### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ISCU) # 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}}" "ISCU" "iron-sulfur cluster scaffold homolog (E. coli)" "12" "q24.1" "unknown" "NG_011857.1" "UD_132118719754" "" "http://www.LOVD.nl/ISCU" "" "1" "29882" "23479" "611911" "1" "1" "1" "1" "This database is one of the gene variant databases from the:." "" "g" "https://databases.lovd.nl/shared/refseq/ISCU_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2019-12-30 17:59:28" "00000" "2024-04-19 20:27:30" ## 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}}" "00010158" "ISCU" "transcript variant 1" "001" "NM_014301.3" "" "NP_055116.1" "" "" "" "-276" "897" "429" "108956294" "108963160" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01957" "HML" "myopathy with lactic acidosis, hereditary (HML)" "AR" "255125" "" "muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, palpitations; biochemical features include lactic acidosis and (rarely) rhabdomyolysis; chronic disorder with remission and exacerbation of muscle phenotype" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ISCU" "01957" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00105916" "" "" "" "1" "" "00095" "" "" "M" "no" "Italy" "" "0" "" "" "" "mt4460" "00105922" "" "" "" "1" "" "00006" "{PMID:Hall 1993:8254022}" "" "" "" "Sweden" ">37y" "0" "" "" "" "18304497-P1" "00105923" "" "" "" "1" "" "00006" "{PMID:Mochel 2008:18304497}" "" "" "" "Sweden" ">39y" "0" "" "" "" "18304497-P2" "00105924" "" "" "" "4" "" "00006" "{PMID:Drugge 1995:7616539}" "3-generation family, 4 affecteds" "" "" "Sweden" ">66y" "0" "" "" "" "18304497-FamA.P3" "00105925" "" "" "" "3" "" "00006" "{PMID:Mochel 2008:18304497}" "" "" "" "" "" "0" "" "" "" "18304497-c" "00105926" "" "" "" "1" "" "00006" "{PMID:Mochel 2008:18304497}" "" "" "" "Sweden" "" "0" "" "" "" "18296749-c" "00105927" "" "" "" "4" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 4 affecteds (3F, 1M)" "" "" "Sweden" "" "0" "" "" "" "18296749-FamA" "00105928" "" "" "" "2" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 2 affecteds (F, M)" "" "" "Sweden" "" "0" "" "" "" "18296749-FamB" "00105929" "" "" "" "3" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 3 affecteds (2F, 1M)" "" "" "Sweden" "" "0" "" "" "" "18296749-FamC" "00105930" "" "" "" "3" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 3 affecteds (3M)" "M" "" "Sweden" "" "0" "" "" "" "18296749-FamD" "00105931" "" "" "" "1" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 1 affected female" "F" "" "Sweden" "" "0" "" "" "" "18296749-FamE" "00105932" "" "" "" "1" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 1 affected male" "M" "" "Sweden" "" "0" "" "" "" "18296749-FamF" "00105933" "" "" "" "2" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 2 affecteds (F, M)" "" "" "Sweden" "" "0" "" "" "" "18296749-FamG" "00105934" "" "" "" "1" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 1 affected male" "M" "" "Sweden" "" "0" "" "" "" "18296749-FamH" "00105935" "" "" "" "1" "" "00006" "{PMID:Olsson 2009:18296749}" "family, 1 affected male" "M" "" "Sweden" "" "0" "" "" "" "18296749-FamI" "00105936" "" "" "" "2" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 2 affected males" "M" "" "Sweden" "" "0" "" "" "" "19567699-FamG" "00105937" "" "" "" "1" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 1 affected male" "M" "" "Sweden" "" "0" "" "" "" "19567699-FamA" "00105938" "" "" "" "1" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 1 affected male" "M" "" "Sweden" "" "0" "" "" "" "19567699-FamB" "00105939" "" "" "" "1" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 1 affected female" "F" "" "Sweden" "" "0" "" "" "" "19567699-FamC" "00105940" "" "" "" "1" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 1 affected male" "M" "" "Sweden" "" "0" "" "" "" "19567699-FamD" "00105941" "" "" "" "2" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 2 affected males" "M" "" "Sweden" "" "0" "" "" "" "19567699-FamE" "00105942" "" "" "" "2" "" "00006" "{PMID:Kollberg 2009:19567699}" "family, 2 affected females" "F" "" "Sweden" "" "0" "" "" "" "19567699-FamF" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00105916" "01957" "00105922" "01957" "00105923" "01957" "00105924" "01957" "00105925" "01957" "00105926" "01957" "00105927" "01957" "00105928" "01957" "00105929" "01957" "00105930" "01957" "00105931" "01957" "00105932" "01957" "00105933" "01957" "00105934" "01957" "00105935" "01957" "00105936" "01957" "00105937" "01957" "00105938" "01957" "00105939" "01957" "00105940" "01957" "00105941" "01957" "00105942" "01957" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01957 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000083830" "01957" "00105922" "00006" "Familial, autosomal recessive" "" "lifelong exercise intolerance, symptoms muscle fatigue, shortness of breath, tachycardia with minor levels physical exertion with episodes myoglobinuria; low work/oxidative capacity, deficiency succinate dehydrogenase/aconitase" "" "" "" "" "" "" "" "" "" "0000083831" "01957" "00105923" "00006" "Familial, autosomal recessive" "" "lifelong exercise intolerance, symptoms muscle fatigue, shortness of breath, tachycardia with minor levels physical exertion with episodes myoglobinuria; low work/oxidative capacity, deficiency succinate dehydrogenase/aconitase" "" "" "" "" "" "" "" "" "" "0000083832" "01957" "00105924" "00006" "Familial, autosomal recessive" "" "lifelong exercise intolerance, symptoms muscle fatigue, shortness of breath, tachycardia with minor levels physical exertion with episodes myoglobinuria; low work/oxidative capacity, deficiency succinate