### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIP11) # 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}}" "TRIP11" "thyroid hormone receptor interactor 11" "14" "q31-q32" "unknown" "NG_016970.1" "UD_132118539927" "" "https://www.LOVD.nl/TRIP11" "" "1" "12305" "9321" "604505" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TRIP11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-22 00:10:11" "00006" "2025-11-20 14:15:36" ## 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}}" "00021872" "TRIP11" "thyroid hormone receptor interactor 11" "001" "NM_004239.3" "" "NP_004230.2" "" "" "" "-374" "7714" "5940" "92506403" "92434243" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01619" "ACG1A" "achondrogenesis, type IA (ACG1A)" "AR" "200600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-13 11:07:57" "05479" "ACG" "achondrogenesis (ACG)" "" "" "" "" "" "00006" "2018-10-22 13:52:53" "00006" "2018-10-22 13:53:57" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05688" "ODCD" "odontochondrodysplasia (ODCD, osteochondrodysplasia)" "AR" "184260" "" "" "" "00006" "2020-01-31 09:10:03" "00006" "2021-01-13 11:07:22" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TRIP11" "01619" "TRIP11" "05479" "TRIP11" "05688" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00132077" "" "" "" "1" "" "01396" "" "" "M" "no" "Brazil" "" "0" "" "" "" "1" "00291144" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291145" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291146" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291147" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291148" "" "" "" "144" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304452" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304453" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326447" "" "" "" "1" "" "00738" "" "" "F" "no" "Argentina" "" "0" "" "" "" "" "00326506" "" "" "" "2" "" "00738" "family, 2 affected siblings" "" "" "" "" "" "0" "" "" "" "" "00326507" "" "" "" "1" "" "00738" "" "" "" "" "" "" "0" "" "" "" "" "00331585" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "15DG1394" "00331586" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "16DG0956" "00331587" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "11DG0205" "00469800" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "Fam127" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00132077" "01619" "00291144" "00198" "00291145" "00198" "00291146" "00198" "00291147" "00198" "00291148" "00198" "00304452" "00198" "00304453" "00198" "00326447" "05688" "00326506" "05688" "00326507" "05688" "00331585" "05517" "00331586" "05517" "00331587" "05517" "00469800" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01619, 05479, 05517, 05688 ## Count = 5 "{{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}}" "0000104261" "01619" "00132077" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249777" "05517" "00331585" "00000" "Familial, autosomal recessive" "" "Skeletal dysplasia, Abdominal distention, Limb undergrowth" "" "" "" "" "" "" "" "" "Severe spondylodysplastic dysplasias" "skeletal dysplasia" "" "0000249778" "05517" "00331586" "00000" "Familial, autosomal recessive" "" "Skeletal Dysplasia, Stillbirth" "" "" "" "" "" "" "" "" "Severe spondylodysplastic dysplasias" "skeletal dysplasia" "" "0000249779" "05517" "00331587" "00000" "Familial, autosomal recessive" "" "Thoracic hypoplasia, Recurrent fractures, Blue sclerae, Hepatomegaly, Skeletal dysplasia" "" "" "" "" "" "" "" "" "Severe spondylodysplastic dysplasias" "skeletal dysplasia" "" "0000354945" "05517" "00469800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ODCD1" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000132915" "00132077" "1" "01396" "01396" "2017-10-18 