" "q14.3" "unknown" "NG_028038.1" "UD_132118764816" "" "https://www.LOVD.nl/ALG11" "" "1" "32456" "440138" "613666" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ALG11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-10-25 00:00:00" "00006" "2017-06-29 15:30:48" "00006" "2025-11-13 13:04:16" ## 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}}" "00002378" "ALG11" "transcript variant A" "002" "NM_001004127.2" "" "NP_001004127.2" "" "" "" "-32" "2533" "1479" "52586523" "52603780" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03383" "CDG1P" "glycosylation, congenital disorder of, type IP (CDG-1P)" "AR" "613661" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "ALG11" "03383" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00117866" "" "" "" "1" "" "00783" "{PMID:Rind 2010:20080937}" "" "F" "" "" "" "0" "" "" "" "" "00117867" "" "" "" "1" "" "00783" "submitted" "" "F" "" "" "" "0" "" "" "" "" "00117868" "" "" "" "1" "" "00783" "submitted" "" "M" "" "" "" "0" "" "" "" "" "00117869" "" "" "" "1" "" "00783" "submitted" "" "F" "" "" "" "0" "" "" "" "" "00183049" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio16" "00290953" "" "" "" "257" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304412" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304413" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00468604" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468605" "" "" "" "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 = 10 "{{individualid}}" "{{diseaseid}}" "00117866" "03383" "00117867" "03383" "00117868" "03383" "00117869" "03383" "00183049" "00139" "00290953" "00198" "00304412" "00198" "00304413" "00198" "00468604" "00198" "00468605" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03383 ## Count = 7 "{{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}}" "0000093254" "03383" "00117866" "00783" "Familial, autosomal recessive" "" "unremarkable prenatal and neonatal period, fat pads, hypotonia, deafness, oscillation of body temperature, developmental delay, mental retardation, epilepsy, strabismus convergens" "" "" "" "" "" "" "" "" "" "" "" "0000093255" "03383" "00117867" "00783" "Unknown" "" "unremarkable prenatal and neonatal period, hypotonia, hypertonia, developmental delay, mental retardation, epilepsy, strabismus convergens" "" "" "" "" "" "" "" "" "" "" "" "0000093256" "03383" "00117868" "00783" "Unknown" "" "unremarkable prenatal and neonatal period, developmental delay, mental retardation, epilepsy, strabismus convergens" "" "" "" "" "" "" "" "" "" "" "" "0000093257" "03383" "00117869" "00783" "Unknown" "" "unremarkable prenatal and neonatal period, fat pads, hypotonia, hypertonia, oscillation of body temperature, developmental delay, mental retardation, epilepsy, strabismus convergens" "" "" "" "" "" "" "" "" "" "" "" "0000143802" "00139" "00183049" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000353757" "00198" "00468604" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" "0000353758" "00198" "00468605" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118329" "00117866" "1" "00783" "00783" "2011-11-09 12:09:27" "00006" "2011-11-11 14:55:53" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118330" "00117867" "1" "00783" "00783" "2011-11-09 12:17:38" "00006" "2011-11-11 14:58:41" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118331" "00117868" "1" "00783" "00783" "2011-11-09 12:29:59" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118332" "00117869" "1" "00783" "00783" "2011-11-09 12:26:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000184009" "00183049" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292121" "00290953" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305541" "00304412" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305542" "00304413" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000470272" "00468604" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470273" "00468605" "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 = 4 "{{screeningid}}" "{{geneid}}" "0000118329" "ALG11" "0000118330" "ALG11" "0000118331" "ALG11" "0000118332" "ALG11" ## 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 = 31 "{{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}}" "0000194423" "3" "90" "13" "52593261" "52593261" "subst" "0" "00783" "ALG11_000001" "g.52593261T>C" "" "{PMID:Rind 