### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPAA1) # 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}}" "GPAA1" "glycosylphosphatidylinositol anchor attachment 1" "8" "q24.3" "unknown" "NC_000008.10" "UD_132610985415" "" "https://www.LOVD.nl/GPAA1" "" "1" "4446" "8733" "603048" "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/GPAA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-24 10:12:06" "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}}" "00008742" "GPAA1" "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)" "001" "NM_003801.3" "" "NP_003792.1" "" "" "" "-110" "1957" "1866" "145137524" "145141119" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05364" "GPIBD15" "glycosylphosphatidylinositol biosynthesis defect, type 15 (GPIBD-15)" "AR" "617810" "" "" "" "00006" "2017-12-29 14:39:07" "00006" "2021-12-10 21:51:32" "05365" "NEDHCAS" "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" "AR" "618879" "" "" "" "00006" "2017-12-29 14:39:52" "00006" "2024-07-24 10:12:34" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GPAA1" "05364" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00147023" "" "" "" "2" "" "00006" "{PMID:NGuyen 2017:29100095}" "2-generation family, sister/brother, unaffected heterozygous carrier parents" "F;M" "" "United States" "" "0" "" "" "Hispanic" "29100095-Fam1PaiII1/2" "00147024" "" "" "" "1" "" "00006" "{PMID:NGuyen 2017:29100095}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "M" "no" "United States" "" "0" "" "" "" "29100095-Fam2PatII2" "00147025" "" "" "" "2" "" "00006" "{PMID:NGuyen 2017:29100095}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Egypt" "" "0" "" "" "" "29100095-Fam3PatII2/3" "00147026" "" "" "" "3" "" "00006" "{PMID:NGuyen 2017:29100095}" "7-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29100095-Fam4PatVII1/2/3" "00147027" "" "" "" "2" "" "00006" "{PMID:NGuyen 2017:29100095}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "no" "Finland" "" "0" "" "" "" "29100095-Fam5PatVII2/4" "00318025" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "PKMR153" "00387886" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, double cousin parents" "" "yes" "" "" "0" "" "" "Azeri" "M9000103" "00430718" "" "" "" "2" "" "03312" "family, two affected homozygous patients, unaffected parents also homozygous" "" "" "yes" "Pakistan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00147023" "05365" "00147024" "05365" "00147025" "05365" "00147026" "05365" "00147027" "05365" "00318025" "00139" "00387886" "00139" "00430718" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04270, 05364, 05365 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000119740" "05365" "00147023" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000119741" "05365" "00147024" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000119742" "05365" "00147025" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000119743" "05365" "00147026" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000119744" "05365" "00147027" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000241809" "00139" "00318025" "00006" "Familial, autosomal recessive" "" "Non syndromic." "" "" "" "" "" "" "" "" "intellectual disability" "0000281454" "00139" "00387886" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147879" "00147023" "1" "00006" "00006" "2017-12-29 14:43:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147880" "00147024" "1" "00006" "00006" "2017-12-29 14:49:00" "" "" "SEQ" "DNA" "" "" "0000147881" "00147025" "1" "00006" "00006" "2017-12-29 14:54:32" "" "" "SEQ" "DNA" "" "" "0000147882" "00147026" "1" "00006" "00006" "2017-12-29 14:59:42" "" "" "SEQ" "DNA" "" "" "0000147883" "00147027" "1" "00006" "00006" "2017-12-29 15:02:49" "" "" "SEQ" "DNA" "" "" "0000319207" "00318025" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389117" "00387886" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432129" "00430718" "1" "03312" "03312" "2023-01-23 07:29:33" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000147879" "GPAA1" "0000147880" "GPAA1" "0000147881" "GPAA1" "0000147882" "GPAA1" "0000147883" "GPAA1" "0000319207" "GPAA1" "0000389117" "GPAA1" "0000432129" "GPAA1" ## 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 = 30 "{{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}}" "0000241131" "11" "90" "8" "145139374" "145139374" "subst" "0" "00006" "GPAA1_000001" "g.145139374T>C" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144084471T>C" "" "pathogenic" "" "0000241132" "21" "90" "8" "145139483" "145139495" "del" "0" "00006" "GPAA1_000002" "g.145139483_145139495del" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144084580_144084592del" "" "pathogenic" "" "0000241133" "21" "90" "8" "145138104" "145138104" "subst" "0" "00006" "GPAA1_000003" "g.145138104C>T" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "" "" "0" "" "" "g.144083201C>T" "" "pathogenic" "" "0000241134" "11" "90" "8" "145139783" "145139783" "subst" "1.22155E-5" "00006" "GPAA1_000004" "g.145139783C>T" "" "{PMID:NGuyen 