### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TSEN54) # 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}}" "TSEN54" "tRNA splicing endonuclease 54 homolog (S. cerevisiae)" "17" "q25.1" "unknown" "NG_013041.1" "UD_132118505576" "" "https://www.LOVD.nl/TSEN54" "" "1" "27561" "283989" "608755" "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/TSEN54_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-05 09:19:15" "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}}" "00021935" "TSEN54" "tRNA splicing endonuclease 54 homolog (S. cerevisiae)" "001" "NM_207346.2" "" "NP_997229.2" "" "" "" "-33" "1908" "1581" "73512609" "73520820" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01770" "PCH4" "hypoplasia, pontocerebellar, type 4 (PCH-4)" "AR" "225753" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02125" "PCH2A" "hypoplasia, pontocerebellar, type 2A (PCH-2A)" "AR" "277470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05045" "PCH5" "hypoplasia, pontocerebellar?, type 5 (PCH-5)" "AR" "610204" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05331" "PCH" "hypoplasia, pontocerebellar (PCH)" "AD;AR" "" "cerebellum" "" "non-degenerative form of pontocerebellar hypoplasia" "00001" "2017-09-25 12:19:57" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TSEN54" "01770" "TSEN54" "02125" "TSEN54" "05045" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00180168" "" "" "" "1" "" "00006" "{PMID:TumienÄ— 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat20" "00208533" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00268052" "" "" "" "2" "" "03388" "{PMID:Sepahvand 2020:32697043}" "5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "TSEN54.ER" "00275971" "" "" "" "1" "" "01469" "" "" "F" "" "Romania" ">02y09m" "" "" "" "" "CCM216" "00275972" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" ">18y09m" "" "" "" "" "CCM325" "00275973" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" ">01y03m" "" "" "" "" "CCM419" "00275974" "" "" "" "1" "" "01469" "" "" "F" "" "(Italy)" ">00y09m" "" "" "" "" "CCM430" "00275975" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" ">04y" "" "" "" "" "CCM495" "00275976" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" ">00y04m" "" "" "" "" "CCM516" "00275977" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" ">02y" "" "" "" "" "CCM517" "00275978" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" ">04y06m" "" "" "" "" "CCM276" "00275979" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" ">00y04m" "" "" "" "" "CCM543" "00275980" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" ">01y" "" "" "" "" "CCM549" "00291843" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291844" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301207" "" "" "" "1" "" "03388" "" "" "M" "yes" "Iran" "02y?" "0" "no" "" "Fars" "TSEN_54_Iranian" "00306766" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00387705" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "" "" "0" "" "" "Kurd" "M039" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00180168" "00198" "00268052" "05331" "00275971" "05331" "00275972" "05331" "00275973" "05331" "00275974" "05331" "00275975" "05331" "00275976" "05331" "00275977" "05331" "00275978" "05331" "00275979" "05331" "00275980" "05331" "00291843" "00198" "00291844" "00198" "00301207" "05331" "00306766" "00198" "00387705" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01770, 02125, 05045, 05331 ## Count = 15 "{{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}}" "0000142622" "00198" "00180168" "00006" "Familial, autosomal recessive" "" "Epilepsy (HP:0001250), focal seizures (HP:0007359), severe global developmental delay (HP:0011344). Head MRI: cerebellar hypoplasia (HP:0001321)." "" "" "" "" "" "" "" "" "PCH-2A" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000205895" "05331" "00268052" "03388" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210653" "05331" "00275971" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210654" "05331" "00275972" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210655" "05331" "00275973" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210656" "05331" "00275974" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210657" "05331" "00275975" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210658" "05331" "00275976" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210659" "05331" "00275977" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210660" "05331" "00275978" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210661" "05331" "00275979" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000210662" "05331" "00275980" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pontocerebellar hypoplasia" "" "0000228475" "05331" "00301207" "03388" "Familial, autosomal recessive" "02y?" "HP:0000252, HP:0007334, HP:0002353, HP:0001627, HP:0001272" "00y02m" "" "" "" "" "" "" "" "PCH" "Dandy Walker disease" "" "0000232594" "00198" "00306766" "01164" "Unknown" "" "Abnormality of nervous system physiology (HP:0012638); Global developmental delay (HP:0001263); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the pons (HP:0012110); Neurodevelopmental abnormality (HP:0012759)" "" "" "" "" "" "" "" "" "" "" "" "0000281273" "00139" "00387705" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181071" "00180168" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000209581" "00208533" "1" "01164" "01164" "2018-12-10 11:04:21" "" "" "SEQ-NG" "DNA" "" "" "0000269181" "00268052" "1" "03388" "03388" "2019-11-04 14:19:25" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000277124" "00275971" "1" "01469" "01469" "2020-01-21 19:05:34" "" "" "SEQ" "DNA" "blood" "" "0000277125" "00275972" "1" "01469" "01469" "2020-01-21 19:10:45" "" "" "SEQ" "DNA" "blood" "" "0000277126" "00275973" "1" "01469" "01469" "2020-01-21 19:16:38" "" "" "SEQ" "DNA" "blood" "" "0000277127" "00275974" "1" "01469" "01469" "2020-01-21 19:22:48" "" "" "SEQ" "DNA" "blood" "" "0000277128" "00275975" "1" "01469" "01469" "2020-01-21 19:25:26" "" "" "SEQ" "DNA" "blood" "" "0000277129" "00275976" "1" "01469" "01469" "2020-01-21 19:28:15" "" "" "SEQ" "DNA" "blood" "" "0000277130" "00275977" "1" "01469" "01469" "2020-01-21 19:30:42" "" "" "SEQ" "DNA" "blood" "" "0000277131" "00275978" "1" "01469" "01469" "2020-01-21 19:33:08" "" "" "SEQ" "DNA" "blood" "" "0000277132" "00275979" "1" "01469" "01469" "2020-01-21 19:36:01" "" "" "SEQ" "DNA" "blood" "" "0000277133" "00275980" "1" "01469" "01469" "2020-01-21 19:38:33" "" "" "SEQ" "DNA" "blood" "" "0000293011" "00291843" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293012" "00291844" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302330" "00301207" "1" "03388" "03388" "2020-05-09 14:31:37" "" "" "PCR;RFLP;SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000307902" "00306766" "1" "01164" "01164" "2020-07-20 10:25:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000388936" "00387705" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000181071" "TSEN54" "0000269181" "TSEN54" "0000277124" "TSEN54" "0000277126" "TSEN54" "0000277127" "TSEN54" "0000277128" "TSEN54" "0000277129" "TSEN54" "0000277130" "TSEN54" "0000277131" "TSEN54" "0000277132" "TSEN54" "0000277133" "TSEN54" "0000302330" "TSEN54" "0000388936" "TSEN54" ## 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 = 114 "{{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}}" "0000247430" "0" "10" "17" "73513677" "73513677" "subst" "0.0725722" "02330" "TSEN54_000011" "g.73513677A>C" "" "" "" "TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75517596A>C" "" "benign" "" "0000247432" "0" "10" "17" "73518328" "73518328" "subst" "0.0777287" "02330" "TSEN54_000033" "g.73518328A>C" "" "" "" "TSEN54(NM_207346.2):c.1166A>C (p.Q389P), TSEN54(NM_207346.3):c.1166A>C (p.Q389P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522247A>C" "" "benign" "" "0000253371" "0" "10" "17" "73513677" "73513677" "subst" "0.0725722" "01943" "TSEN54_000011" "g.73513677A>C" "" "" "" "TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75517596A>C" "" "benign" "" "0000253383" "0" "10" "17" "73518328" "73518328" "subst" "0.0777287" "01943" "TSEN54_000033" "g.73518328A>C" "" "" "" "TSEN54(NM_207346.2):c.1166A>C (p.Q389P), TSEN54(NM_207346.3):c.1166A>C (p.Q389P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522247A>C" "" "benign" "" "0000309692" "0" "10" "17" "73518203" "73518203" "subst" "0.586278" "02330" "TSEN54_000022" "g.73518203G>C" "" "" "" "TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522122G>C" "" "benign" "" "0000309694" "0" "10" "17" "73518284" "73518284" "subst" "0.812994" "02330" "TSEN54_000026" "g.73518284G>C" "" "" "" "TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522203G>C" "" "benign" "" "0000309695" "0" "10" "17" "73512884" "73512884" "subst" "0.120886" "02330" "TSEN54_000004" "g.73512884T>G" "" "" "" "TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516803T>G" "" "benign" "" "0000309696" "0" "10" "17" "73512653" "73512653" "subst" "0.759615" "02330" "TSEN54_000002" "g.73512653G>T" "" "" "" "TSEN54(NM_207346.3):c.12G>T (p.E4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516572G>T" "" "benign" "" "0000309697" "0" "10" "17" "73519413" "73519413" "subst" "0.617461" "02330" "TSEN54_000027" "g.73519413C>T" "" "" "" "TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523332C>T" "" "benign" "" "0000309698" "0" "10" "17" "73520359" "73520359" "subst" "0.059376" "02330" "TSEN54_000031" "g.73520359C>G" "" "" "" "TSEN54(NM_207346.2):c.1447C>G (p.P483A), TSEN54(NM_207346.3):c.1447C>G (p.P483A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75524278C>G" "" "benign" "" "0000309699" "0" "10" "17" "73513072" "73513072" "subst" "0.0274197" "02330" "TSEN54_000008" "g.73513072C>T" "" "" "" "TSEN54(NM_207346.2):c.222-18C>T, TSEN54(NM_207346.3):c.222-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516991C>T" "" "benign" "" "0000309700" "0" "10" "17" "73513156" "73513156" "subst" "0.129086" "02330" "TSEN54_000009" "g.73513156G>A" "" "" "" "TSEN54(NM_207346.2):c.285+3G>A, TSEN54(NM_207346.3):c.285+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75517075G>A" "" "benign" "" "0000309702" "0" "30" "17" "73517536" "73517536" "subst" "0.0474124" "02330" "TSEN54_000016" "g.73517536G>A" "" "" "" "TSEN54(NM_207346.2):c.568G>A (p.V190M), TSEN54(NM_207346.3):c.568G>A (p.V190M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75521455G>A" "" "likely