### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IGFALS) # 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}}" "IGFALS" "insulin-like growth factor binding protein, acid labile subunit" "16" "p13.3" "unknown" "NG_011778.1" "UD_132118386936" "" "http://www.LOVD.nl//IGFALS" "Growth Genetics Consortium " "1" "5468" "3483" "601489" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium." "" "g" "http://databases.lovd.nl/shared/refseq/IGFALS_codingDNA.html" "1" "" "A Growth Genetics Consortium gene variant database\r\n
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\r\n" "-1" "" "-1" "00001" "2008-06-13 00:00:00" "00006" "2017-03-10 17:26:28" "00000" "2023-04-16 21:50:28" ## 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}}" "00024154" "IGFALS" "transcript variant 2" "002" "NM_004970.2" "" "NP_004961.1" "" "" "" "-81" "2005" "1818" "1843734" "1840414" "00006" "2016-07-19 13:17:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "04513" "ACLSD" "acid-labile subunit, deficiency of (ACLSD)" "" "615961" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IGFALS" "04513" ## 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}}" "00078535" "" "" "" "1" "" "01604" "{PMID:Schreiner 2013:24296365}, {DOI:Schreiner 2013:10.1159/000355927}" "family history short stature, delayed puberty, immunological disorders" "M" "yes" "Turkey" ">14y" "0" "" "" "Turkish" "24296365-Pat" "00079714" "" "" "" "1" "" "01719" "{PMID:Hwa 2006:16507628}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00079715" "" "" "" "3" "" "01717" "{PMID:Domene 2007:17726072}" "family, 3 siblings" "M" "no" "United States" "" "0" "" "" "white (Norway;Germany)" "" "00079716" "" "" "00079715" "1" "" "01717" "{PMID:Domene 2007:17726072}" "" "M" "no" "United States" "" "0" "" "" "white (Norway;Germany)" "Sib2" "00079717" "" "" "00079715" "1" "" "01717" "{PMID:Domene 2007:17726072}" "" "F" "no" "United States" "" "0" "" "" "white (Norway;Germany)" "Sib3" "00079718" "" "" "" "1" "" "01718" "{PMID:Heath 2008:18303074}" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079719" "" "" "" "1" "" "01718" "{PMID:Heath 2008:18303074}" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079720" "" "" "" "3" "" "01716" "{PMID:van Duyvenvoorde 2008:18463107}" "family, 3 siblings {FILE18463107fam.jpg:3 generation family} (III-1), {FILE18463107agrow.jpg:growth curve}" "M" "yes" "" "" "0" "" "" "Kurdish" "" "00079721" "" "" "00079720" "1" "" "01716" "{PMID:van Duyvenvoorde 2008:18463107}" "{FILE18463107fam.jpg:3 generation family} (III-2), {FILE18463107bgrow.jpg:growth curve}" "M" "yes" "" "" "0" "" "" "Kurdish" "PatIII2" "00079722" "" "" "00079720" "1" "" "01716" "{PMID:van Duyvenvoorde 2008:18463107}" "{FILE18463107fam.jpg:3 generation family} (III-4), {FILE18463107cgrow.jpg:growth curve}" "M" "yes" "" "" "0" "" "" "Kurdish" "PatIII4" "00079723" "" "" "" "1" "" "01719" "{PMID:Fofanova-Gambetti 2009:19129715}" "adopted child" "M" "" "Guatemala" "" "0" "" "" "Mayan, Spain" "Case1" "00079724" "" "" "" "1" "" "01719" "{PMID:Fofanova-Gambetti 2009:19129715}" "" "F" "" "United States" "" "0" "" "" "Jewish;Europe" "Case2" "00079726" "" "" "" "1" "" "00006" "{PMID:David 2010:20389102}" "" "M" "?" "" "" "0" "" "" "" "Pat2" "00079727" "" "" "" "1" "" "01718" "{PMID:Heath 2008:18303074}" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079728" "" "" "" "1" "" "00006" "{PMID:Banerjee 2008:18362293}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079729" "" "" "" "1" "" "01717" "{PMID:Domene 2004:14762184}, {PMID:Domene 2005:16114275}, {PMID:Domene 2007:17213728}" "adopted child" "M" "" "Argentina" "" "0" "" "" "" "" "00079768" "" "" "" "1" "" "01717" "{PMID:David 2010:20389102}" "" "M" "?" "" "" "0" "" "" "Asian" "Pat1" "00269863" "" "" "" "2" "" "00006" "Gallego-Gomez Horm Res 72(Suppl 3):90 in {PMID:Fofanova-Gambetti 2010:20591980}" "family, 2 affected (2M)" "M" "" "Spain" "" "0" "" "" "" "Pats" "00269864" "" "" "" "1" "" "00006" "Bang Horm Res 72(Suppl 3):86 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat16" "00269865" "" "" "" "1" "" "00006" "Bang Horm Res 72(Suppl 3):86 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "M" "" "Sweden" "" "0" "" "" "" "Pat17" "00291399" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304506" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00078535" "04255" "00079714" "04184" "00079715" "04184" "00079716" "04184" "00079717" "04184" "00079718" "04184" "00079719" "04184" "00079720" "04184" "00079721" "04184" "00079722" "04184" "00079723" "04184" "00079724" "00198" "00079726" "00198" "00079727" "04184" "00079728" "00000" "00079729" "04184" "00079768" "00198" "00269863" "00198" "00269864" "00198" "00269865" "00198" "00291399" "00198" "00304506" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04184, 