19:27:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000292312" "00291144" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292313" "00291145" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292314" "00291146" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292315" "00291147" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292316" "00291148" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305581" "00304452" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305582" "00304453" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327661" "00326447" "1" "00738" "00738" "2021-01-12 17:57:42" "" "" "SEQ-NG" "DNA" "Blood" "Skeletal dysplasia gene panel" "0000327720" "00326506" "1" "00738" "00006" "2021-01-13 08:51:55" "" "" "SEQ-NG" "DNA" "" "skeletal dysplasia gene panel" "0000327721" "00326507" "1" "00738" "00006" "2021-01-13 08:58:21" "" "" "SEQ-NG" "DNA" "" "skeletal dysplasia gene panel" "0000332804" "00331585" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332805" "00331586" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332806" "00331587" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471468" "00469800" "1" "00006" "00006" "2025-11-20 12:33:13" "00006" "2025-11-20 14:11:26" "SEQ;SEQ-NG" "DNA" "" "duo WES, WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000132915" "TRIP11" "0000327721" "TRIP11" "0000332804" "TRIP11" "0000332805" "TRIP11" "0000332806" "TRIP11" ## 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 = 78 "{{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}}" "0000222100" "10" "70" "14" "92472384" "92472387" "del" "0" "01396" "TRIP11_000001" "g.92472384_92472387del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92006040_92006043del" "" "likely pathogenic" "" "0000222101" "21" "70" "14" "92469811" "92469814" "del" "0" "01396" "TRIP11_000002" "g.92469811_92469814del" "" "" "" "g.92472378del" "" "Germline" "" "" "0" "" "" "g.92003467_92003470del" "" "likely pathogenic" "" "0000312054" "0" "10" "14" "92441066" "92441066" "subst" "0.307062" "02325" "TRIP11_000003" "g.92441066C>T" "" "" "" "TRIP11(NM_004239.4):c.5479G>A (p.G1827S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91974722C>T" "" "benign" "" "0000317110" "0" "30" "14" "92472186" "92472186" "subst" "0.00780906" "01943" "TRIP11_000007" "g.92472186C>T" "" "" "" "TRIP11(NM_001321851.1):c.2131G>A (p.(Glu711Lys)), TRIP11(NM_004239.4):c.2134G>A (p.E712K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92005842C>T" "" "likely benign" "" "0000317112" "0" "30" "14" "92442496" "92442496" "subst" "0.00111271" "01943" "TRIP11_000004" "g.92442496C>A" "" "" "" "TRIP11(NM_004239.4):c.5298G>T (p.K1766N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91976152C>A" "" "likely benign" "" "0000347171" "0" "50" "14" "92477343" "92477343" "subst" "0" "02327" "TRIP11_000008" "g.92477343A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92010999A>G" "" "VUS" "" "0000553374" "0" "30" "14" "92441001" "92441001" "subst" "0" "01804" "TRIP11_000009" "g.92441001C>G" "" "" "" "TRIP11(NM_004239.3):c.5544G>C (p.(Leu1848Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91974657C>G" "" "likely benign" "" "0000553375" "0" "30" "14" "92441601" "92441601" "subst" "0" "01804" "TRIP11_000010" "g.92441601T>C" "" "" "" "TRIP11(NM_004239.3):c.5372A>G (p.(His1791Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91975257T>C" "" "likely benign" "" "0000553376" "0" "10" "14" "92454633" "92454633" "subst" "0.013637" "01804" "TRIP11_000011" "g.92454633C>T" "" "" "" "TRIP11(NM_001321851.1):c.5252G>A (p.(Arg1751Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91988289C>T" "" "benign" "" "0000553378" "0" "30" "14" "92460176" "92460176" "subst" "0.00203052" "01804" "TRIP11_000013" "g.92460176C>G" "" "" "" "TRIP11(NM_001321851.1):c.5134G>C (p.