benign" "" "0000309703" "0" "30" "17" "73517777" "73517777" "subst" "0.0134209" "02330" "TSEN54_000017" "g.73517777G>A" "" "" "" "TSEN54(NM_207346.2):c.624-9G>A, TSEN54(NM_207346.3):c.624-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75521696G>A" "" "likely benign" "" "0000312095" "0" "10" "17" "73518284" "73518284" "subst" "0.812994" "02325" "TSEN54_000026" "g.73518284G>C" "" "" "" "TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522203G>C" "" "benign" "" "0000312096" "0" "10" "17" "73512884" "73512884" "subst" "0.120886" "02325" "TSEN54_000004" "g.73512884T>G" "" "" "" "TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516803T>G" "" "benign" "" "0000317949" "0" "10" "17" "73518203" "73518203" "subst" "0.586278" "01943" "TSEN54_000022" "g.73518203G>C" "" "" "" "TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522122G>C" "" "benign" "" "0000317950" "0" "50" "17" "73518219" "73518219" "subst" "0.000139395" "01943" "TSEN54_000023" "g.73518219C>T" "" "" "" "TSEN54(NM_207346.2):c.1057C>T (p.R353W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522138C>T" "" "VUS" "" "0000317951" "0" "30" "17" "73518233" "73518233" "subst" "0.000183661" "01943" "TSEN54_000024" "g.73518233G>A" "" "" "" "TSEN54(NM_207346.2):c.1071G>A (p.A357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522152G>A" "" "likely benign" "" "0000317952" "0" "50" "17" "73518276" "73518276" "subst" "0.000483623" "01943" "TSEN54_000025" "g.73518276G>A" "" "" "" "TSEN54(NM_207346.2):c.1114G>A (p.V372M), TSEN54(NM_207346.3):c.1114G>A (p.V372M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522195G>A" "" "VUS" "" "0000317953" "0" "10" "17" "73518284" "73518284" "subst" "0.812994" "01943" "TSEN54_000026" "g.73518284G>C" "" "" "" "TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522203G>C" "" "benign" "" "0000317954" "0" "10" "17" "73512884" "73512884" "subst" "0.120886" "01943" "TSEN54_000004" "g.73512884T>G" "" "" "" "TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516803T>G" "" "benign" "" "0000317955" "0" "10" "17" "73519413" "73519413" "subst" "0.617461" "01943" "TSEN54_000027" "g.73519413C>T" "" "" "" "TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523332C>T" "" "benign" "" "0000317956" "0" "10" "17" "73519423" "73519423" "subst" "4.06118E-6" "01943" "TSEN54_000028" "g.73519423T>C" "" "" "" "TSEN54(NM_207346.2):c.1313+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523342T>C" "" "benign" "" "0000317957" "0" "50" "17" "73519758" "73519758" "subst" "0.0122634" "01943" "TSEN54_000029" "g.73519758C>G" "" "" "" "TSEN54(NM_207346.2):c.1328C>G (p.S443C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523677C>G" "" "VUS" "" "0000317958" "0" "50" "17" "73519819" "73519819" "subst" "4.06207E-6" "01943" "TSEN54_000030" "g.73519819G>C" "" "" "" "TSEN54(NM_207346.2):c.1389G>C (p.K463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523738G>C" "" "VUS" "" "0000317959" "0" "10" "17" "73520359" "73520359" "subst" "0.059376" "01943" "TSEN54_000031" "g.73520359C>G" "" "" "" "TSEN54(NM_207346.2):c.1447C>G (p.P483A), TSEN54(NM_207346.3):c.1447C>G (p.P483A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75524278C>G" "" "benign" "" "0000317960" "0" "10" "17" "73520485" "73520485" "subst" "0.0159423" "01943" "TSEN54_000032" "g.73520485G>C" "" "" "" "TSEN54(NM_207346.2):c.1573G>C (p.G525R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75524404G>C" "" "benign" "" "0000317961" "0" "30" "17" "73512935" "73512935" "subst" "0" "01943" "TSEN54_000005" "g.73512935G>C" "" "" "" "TSEN54(NM_207346.2):c.165G>C (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516854G>C" "" "likely benign" "" "0000317962" "0" "30" "17" "73513008" "73513008" "subst" "0.000513691" "01943" "TSEN54_000006" "g.73513008C>T" "" "" "" "TSEN54(NM_207346.2):c.221+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516927C>T" "" "likely benign" "" "0000317963" "0" "10" "17" "73513014" "73513014" "subst" "0.000113091" "01943" "TSEN54_000007" "g.73513014T>G" "" "" "" "TSEN54(NM_207346.2):c.221+23T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516933T>G" "" "benign" "" "0000317964" "0" "10" "17" "73513072" "73513072" "subst" "0.0274197" "01943" "TSEN54_000008" "g.73513072C>T" "" "" "" "TSEN54(NM_207346.2):c.222-18C>T, TSEN54(NM_207346.3):c.222-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516991C>T" "" "benign" "" "0000317965" "0" "10" "17" "73513156" "73513156" "subst" "0.129086" "01943" "TSEN54_000009" "g.73513156G>A" "" "" "" "TSEN54(NM_207346.2):c.285+3G>A, TSEN54(NM_207346.3):c.285+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75517075G>A" "" "benign" "" "0000317966" "0" "30" "17" "73513721" "73513721" "subst" "4.06263E-6" "01943" "TSEN54_000012" "g.73513721C>T" "" "" "" "TSEN54(NM_207346.2):c.453C>T (p.T151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75517640C>T" "" "likely benign" "" "0000317967" "0" "30" "17" "73513753" "73513753" "subst" "0.00272832" "01943" "TSEN54_000013" "g.73513753C>T" "" "" "" "TSEN54(NM_207346.2):c.468+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75517672C>T" "" "likely benign" "" "0000317968" "0" "10" "17" "73517472" "73517472" "subst" "1.62869E-5" "01943" "TSEN54_000015" "g.73517472G>A" "" "" "" "TSEN54(NM_207346.2):c.522-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75521391G>A" "" "benign" "" "0000317969" "0" "10" "17" "73517536" "73517536" "subst" "0.0474124" "01943" "TSEN54_000016" "g.73517536G>A" "" "" "" "TSEN54(NM_207346.2):c.568G>A (p.V190M), TSEN54(NM_207346.3):c.568G>A (p.V190M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75521455G>A" "" "benign" "" "0000317970" "0" "10" "17" "73517777" "73517777" "subst" "0.0134209" "01943" "TSEN54_000017" "g.73517777G>A" "" "" "" "TSEN54(NM_207346.2):c.624-9G>A, TSEN54(NM_207346.3):c.624-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75521696G>A" "" "benign" "" "0000317971" "0" "30" "17" "73517825" "73517825" "subst" "0" "01943" "TSEN54_000018" "g.73517825G>A" "" "" "" "TSEN54(NM_207346.2):c.663G>A (p.L221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75521744G>A" "" "likely benign" "" "0000317972" "0" "50" "17" "73512853" "73512853" "subst" "0.00112352" "01943" "TSEN54_000003" "g.73512853C>T" "" "" "" "TSEN54(NM_207346.2):c.83C>T (p.S28L), TSEN54(NM_207346.3):c.83C>T (p.S28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516772C>T" "" "VUS" "" "0000317973" "0" "90" "17" "73518081" "73518081" "subst" "0.000941369" "01943" "TSEN54_000019" "g.73518081G>T" "" "" "" "TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522000G>T" "" "pathogenic" "" "0000317974" "0" "50" "17" "73518153" "73518153" "subst" "0.000179719" "01943" "TSEN54_000020" "g.73518153G>A" "" "" "" "TSEN54(NM_207346.2):c.991G>A (p.E331K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522072G>A" "" "VUS" "" "0000325616" "0" "50" "17" "73512644" "73512649" "dup" "0" "01804" "TSEN54_000001" "g.73512644_73512649dup" "" "" "" "TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75516563_75516568dup" "" "VUS" "" "0000325618" "0" "50" "17" "73518201" "73518201" "subst" "4.29267E-5" "01804" "TSEN54_000021" "g.73518201A>T" "" "" "" "TSEN54(NM_207346.2):c.1039A>T (p.K347*, p.(Lys347*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522120A>T" "" "VUS" "" "0000341362" "0" "90" "17" "73518081" "73518081" "subst" "0.000941369" "02327" "TSEN54_000019" "g.73518081G>T" "" "" "" "TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522000G>T" "" "pathogenic" "" "0000347540" "0" "10" "17" "73518203" "73518203" "subst" "0.586278" "02327" "TSEN54_000022" "g.73518203G>C" "" "" "" "TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75522122G>C" "" "benign" "" "0000347579" "0" "70" "17" "73519819" "73519819" "subst" "4.06207E-6" "02327" "TSEN54_000030" "g.73519819G>C" "" "" "" "TSEN54(NM_207346.2):c.1389G>C (p.K463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75523738G>C" "" "likely pathogenic" "" "0000404707" "3" "90" "17" "73518081" "73518081" "subst" "0.000941369" "00006" "TSEN54_000019" "g.73518081G>T" "" "{PMID:TumienÄ— 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.75522000G>T" "" "pathogenic" "ACMG" "0000439734" "0" "50" "17" "73518063" "73518063" "subst" "0" "01164" "TSEN54_000034" "g.73518063A>C" "" "" "" "" "hepatp-encephalopathy, mental retardation, Grand Mal, ataxia, no second variant in TSEN54 detected" "Germline" "" "" "0" "" "" "g.75521982A>C" "" "VUS" "ACMG" "0000563006" "0" "50" "17" "73512644" "73512649" "dup" "0" "01943" "TSEN54_000001" "g.73512644_73512649dup" "" "" "" "TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75516563_75516568dup" "" "VUS" "" "0000563007" "0" "10" "17" "73512644" "73512649" "dup" "0" "02325" "TSEN54_000001" "g.73512644_73512649dup" "" "" "" "TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75516563_75516568dup" "" "benign" "" "0000563009" "0" "10" "17" "73512653" "73512653" "subst" "0.759615" "02327" "TSEN54_000002" "g.73512653G>T" "" "" "" "TSEN54(NM_207346.3):c.12G>T (p.E4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75516572G>T" "" "benign" "" "0000563010" "0" "50" "17" "73512913" "73512913" "subst" "1.45099E-5" "01804" "KIAA0195_000023" "g.73512913C>T" "" "" "" "TSEN54(NM_207346.2):c.143C>T (p.(Ser48Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75516832C>T" "" "VUS" "" "0000563012" "0" "10" "17" "73513185" "73513185" "subst" "0.602302" "02325" "KIAA0195_000025" "g.73513185C>A" "" "" "" "TSEN54(NM_207346.2):c.285+32C>A, TSEN54(NM_207346.3):c.285+32C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517104C>A" "" "benign" "" "0000563013" "0" "10" "17" "73513289" "73513289" "subst" "0.126078" "02330" "KIAA0195_000026" "g.73513289C>G" "" "" "" "TSEN54(NM_207346.2):c.333C>G (p.R111=), TSEN54(NM_207346.3):c.333C>G (p.R111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517208C>G" "" "benign" "" "0000563014" "0" "10" "17" "73513289" "73513289" "subst" "0.126078" "01943" "KIAA0195_000026" "g.73513289C>G" "" "" "" "TSEN54(NM_207346.2):c.333C>G (p.R111=), TSEN54(NM_207346.3):c.333C>G (p.R111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517208C>G" "" "benign" "" "0000563016" "0" "10" "17" "73513619" "73513619" "subst" "0.115643" "02330" "KIAA0195_000028" "g.73513619C>A" "" "" "" "TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517538C>A" "" "benign" "" "0000563017" "0" "10" "17" "73513619" "73513619" "subst" "0.115643" "01943" "KIAA0195_000028" "g.73513619C>A" "" "" "" "TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517538C>A" "" "benign" "" "0000563018" "0" "10" "17" "73513619" "73513619" "subst" "0.115643" "02325" "KIAA0195_000028" "g.73513619C>A" "" "" "" "TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517538C>A" "" "benign" "" "0000563019" "0" "10" "17" "73513677" "73513677" "subst" "0.0725722" "02325" "TSEN54_000011" "g.73513677A>C" "" "" "" "TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517596A>C" "" "benign" "" "0000563020" "0" "10" "17" "73515067" "73515067" "dup" "0" "02330" "KIAA0195_000029" "g.73515067dup" "" "" "" "TSEN54(NM_207346.3):c.469-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75518986dup" "" "benign" "" "0000563021" "0" "30" "17" "73515068" "73515068" "subst" "0" "01804" "KIAA0195_000030" "g.73515068C>T" "" "" "" "TSEN54(NM_207346.2):c.469-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75518987C>T" "" "likely