dehydrogenase/aconitase" "" "" "" "" "" "" "" "" "" "0000083833" "00000" "00105925" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000083834" "00000" "00105926" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000083835" "01957" "00105927" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083836" "01957" "00105928" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083837" "01957" "00105929" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083838" "01957" "00105930" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083839" "01957" "00105931" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083840" "01957" "00105932" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083841" "01957" "00105933" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083842" "01957" "00105934" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083843" "01957" "00105935" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083844" "01957" "00105936" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083845" "01957" "00105937" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083846" "01957" "00105938" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083847" "01957" "00105939" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083848" "01957" "00105940" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083849" "01957" "00105941" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083850" "01957" "00105942" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083943" "01957" "00105916" "00095" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000106387" "00105916" "1" "00095" "00095" "2017-06-26 16:46:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000106393" "00105922" "1" "00006" "00006" "2010-03-20 19:04:27" "00006" "2012-11-02 20:42:42" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000106394" "00105923" "1" "00006" "00006" "2010-03-20 19:04:27" "00006" "2012-11-02 20:42:42" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000106395" "00105924" "1" "00006" "00006" "2010-03-20 19:04:27" "00006" "2012-11-02 20:42:42" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000106396" "00105925" "1" "00006" "00006" "2010-03-20 19:04:27" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106397" "00105926" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106398" "00105927" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106399" "00105928" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106400" "00105929" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106401" "00105930" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106402" "00105931" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106403" "00105932" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106404" "00105933" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106405" "00105934" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106406" "00105935" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106407" "00105936" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106408" "00105937" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106409" "00105938" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106410" "00105939" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106411" "00105940" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106412" "00105941" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" "0000106413" "00105942" "1" "00006" "00006" "2010-11-14 16:47:50" "00006" "2012-11-02 20:42:42" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000106393" "ISCU" "0000106394" "ISCU" "0000106395" "ISCU" "0000106396" "ISCU" "0000106397" "ISCU" "0000106398" "ISCU" "0000106399" "ISCU" "0000106400" "ISCU" "0000106401" "ISCU" "0000106402" "ISCU" "0000106403" "ISCU" "0000106404" "ISCU" "0000106405" "ISCU" "0000106406" "ISCU" "0000106407" "ISCU" "0000106408" "ISCU" "0000106409" "ISCU" "0000106410" "ISCU" "0000106411" "ISCU" "0000106412" "ISCU" "0000106413" "ISCU" ## 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 = 33 "{{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}}" "0000171989" "0" "90" "12" "108959155" "108959155" "subst" "0" "00095" "ISCU_000003" "g.108959155G>T" "" "" "" "NM_213595.2:c.287G>T" "" "De novo" "" "" "0" "" "" "g.108565379G>T" "" "pathogenic" "" "0000171998" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Mochel 2008:18304497}, {OMIM611911:0001}" "" "g.7044G>C" "variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000171999" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Mochel 2008:18304497}, {OMIM611911:0001}" "" "g.7044G>C" "variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172000" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Mochel 2008:18304497}, {OMIM611911:0001}" "" "g.7044G>C" "variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172001" "0" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "3/568 controls" "{PMID:Mochel 2008:18304497}, {OMIM611911:0001}" "" "g.7044G>C" "not in 584 non-Swedish controls" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172002" "1" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "1/354 controls" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172003" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172004" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172005" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172006" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172007" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172008" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172009" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172010" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172011" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Olsson 2008:18296749}, {OMIM611911:0001}" "" "IVS5+382G>C" "linkage, LOD score 5.3, common haplotype" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172012" "2" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172013" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172014" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172015" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172016" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172017" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172018" "3" "95" "12" "108961426" "108961426" "subst" "0" "00006" "ISCU_000001" "g.108961426G>C" "" "{PMID:Kollberg 2009:19567699}" "" "" "" "Germline" "" "" "0" "" "" "g.108567650G>C" "" "pathogenic" "" "0000172019" "1" "95" "12" "108958089" "108958089" "subst" "1.21822E-5" "00006" "ISCU_000002" "g.108958089G>A" "" "{PMID9:Kollberg 2009:1956769}, {OMIM611911:0002}" "" "149G>A (Gly50Glu)" "" "Germline" "" "" "0" "" "" "g.108564313G>A" "" "pathogenic" "" "0000281564" "0" "10" "12" "108956529" "108956529" "dup" "0" "02325" "ISCU_000005" "g.108956529dup" "" "" "" "ISCU(NM_014301.4):c.