2010:20080937}" "" "" "" "Germline" "" "" "0" "" "" "g.52019125T>C" "" "pathogenic" "" "0000194424" "0" "50" "13" "52598489" "52598508" "del" "0" "00783" "ALG11_000002" "g.52598489_52598508del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024353_52024372del" "" "VUS" "" "0000194425" "0" "90" "13" "52598702" "52598702" "subst" "0" "00783" "ALG11_000003" "g.52598702A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024566A>C" "" "pathogenic" "" "0000194426" "3" "90" "13" "52598819" "52598819" "subst" "0" "00783" "ALG11_000006" "g.52598819A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024683A>C" "" "pathogenic" "" "0000194427" "0" "90" "13" "52599008" "52599008" "subst" "0" "00783" "ALG11_000004" "g.52599008T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024872T>C" "" "pathogenic" "" "0000194428" "0" "90" "13" "52599058" "52599058" "subst" "0" "00783" "ALG11_000005" "g.52599058G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024922G>A" "" "pathogenic" "" "0000252454" "0" "70" "13" "52585881" "52585881" "subst" "0" "02326" "ATP7B_000128" "g.52585881A>G" "" "" "" "ATP7B(NM_000053.4):c.-408T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011745A>G" "" "likely pathogenic" "" "0000259558" "0" "30" "13" "52585445" "52585445" "subst" "0" "02325" "ATP7B_000126" "g.52585445G>A" "" "" "" "ATP7B(NM_000053.4):c.29C>T (p.A10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011309G>A" "" "likely benign" "" "0000260760" "0" "90" "13" "52598345" "52598345" "subst" "2.03051E-5" "02326" "ALG11_000007" "g.52598345G>T" "" "" "" "ALG11(NM_001004127.2):c.479G>T (p.G160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52024209G>T" "" "pathogenic" "" "0000261218" "0" "10" "13" "52585548" "52585548" "subst" "0" "02326" "ATP7B_000127" "g.52585548G>T" "" "" "" "ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011412G>T" "" "benign" "" "0000261280" "0" "90" "13" "52585419" "52585419" "subst" "1.62492E-5" "02326" "ATP7B_000125" "g.52585419T>A" "" "" "" "ATP7B(NM_000053.4):c.51+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011283T>A" "" "pathogenic" "" "0000263360" "0" "10" "13" "52585548" "52585548" "subst" "0" "01943" "ATP7B_000127" "g.52585548G>T" "" "" "" "ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011412G>T" "" "benign" "" "0000407980" "0" "50" "13" "52603300" "52603302" "del" "0" "00006" "ALG11_000009" "g.52603300_52603302del" "" "{PMID:de Ligt 2012:23033978}" "" "NM_021645.5:c.358_360del (Asn120del)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.52029164_52029166del" "" "VUS" "" "0000551013" "0" "90" "13" "52585455" "52585456" "del" "0" "02327" "ATP7B_000131" "g.52585455_52585456del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52011319_52011320del" "" "pathogenic" "" "0000551014" "0" "10" "13" "52585548" "52585548" "subst" "0" "02327" "ATP7B_000127" "g.52585548G>T" "" "" "" "ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52011412G>T" "" "benign" "" "0000551015" "0" "30" "13" "52586580" "52586580" "subst" "8.12982E-6" "01804" "ALG11_000010" "g.52586580G>C" "" "" "" "ALG11(NM_001004127.2):c.26G>C (p.(Cys9Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52012444G>C" "" "likely benign" "" "0000551016" "0" "30" "13" "52603217" "52603217" "subst" "0.00064568" "01804" "ALG11_000011" "g.52603217G>A" "" "" "" "UTP14C(NM_021645.5):c.277G>A (p.(Val93Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52029081G>A" "" "likely benign" "" "0000648810" "1" "30" "13" "52586922" "52586922" "subst" "0" "03575" "ALG11_000014" "g.52586922T>C" "257/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "257 heterozygous; {DB:CLININrs77505745}" "Germline" "" "rs77505745" "0" "" "" "g.52012786T>C" "" "likely benign" "" "0000669229" "3" "30" "13" "52586922" "52586922" "subst" "0" "03575" "ALG11_000014" "g.52586922T>C" "12/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 homozygous; {DB:CLININrs77505745}" "Germline" "" "rs77505745" "0" "" "" "g.52012786T>C" "" "likely benign" "" "0000669230" "3" "30" "13" "52598973" "52598973" "subst" "0.000865052" "03575" "ALG11_000015" "g.52598973T>C" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs146432805}" "Germline" "" "rs146432805" "0" "" "" "g.52024837T>C" "" "likely benign" "" "0000679836" "0" "50" "13" "52598272" "52598272" "subst" "0.0002356" "01943" "ALG11_000016" "g.52598272C>T" "" "" "" "ALG11(NM_001004127.2):c.406C>T (p.R136C, p.