### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIP12) # 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}}" "TRIP12" "thyroid hormone receptor interactor 12" "2" "q36.3" "unknown" "NG_053017.1" "NC_000002.11" "" "https://www.LOVD.nl/TRIP12" "" "1" "12306" "9320" "604506" "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/TRIP12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-22 12:04:45" "00006" "2026-02-06 11:55:49" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025350" "TRIP12" "transcript variant 1" "013" "NM_001284214.1" "" "NP_001271143.1" "" "" "" "-179" "9840" "6123" "230786725" "230628553" "00001" "2018-12-18 15:14:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "05531" "CLABARS;MRD49" "Clark-Baraitser syndrome (CLABARS, MRD-49)" "AD" "617752" "" "autosomal dominant" "" "00006" "2018-12-18 09:17:05" "00006" "2021-12-10 21:51:32" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRIP12" "05531" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00144614" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00174385" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00181213" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00208889" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "M" "" "Germany" "" "0" "" "" "" "27848077-Pat1" "00208890" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "M" "" "Germany" "" "0" "" "" "" "27848077-Pat2" "00208891" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "M" "" "Netherlands" "" "0" "" "" "" "27848077-Pat3" "00208892" "" "" "" "1" "" "00006" "{PMID:Lelieveld 2016:27479843}" "" "F" "" "Morocco" "" "0" "" "" "" "27479843-Pat?" "00208893" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "M" "" "Netherlands" "" "0" "" "" "" "27848077-Pat5" "00208894" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "M" "" "Iran" "" "0" "" "" "" "27848077-Pat6" "00208895" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "F" "" "Sweden" "" "0" "" "" "" "27848077-Pat7" "00208896" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:27848077}" "" "F" "" "United States" "" "0" "" "" "white" "27848077-Pat8" "00208897" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}, {PMID:Bramswig 2017:27848077}" "" "M" "" "United States" "" "0" "" "" "African American" "27848077-Pat9" "00208898" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}, {PMID:Bramswig 2017:27848077}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "27848077-Pat10" "00208899" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}, {PMID:Bramswig 2017:27848077}" "" "F" "" "United States" "" "0" "" "" "white" "27848077-Pat11" "00208900" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "M" "" "Mexico" "" "0" "" "" "" "28251352-Pat1" "00208901" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "M" "" "United States" "" "0" "" "" "" "28251352-Pat2" "00208902" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "M" "" "United States" "" "0" "" "" "" "28251352-Pat3" "00208903" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "F" "" "United States" "" "0" "" "" "white" "28251352-Pat4" "00208904" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "F" "" "United States" "" "0" "" "" "" "28251352-Pat5" "00208905" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "28251352-Pat6" "00208906" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "M" "" "United Arab Emirates" "" "0" "" "" "" "28251352-Pat7" "00208907" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "F" "" "United States" "" "0" "" "" "white" "28251352-Pat8" "00208908" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28251352}" "" "M" "" "United States" "" "0" "" "" "white" "28251352-Pat9" "00208982" "" "" "" "1" "" "00006" "{DOI:Brösse 2018, P694:10.1055/s-0038-1675998}" "" "F" "" "Syria" "" "0" "" "" "" "P694-case1" "00208983" "" "" "" "1" "" "00006" "contact me for details" "Journal: Brösse 2018, P694" "M" "no" "Germany" "" "0" "" "" "" "P694-case2" "00208984" "" "" "" "1" "" "00006" "{DOI:Brösse 