(Glu1712Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91993832C>G" "" "likely benign" "" "0000553380" "0" "30" "14" "92465749" "92465749" "subst" "0.0142939" "01804" "TRIP11_000015" "g.92465749C>T" "" "" "" "TRIP11(NM_004239.3):c.4727G>A (p.(Arg1576His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91999405C>T" "" "likely benign" "" "0000553381" "0" "90" "14" "92469923" "92469923" "dup" "0" "01943" "TRIP11_000016" "g.92469923dup" "" "" "" "TRIP11(NM_004239.4):c.4402dupA (p.I1468Nfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92003579dup" "" "pathogenic" "" "0000553382" "0" "50" "14" "92470616" "92470616" "subst" "4.0713E-6" "01804" "TRIP11_000017" "g.92470616A>G" "" "" "" "TRIP11(NM_004239.3):c.3704T>C (p.(Met1235Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92004272A>G" "" "VUS" "" "0000553383" "0" "30" "14" "92471200" "92471200" "subst" "0.000154911" "01804" "TRIP11_000018" "g.92471200T>C" "" "" "" "TRIP11(NM_004239.3):c.3120A>G (p.(Ile1040Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92004856T>C" "" "likely benign" "" "0000553385" "0" "30" "14" "92471669" "92471669" "subst" "0.00333407" "01804" "TRIP11_000020" "g.92471669T>C" "" "" "" "TRIP11(NM_004239.3):c.2651A>G (p.(Asp884Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92005325T>C" "" "likely benign" "" "0000553387" "0" "30" "14" "92472186" "92472186" "subst" "0.00780906" "01804" "TRIP11_000007" "g.92472186C>T" "" "" "" "TRIP11(NM_001321851.1):c.2131G>A (p.(Glu711Lys)), TRIP11(NM_004239.4):c.2134G>A (p.E712K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92005842C>T" "" "likely benign" "" "0000553388" "0" "10" "14" "92473994" "92473994" "subst" "0.0055114" "01804" "TRIP11_000022" "g.92473994T>G" "" "" "" "TRIP11(NM_001321851.1):c.1514A>C (p.(Glu505Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92007650T>G" "" "benign" "" "0000553389" "0" "50" "14" "92477364" "92477364" "subst" "0.00104835" "01804" "TRIP11_000023" "g.92477364A>G" "" "" "" "TRIP11(NM_001321851.1):c.1277T>C (p.(Leu426Ser)), TRIP11(NM_004239.4):c.1280T>C (p.L427S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92011020A>G" "" "VUS" "" "0000553390" "0" "30" "14" "92491771" "92491771" "subst" "0.00336078" "01804" "TRIP11_000024" "g.92491771A>T" "" "" "" "TRIP11(NM_004239.3):c.202-7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92025427A>T" "" "likely benign" "" "0000615134" "0" "30" "14" "92439123" "92439123" "subst" "0.000240312" "01804" "TRIP11_000025" "g.92439123A>G" "" "" "" "TRIP11(NM_004239.3):c.5657T>C (p.(Met1886Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91972779A>G" "" "likely benign" "" "0000615135" "0" "30" "14" "92470161" "92470161" "subst" "0.000345371" "01804" "TRIP11_000026" "g.92470161C>T" "" "" "" "TRIP11(NM_004239.3):c.4159G>A (p.(Glu1387Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92003817C>T" "" "likely benign" "" "0000615136" "0" "90" "14" "92480712" "92480715" "del" "0" "02327" "TRIP11_000027" "g.92480712_92480715del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92014368_92014371del" "" "pathogenic" "" "0000615137" "0" "30" "14" "92488106" "92488106" "subst" "0.000861417" "01943" "TRIP11_000028" "g.92488106C>A" "" "" "" "TRIP11(NM_004239.3):c.382G>T (p.(Ala128Ser)), TRIP11(NM_004239.4):c.382G>T (p.A128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92021762C>A" "" "likely benign" "" "0000649001" "1" "50" "14" "92441008" "92441008" "subst" "0.00112923" "03575" "TRIP11_000029" "g.92441008G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs141259390}" "Germline" "" "rs141259390" "0" "" "" "g.91974664G>A" "" "VUS" "" "0000649002" "1" "50" "14" "92465749" "92465749" "subst" "0.0142939" "03575" "TRIP11_000015" "g.92465749C>T" "37/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 37 heterozygous; {DB:CLININrs35007347}" "Germline" "" "rs35007347" "0" "" "" "g.91999405C>T" "" "VUS" "" "0000649003" "1" "50" "14" "92470181" "92470181" "subst" "0.00125177" "03575" "TRIP11_000030" "g.92470181G>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 