04255, 04513 ## Count = 20 "{{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}}" "0000058311" "04255" "00078535" "01604" "Familial, autosomal recessive" "" "pancytopenia (HP:0001876), leg pain (HP:?), nonitching rash on the right lower leg (HP:?), mild respiratory symptoms including runny nose and sneezing(HP:?), red-colored urine (HP:?), splenomegaly (HP:0001744), petechiae (HP:0000967), pancytopenia (HP:0001876), scaling eczemas (HP:0000964), proteinuria (HP:0000093)," "01y" "" "bilateral orchidopexy (HP:?), idiopathic facial nerve palsy (HP:0010628), mycosis pedis (HP:?), pollinosis (HP:?)" "" "" "" "" "" "" "" "" "0000059425" "04184" "00079714" "01719" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059426" "04184" "00079715" "01717" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059427" "04184" "00079716" "01717" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059428" "04184" "00079717" "01717" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059429" "04184" "00079718" "01718" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059430" "04184" "00079719" "01718" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059431" "04184" "00079720" "01716" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal; dysmorphic face w/mandibular hypoplasia, prominent forehead" "" "" "" "" "" "" "" "" "" "" "" "0000059432" "04184" "00079721" "01716" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059433" "04184" "00079722" "01716" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal; dysmorphic face w/mandibular hypoplasia, prominent forehead" "" "" "" "" "" "" "" "" "" "" "" "0000059434" "04184" "00079723" "01719" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059435" "00198" "00079724" "01719" "Familial, autosomal recessive" "" "see paper; ..., delayed growth" "" "" "" "" "" "" "" "" "" "" "" "0000059437" "00198" "00079726" "00006" "Familial, autosomal recessive" "10y08m" "see paper; ..., delayed growth" "" "" "" "" "" "" "" "" "" "short stature" "" "0000059438" "04184" "00079727" "01718" "Familial, autosomal recessive" "" "short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059439" "00000" "00079728" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059440" "04184" "00079729" "01717" "Unknown" "" "mild micrognathia, truncal obesity; short stature, idiopathic, autosomal" "" "" "" "" "" "" "" "" "" "" "" "0000059479" "00198" "00079768" "01717" "Familial, autosomal recessive" "" "delayed growth" "" "" "" "" "" "" "" "" "" "" "" "0000207657" "00198" "00269863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "short stature" "" "0000207658" "00198" "00269864" "00006" "Familial, autosomal recessive" "11y05m" "" "" "" "" "" "" "" "" "" "" "short stature" "" "0000207659" "00198" "00269865" "00006" "Familial, autosomal recessive" "12y06m" "" "" "" "" "" "" "" "" "" "" "short stature" "" ## 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}}" "0000078710" "00078535" "1" "01604" "01604" "2016-07-19 11:09:15" "" "" "SEQ;Western" "DNA" "" "" "0000079788" "00079714" "1" "01719" "01719" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079789" "00079715" "1" "01717" "01717" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079790" "00079716" "1" "01717" "01717" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079791" "00079717" "1" "01717" "01717" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079792" "00079718" "1" "01718" "01718" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079793" "00079719" "1" "01718" "01718" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079794" "00079720" "1" "01716" "01716" "2008-06-13 17:29:35" "00002" "2008-09-21 17:52:18" "SEQ" "DNA" "" "" "0000079795" "00079721" "1" "01716" "01716" "2008-06-13 17:29:35" "00002" "2008-09-21 17:54:55" "SEQ" "DNA" "" "" "0000079796" "00079722" "1" "01716" "01716" "2008-06-13 17:29:35" "00002" "2008-09-21 17:55:41" "SEQ" "DNA" "" "" "0000079797" "00079723" "1" "01719" "01719" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079798" "00079724" "1" "01719" "01719" "2008-06-13 17:29:35" "00002" "2009-06-26 08:47:35" "SEQ" "DNA" "" "" "0000079800" "00079726" "1" "00006" "00006" "2008-06-13 17:29:35" "00002" "2009-06-26 08:49:51" "SEQ" "DNA" "" "" "0000079801" "00079727" "1" "01718" "01718" "2008-06-13 17:29:35" "" "" "SEQ" "DNA" "" "" "0000079802" "00079728" "1" "00006" "00006" "2008-09-12 18:44:29" "" "" "DHPLC" "DNA" "" "" "0000079803" "00079729" "1" "01717" "01717" "2008-06-13 17:29:35" "00002" "2016-08-19 