2018, P694:10.1055/s-0038-1675998}" "" "F" "no" "Germany" "" "0" "" "" "" "P694-case3" "00269535" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "0" "" "" "" "" "00288210" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat20" "00301257" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "" "" "" "" "" "00374563" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3157" "00390483" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "187344" "00449875" "" "" "" "1" "" "04653" "" "" "F" "" "" "" "0" "" "" "" "" "00472219" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00144614" "00198" "00174385" "00198" "00181213" "00198" "00208889" "05533" "00208890" "05533" "00208891" "05533" "00208892" "05533" "00208893" "05533" "00208894" "05533" "00208895" "05533" "00208896" "05533" "00208897" "05533" "00208898" "05533" "00208899" "05533" "00208900" "05533" "00208901" "05533" "00208902" "05533" "00208903" "05533" "00208904" "05533" "00208905" "05533" "00208906" "05533" "00208907" "05533" "00208908" "05533" "00208982" "05533" "00208983" "05533" "00208984" "05533" "00269535" "00344" "00288210" "00198" "00301257" "00841" "00374563" "00198" "00390483" "05531" "00449875" "00212" "00472219" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 00212, 00344, 00841, 05531, 05533 ## Count = 33 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000117355" "00198" "00144614" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Hyperkinetic movements (HP:0002487); Urinary incontinence (HP:0000020); Mild short stature (HP:0003502)" "" "" "" "" "" "" "" "" "" "" "" "" "0000139223" "00198" "00174385" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Stereotypy (HP:0000733); Autistic behavior (HP:0000729); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "" "0000143382" "00198" "00181213" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Open mouth (HP:0000194); Full cheeks (HP:0000293)" "" "" "" "" "" "" "" "" "" "" "" "" "0000157498" "05533" "00208889" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157499" "05533" "00208890" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157500" "05533" "00208891" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157501" "05533" "00208892" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157502" "05533" "00208893" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157503" "05533" "00208894" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157504" "05533" "00208895" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157505" "05533" "00208896" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157506" "05533" "00208897" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157507" "05533" "00208898" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157508" "05533" "00208899" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157509" "05533" "00208900" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157510" "05533" "00208901" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157511" "05533" "00208902" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157512" "05533" "00208903" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157513" "05533" "00208904" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157514" "05533" "00208905" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157515" "05533" "00208906" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157516" "05533" "00208907" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157517" "05533" "00208908" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRD-49" "intellecutal disability" "" "0000157589" "05533" "00208982" "00006" "Unknown" "05y" "perinatal history unremarkable, transmitted hypotrophic newborn (weight 2,500 g, length 50 cm, head circumference never measured); inconspicuous infant period; global developmental disorder with expressive language development disorder, suspected mental retardation, autistic behavioral traits, axial hypotension; nonspecific dysmorphic stigmata with prominent forehead, broad nasal root, hypertelorism, epicanthus, deep-seated ears" "" "" "" "" "" "" "" "" "" "EAOH" "intellectual disability" "" "0000157590" "05533" "00208983" "00006" "Unknown" "07y" "pPerinatal history unremarkable, mature normotrophic newborn (weight 4,000 g, length 53 cm, head circumference 36 cm); inconspicuous infant period; primary developmental disorder with absence of expressive language, moderate mental disability, discrete muscular hypotension, early childhood autism; nonspecific dysmorphic signs with short nose and anteverted nares, small chin, and infraorbital swelling" "" "" "" "" "" "" "" "" "" "EAOH" "intellectual disability" "" "0000157591" "05533" "00208984" "00006" "Unknown" "08y" "perinatal history: unremarkable, mature normotrophic newborn (weight 3,800 g, length 54 cm, head circumference 35 cm); inconspicuous infant period; primary developmental disorder with emphasis on language deficits; hyperkinetic behavioral disorder, mild to moderate mental retardation and incontinence; nonspecific dysmorphic signs with broad nose and low standing columella, flat philtrum, narrow upper lip, prominent upper jaw region, and hypopigmentation on the abdomen; somatic growth in the range P3–10." "" "" "" "" "" "" "" "" "" "EAOH" "intellectual