2017:29100095}" "" "" "reduced mRNA expression LCLs" "Germline" "" "" "0" "" "" "g.144084880C>T" "" "pathogenic" "" "0000241135" "11" "90" "8" "145139422" "145139422" "del" "0" "00006" "GPAA1_000005" "g.145139422del" "" "{PMID:NGuyen 2017:29100095}" "" "920delG" "" "Germline" "yes" "" "0" "" "" "g.144084519del" "" "pathogenic" "" "0000241136" "21" "90" "8" "145139946" "145139946" "subst" "0" "00006" "GPAA1_000006" "g.145139946G>C" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144085043G>C" "" "pathogenic" "" "0000241137" "3" "90" "8" "145138854" "145138854" "subst" "2.03052E-5" "00006" "GPAA1_000007" "g.145138854G>C" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144083951G>C" "" "pathogenic" "" "0000241138" "11" "90" "8" "145139371" "145139371" "subst" "4.0704E-6" "00006" "GPAA1_000008" "g.145139371T>C" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144084468T>C" "" "pathogenic" "" "0000241139" "21" "90" "8" "145138112" "145138113" "del" "0" "00006" "GPAA1_000009" "g.145138112_145138113delinsAA" "" "{PMID:NGuyen 2017:29100095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144083209_144083210delinsAA" "" "pathogenic" "" "0000534172" "0" "30" "8" "145139325" "145139325" "subst" "0.00901181" "01804" "EXOSC4_000001" "g.145139325G>C" "" "" "" "GPAA1(NM_003801.3):c.823G>C (p.(Glu275Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144084422G>C" "" "likely benign" "" "0000534173" "0" "30" "8" "145139335" "145139335" "subst" "4.48947E-5" "01943" "EXOSC4_000002" "g.145139335C>T" "" "" "" "GPAA1(NM_003801.4):c.833C>T (p.T278I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144084432C>T" "" "likely benign" "" "0000534174" "0" "70" "8" "145140501" "145140502" "del" "0.000126114" "02327" "EXOSC4_000003" "g.145140501_145140502del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144085598_144085599del" "" "likely pathogenic" "" "0000534176" "0" "50" "8" "145140645" "145140645" "subst" "0" "01943" "GPAA1_000013" "g.145140645C>T" "" "" "" "GPAA1(NM_003801.4):c.1621C>T (p.R541W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144085742C>T" "" "VUS" "" "0000534177" "0" "30" "8" "145140649" "145140649" "subst" "0.000450016" "01804" "GPAA1_000014" "g.145140649A>G" "" "" "" "GPAA1(NM_003801.3):c.1622+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144085746A>G" "" "likely benign" "" "0000690203" "0" "70" "8" "145138854" "145138854" "subst" "2.03052E-5" "02327" "GPAA1_000007" "g.145138854G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690204" "0" "30" "8" "145139325" "145139325" "subst" "3.26811E-5" "01943" "EXOSC4_000004" "g.145139325G>A" "" "" "" "GPAA1(NM_003801.4):c.823G>A (p.E275K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701871" "3" "50" "8" "145138854" "145138854" "subst" "2.03052E-5" "00006" "GPAA1_000007" "g.145138854G>C" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.144083951G>C" "" "VUS" "" "0000721849" "0" "30" "8" "145138022" "145138022" "subst" "0.000386383" "02325" "GPAA1_000010" "g.145138022C>T" "" "" "" "GPAA1(NM_003801.4):c.75-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803527" "0" "30" "8" "145137723" "145137723" "subst" "0.00192248" "02326" "EXOSC4_000005" "g.145137723G>T" "" "" "" "GPAA1(NM_003801.4):c.74+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817910" "3" "70" "8" "145139698" "145139698" "subst" "0" "00006" "GPAA1_000015" "g.145139698C>T" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.144084795C>T" "" "likely pathogenic (recessive)" "" "0000917490" "3" "50" "8" "145139945" "145139945" "subst" "7.97154E-5" "03312" "GPAA1_000016" "g.145139945C>T" "" "" "" "" "Two affected patients have this homozygous variant. However, the parents are also homozygous for the same variant and are not known to have had symptoms of epilepsy. ACMG classifies the variant as pathogenic. SNP genotyping did not identify a chromsomal region where only affected indivdiuals are homozygous." "Germline" "no" "" "0" "" "" "g.144085042C>T" "VCV001394986.2" "pathogenic" "ACMG" "0000978117" "0" "50" "8" "145139434" "145139434" "subst" "3.25182E-5" "01804" "EXOSC4_000007" "g.145139434G>A" "" "" "" "GPAA1(NM_003801.4):c.932G>A (p.(Arg311His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978118" "0" "50" "8" "145140818" "145140818" "subst" "0" "01804" "GPAA1_000017" "g.145140818C>G" "" "" "" "GPAA1(NM_003801.4):c.1656C>G (p.