18 heterozygous, no homozygous; {DB:CLININrs117748213}" "Germline" "" "rs117748213" "0" "" "" "g.92003837G>A" "" "VUS" "" "0000649004" "1" "30" "14" "92472186" "92472186" "subst" "0.00780906" "03575" "TRIP11_000007" "g.92472186C>T" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs143524436}" "Germline" "" "rs143524436" "0" "" "" "g.92005842C>T" "" "likely benign" "" "0000649005" "1" "10" "14" "92473994" "92473994" "subst" "0.0055114" "03575" "TRIP11_000022" "g.92473994T>G" "144/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "144 heterozygous; {DB:CLININrs2273186}" "Germline" "" "rs2273186" "0" "" "" "g.92007650T>G" "" "benign" "" "0000669269" "3" "50" "14" "92465749" "92465749" "subst" "0.0142939" "03575" "TRIP11_000015" "g.92465749C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs35007347}" "Germline" "" "rs35007347" "0" "" "" "g.91999405C>T" "" "VUS" "" "0000669270" "3" "10" "14" "92473994" "92473994" "subst" "0.0055114" "03575" "TRIP11_000022" "g.92473994T>G" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs2273186}" "Germline" "" "rs2273186" "0" "" "" "g.92007650T>G" "" "benign" "" "0000680080" "0" "50" "14" "92482096" "92482098" "del" "0" "01804" "TRIP11_000031" "g.92482096_92482098del" "" "" "" "TRIP11(NM_004239.3):c.769_771del (p.(Glu257del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691732" "0" "30" "14" "92461754" "92461754" "subst" "4.06527E-6" "01943" "TRIP11_000032" "g.92461754T>C" "" "" "" "TRIP11(NM_004239.4):c.4998A>G (p.V1666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691733" "0" "50" "14" "92471342" "92471342" "subst" "0" "01943" "TRIP11_000033" "g.92471342A>G" "" "" "" "TRIP11(NM_004239.4):c.2978T>C (p.I993T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691734" "0" "30" "14" "92471826" "92471826" "subst" "0.000113944" "01943" "TRIP11_000034" "g.92471826C>T" "" "" "" "TRIP11(NM_004239.4):c.2494G>A (p.D832N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691735" "0" "50" "14" "92477364" "92477364" "subst" "0.00104835" "01943" "TRIP11_000023" "g.92477364A>G" "" "" "" "TRIP11(NM_001321851.1):c.1277T>C (p.(Leu426Ser)), TRIP11(NM_004239.4):c.1280T>C (p.L427S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711451" "1" "70" "14" "92471328" "92471329" "del" "0" "00738" "TRIP11_000036" "g.92471328_92471329del" "" "" "" "[586C>T];[2993_2994del]" "compound heterozygote" "Germline" "-" "" "0" "" "" "g.92004984_92004985del" "" "pathogenic (recessive)" "ACMG" "0000711452" "1" "90" "14" "92480629" "92480629" "del" "0" "00738" "TRIP11_000038" "g.92480629del" "" "" "" "[1116del];[2993_2994del]" "compound heterozygote" "Germline" "" "" "0" "" "" "g.92014285del" "" "pathogenic (recessive)" "ACMG" "0000711453" "1" "90" "14" "92470899" "92470899" "dup" "0" "00738" "TRIP11_000037" "g.92470899dup" "" "" "" "[586C>T];[3426dup]" "compound heterozygotes" "Germline" "" "" "0" "" "" "g.92004555dup" "" "pathogenic (recessive)" "ACMG" "0000711512" "2" "90" "14" "92487902" "92487902" "subst" "4.06316E-6" "00738" "TRIP11_000035" "g.92487902G>A" "" "" "" "[586C>T];[2993_2994del]" "" "Germline" "" "" "0" "" "" "g.92021558G>A" "" "pathogenic (recessive)" "" "0000711513" "2" "90" "14" "92487902" "92487902" "subst" "4.06316E-6" "00738" "TRIP11_000035" "g.92487902G>A" "" "" "" "[586C>T];[3426dup]" "" "Germline" "" "" "0" "" "" "g.92021558G>A" "" "pathogenic (recessive)" "" "0000711514" "2" "90" "14" "92471328" "92471329" "del" "0" "00738" "TRIP11_000036" "g.92471328_92471329del" "" "" "" "[1116del];[2993_2994del]" "" "Germline" "" "" "0" "" "" "g.92004984_92004985del" "" "pathogenic (recessive)" "" "0000724919" "0" "30" "14" "92439129" "92439129" "subst" "0.00207295" "01804" "TRIP11_000039" "g.92439129T>C" "" "" "" "TRIP11(NM_004239.3):c.5651A>G (p.