14:59:21" "SEQ" "DNA" "" "" "0000079842" "00079768" "1" "01717" "01717" "2009-06-26 09:20:06" "" "" "SEQ" "DNA" "" "" "0000271016" "00269863" "1" "00006" "00006" "2019-12-08 13:57:31" "" "" "SEQ" "DNA" "" "" "0000271017" "00269864" "1" "00006" "00006" "2019-12-08 14:04:48" "" "" "SEQ" "DNA" "" "" "0000271018" "00269865" "1" "00006" "00006" "2019-12-08 14:07:51" "" "" "SEQ" "DNA" "" "" "0000292567" "00291399" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305635" "00304506" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000078710" "IGFALS" "0000079788" "IGFALS" "0000079789" "IGFALS" "0000079790" "IGFALS" "0000079791" "IGFALS" "0000079792" "IGFALS" "0000079793" "IGFALS" "0000079794" "IGFALS" "0000079795" "IGFALS" "0000079796" "IGFALS" "0000079797" "IGFALS" "0000079798" "IGFALS" "0000079800" "IGFALS" "0000079801" "IGFALS" "0000079802" "IGFALS" "0000079803" "IGFALS" "0000079842" "IGFALS" "0000271016" "IGFALS" "0000271017" "IGFALS" "0000271018" "IGFALS" ## 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 = 83 "{{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}}" "0000125816" "3" "70" "16" "1841985" "1841985" "subst" "0" "01604" "IGFALS_000029" "g.1841985G>T" "" "{PMID:Schreiner 2013:24296365}, {DOI:Schreiner 2013:10.1159/000355927}" "" "" "" "Germline" "" "" "0" "" "" "g.1791984G>T" "" "likely pathogenic" "" "0000128571" "3" "90" "16" "1841101" "1841101" "subst" "0.0000216056" "01719" "IGFALS_000003" "g.1841101C>T" "" "{PMID:Hwa 2006:16507628}, Ref: Dr Gabriele Haeusler (Vienna, Austria)" "" "" "" "Germline" "" "" "0" "" "" "g.1791100C>T" "" "pathogenic (recessive)" "" "0000128572" "1" "90" "16" "1840801" "1840801" "subst" "0.00000580808" "01717" "IGFALS_000005" "g.1840801A>G" "" "{PMID:Domene 2007:17726072}, {OMIM601489:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.1790800A>G" "" "pathogenic" "" "0000128573" "1" "90" "16" "1840801" "1840801" "subst" "0.00000580808" "01717" "IGFALS_000005" "g.1840801A>G" "" "{PMID:Domene 2007:17726072}, {OMIM601489:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.1790800A>G" "" "pathogenic" "" "0000128574" "1" "90" "16" "1840801" "1840801" "subst" "0.00000580808" "01717" "IGFALS_000005" "g.1840801A>G" "" "{PMID:Domene 2007:17726072}, {OMIM601489:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.1790800A>G" "" "pathogenic" "" "0000128575" "3" "90" "16" "1841592" "1841592" "subst" "0.0000607873" "01718" "IGFALS_000011" "g.1841592T>C" "" "{PMID:Heath 2008:18303074}" "" "" "" "Germline" "" "" "0" "" "" "g.1791591T>C" "" "pathogenic (recessive)" "" "0000128576" "3" "90" "16" "1841461" "1841461" "subst" "0.0000040997" "01718" "IGFALS_000012" "g.1841461G>A" "" "{PMID:Heath 2008:18303074}" "" "" "" "Germline" "" "" "0" "" "" "g.1791460G>A" "" "pathogenic (recessive)" "" "0000128577" "3" "90" "16" "1840930" "1840930" "dup" "0" "01716" "IGFALS_000004" "g.1840930dup" "" "{PMID:van Duyvenvoorde 2008:18463107}, ESPE 2007" "" "" "" "Germline" "" "" "0" "" "" "g.1790929dup" "" "pathogenic (recessive)" "" "0000128578" "3" "90" "16" "1840930" "1840930" "dup" "0" "01716" "IGFALS_000004" "g.1840930dup" "" "{PMID:van Duyvenvoorde 2008:18463107}, ESPE 2007" "" "" "" "Germline" "" "" "0" "" "" "g.1790929dup" "" "pathogenic (recessive)" "" "0000128579" "3" "90" "16" "1840930" "1840930" "dup" "0" "01716" "IGFALS_000004" "g.1840930dup" "" "{PMID:van Duyvenvoorde 2008:18463107}, ESPE 2007" "" "" "" "Germline" "" "" "0" "" "" "g.1790929dup" "" "pathogenic (recessive)" "" "0000128580" "3" "90" "16" "1841109" "1841117" "dup" "0" "01719" "IGFALS_000002" "g.1841109_1841117dup" "" "{PMID:Fofanova-Gambetti 2009:19129715}, Ref: Dr S. Kirsch (Toronto, Canada)" "" "1308_1316dupGCTGGAGCT" "" "Germline" "" "" "0" "" "" "g.1791108_1791116dup" "" "pathogenic (recessive)" "" "0000128581" "1" "90" "16" "1842241" "1842241" "subst" "0" "01719" "IGFALS_000013" "g.1842241A>T" "" "{PMID:Fofanova-Gambetti 2009:19129715}, Ref: Dr C. Pihoker (Seattle, WA)" "" "" "" "Germline" "" "" "0" "" "" "g.1792240A>T" "" "pathogenic (recessive)" "" "0000128583" "1" "90" "16" "1842018" "1842018" "subst" "0" "00006" "IGFALS_000007" "g.1842018A>T" "" "{PMID:David 2010:20389102}" "" "" "" "Germline" "" "" "0" "" "" "g.1792017A>T" "" "pathogenic (recessive)" "" "0000128584" "3" "90" "16" "1841592" "1841592" "subst" "0.0000607873" "01718" "IGFALS_000011" "g.1841592T>C" "" "{PMID:Heath 2008:18303074}" "" "" "" "Germline" "" "" "0" "" "" "g.1791591T>C" "" "pathogenic (recessive)" "" "0000128585" "1" "10" "16" "1842209" "1842209" "subst" "0" "00006" "IGFALS_000014" "g.1842209G>A" "0.16" "{PMID:Banerjee 