disability" "" "0000207366" "00344" "00269535" "03512" "Unknown" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000221947" "00198" "00288210" "00006" "Isolated (sporadic)" "7y" "decreased body weight, short stature, failure to thrive, postnatal growth retardation, intrauterine growth retardation, growth delay, widely spaced teeth, thick vermilion border, full cheeks, U-shaped upper lip vermilion, narrow forehead, depressed nasal bridge, deeply set eye, short philtrum, tachypnea, apnea, broad hallux, clinodactyly, broad thumb, meconium ileus, shawl scrotum, global developmental delay, autistic behavior" "" "" "" "" "" "" "" "" "" "" "" "" "0000228527" "00841" "00301257" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000269773" "00198" "00374563" "00006" "Familial, autosomal dominant" "" "attention deficit, intellectual disability, global development delay, broad facies, myopia, macrocephaly and macrostomia" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000284020" "05531" "00390483" "01164" "Isolated (sporadic)" "04y" "Hydrocele testis, Behavioral abnormality, Delayed speech and language development, Global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000339022" "00212" "00449875" "04653" "Isolated (sporadic)" "" "Schizophrenia, Autism," "" "" "" "" "" "" "" "" "" "Intellectual developmental disorder, autosomal dominant" "" "" "0000357028" "00138" "00472219" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000729, HP:0002474, HP:0000286" "" "" "" "" "" "" "" "" "" "CLABARS" "atypical autism, expressive language delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000145471" "00144614" "0" "01807" "01807" "2017-12-18 12:53:44" "" "" "SEQ" "DNA" "" "" "0000175276" "00174385" "1" "01807" "01807" "2018-08-08 12:33:56" "" "" "SEQ" "DNA" "" "" "0000182171" "00181213" "1" "01807" "01807" "2018-10-04 18:53:34" "" "" "SEQ" "DNA" "" "" "0000209944" "00208889" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209945" "00208890" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209946" "00208891" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209947" "00208892" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209948" "00208893" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209949" "00208894" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209950" "00208895" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209951" "00208896" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209952" "00208897" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209953" "00208898" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209954" "00208899" "1" "00006" "00006" "2018-12-19 20:14:35" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209955" "00208900" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "arrayCGH" "DNA" "peripheral blood lymphocytes" "" "0000209956" "00208901" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "arrayCGH" "DNA" "peripheral blood lymphocytes" "" "0000209957" "00208902" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "arrayCGH" "DNA" "peripheral blood lymphocytes" "" "0000209958" "00208903" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "arrayCGH" "DNA" "peripheral blood lymphocytes" "" "0000209959" "00208904" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "arrayCGH" "DNA" "peripheral blood lymphocytes" "" "0000209960" "00208905" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209961" "00208906" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209962" "00208907" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000209963" "00208908" "1" "00006" "00006" "2018-12-19 22:34:26" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood lymphocytes" "WES" "0000210037" "00208982" "1" "00006" "00006" "2018-12-20 16:57:47" "" "" "arrayCGH" "DNA" "" "" "0000210038" "00208983" "1" "00006" "00006" "2018-12-20 17:04:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000210039" "00208984" "1" "00006" "00006" "2018-12-20 17:17:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270691" "00269535" "1" "03512" "03512" "2019-11-29 11:54:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000289379" "00288210" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000302380" "00301257" "1" "03512" "03512" "2020-05-11 20:32:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000375757" "00374563" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000391724" "00390483" "1" "01164" "01164" "2021-11-10 16:29:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000451471" "00449875" "1" "04653" "04653" "2024-05-22 