(His1884Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724920" "0" "30" "14" "92471778" "92471778" "subst" "8.13643E-6" "01804" "TRIP11_000042" "g.92471778T>C" "" "" "" "TRIP11(NM_004239.3):c.2542A>G (p.(Ile848Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724921" "0" "30" "14" "92472276" "92472276" "subst" "2.85598E-5" "01943" "TRIP11_000043" "g.92472276A>G" "" "" "" "TRIP11(NM_004239.4):c.2044T>C (p.L682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730086" "3" "90" "14" "92470114" "92470115" "del" "0" "00000" "TRIP11_000041" "g.92470114_92470115del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_004239.3:c.4205_4206del:p.(Gln1402Argfs*8)" "" "Germline" "" "" "0" "" "" "g.92003770_92003771del" "" "likely pathogenic (recessive)" "" "0000730087" "3" "90" "14" "92441553" "92441553" "subst" "0" "00000" "TRIP11_000040" "g.92441553C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_004239.3:c.5420G>T:p.(Gly1807Val)" "" "Germline" "" "" "0" "" "" "g.91975209C>A" "" "likely pathogenic (recessive)" "" "0000730088" "3" "90" "14" "92482100" "92482100" "subst" "0" "00000" "TRIP11_000044" "g.92482100G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_004239.3:c.763C>T:p.(Arg255*)" "" "Germline" "" "" "0" "" "" "g.92015756G>A" "" "likely pathogenic (recessive)" "" "0000806540" "0" "30" "14" "92439151" "92439151" "subst" "0.001935" "01804" "TRIP11_000045" "g.92439151G>T" "" "" "" "TRIP11(NM_004239.3):c.5629C>A (p.(Pro1877Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806541" "0" "30" "14" "92460227" "92460227" "subst" "0.0154575" "01804" "TRIP11_000046" "g.92460227C>T" "" "" "" "TRIP11(NM_001321851.1):c.5083G>A (p.(Glu1695Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806542" "0" "30" "14" "92471220" "92471220" "subst" "0.000656923" "01804" "TRIP11_000047" "g.92471220G>A" "" "" "" "TRIP11(NM_004239.3):c.3100C>T (p.(Leu1034Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806543" "0" "30" "14" "92472416" "92472416" "subst" "0.0152968" "01804" "TRIP11_000048" "g.92472416G>C" "" "" "" "TRIP11(NM_001321851.1):c.1901C>G (p.(Ser634Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853922" "0" "30" "14" "92488106" "92488106" "subst" "0.000861417" "01804" "TRIP11_000028" "g.92488106C>A" "" "" "" "TRIP11(NM_004239.3):c.382G>T (p.(Ala128Ser)), TRIP11(NM_004239.4):c.382G>T (p.A128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863713" "0" "30" "14" "92436219" "92436219" "subst" "0" "01804" "TRIP11_000049" "g.92436219G>C" "" "" "" "TRIP11(NM_004239.3):c.5738C>G (p.(Ser1913Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863714" "0" "50" "14" "92470940" "92470940" "subst" "0.000126282" "01804" "TRIP11_000050" "g.92470940G>A" "" "" "" "TRIP11(NM_001321851.1):c.3377C>T (p.(Ala1126Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863715" "0" "10" "14" "92473978" "92473978" "subst" "0.00562342" "01804" "TRIP11_000051" "g.92473978T>C" "" "" "" "TRIP11(NM_001321851.1):c.1524+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863716" "0" "50" "14" "92480795" "92480795" "subst" "0.0002515" "01804" "TRIP11_000052" "g.92480795T>A" "" "" "" "TRIP11(NM_001321851.1):c.947A>T (p.(Asp316Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891938" "0" "50" "14" "92470497" "92470497" "subst" "1.62588E-5" "01804" "TRIP11_000053" "g.92470497C>T" "" "" "" "TRIP11(NM_004239.3):c.3823G>A (p.(Glu1275Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891939" "0" "30" "14" "92472218" "92472218" "subst" "0.00166621" "01804" "TRIP11_000054" "g.92472218T>C" "" "" "" "TRIP11(NM_001321851.1):c.2099A>G (p.(Asn700Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891940" "0" "50" "14" "92472245" "92472245" "subst" "5.29493E-5" "01804" "TRIP11_000055" "g.92472245T>C" "" "" "" "TRIP11(NM_001321851.1):c.2072A>G (p.(Gln691Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891941" "0" "30" "14" "92472291" "92472291" "subst" "0" "01804" "TRIP11_000056" "g.92472291T>C" "" "" "" "TRIP11(NM_001321851.1):c.2026A>G (p.