benign" "" "0000563022" "0" "30" "17" "73515073" "73515073" "subst" "0" "01943" "KIAA0195_000031" "g.73515073G>T" "" "" "" "TSEN54(NM_207346.2):c.469-3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75518992G>T" "" "likely benign" "" "0000563023" "0" "10" "17" "73517536" "73517536" "subst" "0.0474124" "02327" "TSEN54_000016" "g.73517536G>A" "" "" "" "TSEN54(NM_207346.2):c.568G>A (p.V190M), TSEN54(NM_207346.3):c.568G>A (p.V190M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75521455G>A" "" "benign" "" "0000563024" "0" "30" "17" "73517929" "73517929" "subst" "0.000656796" "01943" "LLGL2_000001" "g.73517929G>A" "" "" "" "TSEN54(NM_207346.2):c.767G>A (p.G256D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75521848G>A" "" "likely benign" "" "0000563026" "0" "30" "17" "73518033" "73518033" "subst" "0" "01804" "LLGL2_000003" "g.73518033G>A" "" "" "" "TSEN54(NM_207346.2):c.871G>A (p.(Ala291Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75521952G>A" "" "likely benign" "" "0000563027" "0" "50" "17" "73518071" "73518071" "subst" "2.70729E-5" "01943" "LLGL2_000004" "g.73518071C>G" "" "" "" "TSEN54(NM_207346.2):c.909C>G (p.F303L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75521990C>G" "" "VUS" "" "0000563028" "0" "90" "17" "73518081" "73518081" "subst" "0.000941369" "02325" "TSEN54_000019" "g.73518081G>T" "" "" "" "TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522000G>T" "" "pathogenic" "" "0000563029" "0" "30" "17" "73518096" "73518096" "subst" "0" "01804" "LLGL2_000005" "g.73518096C>T" "" "" "" "TSEN54(NM_207346.2):c.934C>T (p.(His312Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522015C>T" "" "likely benign" "" "0000563030" "0" "10" "17" "73518203" "73518203" "subst" "0.586278" "02325" "TSEN54_000022" "g.73518203G>C" "" "" "" "TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522122G>C" "" "benign" "" "0000563031" "0" "50" "17" "73518262" "73518262" "subst" "6.4673E-6" "02327" "LLGL2_000006" "g.73518262A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522181A>G" "" "VUS" "" "0000563032" "0" "10" "17" "73518284" "73518284" "subst" "0.812994" "02327" "TSEN54_000026" "g.73518284G>C" "" "" "" "TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522203G>C" "" "benign" "" "0000563033" "0" "30" "17" "73518396" "73518396" "subst" "7.38291E-6" "01943" "LLGL2_000007" "g.73518396G>A" "" "" "" "TSEN54(NM_207346.2):c.1234G>A (p.G412S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522315G>A" "" "likely benign" "" "0000563034" "0" "10" "17" "73518563" "73518563" "subst" "0.181829" "02325" "LLGL2_000008" "g.73518563G>C" "" "" "" "TSEN54(NM_207346.3):c.1252+149G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522482G>C" "" "benign" "" "0000563036" "0" "10" "17" "73519413" "73519413" "subst" "0.617461" "02327" "TSEN54_000027" "g.73519413C>T" "" "" "" "TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75523332C>T" "" "benign" "" "0000563037" "0" "10" "17" "73519413" "73519413" "subst" "0.617461" "02325" "TSEN54_000027" "g.73519413C>T" "" "" "" "TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75523332C>T" "" "benign" "" "0000563040" "0" "50" "17" "73520348" "73520348" "subst" "4.06329E-6" "01943" "LLGL2_000009" "g.73520348A>G" "" "" "" "TSEN54(NM_207346.2):c.1436A>G (p.D479G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75524267A>G" "" "VUS" "" "0000563041" "0" "10" "17" "73520359" "73520359" "subst" "0.059376" "02325" "TSEN54_000031" "g.73520359C>G" "" "" "" "TSEN54(NM_207346.2):c.1447C>G (p.P483A), TSEN54(NM_207346.3):c.1447C>G (p.P483A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75524278C>G" "" "benign" "" "0000563042" "0" "30" "17" "73520364" "73520364" "subst" "7.31143E-5" "01943" "LLGL2_000010" "g.73520364C>T" "" "" "" "TSEN54(NM_207346.2):c.1452C>T (p.D484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75524283C>T" "" "likely benign" "" "0000563043" "0" "30" "17" "73520380" "73520380" "subst" "0.0124761" "01943" "LLGL2_000011" "g.73520380C>T" "" "" "" "TSEN54(NM_207346.2):c.1468C>T (p.R490W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75524299C>T" "" "likely benign" "" "0000601872" "3" "50" "17" "73518332" "73518332" "subst" "0" "03388" "TSEN54_000035" "g.73518332G>A" "" "{PMID:Sepahvand 2020:32697043}" "" "Val390Val" "variant predicted to affect splicing" "Germline" "yes" "" "0" "" "" "g.75522251G>A" "" "likely pathogenic (recessive)" "ACMG" "0000616812" "0" "70" "17" "73512642" "73512642" "subst" "0" "02325" "KIAA0195_000036" "g.73512642A>T" "" "" "" "TSEN54(NM_207346.3):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75516561A>T" "" "likely