17:55:29" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000473889" "00472219" "1" "03544" "03544" "2026-01-17 08:28:52" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000209944" "TRIP12" "0000209945" "TRIP12" "0000209946" "TRIP12" "0000209947" "TRIP12" "0000209948" "TRIP12" "0000209949" "TRIP12" "0000209950" "TRIP12" "0000209951" "TRIP12" "0000209952" "TRIP12" "0000209953" "TRIP12" "0000209954" "TRIP12" "0000209955" "TRIP12" "0000209956" "TRIP12" "0000209957" "TRIP12" "0000209958" "TRIP12" "0000209959" "TRIP12" "0000209960" "TRIP12" "0000209961" "TRIP12" "0000209962" "TRIP12" "0000209963" "TRIP12" "0000210037" "TRIP12" "0000210038" "TRIP12" "0000210039" "TRIP12" "0000289379" "TRIP12" "0000375757" "TRIP12" "0000391724" "TRIP12" ## 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 = 132 "{{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}}" "0000237843" "0" "70" "2" "230652313" "230652313" "subst" "0" "01807" "TRIP12_000001" "g.230652313G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229787597G>A" "" "likely pathogenic" "" "0000313510" "0" "90" "2" "230670507" "230670507" "del" "0" "02329" "TRIP12_000007" "g.230670507del" "" "" "" "TRIP12(NM_001284214.2):c.2509delG (p.D837Tfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229805791del" "" "pathogenic" "" "0000313511" "0" "90" "2" "230668791" "230668791" "subst" "0" "02329" "TRIP12_000006" "g.230668791T>A" "" "" "" "TRIP12(NM_001284214.2):c.2722A>T (p.R908*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229804075T>A" "" "pathogenic" "" "0000313512" "0" "90" "2" "230657702" "230657702" "subst" "0" "02329" "TRIP12_000005" "g.230657702G>T" "" "" "" "TRIP12(NM_001284214.2):c.4047C>A (p.Y1349*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229792986G>T" "" "pathogenic" "" "0000328139" "0" "50" "2" "230636242" "230636242" "subst" "0" "01804" "TRIP12_000002" "g.230636242G>C" "" "" "" "TRIP12(NM_004238.1):c.5576C>G (p.(Pro1859Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229771526G>C" "" "VUS" "" "0000328140" "0" "50" "2" "230652364" "230652364" "del" "0" "01804" "TRIP12_000003" "g.230652364del" "" "" "" "TRIP12(NM_004238.1):c.4628del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229787648del" "" "VUS" "" "0000328143" "0" "30" "2" "230701593" "230701593" "subst" "0" "01804" "TRIP12_000010" "g.230701593C>T" "" "" "" "TRIP12(NM_001284214.1):c.1241G>A (p.(Arg414Gln)), TRIP12(NM_004238.3):c.1115G>A (p.R372Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229836877C>T" "" "likely benign" "" "0000342800" "0" "70" "2" "230701654" "230701654" "subst" "0" "02327" "TRIP12_000014" "g.230701654G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229836938G>A" "" "likely pathogenic" "" "0000342955" "0" "30" "2" "230693950" "230693950" "subst" "0" "02327" "TRIP12_000013" "g.230693950C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229829234C>T" "" "likely benign" "" "0000343942" "0" "50" "2" "230652322" "230652322" "subst" "0" "02327" "TRIP12_000011" "g.230652322C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.229787606C>G" "" "VUS" "" "0000395147" "0" "70" "2" "230693989" "230693989" "dup" "0" "01807" "TRIP12_000016" "g.230693989dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229829273dup" "" "likely pathogenic" "" "0000406048" "0" "70" "2" "230632293" "230632293" "subst" "0" "01807" "TRIP12_000017" "g.230632293G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.229767577G>A" "" "likely pathogenic" "" "0000441074" "0" "90" "2" "230663590" "230663590" "subst" "0" "00006" "TRIP12_000018" "g.230663590C>T" "1/311 cases ID" "{PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.3356+1G>A" "" "De novo" "" "" "0" "" "" "g.229798874C>T" "" "pathogenic (dominant)" "" "0000441075" "0" "90" "2" "230670443" "230670443" "dup" "0" "00006" "TRIP12_000019" "g.230670443dup" "1/311 cases ID" "{PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.2524+3dupA" "" "De novo" "" "" "0" "" "" "g.229805727dup" "" "pathogenic (dominant)" "" "0000441076" "0" "90" "2" "230701654" "230701654" "subst" "0" "00006" "TRIP12_000014" "g.230701654G>A" "1/2000 cases ID" "{PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.1054C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.229836938G>A" "" "pathogenic (dominant)" "" "0000441077" "0" "90" "2" "230723932" "230723933" "del" "0" "00006" "TRIP12_000015" "g.230723932_230723933del" "1/2000 cases ID" "{PMID:Lelieveld 2016:27479843}" "" "NM_001284215.1:c.460_461delAG" "" "De novo" "" "" "0" "" "" "g.229859216_229859217del" "" "pathogenic (dominant)" "" "0000441078" "0" "90" "2" "230652322" "230652322" "subst" "0" "00006" "TRIP12_000011" "g.230652322C>G" "1/2000 