(Met676Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914250" "0" "50" "14" "92470023" "92470023" "subst" "0" "01804" "TRIP11_000057" "g.92470023T>C" "" "" "" "TRIP11(NM_004239.3):c.4297A>G (p.(Lys1433Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914251" "0" "50" "14" "92471159" "92471159" "subst" "5.28821E-5" "01804" "TRIP11_000058" "g.92471159A>C" "" "" "" "TRIP11(NM_004239.3):c.3161T>G (p.(Val1054Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930348" "0" "50" "14" "92441008" "92441008" "subst" "0.00112923" "01804" "TRIP11_000029" "g.92441008G>A" "" "" "" "TRIP11(NM_001321851.1):c.5534C>T (p.(Thr1845Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930349" "0" "30" "14" "92441562" "92441562" "subst" "8.12348E-6" "01804" "TRIP11_000059" "g.92441562C>T" "" "" "" "TRIP11(NM_001321851.1):c.5408G>A (p.(Arg1803Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930350" "0" "50" "14" "92471229" "92471229" "subst" "0.000130599" "01804" "TRIP11_000060" "g.92471229C>T" "" "" "" "TRIP11(NM_001321851.1):c.3088G>A (p.(Glu1030Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950301" "0" "50" "14" "92465697" "92465697" "subst" "4.07043E-6" "01804" "TRIP11_000061" "g.92465697A>C" "" "" "" "TRIP11(NM_001321851.1):c.4776T>G (p.(Asp1592Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950302" "0" "50" "14" "92505942" "92505942" "subst" "8.17194E-6" "01804" "TRIP11_000062" "g.92505942T>C" "" "" "" "TRIP11(NM_001321851.1):c.88A>G (p.(Ile30Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981065" "0" "50" "14" "92441577" "92441577" "subst" "4.06197E-6" "01804" "TRIP11_000063" "g.92441577C>G" "" "" "" "TRIP11(NM_004239.4):c.5396G>C (p.(Arg1799Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001200" "0" "50" "14" "92470258" "92470258" "subst" "6.10446E-5" "01804" "TRIP11_000064" "g.92470258T>G" "" "" "" "TRIP11(NM_004239.3):c.4062A>C (p.(Lys1354Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040154" "0" "30" "14" "92484017" "92484017" "subst" "9.88061E-5" "01804" "TRIP11_000065" "g.92484017T>G" "" "" "" "TRIP11(NM_004239.4):c.657+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040155" "0" "30" "14" "92499601" "92499601" "subst" "0" "01804" "TRIP11_000066" "g.92499601C>T" "" "" "" "TRIP11(NM_004239.4):c.140-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054933" "0" "50" "14" "92471564" "92471564" "subst" "0.000162583" "01804" "TRIP11_000067" "g.92471564A>G" "" "" "" "TRIP11(NM_004239.4):c.2756T>C (p.(Ile919Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054934" "0" "30" "14" "92472798" "92472798" "dup" "0" "01804" "TRIP11_000068" "g.92472798dup" "" "" "" "TRIP11(NM_004239.4):c.1528-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054935" "0" "50" "14" "92488007" "92488007" "subst" "1.62524E-5" "01804" "TRIP11_000069" "g.92488007C>G" "" "" "" "TRIP11(NM_004239.4):c.481G>C (p.(Asp161His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054936" "0" "50" "14" "92499569" "92499569" "subst" "0" "01804" "TRIP11_000070" "g.92499569T>A" "" "" "" "TRIP11(NM_004239.4):c.168A>T (p.(Glu56Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059616" "3" "50" "14" "92441944" "92441944" "subst" "0" "00006" "TRIP11_000071" "g.92441944A>G" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.91975600A>G" "SCV003929457.1" "VUS" "" "0001059732" "3" "50" "14" "92449594" "92449594" "subst" "0" "00006" "TRIP11_000072" "g.92449594T>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.91983250T>A" "" "VUS" "" "0001059733" "3" "50" "14" "92484969" "92484969" "subst" "0" "00006" "TRIP11_000073" "g.92484969T>C" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.92018625T>C" "" "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 TRIP11 ## Count = 78 "{{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}}" "0000222100" "00021872" "70" "1938" "0" "1941" "0" "c.1938_1941del" "r.