pathogenic" "" "0000616813" "0" "10" "17" "73513185" "73513185" "subst" "0.602302" "01943" "KIAA0195_000025" "g.73513185C>A" "" "" "" "TSEN54(NM_207346.2):c.285+32C>A, TSEN54(NM_207346.3):c.285+32C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75517104C>A" "" "benign" "" "0000616814" "0" "30" "17" "73517989" "73517989" "subst" "0.000148277" "01943" "LLGL2_000015" "g.73517989G>T" "" "" "" "TSEN54(NM_207346.2):c.827G>T (p.G276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75521908G>T" "" "likely benign" "" "0000616815" "0" "30" "17" "73518117" "73518117" "subst" "0" "01943" "LLGL2_000016" "g.73518117G>A" "" "" "" "TSEN54(NM_207346.2):c.955G>A (p.A319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522036G>A" "" "likely benign" "" "0000616816" "0" "30" "17" "73518321" "73518321" "subst" "0" "01943" "LLGL2_000017" "g.73518321C>T" "" "" "" "TSEN54(NM_207346.2):c.1159C>T (p.R387W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75522240C>T" "" "likely benign" "" "0000631857" "3" "90" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "pathogenic" "" "0000631858" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631859" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631860" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631861" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631862" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631863" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631864" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631865" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000631866" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01469" "TSEN54_000019" "g.73518081G>T" "" "" "" "g.10473G>T" "" "Germline" "" "" "" "" "" "g.75522000G>T" "" "likely pathogenic" "" "0000649700" "1" "50" "17" "73518219" "73518219" "subst" "0.000139395" "03575" "TSEN54_000023" "g.73518219C>T" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs200540627}" "Germline" "" "rs200540627" "0" "" "" "g.75522138C>T" "" "VUS" "" "0000649701" "1" "30" "17" "73520380" "73520380" "subst" "0.0124761" "03575" "LLGL2_000011" "g.73520380C>T" "10/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs144662042}" "Germline" "" "rs144662042" "0" "" "" "g.75524299C>T" "" "likely benign" "" "0000665549" "3" "70" "17" "73518332" "73518332" "subst" "0" "03388" "TSEN54_000035" "g.73518332G>A" "" "" "RsaI+" "" "possible effect on splicing; c.1170G>A variant was checked in 26 relative individuals of the family using the PCR-RFLP technique which was confirmed by Sanger sequencing, 16 subjects were heterozygous for the variant (GA), while only two homozygotes (patients) were in the family." "Germline" "yes" "" "0" "" "" "g.75522251G>A" "" "likely pathogenic (recessive)" "ACMG" "0000674723" "3" "70" "17" "73518081" "73518081" "subst" "0.000941369" "01164" "TSEN54_000019" "g.73518081G>T" "" "Budde et al. 2008. Nat Genet 40: 1113; Sanchez-Albisua et al. 2014. Orphanet J Rare Dis 9: 70" "" "" "ACMG grading: PS4,PM2,PM3,PP1" "Germline" "" "rs113994152" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000681010" "0" "50" "17" "73512985" "73512985" "subst" "0" "02325" "KIAA0195_000037" "g.73512985A>C" "" "" "" "TSEN54(NM_207346.3):c.215A>C (p.E72A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681012" "0" "30" "17" "73515117" "73515117" "subst" "0" "01943" "KIAA0195_000038" "g.73515117A>T" "" "" "" "TSEN54(NM_207346.2):c.510A>T (p.R170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681013" "0" "50" "17" "73518276" "73518276" "subst" "0.000483623" "02325" "TSEN54_000025" "g.73518276G>A" "" "" "" "TSEN54(NM_207346.2):c.1114G>A (p.V372M), TSEN54(NM_207346.3):c.1114G>A (p.V372M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681014" "0" "50" "17" "73518361" "73518361" "subst" "0" "02325" "LLGL2_000018" "g.73518361T>C" "" "" "" "TSEN54(NM_207346.3):c.1199T>C (p.L400P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681015" "0" "50" "17" "73519416" "73519416" "subst" "0.000633559" "01943" "LLGL2_000019" "g.73519416G>A" "" "" "" "TSEN54(NM_207346.2):c.1313G>A (p.R438Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692461" "0" "90" "17" "73518201" "73518201" "subst" "4.29267E-5" "01943" "TSEN54_000021" "g.73518201A>T" "" "" "" "TSEN54(NM_207346.2):c.1039A>T (p.K347*, p.(Lys347*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726667" "0" "50" "17" "73512853" "73512853" "subst" "0.00112352" "02329" "TSEN54_000003" "g.73512853C>T" "" "" "" "TSEN54(NM_207346.2):c.83C>T (p.S28L), TSEN54(NM_207346.3):c.83C>T (p.S28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726668" "0" "90" "17" "73518081" "73518081" "subst" "0.000941369" "02329" "TSEN54_000019" "g.73518081G>T" "" "" "" "TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726669" "0" "50" "17" "73518276" "73518276" "subst" "0.000483623" "02329" "TSEN54_000025" "g.73518276G>A" "" "" "" "TSEN54(NM_207346.2):c.1114G>A (p.V372M), TSEN54(NM_207346.3):c.1114G>A (p.V372M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817729" "3" "70" "17" "73513639" "73513639" "subst" "1.21945E-5" "00006" "TSEN54_000036" "g.73513639G>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.75517558G>T" "" "likely pathogenic (recessive)" "ACMG" "0000855086" "0" "10" "17" "73512653" "73512653" "subst" "0.759615" "02326" "TSEN54_000002" "g.73512653G>T" "" "" "" "TSEN54(NM_207346.3):c.12G>T (p.E4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855087" "0" "30" "17" "73512686" "73512686" "subst" "0" "01943" "KIAA0195_000044" "g.73512686G>T" "" "" "" "TSEN54(NM_207346.2):c.45G>T (p.G15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003662" "0" "90" "17" "73518081" "73518081" "subst" "0.000941369" "01804" "TSEN54_000019" "g.73518081G>T" "" "" "" "TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042164" "0" "50" "17" "73517518" "73517518" "subst" "0" "01804" "LLGL2_000022" "g.73517518C>T" "" "" "" "TSEN54(NM_207346.3):c.550C>T (p.