cases ID" "{PMID:Bramswig 2017:27848077}" "" "NM_001284215.1: c.4768G>C" "" "De novo" "" "" "0" "" "" "g.229787606C>G" "" "pathogenic (dominant)" "" "0000441079" "21" "90" "2" "230744782" "230744782" "subst" "0" "00006" "TRIP12_000020" "g.230744782G>A" "1/1500 cases" "{PMID:Bramswig 2017:27848077}" "" "" "" "Germline" "" "" "0" "" "" "g.229880066G>A" "" "pathogenic (dominant)" "" "0000441080" "0" "90" "2" "230672494" "230672494" "subst" "1.21837E-5" "00006" "TRIP12_000021" "g.230672494G>A" "" "{PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.2300C>T" "" "De novo" "" "" "0" "" "" "g.229807778G>A" "" "pathogenic (dominant)" "" "0000441081" "0" "90" "2" "230636299" "230636299" "subst" "0" "00006" "TRIP12_000022" "g.230636299G>A" "" "{PMID:O\'Roak 2012:23160955}, {PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.5618C>T" "" "Germline" "" "" "0" "" "" "g.229771583G>A" "" "pathogenic (dominant)" "" "0000441082" "0" "90" "2" "230650558" "230650558" "subst" "0" "00006" "TRIP12_000023" "g.230650558C>T" "" "{PMID:O\'Roak 2012:23160955}, {PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.4883G>A" "" "De novo" "" "" "0" "" "" "g.229785842C>T" "" "pathogenic (dominant)" "" "0000441083" "0" "90" "2" "230701696" "230701696" "subst" "0" "00006" "TRIP12_000024" "g.230701696G>A" "" "{PMID:O\'Roak 2012:23160955}, {PMID:Bramswig 2017:27848077}" "" "NM_001284215.1:c.1012C>T" "" "De novo" "" "" "0" "" "" "g.229836980G>A" "" "pathogenic (dominant)" "" "0000441084" "0" "90" "2" "0" "0" "" "0" "00006" "TRIP12_000025" "g.pter_230778893delins[NC_000023.10:42353928_gterinv]" "" "{PMID:Bramswig 2017:27848077}" "" "" "" "Germline" "" "" "0" "" "46,XX t(X;2)(p11.3;q36.3)" "" "" "pathogenic (dominant)" "" "0000441087" "0" "90" "2" "0" "0" "" "0" "00006" "TRIP12_000026" "g.[NC_000023.10:42353928_qter]delinspter_230778893inv" "" "{PMID:Bramswig 2017:27848077}" "" "" "" "DUPLICATE record" "" "" "0" "" "46,XX t(X;2)(p11.3;q36.3)" "" "" "pathogenic (dominant)" "" "0000441088" "0" "90" "2" "230659894" "230659894" "subst" "0" "00006" "TRIP12_000027" "g.230659894C>T" "" "{PMID:Zhang 2017:28251352}" "" "NM_004238.2:c.3743+1G>A" "" "De novo" "" "" "0" "" "" "g.229795178C>T" "" "pathogenic (dominant)" "" "0000441089" "0" "90" "2" "230672494" "230672494" "subst" "1.21837E-5" "00006" "TRIP12_000021" "g.230672494G>A" "" "{PMID:Zhang 2017:28251352}" "" "NM_004238.2:c.2282C>T" "" "De novo" "" "" "0" "" "" "g.229807778G>A" "" "pathogenic (dominant)" "" "0000441090" "0" "90" "2" "230666971" "230666971" "dup" "0" "00006" "TRIP12_000028" "g.230666971dup" "" "{PMID:Zhang 2017:28251352}" "" "NM_004238.2:c.2979dupA" "" "De novo" "" "" "0" "" "" "g.229802255dup" "" "pathogenic (dominant)" "" "0000441091" "0" "90" "2" "230661451" "230661452" "del" "0" "00006" "TRIP12_000029" "g.230661451_230661452del" "" "{PMID:Zhang 2017:28251352}" "" "NM_004238.2:c.3446_3447delCA" "" "De novo" "" "" "0" "" "" "g.229796735_229796736del" "" "pathogenic (dominant)" "" "0000441092" "0" "90" "2" "229152599" "230801061" "del" "0" "00006" "TRIP12_000030" "g.(229076749_229152599)_(230801061_230811273)del" "" "{PMID:Zhang 2017:28251352}" "" "" "deletion affecting FBXO36 (5\'end), PID1, TRIP12 and DNER" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000441093" "0" "90" "2" "230513445" "231457431" "del" "0" "00006" "TRIP12_000030" "g.(230489478_230513445)_(231457431_231508839)del" "" "{PMID:Zhang 2017:28251352}" "" "" "deletion affecting SP140L, SP140, SLC16A14, FBXO36, SP110, TRIP12, SP100, DNER (5\'end)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000441094" "0" "90" "2" "230698794" "230781114" "del" "0" "00006" "TRIP12_000031" "g.(230679862_230698794)_(230781114_230801002)del" "" "{PMID:Zhang 2017:28251352}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000441095" "0" "90" "2" "230632049" "230660565" "del" "0" "00006" "TRIP12_000032" "g.(230631958_230632049)_(230660565_230661210)del" "" "{PMID:Zhang 2017:28251352}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000441096" "0" "90" "2" "230636077" "230654539" "del" "0" "00006" "TRIP12_000033" "g.(230634390_230636077)_(230654539_230655748)del" "" "{PMID:Zhang 2017:28251352}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000441188" "0" "90" "2" "230632269" "230744796" "del" "0" "00006" "TRIP12_000030" "g.(?