(?)" "p.(Arg647Lysfs*7)" "11" "0000222101" "00021872" "70" "4508" "0" "4511" "0" "c.4508_4511del" "r.(?)" "p.(Met1503Argfs*11)" "11" "0000312054" "00021872" "10" "5479" "0" "5479" "0" "c.5479G>A" "r.(?)" "p.(Gly1827Ser)" "" "0000317110" "00021872" "30" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Glu712Lys)" "" "0000317112" "00021872" "30" "5298" "0" "5298" "0" "c.5298G>T" "r.(?)" "p.(Lys1766Asn)" "" "0000347171" "00021872" "50" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Leu434Pro)" "" "0000553374" "00021872" "30" "5544" "0" "5544" "0" "c.5544G>C" "r.(?)" "p.(Leu1848Phe)" "" "0000553375" "00021872" "30" "5372" "0" "5372" "0" "c.5372A>G" "r.(?)" "p.(His1791Arg)" "" "0000553376" "00021872" "10" "5255" "0" "5255" "0" "c.5255G>A" "r.(?)" "p.(Arg1752Lys)" "" "0000553378" "00021872" "30" "5137" "0" "5137" "0" "c.5137G>C" "r.(?)" "p.(Glu1713Gln)" "" "0000553380" "00021872" "30" "4727" "0" "4727" "0" "c.4727G>A" "r.(?)" "p.(Arg1576His)" "" "0000553381" "00021872" "90" "4402" "0" "4402" "0" "c.4402dup" "r.(?)" "p.(Ile1468AsnfsTer19)" "" "0000553382" "00021872" "50" "3704" "0" "3704" "0" "c.3704T>C" "r.(?)" "p.(Met1235Thr)" "" "0000553383" "00021872" "30" "3120" "0" "3120" "0" "c.3120A>G" "r.(?)" "p.(Ile1040Met)" "" "0000553385" "00021872" "30" "2651" "0" "2651" "0" "c.2651A>G" "r.(?)" "p.(Asp884Gly)" "" "0000553387" "00021872" "30" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Glu712Lys)" "" "0000553388" "00021872" "10" "1517" "0" "1517" "0" "c.1517A>C" "r.(?)" "p.(Glu506Ala)" "" "0000553389" "00021872" "50" "1280" "0" "1280" "0" "c.1280T>C" "r.(?)" "p.(Leu427Ser)" "" "0000553390" "00021872" "30" "202" "-7" "202" "-7" "c.202-7T>A" "r.(=)" "p.(=)" "" "0000615134" "00021872" "30" "5657" "0" "5657" "0" "c.5657T>C" "r.(?)" "p.(Met1886Thr)" "" "0000615135" "00021872" "30" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Glu1387Lys)" "" "0000615136" "00021872" "90" "1031" "0" "1034" "0" "c.1031_1034del" "r.(?)" "p.(Arg344LysfsTer2)" "" "0000615137" "00021872" "30" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Ala128Ser)" "" "0000649001" "00021872" "50" "5537" "0" "5537" "0" "c.5537C>T" "r.(?)" "p.(Thr1846Ile)" "" "0000649002" "00021872" "50" "4727" "0" "4727" "0" "c.4727G>A" "r.(?)" "p.(Arg1576His)" "" "0000649003" "00021872" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Thr1380Ile)" "" "0000649004" "00021872" "30" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Glu712Lys)" "" "0000649005" "00021872" "10" "1517" "0" "1517" "0" "c.1517A>C" "r.(?)" "p.(Glu506Ala)" "" "0000669269" "00021872" "50" "4727" "0" "4727" "0" "c.4727G>A" "r.(?)" "p.(Arg1576His)" "" "0000669270" "00021872" "10" "1517" "0" "1517" "0" "c.1517A>C" "r.(?)" "p.(Glu506Ala)" "" "0000680080" "00021872" "50" "769" "0" "771" "0" "c.769_771del" "r.(?)" "p.(Glu257del)" "" "0000691732" "00021872" "30" "4998" "0" "4998" "0" "c.4998A>G" "r.(?)" "p.(Val1666=)" "" "0000691733" "00021872" "50" "2978" "0" "2978" "0" "c.2978T>C" "r.(?)" "p.(Ile993Thr)" "" "0000691734" "00021872" "30" "2494" "0" "2494" "0" "c.2494G>A" "r.(?)" "p.(Asp832Asn)" "" "0000691735" "00021872" "50" "1280" "0" "1280" "0" "c.1280T>C" "r.(?)" "p.(Leu427Ser)" "" "0000711451" "00021872" "70" "2993" "0" "2994" "0" "c.2993_2994del" "r.2993_2994del" "p.Lys998Serfs*5" "11" "0000711452" "00021872" "90" "1116" "0" "1116" "0" "c.1116del" "r.1116del" "p.(Glu373Lysfs*29)" "7" "0000711453" "00021872" "90" "3426" "0" "3426" "0" "c.3426dup" "r.3426dup" "p.Leu1143Ilefs*4" "11" "0000711512" "00021872" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "" "0000711513" "00021872" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "" "0000711514" "00021872" "90" "2993" "0" "2994" "0" "c.2993_2994del" "r.(?)" "p.(Lys998Serfs*5)" "" "0000724919" "00021872" "30" "5651" "0" "5651" "0" "c.5651A>G" "r.