2008:18362293}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3751893" "0" "" "" "g.1792208G>A" "" "benign" "" "0000128625" "3" "90" "16" "1842201" "1842201" "subst" "0.0000342545" "01717" "IGFALS_000006" "g.1842201G>A" "" "{PMID:David 2010:20389102}" "" "" "" "Germline" "" "" "0" "" "" "g.1792200G>A" "" "pathogenic (recessive)" "" "0000128728" "2" "90" "16" "1841830" "1841838" "dup" "0" "01717" "IGFALS_000008" "g.1841830_1841838dup" "" "{PMID:Domene 2007:17726072}, {OMIM601489:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.1791829_1791837dup" "" "pathogenic" "" "0000128729" "2" "90" "16" "1841830" "1841838" "dup" "0" "01717" "IGFALS_000008" "g.1841830_1841838dup" "" "{PMID:Domene 2007:17726072}, {OMIM601489:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.1791829_1791837dup" "" "pathogenic" "" "0000128730" "2" "90" "16" "1841830" "1841838" "dup" "0" "01717" "IGFALS_000008" "g.1841830_1841838dup" "" "{PMID:Domene 2007:17726072}, {OMIM601489:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.1791829_1791837dup" "" "pathogenic" "" "0000128737" "2" "90" "16" "1841689" "1841689" "subst" "0.0000162348" "01719" "IGFALS_000010" "g.1841689G>A" "" "{PMID:Fofanova-Gambetti 2009:19129715}, Ref: Dr C. Pihoker (Seattle, WA)" "" "" "" "Germline" "" "" "0" "" "" "g.1791688G>A" "" "pathogenic (recessive)" "" "0000128739" "2" "90" "16" "1841871" "1841873" "delins" "0" "00006" "IGFALS_000039" "g.1841871_1841873delinsCT" "" "{PMID:David 2010:20389102}" "" "546-548delGGCinsAG" "" "Germline" "" "" "0" "" "" "g.1791870_1791872delinsCT" "" "pathogenic (recessive)" "" "0000128741" "3" "90" "16" "1842320" "1842320" "del" "0" "01717" "IGFALS_000001" "g.1842320del" "" "{PMID:Domene 2004:14762184}, {PMID:Domene 2005:16114275}, {PMID:Domene 2007:17213728}, {OMIM601489:0001}" "" "1338delG" "" "Germline" "" "" "0" "" "" "g.1792319del" "" "pathogenic (recessive)" "" "0000128804" "1" "50" "16" "1841204" "1841204" "subst" "0" "00006" "IGFALS_000021" "g.1841204G>A" "0-0.01" "" "" "" "" "Germline" "" "rs34139827" "0" "" "" "g.1791203G>A" "" "VUS" "" "0000128805" "1" "50" "16" "1841033" "1841033" "subst" "0.143932" "00006" "IGFALS_000020" "g.1841033G>A" "0.09-0.49" "" "" "" "" "Germline" "" "rs17559" "0" "" "" "g.1791032G>A" "" "VUS" "" "0000128806" "1" "50" "16" "1840994" "1840994" "subst" "0.00463557" "00006" "IGFALS_000019" "g.1840994C>T" "0-0.02" "" "" "" "" "Germline" "" "rs9282729" "0" "" "" "g.1790993C>T" "" "VUS" "" "0000128807" "1" "50" "16" "1840960" "1840960" "subst" "0" "00006" "IGFALS_000018" "g.1840960G>A" "0-0.02" "" "" "" "" "Germline" "" "rs35393265" "0" "" "" "g.1790959G>A" "" "VUS" "" "0000128808" "1" "50" "16" "1840927" "1840927" "subst" "0.000354801" "00006" "IGFALS_000017" "g.1840927G>A" "0-0.02" "" "" "" "" "Germline" "" "rs9282730" "0" "" "" "g.1790926G>A" "" "VUS" "" "0000128809" "1" "50" "16" "1840853" "1840853" "subst" "0.0179774" "00006" "IGFALS_000016" "g.1840853C>T" "0.04-0.08" "" "" "" "" "Germline" "" "rs2230053" "0" "" "" "g.1790852C>T" "" "VUS" "" "0000128810" "1" "50" "16" "1840777" "1840777" "subst" "0.0293612" "00006" "IGFALS_000015" "g.1840777G>A" "0.02-0.17" "" "" "" "" "Germline" "" "rs9282731" "0" "" "" "g.1790776G>A" "" "VUS" "" "0000128811" "1" "50" "16" "1842254" "1842254" "subst" "0" "00006" "IGFALS_000026" "g.1842254C>T" "0-0.02" "" "" "" "" "Germline" "" "rs36098011" "0" "" "" "g.1792253C>T" "" "VUS" "" "0000128812" "1" "50" "16" "1842130" "1842130" "subst" "0.00461475" "00006" "IGFALS_000025" "g.1842130G>A" "0-0.07" "" "" "" "" "Germline" "" "rs35947557" "0" "" "" "g.1792129G>A" "" "VUS" "" "0000128813" "1" "50" "16" "1842386" "1842386" "subst" "0.00320611" "00006" "IGFALS_000027" "g.1842386C>T" "0-0.04" "" "" "" "" "Germline" "" "rs9282732" "0" "" "" "g.1792385C>T" "" "VUS" "" "0000128814" "1" "50" "16" "1841618" "1841618" "subst" "0.00538187" "00006" "IGFALS_000024" "g.1841618C>T" "0-0.04" "" "" "" "" "Germline" "" "rs35632685" "0" "" "" "g.1791617C>T" "" "VUS" "" "0000128815" "1" "50" "16" "1841499" "1841499" "subst" "0.000227681" "00006" "IGFALS_000023" "g.1841499G>A" "0-0.01" "" "" "" "" "Germline" "" "rs34297640" "0" "" "" "g.1791498G>A" "" "VUS" "" "0000128816" "1" "50" "16" "1841480" "1841480" "subst" "0" "00006" "IGFALS_000022" "g.1841480C>A" "0-0.01" "" "" "" "" "Germline" "" "rs35078715" "0" "" "" "g.1791479C>A" "" "VUS" "" "0000253481" "0" "10" "16" "1842209" "1842209" "subst" "0.798014" "01943" "IGFALS_000035" "g.1842209A>G" "" "" "" "IGFALS(NM_004970.2):c.210T>C (p.D70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1792208A>G" "" "benign" "" "0000289512" "0" "10" "16" "1843672" "1843672" "subst" "0.676533" "01943" "IGFALS_000038" "g.1843672T>C" "" "" "" "IGFALS(NM_004970.2):c.