_230632269)_(230744796_?)del" "" "{DOI:Brösse 2018, P694:10.1055/s-0038-1675998}" "" "" "1.6-Mb deletion 2q36.3-q37.1 including eight other OMIM-listed genes" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_229767553)_(229880080_?)del" "" "pathogenic (dominant)" "" "0000441189" "0" "90" "2" "230634035" "230634035" "subst" "0" "00006" "TRIP12_000034" "g.230634035G>A" "" "{DOI:Brösse 2018, P694:10.1055/s-0038-1675998}" "" "5689C>T (Gln1897*)" "" "De novo" "" "" "0" "" "" "g.229769319G>A" "" "pathogenic (dominant)" "" "0000441190" "0" "90" "2" "230652313" "230652313" "subst" "0" "00006" "TRIP12_000001" "g.230652313G>A" "" "{DOI:Brösse 2018, P694:10.1055/s-0038-1675998}" "" "4822C>T (Arg1608*)" "" "De novo" "" "" "0" "" "" "g.229787597G>A" "" "pathogenic (dominant)" "" "0000515003" "0" "70" "2" "230632449" "230632449" "subst" "0" "02327" "TRIP12_000035" "g.230632449G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229767733G>T" "" "likely pathogenic" "" "0000515004" "0" "50" "2" "230652215" "230652215" "subst" "0" "01804" "TRIP12_000036" "g.230652215A>G" "" "" "" "TRIP12(NM_004238.1):c.4770+6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229787499A>G" "" "VUS" "" "0000515005" "0" "30" "2" "230654396" "230654396" "subst" "0.000463324" "02325" "TRIP12_000037" "g.230654396C>T" "" "" "" "TRIP12(NM_001284214.2):c.4545G>A (p.P1515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229789680C>T" "" "likely benign" "" "0000515006" "0" "50" "2" "230655911" "230655911" "subst" "0" "02327" "TRIP12_000038" "g.230655911C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229791195C>A" "" "VUS" "" "0000515007" "0" "90" "2" "230656688" "230656691" "dup" "0" "02325" "TRIP12_000039" "g.230656688_230656691dup" "" "" "" "TRIP12(NM_001284214.2):c.4228_4231dupGCAG (p.V1411Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229791972_229791975dup" "" "pathogenic" "" "0000515009" "0" "50" "2" "230657820" "230657820" "subst" "4.06524E-6" "02329" "TRIP12_000041" "g.230657820T>C" "" "" "" "TRIP12(NM_001284214.1):c.3929A>G (p.N1310S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229793104T>C" "" "VUS" "" "0000515010" "0" "90" "2" "230664098" "230664098" "subst" "0" "02327" "TRIP12_000042" "g.230664098G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229799382G>A" "" "pathogenic" "" "0000515011" "0" "50" "2" "230668887" "230668887" "subst" "0" "01804" "TRIP12_000043" "g.230668887G>C" "" "" "" "TRIP12(NM_004238.1):c.2482C>G (p.(Pro828Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229804171G>C" "" "VUS" "" "0000515012" "0" "90" "2" "230670506" "230670510" "dup" "0" "02325" "TRIP12_000044" "g.230670506_230670510dup" "" "" "" "TRIP12(NM_001284214.2):c.2505_2509dupTGAGG (p.D837Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229805790_229805794dup" "" "pathogenic" "" "0000515013" "0" "70" "2" "230675752" "230675752" "subst" "0" "02329" "TRIP12_000045" "g.230675752G>A" "" "" "" "TRIP12(NM_001284214.2):c.2065C>T (p.Q689*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229811036G>A" "" "likely pathogenic" "" "0000515014" "0" "30" "2" "230678650" "230678650" "subst" "0.000760027" "01804" "TRIP12_000046" "g.230678650G>A" "" "" "" "TRIP12(NM_004238.1):c.1778C>T (p.(Thr593Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229813934G>A" "" "likely benign" "" "0000515015" "0" "30" "2" "230723595" "230723595" "subst" "0.000796068" "01804" "TRIP12_000047" "g.230723595C>T" "" "" "" "TRIP12(NM_004238.1):c.794G>A (p.(Arg265His)), TRIP12(NM_004238.3):c.794G>A (p.R265H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229858879C>T" "" "likely benign" "" "0000515016" "0" "50" "2" "230723706" "230723706" "subst" "0" "01943" "TRIP12_000048" "g.230723706T>C" "" "" "" "TRIP12(NM_001284214.1):c.809A>G (p.Q270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229858990T>C" "" "VUS" "" "0000515017" "0" "50" "2" "230723772" "230723772" "subst" "0" "02327" "TRIP12_000049" "g.230723772G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229859056G>C" "" "VUS" "" "0000515018" "0" "50" "2" "230724018" "230724018" "subst" "4.06233E-6" "02327" "TRIP12_000050" "g.230724018G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229859302G>A" "" "VUS" "" "0000604478" "0" "50" "2" "230724183" "230724183" "subst" "0" "03512" "TRIP12_000051" "g.230724183G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "mother wild type, father unknown" "Germline/De novo (untested)" "" "" "0" "" "" "g.229859467G>A" "" "VUS" "" "0000607804" "0" "50" "2" "230636242" "230636242" "subst" "4.06342E-6" "02325" "TRIP12_000052" "g.230636242G>A" "" "" "" "TRIP12(NM_001348322.1):c.5801C>T (p.P1934L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229771526G>A" "" "VUS" "" "0000607805" "0" "90" "2" "230643603" "230643607" "del" "0" "02327" "TRIP12_000053" "g.230643603_230643607del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229778887_229778891del" "" "pathogenic" "" "0000607806" "0" "50" "2" "230656754" "230656756" "dup" "0" "01804" "TRIP12_000054" "g.230656754_230656756dup" "" "" "" "TRIP12(NM_004238.1):c.4018_4019insATG (p.