### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2B2) # 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}}" "EIF2B2" "eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa" "14" "q24.3" "unknown" "NG_013333.1" "UD_132118486837" "" "https://www.LOVD.nl/EIF2B2" "" "1" "3258" "8892" "606454" "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/EIF2B2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-02-17 17:36:59" "00000" "2021-09-17 14:40:49" ## 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}}" "00006969" "EIF2B2" "eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa" "001" "NM_014239.3" "" "NP_055054.1" "" "" "" "-82" "1459" "1056" "75469612" "75476294" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "02470" "VWM" "leukoencephalopathy with vanishing white matter (VWM)" "AR" "603896" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05217" "NDHSAL" "neurodevelopmental disorder with hypotonia, seizures, absent language (NDHSAL)" "AD" "617268" "" "" "" "00006" "2017-01-23 07:22:30" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EIF2B2" "02470" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00095914" "" "" "" "1" "" "00006" "{PMID:Berko 2017:27389779}, {DOI:Berko 2017:10.1136/jmedgenet-2016-103943}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "" "00225528" "" "" "" "1" "" "00233" "{PMID:22285377 abstract:22285377}" "" "" "" "" "" "0" "" "" "" "" "00225529" "" "" "" "1" "" "00233" "{PMID:21484434 abstract:21484434}" "" "" "" "" "" "0" "" "" "" "" "00225530" "" "" "" "1" "" "00233" "{PMID:22729508 abstract:22729508}" "" "" "" "" "" "0" "" "" "" "" "00225531" "" "" "" "1" "" "00233" "{PMID:12707859 abstract:12707859}" "" "" "" "" "" "0" "" "" "" "" "00225532" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225533" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225534" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225535" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225536" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225537" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00374308" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2179" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00095914" "05217" "00225528" "02470" "00225529" "02470" "00225530" "02470" "00225531" "02470" "00225532" "02470" "00225533" "02470" "00225534" "02470" "00225535" "02470" "00225536" "02470" "00225537" "02470" "00374308" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02470, 05217 ## Count = 12 "{{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}}" "0000074197" "05217" "00095914" "00006" "Isolated (sporadic)" "06y" "developmental delay (HP:0001263), intellectual disability (HP:0001249), no autism (-HP:0000717), hypotonia (HP:0001252), sit unable, walk unable, EEG multifocal and generalised epileptiform and slow spike-wave discharges with diffuse background slowing, self-stimulatory rocking, sucking on fingers, choreiform movements, optic atrophy, cortical visual impairment, MRI-brain progressive cerebral atrophy with mild cerebellar loss, atrophy of visual pathways, several small arachnoid cysts G-tube fed, gastroparesis, constipation, hypotonic facies, highly arched palate, gracile bones, mild osteopenia throughout with no definite dysplasia, cardiomyopathy started prenatally, heart block, prolonged QT interval" "" "" "" "" "" "" "" "" "" "" "" "0000170642" "02470" "00225528" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170643" "02470" "00225529" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170644" "02470" "00225530" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170645" "02470" "00225531" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170646" "02470" "00225532" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170647" "02470" "00225533" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170648" "02470" "00225534" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170649" "02470" "00225535" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170650" "02470" "00225536" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170651" "02470" "00225537" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000269518" "00198" "00374308" "00006" "Familial, autosomal recessive" "" "MRI of brain was suggestive of cystic leukoencephalopathy features suggestive of megalencephalic leukoencephalopathy or RNAase T2 deficiency cystic leukoencephalopathy" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000096315" "00095914" "1" "00006" "00006" "2017-01-23 