(Leu184Phe))" "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 TSEN54 ## Count = 114 "{{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}}" "0000247430" "00021935" "10" "409" "0" "409" "0" "c.409A>C" "r.(?)" "p.(Ile137Leu)" "" "0000247432" "00021935" "10" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Gln389Pro)" "" "0000253371" "00021935" "10" "409" "0" "409" "0" "c.409A>C" "r.(?)" "p.(Ile137Leu)" "" "0000253383" "00021935" "10" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Gln389Pro)" "" "0000309692" "00021935" "10" "1041" "0" "1041" "0" "c.1041G>C" "r.(?)" "p.(Lys347Asn)" "" "0000309694" "00021935" "10" "1122" "0" "1122" "0" "c.1122G>C" "r.(?)" "p.(Arg374=)" "" "0000309695" "00021935" "10" "114" "0" "114" "0" "c.114T>G" "r.(?)" "p.(His38Gln)" "" "0000309696" "00021935" "10" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Glu4Asp)" "" "0000309697" "00021935" "10" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000309698" "00021935" "10" "1447" "0" "1447" "0" "c.1447C>G" "r.(?)" "p.(Pro483Ala)" "" "0000309699" "00021935" "10" "222" "-18" "222" "-18" "c.222-18C>T" "r.(=)" "p.(=)" "" "0000309700" "00021935" "10" "285" "3" "285" "3" "c.285+3G>A" "r.spl?" "p.?" "" "0000309702" "00021935" "30" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Met)" "" "0000309703" "00021935" "30" "624" "-9" "624" "-9" "c.624-9G>A" "r.(=)" "p.(=)" "" "0000312095" "00021935" "10" "1122" "0" "1122" "0" "c.1122G>C" "r.(?)" "p.(Arg374=)" "" "0000312096" "00021935" "10" "114" "0" "114" "0" "c.114T>G" "r.(?)" "p.(His38Gln)" "" "0000317949" "00021935" "10" "1041" "0" "1041" "0" "c.1041G>C" "r.(?)" "p.(Lys347Asn)" "" "0000317950" "00021935" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Trp)" "" "0000317951" "00021935" "30" "1071" "0" "1071" "0" "c.1071G>A" "r.(?)" "p.(Ala357=)" "" "0000317952" "00021935" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "" "0000317953" "00021935" "10" "1122" "0" "1122" "0" "c.1122G>C" "r.(?)" "p.(Arg374=)" "" "0000317954" "00021935" "10" "114" "0" "114" "0" "c.114T>G" "r.(?)" "p.(His38Gln)" "" "0000317955" "00021935" "10" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000317956" "00021935" "10" "1313" "7" "1313" "7" "c.1313+7T>C" "r.(=)" "p.(=)" "" "0000317957" "00021935" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ser443Cys)" "" "0000317958" "00021935" "50" "1389" "0" "1389" "0" "c.1389G>C" "r.(?)" "p.(Lys463Asn)" "" "0000317959" "00021935" "10" "1447" "0" "1447" "0" "c.1447C>G" "r.(?)" "p.(Pro483Ala)" "" "0000317960" "00021935" "10" "1573" "0" "1573" "0" "c.1573G>C" "r.(?)" "p.(Gly525Arg)" "" "0000317961" "00021935" "30" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.(Leu55=)" "" "0000317962" "00021935" "30" "221" "17" "221" "17" "c.221+17C>T" "r.(=)" "p.(=)" "" "0000317963" "00021935" "10" "221" "23" "221" "23" "c.221+23T>G" "r.(=)" "p.(=)" "" "0000317964" "00021935" "10" "222" "-18" "222" "-18" "c.222-18C>T" "r.(=)" "p.(=)" "" "0000317965" "00021935" "10" "285" "3" "285" "3" "c.285+3G>A" "r.spl?" "p.?" "" "0000317966" "00021935" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Thr151=)" "" "0000317967" "00021935" "30" "468" "17" "468" "17" "c.468+17C>T" "r.(=)" "p.(=)" "" "0000317968" "00021935" "10" "522" "-18" "522" "-18" "c.522-18G>A" "r.(=)" "p.(=)" "" "0000317969" "00021935" "10" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Met)" "" "0000317970" "00021935" "10" "624" "-9" "624" "-9" "c.624-9G>A" "r.(=)" "p.(=)" "" "0000317971" "00021935" "30" "663" "0" "663" "0" "c.663G>A" "r.(?)" "p.(Leu221=)" "" "0000317972" "00021935" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Ser28Leu)" "" "0000317973" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000317974" "00021935" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Glu331Lys)" "" "0000325616" "00021935" "50" "3" "0" "8" "0" "c.3_8dup" "r.(?)" "p.(Met1?)" "" "0000325618" "00021935" "50" "1039" "0" "1039" "0" "c.1039A>T" "r.(?)" "p.(Lys347Ter)" "" "0000341362" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000347540" "00021935" "10" "1041" "0" "1041" "0" "c.1041G>C" "r.(?)" "p.(Lys347Asn)" "" "0000347579" "00021935" "70" "1389" "0" "1389" "0" "c.1389G>C" "r.(?)" "p.(Lys463Asn)" "" "0000404707" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "8" "0000439734" "00021935" "50" "901" "0" "901" "0" "c.901A>C" "r.(?)" "p.Ile301Leu" "" "0000563006" "00021935" "50" "3" "0" "8" "0" "c.3_8dup" "r.(?)" "p.(Met1?)" "" "0000563007" "00021935" "10" "3" "0" "8" "0" "c.3_8dup" "r.(?)" "p.(Met1?)" "" "0000563009" "00021935" "10" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Glu4Asp)" "" "0000563010" "00021935" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Leu)" "" "0000563012" "00021935" "10" "285" "32" "285" "32" "c.285+32C>A" "r.(=)" "p.(=)" "" "0000563013" "00021935" "10" "333" "0" "333" "0" "c.333C>G" "r.(?)" "p.