(?)" "p.(His1884Arg)" "" "0000724920" "00021872" "30" "2542" "0" "2542" "0" "c.2542A>G" "r.(?)" "p.(Ile848Val)" "" "0000724921" "00021872" "30" "2044" "0" "2044" "0" "c.2044T>C" "r.(?)" "p.(Leu682=)" "" "0000730086" "00021872" "90" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Gln1402Argfs*8)" "" "0000730087" "00021872" "90" "5420" "0" "5420" "0" "c.5420G>T" "r.(?)" "p.(Gly1807Val)" "" "0000730088" "00021872" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" "" "0000806540" "00021872" "30" "5629" "0" "5629" "0" "c.5629C>A" "r.(?)" "p.(Pro1877Thr)" "" "0000806541" "00021872" "30" "5086" "0" "5086" "0" "c.5086G>A" "r.(?)" "p.(Glu1696Lys)" "" "0000806542" "00021872" "30" "3100" "0" "3100" "0" "c.3100C>T" "r.(?)" "p.(Leu1034Phe)" "" "0000806543" "00021872" "30" "1904" "0" "1904" "0" "c.1904C>G" "r.(?)" "p.(Ser635Cys)" "" "0000853922" "00021872" "30" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Ala128Ser)" "" "0000863713" "00021872" "30" "5738" "0" "5738" "0" "c.5738C>G" "r.(?)" "p.(Ser1913Cys)" "" "0000863714" "00021872" "50" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Ala1127Val)" "" "0000863715" "00021872" "10" "1527" "6" "1527" "6" "c.1527+6A>G" "r.(=)" "p.(=)" "" "0000863716" "00021872" "50" "950" "0" "950" "0" "c.950A>T" "r.(?)" "p.(Asp317Val)" "" "0000891938" "00021872" "50" "3823" "0" "3823" "0" "c.3823G>A" "r.(?)" "p.(Glu1275Lys)" "" "0000891939" "00021872" "30" "2102" "0" "2102" "0" "c.2102A>G" "r.(?)" "p.(Asn701Ser)" "" "0000891940" "00021872" "50" "2075" "0" "2075" "0" "c.2075A>G" "r.(?)" "p.(Gln692Arg)" "" "0000891941" "00021872" "30" "2029" "0" "2029" "0" "c.2029A>G" "r.(?)" "p.(Met677Val)" "" "0000914250" "00021872" "50" "4297" "0" "4297" "0" "c.4297A>G" "r.(?)" "p.(Lys1433Glu)" "" "0000914251" "00021872" "50" "3161" "0" "3161" "0" "c.3161T>G" "r.(?)" "p.(Val1054Gly)" "" "0000930348" "00021872" "50" "5537" "0" "5537" "0" "c.5537C>T" "r.(?)" "p.(Thr1846Ile)" "" "0000930349" "00021872" "30" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "" "0000930350" "00021872" "50" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Glu1031Lys)" "" "0000950301" "00021872" "50" "4779" "0" "4779" "0" "c.4779T>G" "r.(?)" "p.(Asp1593Glu)" "" "0000950302" "00021872" "50" "88" "0" "88" "0" "c.88A>G" "r.(?)" "p.(Ile30Val)" "" "0000981065" "00021872" "50" "5396" "0" "5396" "0" "c.5396G>C" "r.(?)" "p.(Arg1799Pro)" "" "0001001200" "00021872" "50" "4062" "0" "4062" "0" "c.4062A>C" "r.(?)" "p.(Lys1354Asn)" "" "0001040154" "00021872" "30" "657" "9" "657" "9" "c.657+9A>C" "r.(=)" "p.(=)" "" "0001040155" "00021872" "30" "140" "-4" "140" "-4" "c.140-4G>A" "r.spl?" "p.?" "" "0001054933" "00021872" "50" "2756" "0" "2756" "0" "c.2756T>C" "r.(?)" "p.(Ile919Thr)" "" "0001054934" "00021872" "30" "1528" "-4" "1528" "-4" "c.1528-4dup" "r.spl?" "p.?" "" "0001054935" "00021872" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "0001054936" "00021872" "50" "168" "0" "168" "0" "c.168A>T" "r.(?)" "p.(Glu56Asp)" "" "0001059616" "00021872" "50" "5343" "-314" "5343" "-314" "c.5343-314T>C" "r.spl?" "p.(=)" "" "0001059732" "00021872" "50" "5260" "5034" "5260" "5034" "c.5260+5034A>T" "r.spl?" "p.(=)" "" "0001059733" "00021872" "50" "589" "-875" "589" "-875" "c.589-875A>G" "r.spl?" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000132915" "0000222100" "0000132915" "0000222101" "0000292312" "0000649001" "0000292313" "0000649002" "0000292314" "0000649003" "0000292315" "0000649004" "0000292316" "0000649005" "0000305581" "0000669269" "0000305582" "0000669270" "0000327661" "0000711451" "0000327661" "0000711512" "0000327720" "0000711453" "0000327720" "0000711513" "0000327721" "0000711452" "0000327721" "0000711514" "0000332804" "0000730086" "0000332805" "0000730087" "0000332806" "0000730088" "0000471468" "0001059616" "0000471468" "0001059732" "0000471468" "0001059733"