07:46:04" "00006" "2017-01-23 08:40:57" "SEQ;SEQ-NG" "DNA" "" "" "0000226607" "00225528" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226608" "00225529" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226609" "00225530" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226610" "00225531" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226611" "00225532" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226612" "00225533" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226613" "00225534" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226614" "00225535" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226615" "00225536" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000226616" "00225537" "1" "00233" "00000" "2012-08-09 15:19:51" "" "" "SEQ" "DNA" "" "" "0000375502" "00374308" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000096315" "EIF2B2" "0000096315" "HECW2" "0000226607" "EIF2B2" "0000226608" "EIF2B2" "0000226609" "EIF2B2" "0000226610" "EIF2B2" "0000226611" "EIF2B2" "0000226612" "EIF2B2" "0000226613" "EIF2B2" "0000226614" "EIF2B2" "0000226615" "EIF2B2" "0000226616" "EIF2B2" "0000375502" "EIF2B2" ## 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 = 23 "{{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}}" "0000158307" "0" "90" "14" "75472570" "75472570" "subst" "0.000251783" "00006" "EIF2B2_000006" "g.75472570G>T" "" "{PMID:Berko 2017:27389779}, {DOI:Berko 2017:10.1136/jmedgenet-2016-103943}" "" "" "" "Germline" "" "" "0" "" "" "g.75005867G>T" "" "pathogenic" "" "0000276034" "0" "30" "14" "75469808" "75469808" "subst" "0" "01943" "EIF2B2_000017" "g.75469808C>T" "" "" "" "EIF2B2(NM_014239.3):c.115C>T (p.L39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75003105C>T" "" "likely benign" "" "0000276035" "0" "30" "14" "75470349" "75470349" "subst" "0.00185575" "01943" "EIF2B2_000018" "g.75470349C>T" "" "" "" "EIF2B2(NM_014239.3):c.380C>T (p.A127V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75003646C>T" "" "likely benign" "" "0000345837" "0" "90" "14" "75472570" "75472570" "subst" "0.000251783" "02327" "EIF2B2_000006" "g.75472570G>T" "" "" "" "EIF2B2(NM_014239.3):c.599G>T (p.G200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75005867G>T" "" "pathogenic" "" "0000346572" "0" "50" "14" "75470366" "75470366" "subst" "0" "02327" "EIF2B2_000019" "g.75470366A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75003663A>T" "" "VUS" "" "0000346632" "0" "50" "14" "75472605" "75472605" "subst" "0.00000812189" "02327" "EIF2B2_000010" "g.75472605A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75005902A>G" "" "VUS" "" "0000458948" "0" "90" "14" "75473389" "75473389" "subst" "0" "00233" "EIF2B2_000001" "g.75473389G>A" "" "{PMID:Alsalem et al (2012):22285377}" "" "" "submitted through SIB; {EXP:068454}" "Germline" "" "" "0" "" "" "g.75006686G>A" "" "pathogenic" "" "0000458949" "0" "90" "14" "75470068" "75470068" "subst" "0.0000650846" "00233" "EIF2B2_000002" "g.75470068T>A" "" "{PMID:Matsukawa et al (2011):21484434}" "" "" "submitted through SIB; {EXP:068451}" "Germline" "" "" "0" "" "" "g.75003365T>A" "" "pathogenic" "" "0000458950" "0" "97" "14" "75472609" "75472609" "subst" "0.0000365488" "00233" "EIF2B2_000003" "g.75472609A>G" "" "{PMID:Sambati et al (2013):22729508}" "" "" "submitted through SIB; {EXP:012289}" "Germline" "" "" "0" "" "" "g.75005906A>G" "" "pathogenic" "" "0000458951" "0" "97" "14" "75472609" "75472609" "subst" "0.0000365488" "00233" "EIF2B2_000003" "g.75472609A>G" "" "{PMID:Fogli et al (2003):12707859}" "" "" "submitted through SIB; {EXP:012289}" "Germline" "" "" "0" "" "" "g.75005906A>G" "" "pathogenic" "" "0000458952" "0" "90" "14" "75471592" "75471592" "subst" "0.00000814279" "00233" "EIF2B2_000004" "g.75471592C>T" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068452}" "Germline" "" "" "0" "" "" "g.75004889C>T" "" "pathogenic" "" "0000458953" "0" "90" "14" "75471518" "75471518" "subst" "0.0000203257" "00233" "EIF2B2_000005" "g.75471518C>T" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:016842}" "Germline" "" "" "0" "" "" "g.75004815C>T" "" "pathogenic" "" "0000458954" "0" "90" "14" "75472570" "75472570" "subst" "0.000251783" "00233" "EIF2B2_000006" "g.75472570G>T" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068453}" "Germline" "" "" "0" "" "" "g.75005867G>T" "" "pathogenic" "" "0000458955" "0" "90" "14" "75473404" "75473404" "subst" "0.0000121878" "00233" "EIF2B2_000007" "