(Arg111=)" "" "0000563014" "00021935" "10" "333" "0" "333" "0" "c.333C>G" "r.(?)" "p.(Arg111=)" "" "0000563016" "00021935" "10" "370" "-19" "370" "-19" "c.370-19C>A" "r.(=)" "p.(=)" "" "0000563017" "00021935" "10" "370" "-19" "370" "-19" "c.370-19C>A" "r.(=)" "p.(=)" "" "0000563018" "00021935" "10" "370" "-19" "370" "-19" "c.370-19C>A" "r.(=)" "p.(=)" "" "0000563019" "00021935" "10" "409" "0" "409" "0" "c.409A>C" "r.(?)" "p.(Ile137Leu)" "" "0000563020" "00021935" "10" "469" "-9" "469" "-9" "c.469-9dup" "r.(=)" "p.(=)" "" "0000563021" "00021935" "30" "469" "-8" "469" "-8" "c.469-8C>T" "r.(=)" "p.(=)" "" "0000563022" "00021935" "30" "469" "-3" "469" "-3" "c.469-3G>T" "r.spl?" "p.?" "" "0000563023" "00021935" "10" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Met)" "" "0000563024" "00021935" "30" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Gly256Asp)" "" "0000563026" "00021935" "30" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Ala291Thr)" "" "0000563027" "00021935" "50" "909" "0" "909" "0" "c.909C>G" "r.(?)" "p.(Phe303Leu)" "" "0000563028" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000563029" "00021935" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(His312Tyr)" "" "0000563030" "00021935" "10" "1041" "0" "1041" "0" "c.1041G>C" "r.(?)" "p.(Lys347Asn)" "" "0000563031" "00021935" "50" "1100" "0" "1100" "0" "c.1100A>G" "r.(?)" "p.(Asn367Ser)" "" "0000563032" "00021935" "10" "1122" "0" "1122" "0" "c.1122G>C" "r.(?)" "p.(Arg374=)" "" "0000563033" "00021935" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Ser)" "" "0000563034" "00021935" "10" "1252" "149" "1252" "149" "c.1252+149G>C" "r.(=)" "p.(=)" "" "0000563036" "00021935" "10" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000563037" "00021935" "10" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000563040" "00021935" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Asp479Gly)" "" "0000563041" "00021935" "10" "1447" "0" "1447" "0" "c.1447C>G" "r.(?)" "p.(Pro483Ala)" "" "0000563042" "00021935" "30" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Asp484=)" "" "0000563043" "00021935" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "" "0000601872" "00021935" "50" "1170" "0" "1170" "0" "c.1170G>A" "r.spl" "p.?" "" "0000616812" "00021935" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000616813" "00021935" "10" "285" "32" "285" "32" "c.285+32C>A" "r.(=)" "p.(=)" "" "0000616814" "00021935" "30" "827" "0" "827" "0" "c.827G>T" "r.(?)" "p.(Gly276Val)" "" "0000616815" "00021935" "30" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "" "0000616816" "00021935" "30" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Trp)" "" "0000631857" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631858" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631859" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631860" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631861" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631862" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631863" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631864" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631865" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000631866" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000649700" "00021935" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Trp)" "" "0000649701" "00021935" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "" "0000665549" "00021935" "70" "1170" "0" "1170" "0" "c.1170G>A" "r.spl?" "p.(Val390=)" "" "0000674723" "00021935" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000681010" "00021935" "50" "215" "0" "215" "0" "c.215A>C" "r.(?)" "p.(Glu72Ala)" "" "0000681012" "00021935" "30" "510" "0" "510" "0" "c.510A>T" "r.(?)" "p.(Arg170=)" "" "0000681013" "00021935" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "" "0000681014" "00021935" "50" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Leu400Pro)" "" "0000681015" "00021935" "50" "1313" "0" "1313" "0" "c.1313G>A" "r.(?)" "p.(Arg438Gln)" "" "0000692461" "00021935" "90" "1039" "0" "1039" "0" "c.1039A>T" "r.(?)" "p.(Lys347Ter)" "" "0000726667" "00021935" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Ser28Leu)" "" "0000726668" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0000726669" "00021935" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "" "0000817729" "00021935" "70" "371" "0" "371" "0" "c.371G>T" "r.(?)" "p.(Gly124Val)" "" "0000855086" "00021935" "10" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Glu4Asp)" "" "0000855087" "00021935" "30" "45" "0" "45" "0" "c.45G>T" "r.(?)" "p.(Gly15=)" "" "0001003662" "00021935" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Ala307Ser)" "" "0001042164" "00021935" "50" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Leu184Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000181071" "0000404707" "0000209581" "0000439734" "0000269181" "0000601872" "0000277124" "0000631857" "0000277125" "0000631858" "0000277126" "0000631859" "0000277127" "0000631860" "0000277128" "0000631861" "0000277129" "0000631862" "0000277130" "0000631863" "0000277131" "0000631864" "0000277132" "0000631865" "0000277133" "0000631866" "0000293011" "0000649700" "0000293012" "0000649701" "0000302330" "0000665549" "0000307902" "0000674723" "0000388936" "0000817729"