(Ser552Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997047" "0" "50" "8" "145139669" "145139669" "subst" "4.0663E-6" "01804" "EXOSC4_000008" "g.145139669G>A" "" "" "" "GPAA1(NM_003801.3):c.1055G>A (p.(Arg352His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036835" "0" "50" "8" "145138862" "145138862" "subst" "0" "01804" "EXOSC4_000009" "g.145138862G>A" "" "" "" "GPAA1(NM_003801.4):c.535G>A (p.(Asp179Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036836" "0" "30" "8" "145139049" "145139049" "subst" "0.00102435" "02326" "EXOSC4_000010" "g.145139049C>T" "" "" "" "GPAA1(NM_003801.4):c.629C>T (p.S210F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036837" "0" "30" "8" "145139748" "145139748" "subst" "0.0010655" "02326" "EXOSC4_000011" "g.145139748C>T" "" "" "" "GPAA1(NM_003801.4):c.1134C>T (p.V378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036838" "0" "50" "8" "145140209" "145140209" "subst" "1.25365E-5" "01804" "EXOSC4_000012" "g.145140209G>A" "" "" "" "GPAA1(NM_003801.4):c.1278G>A (p.(Ser426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036839" "0" "50" "8" "145140584" "145140584" "subst" "1.62587E-5" "01804" "GPAA1_000018" "g.145140584G>A" "" "" "" "GPAA1(NM_003801.4):c.1560G>A (p.(Leu520=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053160" "0" "50" "8" "145140888" "145140888" "subst" "0.000174866" "01804" "GPAA1_000019" "g.145140888G>A" "" "" "" "GPAA1(NM_003801.4):c.1726G>A (p.(Glu576Lys))" "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 GPAA1 ## Count = 30 "{{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}}" "0000241131" "00008742" "90" "872" "0" "872" "0" "c.872T>C" "r.(?)" "p.(Leu291Pro)" "" "0000241132" "00008742" "90" "981" "0" "993" "0" "c.981_993del" "r.(?)" "p.(Gln327Hisfs*102)" "" "0000241133" "00008742" "90" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ser51Leu)" "" "0000241134" "00008742" "90" "1164" "5" "1164" "5" "c.1164+5C>T" "r.spl?" "p.?" "" "0000241135" "00008742" "90" "920" "0" "920" "0" "c.920del" "r.(?)" "p.(Gly307Alafs*11)" "" "0000241136" "00008742" "90" "1165" "0" "1165" "0" "c.1165G>C" "r.(?)" "p.(Ala389Pro)" "" "0000241137" "00008742" "90" "527" "0" "527" "0" "c.527G>C" "r.(?)" "p.(Trp176Ser)" "" "0000241138" "00008742" "90" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Leu290Pro)" "" "0000241139" "00008742" "90" "160" "0" "161" "0" "c.160_161delinsAA" "r.(?)" "p.(Ala54Asn)" "" "0000534172" "00008742" "30" "823" "0" "823" "0" "c.823G>C" "r.(?)" "p.(Glu275Gln)" "" "0000534173" "00008742" "30" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Ile)" "" "0000534174" "00008742" "70" "1477" "0" "1478" "0" "c.1477_1478del" "r.(?)" "p.(Arg493GlyfsTer152)" "" "0000534176" "00008742" "50" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Trp)" "" "0000534177" "00008742" "30" "1622" "3" "1622" "3" "c.1622+3A>G" "r.spl?" "p.?" "" "0000690203" "00008742" "70" "527" "0" "527" "0" "c.527G>C" "r.(?)" "p.(Trp176Ser)" "" "0000690204" "00008742" "30" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Glu275Lys)" "" "0000701871" "00008742" "50" "527" "0" "527" "0" "c.527G>C" "r.(?)" "p.(Trp176Ser)" "" "0000721849" "00008742" "30" "75" "-5" "75" "-5" "c.75-5C>T" "r.spl?" "p.?" "" "0000803527" "00008742" "30" "74" "16" "74" "16" "c.74+16G>T" "r.(=)" "p.(=)" "" "0000817910" "00008742" "70" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Leu362Phe)" "" "0000917490" "00008742" "50" "1165" "-1" "1165" "-1" "c.1165-1C>T" "r.spl" "p.?" "" "0000978117" "00008742" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311His)" "" "0000978118" "00008742" "50" "1656" "0" "1656" "0" "c.1656C>G" "r.(?)" "p.(Ser552Arg)" "" "0000997047" "00008742" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352His)" "" "0001036835" "00008742" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Asp179Asn)" "" "0001036836" "00008742" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ser210Phe)" "" "0001036837" "00008742" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(=)" "" "0001036838" "00008742" "50" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(=)" "" "0001036839" "00008742" "50" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(=)" "" "0001053160" "00008742" "50" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Glu576Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000147879" "0000241131" "0000147879" "0000241132" "0000147880" "0000241133" "0000147880" "0000241134" "0000147881" "0000241135" "0000147881" "0000241136" "0000147882" "0000241137" "0000147883" "0000241138" "0000147883" "0000241139" "0000319207" "0000701871" "0000389117" "0000817910" "0000432129" "0000917490"