g.75473404A>G" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012321}" "Germline" "" "" "0" "" "" "g.75006701A>G" "" "pathogenic" "" "0000458956" "0" "90" "14" "75475782" "75475782" "subst" "0.0000162435" "00233" "EIF2B2_000008" "g.75475782T>A" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012290}" "Germline" "" "" "0" "" "" "g.75009079T>A" "" "pathogenic" "" "0000458957" "0" "90" "14" "75475821" "75475821" "subst" "0.00000406091" "00233" "EIF2B2_000009" "g.75475821G>T" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012322}" "Germline" "" "" "0" "" "" "g.75009118G>T" "" "pathogenic" "" "0000615087" "0" "50" "14" "75473340" "75473340" "subst" "0" "01943" "EIF2B2_000021" "g.75473340C>T" "" "" "" "EIF2B2(NM_014239.3):c.754C>T (p.H252Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75006637C>T" "" "VUS" "" "0000657487" "0" "50" "14" "75473412" "75473412" "subst" "0" "02325" "EIF2B2_000022" "g.75473412C>T" "" "" "" "EIF2B2(NM_014239.4):c.826C>T (p.P276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75006709C>T" "" "VUS" "" "0000691708" "0" "70" "14" "75471520" "75471520" "subst" "0.00000406616" "02327" "EIF2B2_000023" "g.75471520C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691709" "0" "70" "14" "75471592" "75471592" "subst" "0.00000814279" "02327" "EIF2B2_000004" "g.75471592C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000786853" "0" "70" "14" "75470404" "75470404" "subst" "0" "00006" "EIF2B2_000024" "g.75470404T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.75003701T>G" "" "likely pathogenic" "" "0000806490" "0" "50" "14" "75469698" "75469698" "subst" "0.00000812777" "01943" "EIF2B2_000025" "g.75469698C>T" "" "" "" "EIF2B2(NM_014239.3):c.5C>T (p.P2L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806491" "0" "70" "14" "75472570" "75472570" "subst" "0.000251783" "01943" "EIF2B2_000006" "g.75472570G>T" "" "" "" "EIF2B2(NM_014239.3):c.599G>T (p.G200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 EIF2B2 ## Count = 23 "{{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}}" "0000158307" "00006969" "90" "599" "0" "599" "0" "c.599G>T" "r.(?)" "p.(Gly200Val)" "5" "0000276034" "00006969" "30" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Leu39=)" "" "0000276035" "00006969" "30" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Ala127Val)" "" "0000345837" "00006969" "90" "599" "0" "599" "0" "c.599G>T" "r.(?)" "p.(Gly200Val)" "" "0000346572" "00006969" "50" "397" "0" "397" "0" "c.397A>T" "r.(?)" "p.(Ile133Phe)" "" "0000346632" "00006969" "50" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ile212Val)" "" "0000458948" "00006969" "90" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Cys268Tyr)" "" "0000458949" "00006969" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Glu)" "" "0000458950" "00006969" "97" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(Glu213Gly)" "" "0000458951" "00006969" "97" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(Glu213Gly)" "" "0000458952" "00006969" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Pro196Ser)" "" "0000458953" "00006969" "90" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Ser171Phe)" "" "0000458954" "00006969" "90" "599" "0" "599" "0" "c.599G>T" "r.(?)" "p.(Gly200Val)" "" "0000458955" "00006969" "90" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Lys273Arg)" "" "0000458956" "00006969" "90" "947" "0" "947" "0" "c.947T>A" "r.(?)" "p.(Val316Asp)" "" "0000458957" "00006969" "90" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Gly329Val)" "" "0000615087" "00006969" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(His252Tyr)" "" "0000657487" "00006969" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "" "0000691708" "00006969" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "" "0000691709" "00006969" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Pro196Ser)" "" "0000786853" "00006969" "70" "433" "2" "433" "2" "c.433+2T>G" "r.spl" "p.?" "3i" "0000806490" "00006969" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Pro2Leu)" "" "0000806491" "00006969" "70" "599" "0" "599" "0" "c.599G>T" "r.(?)" "p.(Gly200Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000096315" "0000158307" "0000226607" "0000458948" "0000226608" "0000458949" "0000226609" "0000458950" "0000226610" "0000458951" "0000226611" "0000458952" "0000226612" "0000458953" "0000226613" "0000458954" "0000226614" "0000458955" "0000226615" "0000458956" "0000226616" "0000458957" "0000375502" "0000786853"