-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1793671T>C" "" "benign" "" "0000289513" "0" "50" "16" "1841286" "1841286" "subst" "0.0000248517" "01943" "IGFALS_000032" "g.1841286G>A" "" "" "" "IGFALS(NM_004970.2):c.1133C>T (p.P378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1791285G>A" "" "VUS" "" "0000289514" "0" "10" "16" "1841033" "1841033" "subst" "0.143932" "01943" "IGFALS_000020" "g.1841033G>A" "" "" "" "IGFALS(NM_004970.2):c.1386C>T (p.Y462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1791032G>A" "" "benign" "" "0000289515" "0" "50" "16" "1842222" "1842222" "subst" "0.0000172513" "01943" "IGFALS_000036" "g.1842222G>T" "" "" "" "IGFALS(NM_004970.2):c.197C>A (p.T66K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1792221G>T" "" "VUS" "" "0000289516" "0" "30" "16" "1841559" "1841559" "subst" "0.00348617" "01943" "IGFALS_000033" "g.1841559G>A" "" "" "" "IGFALS(NM_001146006.1):c.974C>T (p.(Pro325Leu)), IGFALS(NM_004970.2):c.860C>T (p.P287L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1791558G>A" "" "likely benign" "" "0000324441" "0" "50" "16" "1837837" "1837837" "subst" "0.0107235" "01804" "NUBP2_000001" "g.1837837C>T" "" "" "" "NUBP2(NM_012225.2):c.489+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1787836C>T" "" "VUS" "" "0000324443" "0" "50" "16" "1840893" "1840893" "subst" "0.00107775" "01804" "IGFALS_000031" "g.1840893C>T" "" "" "" "IGFALS(NM_001146006.1):c.1640G>A (p.(Arg547His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1790892C>T" "" "VUS" "" "0000324445" "0" "50" "16" "1842405" "1842405" "subst" "0.00115478" "01804" "IGFALS_000037" "g.1842405G>A" "" "" "" "IGFALS(NM_001146006.1):c.128C>T (p.(Ala43Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1792404G>A" "" "VUS" "" "0000557019" "0" "30" "16" "1837815" "1837815" "subst" "0.00000821564" "01804" "NUBP2_000002" "g.1837815G>A" "" "" "" "NUBP2(NM_012225.2):c.472G>A (p.(Val158Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1787814G>A" "" "likely benign" "" "0000557020" "0" "10" "16" "1840777" "1840777" "subst" "0.0293612" "01804" "IGFALS_000015" "g.1840777G>A" "" "" "" "IGFALS(NM_001146006.1):c.1756C>T (p.(Arg586Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1790776G>A" "" "benign" "" "0000557021" "0" "50" "16" "1840864" "1840864" "subst" "0" "01943" "IGFALS_000030" "g.1840864G>A" "" "" "" "IGFALS(NM_001146006.1):c.1669C>T (p.R557W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1790863G>A" "" "VUS" "" "0000557024" "0" "50" "16" "1841532" "1841532" "subst" "0.0000307276" "01804" "NUBP2_000005" "g.1841532C>T" "" "" "" "IGFALS(NM_004970.2):c.887G>A (p.(Arg296Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1791531C>T" "" "VUS" "" "0000557025" "0" "70" "16" "1841533" "1841533" "subst" "0.0000153868" "01804" "NUBP2_000006" "g.1841533G>A" "" "" "" "IGFALS(NM_001146006.1):c.1000C>T (p.(Arg334Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1791532G>A" "" "likely pathogenic" "" "0000557026" "0" "30" "16" "1841559" "1841559" "subst" "0.00348617" "01804" "IGFALS_000033" "g.1841559G>A" "" "" "" "IGFALS(NM_001146006.1):c.974C>T (p.(Pro325Leu)), IGFALS(NM_004970.2):c.860C>T (p.P287L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1791558G>A" "" "likely benign" "" "0000557027" "0" "50" "16" "1841590" "1841590" "subst" "0.000122063" "01943" "NUBP2_000007" "g.1841590G>A" "" "" "" "IGFALS(NM_001146006.1):c.943C>T (p.R315C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1791589G>A" "" "VUS" "" "0000557028" "0" "30" "16" "1842454" "1842454" "subst" "0.0209921" "01804" "NUBP2_000008" "g.1842454G>A" "" "" "" "IGFALS(NM_001146006.1):c.79C>T (p.(His27Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1792453G>A" "" "likely benign" "" "0000615815" "0" "70" "16" "1840801" "1840801" "subst" "0.00000580808" "01804" "IGFALS_000005" "g.1840801A>G" "" "" "" "IGFALS(NM_001146006.1):c.1732T>C (p.(Cys578Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1790800A>G" "" "likely pathogenic" "" "0000615816" "0" "50" "16" "1841545" "1841545" "subst" "0.0000269911" "01943" "NUBP2_000010" "g.1841545G>C" "" "" "" "IGFALS(NM_001146006.1):c.988C>G (p.L330V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1791544G>C" "" "VUS" "" "0000615817" "0" "50" "16" "1841549" "1841549" "dup" "0" "01943" "NUBP2_000011" "g.1841549dup" "" "" "" "IGFALS(NM_001146006.1):c.986dupG (p.L330Pfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1791548dup" "" "VUS" "" "0000624854" "1" "90" "16" "1842320" "1842320" "dup" "0" "00006" "IGFALS_000040" "g.1842320dup" "" "Gallego-Gomez Horm Res 72(Suppl 3):90 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "103_104insG" "" "Germline" "yes" "" "0" "" "" "g.1792319dup" "" "pathogenic (recessive)" "" "0000624855" "2" "90" "16" "1841592" "1841592" "subst" "0.0000607873" "00006" "IGFALS_000011" "g.1841592T>C" "" "Gallego-Gomez Horm Res 72(Suppl 3):90 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1791591T>C" "" "pathogenic (recessive)" "" "0000624856" "3" "90" "16" "1841905" "1841905" "subst" "0.0000288514" "00006" "IGFALS_000041" "g.1841905G>A" "" "Bang Horm Res 72(Suppl 3):86 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "" "" "Germline" "" "" "0" "" "" "g.1791904G>A" "" "pathogenic (recessive)" "" "0000624857" "1" "90" "16" "1841905" "1841905" "subst" "0.0000288514" "00006" "IGFALS_000041" "g.1841905G>A" "" "Bang Horm Res 72(Suppl 3):86 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "" "" "Germline" "" "" "0" "" "" "g.1791904G>A" "" "pathogenic (recessive)" "" "0000624858" "2" "90" "16" "1841830" "1841838" "dup" "0" "00006" "IGFALS_000008" "g.1841830_1841838dup" "" "Bang Horm Res 72(Suppl 3):86 in {PMID:Fofanova-Gambetti 2010:20591980}" "" "Ser195_Arg197dup" "" "Germline" "" "" "0" "" "" "g.1791829_1791837dup" "" "pathogenic (recessive)" "" "0000649256" "1" "50" "16" "1841499" "1841499" "subst" "0.000227681" "03575" "IGFALS_000023" "g.1841499G>A" "32/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous; {DB:CLININrs34297640}" "Germline" "" "rs34297640" "0" "" "" "g.1791498G>A" "" "VUS" "" "0000669323" "3" "50" "16" "1841499" "1841499" "subst" "0.000227681" "03575" "IGFALS_000023" "g.1841499G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34297640}" "Germline" "" "rs34297640" "0" "" "" "g.1791498G>A" "" "VUS" "" "0000680436" "0" "30" "16" "1840983" "1840983" "subst" "0.00140991" "01804" "NUBP2_000012" "g.1840983C>T" "" "" "" "IGFALS(NM_001146006.1):c.1550G>A (p.(Gly517Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691961" "0" "50" "16" "1841424" "1841424" "subst" "0.000012286" "01804" "NUBP2_000013" "g.1841424C>G" "" "" "" "IGFALS(NM_001146006.1):c.1109G>C (p.(Arg370Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725506" "0" "50" "16" "1840903" "1840903" "subst" "0.000964952" "01804" "NUBP2_000014" "g.1840903C>T" "" "" "" "IGFALS(NM_001146006.1):c.1630G>A (p.(Gly544Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725507" "0" "50" "16" "1841221" "1841221" "subst" "0.0000207866" "01804" "NUBP2_000015" "g.1841221G>A" "" "" "" "IGFALS(NM_004970.2):c.1198C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725508" "0" "50" "16" "1841424" "1841424" "subst" "0.000012286" "02329" "NUBP2_000016" "g.1841424C>T" "" "" "" "IGFALS(NM_001146006.2):c.1109G>A (p.R370H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725509" "0" "30" "16" "1841488" "1841488" "subst" "0.00000413688" "01804" "NUBP2_000017" "g.1841488T>C" "" "" "" "IGFALS(NM_001146006.1):c.1045A>G (p.(Lys349Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807124" "0" "30" "16" "1840711" "1840711" "subst" "0.00077522" "01804" "NUBP2_000018" "g.1840711C>T" "" "" "" "IGFALS(NM_001146006.1):c.1822G>A (p.(Asp608Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807125" "0" "50" "16" "1840851" "1840851" "subst" "0" "01943" "NUBP2_000019" "g.1840851G>A" "" "" "" "IGFALS(NM_001146006.1):c.1682C>T (p.P561L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807126" "0" "30" "16" "1841299" "1841299" "subst" "0" "01804" "NUBP2_000020" "g.1841299G>T" "" "" "" "IGFALS(NM_001146006.1):c.1234C>A (p.(Leu412Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807127" "0" "30" "16" "1841503" "1841503" "subst" "0" "02327" "NUBP2_000021" "g.1841503G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841669" "0" "30" "16" "1841062" "1841062" "subst" "0.000888912" "03779" "NUBP2_000003" "g.1841062G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs149707428" "0" "" "" "" "" "likely benign" "" "0000854313" "0" "50" "16" "1841730" "1841730" "subst" "0" "02327" "NUBP2_000023" "g.1841730A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864349" "0" "50" "16" "1841296" "1841296" "subst" "0.000223684" "01804" "NUBP2_000022" "g.1841296G>A" "" "" "" "IGFALS(NM_001146006.1):c.1237C>T (p.(Arg413Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864351" "0" "50" "16" "1842018" "1842018" "subst" "0" "01804" "IGFALS_000007" "g.1842018A>T" "" "" "" "IGFALS(NM_001146006.1):c.515T>A (p.(Leu172Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864352" "0" "30" "16" "1842130" "1842130" "subst" "0.00461475" "01804" "IGFALS_000025" "g.1842130G>A" "" "" "" "IGFALS(NM_001146006.1):c.403C>T (p.(Leu135Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864353" "0" "30" "16" "1842265" "1842265" "subst" "0.000100761" "01804" "NUBP2_000024" "g.1842265C>T" "" "" "" "IGFALS(NM_001146006.1):c.268G>A (p.