(Asn1339_Val1340insAsp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229792038_229792040dup" "" "VUS" "" "0000607807" "0" "50" "2" "230701593" "230701593" "subst" "0" "02325" "TRIP12_000010" "g.230701593C>T" "" "" "" "TRIP12(NM_001284214.1):c.1241G>A (p.(Arg414Gln)), TRIP12(NM_004238.3):c.1115G>A (p.R372Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229836877C>T" "" "VUS" "" "0000620985" "0" "30" "2" "230724200" "230724200" "subst" "4.06822E-6" "01943" "TRIP12_000057" "g.230724200C>T" "" "" "" "TRIP12(NM_001348322.1):c.315G>A (p.V105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229859484C>T" "" "likely benign" "" "0000645308" "0" "90" "2" "230695548" "230695548" "del" "0" "00006" "TRIP12_000058" "g.230695548del" "" "{PMID:Lee 2019:31607746}" "" "" "" "De novo" "" "" "0" "" "" "g.229830832del" "{CV:000746578.1}" "pathogenic (dominant)" "" "0000654586" "0" "30" "2" "230673034" "230673034" "subst" "0" "02327" "TRIP12_000059" "g.230673034C>T" "" "" "" "TRIP12(NM_001284214.1):c.2273G>A (p.(Cys758Tyr)), TRIP12(NM_001348325.2):c.2273G>A (p.C758Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.229808318C>T" "" "likely benign" "" "0000665613" "0" "50" "2" "230724057" "230724057" "subst" "1.21821E-5" "03512" "TRIP12_000060" "g.230724057G>A" "" "{PMID:Minardi 2020:32725632}" "" "NM_004238.2:c.332C>T" "mother wt" "Germline" "" "" "0" "" "" "g.229859341G>A" "" "VUS" "" "0000688682" "0" "70" "2" "230668284" "230668284" "subst" "0" "02327" "TRIP12_000061" "g.230668284T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688683" "0" "70" "2" "230693992" "230693995" "del" "0" "01943" "TRIP12_000062" "g.230693992_230693995del" "" "" "" "TRIP12(NM_001348322.1):c.1365_1368delGGCA (p.A456Gfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688684" "0" "50" "2" "230723686" "230723686" "subst" "8.1248E-6" "01943" "TRIP12_000063" "g.230723686G>A" "" "" "" "TRIP12(NM_001348322.1):c.829C>T (p.R277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718600" "0" "70" "2" "230636234" "230636234" "subst" "0" "02329" "TRIP12_000064" "g.230636234C>T" "" "" "" "TRIP12(NM_001348325.2):c.5808+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718601" "0" "50" "2" "230656879" "230656879" "subst" "0" "02327" "TRIP12_000065" "g.230656879T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718602" "0" "30" "2" "230657693" "230657693" "subst" "9.439E-5" "01943" "TRIP12_000066" "g.230657693A>G" "" "" "" "TRIP12(NM_001348322.1):c.4137T>C (p.V1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718603" "0" "50" "2" "230657721" "230657721" "subst" "0" "01804" "TRIP12_000067" "g.230657721A>G" "" "" "" "TRIP12(NM_001284214.1):c.4028T>C (p.(Val1295Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718604" "0" "50" "2" "230673034" "230673034" "subst" "0" "02329" "TRIP12_000059" "g.230673034C>T" "" "" "" "TRIP12(NM_001284214.1):c.2273G>A (p.(Cys758Tyr)), TRIP12(NM_001348325.2):c.2273G>A (p.C758Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718605" "0" "70" "2" "230675713" "230675713" "subst" "0" "02327" "TRIP12_000068" "g.230675713G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718606" "0" "50" "2" "230723835" "230723835" "subst" "0" "02329" "TRIP12_000056" "g.230723835G>A" "" "" "" "TRIP12(NM_001348325.2):c.680C>T (p.S227L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787108" "0" "70" "2" "1" "230656869" "" "0" "00006" "TRIP12_000069" "g.(?_230656869?_230744795_?)dup" "" "{PMID:Ganapathy 2019:31069529}" "" "chr2:230656869?_230744795+?dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000800465" "0" "50" "2" "230701657" "230701657" "subst" "1.30777E-5" "01943" "TRIP12_000070" "g.230701657G>A" "" "" "" "TRIP12(NM_001348322.1):c.1177C>T (p.R393C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800466" "0" "50" "2" "230701683" "230701683" "subst" "0" "02327" "TRIP12_000071" "g.230701683A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821650" "0" "70" "2" "230632366" "230632379" "dup" "0" "01164" "TRIP12_000072" "g.230632366_230632379dup" "" "" "" "" "ACMG: PVS1_STR, PS2_MOD, PM2_SUP; confirmed de novo in index after trio-exome analysis" "De novo" "?" "" "0" "" "" "g.229767650_229767663dup" "" "likely pathogenic (dominant)" "ACMG" "0000858395" "0" "30" "2" "230634044" "230634044" "subst" "2.03257E-5" "01943" "TRIP12_000073" "g.230634044G>A" "" "" "" "TRIP12(NM_001348322.1):c.5809-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858396" "0" "70" "2" "230638871" "230638871" "dup" "0" "01804" "TRIP12_000074" "g.230638871dup" "" "" "" "TRIP12(NM_001284214.1):c.5555dupT (p.