-58+17dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108562753dup" "" "benign" "" "0000281565" "0" "10" "12" "108956417" "108956417" "subst" "0.864027" "02325" "ISCU_000004" "g.108956417T>G" "" "" "" "ISCU(NM_213595.4):c.19T>G (p.F7V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108562641T>G" "" "benign" "" "0000297901" "0" "10" "12" "108954823" "108954823" "subst" "0.821338" "02325" "SART3_000005" "g.108954823C>T" "" "" "" "SART3(NM_014706.4):c.108G>A (p.R36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108561047C>T" "" "benign" "" "0000297904" "0" "10" "12" "108954862" "108954862" "subst" "0.231357" "02325" "SART3_000006" "g.108954862G>C" "" "" "" "SART3(NM_014706.4):c.69C>G (p.D23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108561086G>C" "" "benign" "" "0000546359" "0" "10" "12" "108956418" "108956418" "subst" "0.863538" "02325" "SART3_000009" "g.108956418T>G" "" "" "" "ISCU(NM_213595.4):c.20T>G (p.F7C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108562642T>G" "" "benign" "" "0000546360" "0" "50" "12" "108958154" "108958154" "subst" "4.06161E-6" "02327" "SART3_000010" "g.108958154G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108564378G>A" "" "VUS" "" "0000546361" "0" "30" "12" "108959177" "108959177" "subst" "4.06088E-6" "01943" "SART3_000011" "g.108959177A>G" "" "" "" "ISCU(NM_001320042.1):c.309A>G (p.S103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108565401A>G" "" "likely benign" "" "0000805505" "0" "30" "12" "108962636" "108962636" "subst" "0.000278997" "01943" "ISCU_000006" "g.108962636C>T" "" "" "" "ISCU(NM_014301.4):c.373C>T (p.L125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862783" "0" "30" "12" "108956408" "108956408" "subst" "0.00201954" "01804" "SART3_000013" "g.108956408G>C" "" "" "" "ISCU(NM_001301140.1):c.10G>C (p.(Ala4Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862784" "0" "30" "12" "108961477" "108961477" "subst" "0" "01943" "ISCU_000007" "g.108961477A>G" "" "" "" "ISCU(NM_001320042.1):c.462A>G (p.P154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ISCU ## Count = 33 "{{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}}" "0000171989" "00010158" "90" "212" "0" "212" "0" "c.212G>T" "r.(?)" "p.(Gly71Val)" "4" "0000171998" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000171999" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172000" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172001" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.(?)" "p.(Met115Lysfs*16)" "5i" "0000172002" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.spl" "p.fs*" "5i" "0000172003" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172004" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172005" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172006" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172007" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172008" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172009" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172010" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172011" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.343_344ins343+390_343+489" "p.Met115Lysfs*16" "5i" "0000172012" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172013" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172014" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172015" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172016" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172017" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172018" "00010158" "95" "343" "382" "343" "382" "c.343+382G>C" "r.[343_344ins343+390_343+489,343_344ins343+390_343+475]" "p.Met115Lysfs*16" "5i" "0000172019" "00010158" "95" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Glu)" "3" "0000281564" "00010158" "10" "-58" "17" "-58" "17" "c.-58+17dup" "r.(=)" "p.(=)" "" "0000281565" "00010158" "10" "-153" "0" "-153" "0" "c.-153T>G" "r.(?)" "p.(=)" "" "0000297901" "00010158" "10" "-1747" "0" "-1747" "0" "c.-1747C>T" "r.(?)" "p.(=)" "" "0000297904" "00010158" "10" "-1708" "0" "-1708" "0" "c.-1708G>C" "r.(?)" "p.(=)" "" "0000546359" "00010158" "10" "-152" "0" "-152" "0" "c.-152T>G" "r.(?)" "p.(=)" "" "0000546360" "00010158" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Val47Ile)" "" "0000546361" "00010158" "30" "234" "0" "234" "0" "c.234A>G" "r.(?)" "p.(Ser78=)" "" "0000805505" "00010158" "30" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Leu125=)" "" "0000862783" "00010158" "30" "-162" "0" "-162" "0" "c.-162G>C" "r.(?)" "p.(=)" "" "0000862784" "00010158" "30" "343" "433" "343" "433" "c.343+433A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000106387" "0000171989" "0000106393" "0000171998" "0000106394" "0000171999" "0000106395" "0000172000" "0000106396" "0000172001" "0000106397" "0000172002" "0000106398" "0000172003" "0000106399" "0000172004" "0000106400" "0000172005" "0000106401" "0000172006" "0000106402" "0000172007" "0000106403" "0000172008" "0000106404" "0000172009" "0000106405" "0000172010" "0000106406" "0000172011" "0000106407" "0000172012" "0000106408" "0000172013" "0000106409" "0000172014" "0000106410" "0000172015" "0000106411" "0000172016" "0000106412" "0000172017" "0000106413" "0000172018"