(Asp90Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878334" "0" "50" "16" "1841467" "1841467" "subst" "0" "03779" "IGFALS_000042" "g.1841467C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs897198501" "0" "" "" "" "" "VUS" "" "0000892595" "0" "50" "16" "1840900" "1840900" "subst" "0" "01804" "NUBP2_000025" "g.1840900G>A" "" "" "" "IGFALS(NM_001146006.1):c.1633C>T (p.(Arg545Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926158" "0" "30" "16" "1836663" "1836663" "subst" "0.0203632" "01804" "NUBP2_000026" "g.1836663G>A" "" "" "" "NUBP2(NM_001284501.1):c.-46+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926159" "0" "30" "16" "1840994" "1840994" "subst" "0.00463557" "01804" "IGFALS_000019" "g.1840994C>T" "" "" "" "IGFALS(NM_001146006.1):c.1539G>A (p.(Ala513=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926160" "0" "50" "16" "1842310" "1842310" "subst" "0.000036355" "02325" "NUBP2_000027" "g.1842310C>T" "" "" "" "IGFALS(NM_004970.3):c.109G>A (p.E37K)" "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 IGFALS ## Count = 83 "{{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}}" "0000125816" "00024154" "70" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Thr145Lys)" "2" "0000128571" "00024154" "90" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Asp440Asn)" "2" "0000128572" "00024154" "90" "1618" "0" "1618" "0" "c.1618T>C" "r.(?)" "p.(Cys540Arg)" "2" "0000128573" "00024154" "90" "1618" "0" "1618" "0" "c.1618T>C" "r.(?)" "p.(Cys540Arg)" "2" "0000128574" "00024154" "90" "1618" "0" "1618" "0" "c.1618T>C" "r.(?)" "p.(Cys540Arg)" "2" "0000128575" "00024154" "90" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "2" "0000128576" "00024154" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Gln320*)" "2" "0000128577" "00024154" "90" "1490" "0" "1490" "0" "c.1490dup" "r.(?)" "p.(Leu497Phefs*40)" "2" "0000128578" "00024154" "90" "1490" "0" "1490" "0" "c.1490dup" "r.(?)" "p.(Leu497Phefs*40)" "2" "0000128579" "00024154" "90" "1490" "0" "1490" "0" "c.1490dup" "r.(?)" "p.(Leu497Phefs*40)" "2" "0000128580" "00024154" "90" "1308" "0" "1316" "0" "c.1308_1316dup" "r.(?)" "p.(Leu437_Leu439dup)" "2" "0000128581" "00024154" "90" "178" "0" "178" "0" "c.178T>A" "r.(?)" "p.(Cys60Ser)" "2" "0000128583" "00024154" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Leu134Gln)" "2" "0000128584" "00024154" "90" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "2" "0000128585" "00024154" "10" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(=)" "2" "0000128625" "00024154" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Pro73Leu)" "2" "0000128728" "00024154" "90" "583" "0" "591" "0" "c.583_591dup" "r.(?)" "p.(Ser195_Arg197dup)" "2" "0000128729" "00024154" "90" "583" "0" "591" "0" "c.583_591dup" "r.(?)" "p.(Ser195_Arg197dup)" "2" "0000128730" "00024154" "90" "583" "0" "591" "0" "c.583_591dup" "r.(?)" "p.(Ser195_Arg197dup)" "2" "0000128737" "00024154" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "2" "0000128739" "00024154" "90" "546" "0" "548" "0" "c.546_548delinsAG" "r.(?)" "p.(Ala183Glyfs*43)" "2" "0000128741" "00024154" "90" "103" "0" "103" "0" "c.103del" "r.(?)" "p.(Glu35Lysfs*87)" "2" "0000128804" "00024154" "50" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(=)" "2" "0000128805" "00024154" "50" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(=)" "2" "0000128806" "00024154" "50" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(=)" "2" "0000128807" "00024154" "50" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(=)" "2" "0000128808" "00024154" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Pro498Ser)" "2" "0000128809" "00024154" "50" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(=)" "2" "0000128810" "00024154" "50" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Arg548Trp)" "2" "0000128811" "00024154" "50" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(=)" "2" "0000128812" "00024154" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Leu97Phe)" "2" "0000128813" "00024154" "50" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(=)" "2" "0000128814" "00024154" "50" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(=)" "2" "0000128815" "00024154" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "2" "0000128816" "00024154" "50" "939" "0" "939" "0" "c.939G>T" "r.(?)" "p.(=)" "2" "0000253481" "00024154" "10" "210" "0" "210" "0" "c.210T>C" "r.(?)" "p.(Asp70=)" "" "0000289512" "00024154" "10" "-19" "0" "-19" "0" "c.-19A>G" "r.(?)" "p.(=)" "" "0000289513" "00024154" "50" "1133" "0" "1133" "0" "c.1133C>T" "r.(?)" "p.(Pro378Leu)" "" "0000289514" "00024154" "10" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Tyr462=)" "" "0000289515" "00024154" "50" "197" "0" "197" "0" "c.197C>A" "r.