(Arg136Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679837" "0" "70" "13" "52598753" "52598753" "del" "0" "01943" "ALG11_000017" "g.52598753del" "" "" "" "ALG11(NM_001004127.2):c.887delA (p.K296Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679838" "0" "30" "13" "52598895" "52598895" "subst" "2.84384E-5" "01943" "ALG11_000018" "g.52598895A>G" "" "" "" "ALG11(NM_001004127.2):c.1029A>G (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691559" "0" "50" "13" "52599019" "52599019" "subst" "0" "01943" "ALG11_000019" "g.52599019T>G" "" "" "" "ALG11(NM_001004127.2):c.1153T>G (p.L385V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853697" "0" "90" "13" "52585419" "52585419" "subst" "1.62492E-5" "02325" "ATP7B_000125" "g.52585419T>A" "" "" "" "ATP7B(NM_000053.4):c.51+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863403" "0" "50" "13" "52602467" "52602467" "subst" "2.87163E-5" "01943" "ALG11_000020" "g.52602467G>T" "" "" "" "ALG11(NM_001004127.2):c.1220G>T (p.C407F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980705" "0" "50" "13" "52598272" "52598272" "subst" "0.0002356" "01804" "ALG11_000016" "g.52598272C>T" "" "" "" "ALG11(NM_001004127.2):c.406C>T (p.R136C, p.(Arg136Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039730" "0" "50" "13" "52598813" "52598813" "subst" "0" "01804" "ALG11_000021" "g.52598813C>G" "" "" "" "ALG11(NM_001004127.3):c.947C>G (p.(Pro316Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054678" "0" "50" "13" "52593047" "52593047" "subst" "0" "01804" "ALG11_000022" "g.52593047A>G" "" "" "" "ALG11(NM_001004127.3):c.45-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058394" "0" "70" "13" "52602649" "52602649" "subst" "0" "00006" "ALG11_000024" "g.52602649C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.52028513C>T" "" "likely pathogenic" "" "0001058395" "0" "70" "13" "52598636" "52598636" "subst" "0" "00006" "ALG11_000023" "g.52598636A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.52024500A>G" "" "likely 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 ALG11 ## Count = 31 "{{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}}" "0000194423" "00002378" "90" "257" "0" "257" "0" "c.257T>C" "r.257u>c" "p.Leu86Ser" "2" "0000194424" "00002378" "50" "623" "0" "642" "0" "c.623_642del" "r.623_642del" "p.(Ser208Tyrfs*4)" "3" "0000194425" "00002378" "90" "836" "0" "836" "0" "c.836A>C" "r.836a>c" "p.Tyr279Ser" "3" "0000194426" "00002378" "90" "953" "0" "953" "0" "c.953A>C" "r.953a>c" "p.Gln318Pro" "3" "0000194427" "00002378" "90" "1142" "0" "1142" "0" "c.1142T>C" "r.1142u>c" "p.Leu381Ser" "3" "0000194428" "00002378" "90" "1192" "0" "1192" "0" "c.1192G>A" "r.1192g>a" "p.Glu398Lys" "3" "0000252454" "00002378" "70" "-674" "0" "-674" "0" "c.-674A>G" "r.(?)" "p.(=)" "" "0000259558" "00002378" "30" "-1110" "0" "-1110" "0" "c.-1110G>A" "r.(?)" "p.(=)" "" "0000260760" "00002378" "90" "479" "0" "479" "0" "c.479G>T" "r.(?)" "p.(Gly160Val)" "" "0000261218" "00002378" "10" "-1007" "0" "-1007" "0" "c.-1007G>T" "r.(?)" "p.(=)" "" "0000261280" "00002378" "90" "-1136" "0" "-1136" "0" "c.-1136T>A" "r.(?)" "p.(=)" "" "0000263360" "00002378" "10" "-1007" "0" "-1007" "0" "c.-1007G>T" "r.(?)" "p.(=)" "" "0000407980" "00002378" "00" "2053" "0" "2055" "0" "c.*574_*576del" "r.(=)" "p.(=)" "" "0000551013" "00002378" "90" "-1100" "0" "-1099" "0" "c.-1100_-1099del" "r.(?)" "p.(=)" "" "0000551014" "00002378" "10" "-1007" "0" "-1007" "0" "c.-1007G>T" "r.(?)" "p.(=)" "" "0000551015" "00002378" "30" "26" "0" "26" "0" "c.26G>C" "r.(?)" "p.(Cys9Ser)" "" "0000551016" "00002378" "30" "1970" "0" "1970" "0" "c.*491G>A" "r.(=)" "p.(=)" "" "0000648810" "00002378" "30" "44" "324" "44" "324" "c.44+324T>C" "r.(=)" "p.(=)" "" "0000669229" "00002378" "30" "44" "324" "44" "324" "c.44+324T>C" "r.(=)" "p.(=)" "" "0000669230" "00002378" "30" "1107" "0" "1107" "0" "c.1107T>C" "r.(=)" "p.(=)" "" "0000679836" "00002378" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "" "0000679837" "00002378" "70" "887" "0" "887" "0" "c.887del" "r.(?)" "p.(Lys296ArgfsTer2)" "" "0000679838" "00002378" "30" "1029" "0" "1029" "0" "c.1029A>G" "r.(?)" "p.(Gly343=)" "" "0000691559" "00002378" "50" "1153" "0" "1153" "0" "c.1153T>G" "r.(?)" "p.(Leu385Val)" "" "0000853697" "00002378" "90" "-1136" "0" "-1136" "0" "c.-1136T>A" "r.(?)" "p.(=)" "" "0000863403" "00002378" "50" "1220" "0" "1220" "0" "c.1220G>T" "r.(?)" "p.(Cys407Phe)" "" "0000980705" "00002378" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "" "0001039730" "00002378" "50" "947" "0" "947" "0" "c.947C>G" "r.(?)" "p.(Pro316Arg)" "" "0001054678" "00002378" "50" "45" "-2" "45" "-2" "c.45-2A>G" "r.spl?" "p.?" "" "0001058394" "00002378" "70" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Cys)" "" "0001058395" "00002378" "70" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Asn257Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000118329" "0000194423" "0000118330" "0000194424" "0000118330" "0000194425" "0000118331" "0000194426" "0000118332" "0000194427" "0000118332" "0000194428" "0000184009" "0000407980" "0000292121" "0000648810" "0000305541" "0000669229" "0000305542" "0000669230" "0000470272" "0001058394" "0000470273" "0001058395"