### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UGP2) # 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}}" "UGP2" "UDP-glucose pyrophosphorylase 2" "2" "p14-p13" "unknown" "NC_000002.11" "UD_132464395696" "" "https://www.LOVD.nl/UGP2" "" "1" "12527" "7360" "191760" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/UGP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-15 19:41:16" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022337" "UGP2" "transcript variant 1" "002" "NM_006759.3" "" "NP_006750.3" "" "" "" "-306" "1862" "1527" "64069014" "64118696" "" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "05774" "EIEE83" "encephalopathy, epileptic, early infantile, type 83 (EIEE83)" "AR" "618744" "" "" "" "00006" "2020-06-15 19:42:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UGP2" "05774" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00303527" "" "" "" "1" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Fam1" "00303528" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Canada" "" "0" "" "" "India" "Fam2" "00303529" "" "" "" "1" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "India" "Fam3" "00303530" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Oman" "" "0" "" "" "Pakistan" "Fam4" "00303531" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam5" "00303532" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam6" "00303533" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "Fam7" "00303534" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "Fam8" "00303535" "" "" "" "1" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Arab Emirates" "" "0" "" "" "" "Fam9" "00303536" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam10" "00303537" "" "" "" "5" "" "00006" "{PMID:Perenthaler 2020:31820119}" "5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "Fam11" "00303538" "" "" "" "2" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "" "India" "" "0" "" "" "" "Fam12" "00303539" "" "" "" "3" "" "00006" "{PMID:Perenthaler 2020:31820119}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam13" "00426166" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "11MS2000" "00460913" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00303527" "00841" "00303528" "00841" "00303529" "00841" "00303530" "00841" "00303531" "00841" "00303532" "00841" "00303533" "00841" "00303534" "00841" "00303535" "00841" "00303536" "00841" "00303537" "00841" "00303538" "00841" "00303539" "00841" "00426166" "00139" "00460913" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00841, 05774 ## Count = 14 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000230603" "00841" "00303527" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230604" "00841" "00303528" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230605" "00841" "00303529" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230606" "00841" "00303530" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230607" "00841" "00303531" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230608" "00841" "00303532" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230609" "00841" "00303533" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230610" "00841" "00303534" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230611" "00841" "00303535" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230612" "00841" "00303536" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230613" "00841" "00303537" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230614" "00841" "00303538" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000230615" "00841" "00303539" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EIEE83" "epileptic encephalopathy" "" "0000317316" "00139" "00426166" "00006" "Familial, autosomal recessive" "4y" "" "" "" "" "" "" "" "" "" "" "DEE83" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304655" "00303527" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304656" "00303528" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304657" "00303529" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304658" "00303530" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304659" "00303531" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304660" "00303532" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304661" "00303533" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304662" "00303534" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304663" "00303535" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304664" "00303536" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304665" "00303537" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ" "DNA" "" "" "0000304666" "00303538" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304667" "00303539" "1" "00006" "00006" "2020-06-15 19:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427486" "00426166" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462545" "00460913" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000304655" "UGP2" "0000304656" "UGP2" "0000304657" "UGP2" "0000304658" "UGP2" "0000304659" "UGP2" "0000304660" "UGP2" "0000304661" "UGP2" "0000304662" "UGP2" "0000304663" "UGP2" "0000304664" "UGP2" "0000304665" "UGP2" "0000304666" "UGP2" "0000304667" "UGP2" "0000462545" "UGP2" ## 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 = 20 "{{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}}" "0000516578" "0" "50" "2" "64083454" "64083454" "subst" "5.72836E-5" "01943" "UGP2_000002" "g.64083454A>G" "" "" "" "UGP2(NM_001001521.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63856320A>G" "" "VUS" "" "0000654708" "0" "70" "2" "64083454" "64083454" "subst" "5.72836E-5" "02327" "UGP2_000002" "g.64083454A>G" "" "" "" "UGP2(NM_001001521.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63856320A>G" "" "likely pathogenic" "" "0000668153" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668154" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668155" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668156" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668157" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668158" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668159" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668160" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668161" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668162" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668163" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668164" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000668165" "3" "90" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Perenthaler 2020:31820119}" "" "NM_001001521.1:c.1A>G (p.0?)" "" "Germline" "" "" "0" "" "" "g.63856320A>G" "" "pathogenic (recessive)" "" "0000718924" "0" "30" "2" "64083552" "64083552" "subst" "4.09336E-6" "01943" "UGP2_000003" "g.64083552A>G" "" "" "" "UGP2(NM_006759.3):c.132A>G (p.S44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904846" "3" "70" "2" "64083454" "64083454" "subst" "5.72836E-5" "00006" "UGP2_000002" "g.64083454A>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001001521.2:c.1A>G (Met1Val)" "" "Germline" "" "rs768305634" "0" "" "" "g.63856320A>G" "VCV000805980.8" "likely pathogenic (recessive)" "" "0000975391" "0" "30" "2" "64084679" "64084679" "dup" "0" "01804" "UGP2_000004" "g.64084679dup" "" "" "" "UGP2(NM_001377526.1):c.-382-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022072" "0" "70" "2" "64083454" "64083454" "subst" "5.72836E-5" "04796" "UGP2_000002" "g.64083454A>G" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.63856320A>G" "" "likely pathogenic" "" "0001033436" "0" "50" "2" "64114781" "64114781" "subst" "8.95357E-5" "01804" "UGP2_000005" "g.64114781A>G" "" "" "" "UGP2(NM_006759.4):c.1314+3A>G" "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 UGP2 ## Count = 20 "{{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}}" "0000516578" "00022337" "50" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000654708" "00022337" "70" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668153" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668154" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668155" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668156" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668157" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668158" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668159" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668160" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668161" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668162" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668163" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668164" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000668165" "00022337" "90" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000718924" "00022337" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Ser44=)" "" "0000904846" "00022337" "70" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Met12Val)" "" "0000975391" "00022337" "30" "148" "-284" "148" "-284" "c.148-284dup" "r.(=)" "p.(=)" "" "0001022072" "00022337" "70" "34" "0" "34" "0" "c.34A>G" "r.34A>G" "p.Met12Val" "2" "0001033436" "00022337" "50" "1314" "3" "1314" "3" "c.1314+3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000304655" "0000668153" "0000304656" "0000668154" "0000304657" "0000668155" "0000304658" "0000668156" "0000304659" "0000668157" "0000304660" "0000668158" "0000304661" "0000668159" "0000304662" "0000668160" "0000304663" "0000668161" "0000304664" "0000668162" "0000304665" "0000668163" "0000304666" "0000668164" "0000304667" "0000668165" "0000427486" "0000904846" "0000462545" "0001022072"