(?)" "p.(Thr66Lys)" "" "0000289516" "00024154" "30" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Pro287Leu)" "" "0000324441" "00024154" "50" "4582" "0" "4582" "0" "c.*2764G>A" "r.(=)" "p.(=)" "" "0000324443" "00024154" "50" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Arg509His)" "" "0000324445" "00024154" "50" "17" "-3" "17" "-3" "c.17-3C>T" "r.spl?" "p.?" "" "0000557019" "00024154" "30" "4604" "0" "4604" "0" "c.*2786C>T" "r.(=)" "p.(=)" "" "0000557020" "00024154" "10" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Arg548Trp)" "" "0000557021" "00024154" "50" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Trp)" "" "0000557024" "00024154" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000557025" "00024154" "70" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Arg296Trp)" "" "0000557026" "00024154" "30" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Pro287Leu)" "" "0000557027" "00024154" "50" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" "0000557028" "00024154" "30" "17" "-52" "17" "-52" "c.17-52C>T" "r.(=)" "p.(=)" "" "0000615815" "00024154" "70" "1618" "0" "1618" "0" "c.1618T>C" "r.(?)" "p.(Cys540Arg)" "" "0000615816" "00024154" "50" "874" "0" "874" "0" "c.874C>G" "r.(?)" "p.(Leu292Val)" "" "0000615817" "00024154" "50" "872" "0" "872" "0" "c.872dup" "r.(?)" "p.(Leu292ProfsTer40)" "" "0000624854" "00024154" "90" "103" "0" "103" "0" "c.103dup" "r.(?)" "p.(Glu35Glyfs*17)" "" "0000624855" "00024154" "90" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "" "0000624856" "00024154" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Leu172Phe)" "" "0000624857" "00024154" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Leu172Phe)" "" "0000624858" "00024154" "90" "583" "0" "591" "0" "c.583_591dup" "r.(?)" "p.(Ser195_Arg197dup)" "" "0000649256" "00024154" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "" "0000669323" "00024154" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "" "0000680436" "00024154" "30" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Gly479Asp)" "" "0000691961" "00024154" "50" "995" "0" "995" "0" "c.995G>C" "r.(?)" "p.(Arg332Pro)" "" "0000725506" "00024154" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Gly506Arg)" "" "0000725507" "00024154" "50" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "0000725508" "00024154" "50" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Arg332His)" "" "0000725509" "00024154" "30" "931" "0" "931" "0" "c.931A>G" "r.(?)" "p.(Lys311Glu)" "" "0000807124" "00024154" "30" "1708" "0" "1708" "0" "c.1708G>A" "r.(?)" "p.(Asp570Asn)" "" "0000807125" "00024154" "50" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Pro523Leu)" "" "0000807126" "00024154" "30" "1120" "0" "1120" "0" "c.1120C>A" "r.(?)" "p.(Leu374Ile)" "" "0000807127" "00024154" "30" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Trp)" "" "0000841669" "00024154" "30" "1357" "0" "1357" "0" "c.1357C>G" "r.(?)" "p.(Leu453Val)" "" "0000854313" "00024154" "50" "689" "0" "689" "0" "c.689T>G" "r.(?)" "p.(Leu230Arg)" "" "0000864349" "00024154" "50" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375Trp)" "" "0000864351" "00024154" "50" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Leu134Gln)" "" "0000864352" "00024154" "30" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Leu97Phe)" "" "0000864353" "00024154" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Asp52Asn)" "" "0000878334" "00024154" "50" "952" "0" "952" "0" "c.952G>C" "r.(?)" "p.(Glu318Gln)" "" "0000892595" "00024154" "50" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Trp)" "" "0000926158" "00024154" "30" "5756" "0" "5756" "0" "c.*3938C>T" "r.(=)" "p.(=)" "" "0000926159" "00024154" "30" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Ala475=)" "" "0000926160" "00024154" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000078710" "0000125816" "0000079788" "0000128571" "0000079789" "0000128572" "0000079789" "0000128728" "0000079790" "0000128573" "0000079790" "0000128729" "0000079791" "0000128574" "0000079791" "0000128730" "0000079792" "0000128575" "0000079793" "0000128576" "0000079794" "0000128577" "0000079795" "0000128578" "0000079796" "0000128579" "0000079797" "0000128580" "0000079798" "0000128581" "0000079798" "0000128737" "0000079800" "0000128583" "0000079800" "0000128739" "0000079801" "0000128584" "0000079802" "0000128585" "0000079803" "0000128741" "0000079842" "0000128625" "0000271016" "0000624854" "0000271016" "0000624855" "0000271017" "0000624856" "0000271018" "0000624857" "0000271018" "0000624858" "0000292567" "0000649256" "0000305635" "0000669323"