(Lys1805Glufs*28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858397" "0" "30" "2" "230668415" "230668415" "subst" "0" "01943" "TRIP12_000075" "g.230668415G>C" "" "" "" "TRIP12(NM_001348322.1):c.2880-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885001" "0" "70" "2" "230650475" "230650475" "subst" "0" "02327" "TRIP12_000076" "g.230650475C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885002" "0" "90" "2" "230661389" "230661392" "del" "0" "02329" "TRIP12_000077" "g.230661389_230661392del" "" "" "" "TRIP12(NM_001348325.2):c.3734_3737delATTT (p.Y1245*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885003" "0" "30" "2" "230663741" "230663741" "subst" "0" "02327" "TRIP12_000078" "g.230663741G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885004" "0" "90" "2" "230664071" "230664071" "subst" "0" "02329" "TRIP12_000079" "g.230664071G>A" "" "" "" "TRIP12(NM_001348325.2):c.3235C>T (p.R1079*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885006" "0" "50" "2" "230679004" "230679004" "subst" "0" "02325" "TRIP12_000081" "g.230679004G>A" "" "" "" "TRIP12(NM_004238.3):c.1625C>T (p.A542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885007" "0" "50" "2" "230693941" "230693941" "subst" "0" "02325" "TRIP12_000082" "g.230693941T>C" "" "" "" "TRIP12(NM_004238.3):c.1274A>G (p.Q425R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911629" "0" "50" "2" "230663700" "230663700" "subst" "0" "02325" "TRIP12_000083" "g.230663700A>G" "" "" "" "TRIP12(NM_004238.3):c.3148T>C (p.W1050R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911630" "0" "70" "2" "230668911" "230668911" "subst" "0" "02327" "TRIP12_000084" "g.230668911G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911631" "0" "70" "2" "230670557" "230670570" "del" "0" "02327" "TRIP12_000085" "g.230670557_230670570del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911632" "0" "30" "2" "230723595" "230723595" "subst" "0.000796068" "02325" "TRIP12_000047" "g.230723595C>T" "" "" "" "TRIP12(NM_004238.1):c.794G>A (p.(Arg265His)), TRIP12(NM_004238.3):c.794G>A (p.R265H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923651" "0" "50" "2" "230642153" "230642153" "subst" "4.06382E-6" "02325" "TRIP12_000086" "g.230642153G>A" "" "" "" "TRIP12(NM_004238.3):c.5182C>T (p.R1728W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928552" "0" "50" "2" "230650570" "230650570" "subst" "0" "02327" "TRIP12_000087" "g.230650570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928553" "0" "30" "2" "230678950" "230678950" "subst" "0.000272271" "02325" "TRIP12_000088" "g.230678950G>A" "" "" "" "TRIP12(NM_004238.3):c.1679C>T (p.A560V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928554" "0" "50" "2" "230724063" "230724063" "subst" "0" "02325" "TRIP12_000089" "g.230724063C>A" "" "" "" "TRIP12(NM_004238.3):c.326G>T (p.S109I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975074" "0" "50" "2" "230662498" "230662498" "subst" "1.21981E-5" "01804" "TRIP12_000090" "g.230662498G>A" "" "" "" "TRIP12(NM_001348323.3):c.3532C>T (p.(Arg1178Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975075" "0" "50" "2" "230668325" "230668325" "subst" "0" "02325" "TRIP12_000091" "g.230668325T>C" "" "" "" "TRIP12(NM_004238.3):c.2735A>G (p.K912R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975076" "0" "50" "2" "230744715" "230744715" "subst" "0" "01804" "TRIP12_000092" "g.230744715G>C" "" "" "" "TRIP12(NM_001348323.3):c.81C>G (p.(Asp27Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985375" "0" "70" "2" "230652312" "230652312" "subst" "0" "04653" "TRIP12_000093" "g.230652312C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.229787596C>T" "" "likely pathogenic (dominant)" "ACMG" "0000992628" "0" "50" "2" "230633401" "230633401" "subst" "4.20975E-6" "01804" "TRIP12_000094" "g.230633401T>C" "" "" "" "TRIP12(NM_001284214.1):c.5857A>G (p.(Ser1953Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992629" "0" "70" "2" "230638808" "230638808" "subst" "0" "01804" "TRIP12_000095" "g.230638808C>T" "" "" "" "TRIP12(NM_001284214.1):c.5613+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992630" "0" "30" "2" "230654406" "230654406" "subst" "0" "01804" "TRIP12_000096" "g.230654406A>C" "" "" "" "TRIP12(NM_001284214.1):c.4535T>G (p.(Phe1512Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992631" "0" "30" "2" "230662432" "230662432" "subst" "1.22227E-5" "01804" "TRIP12_000097" "g.230662432C>T" "" "" "" "TRIP12(NM_001284214.1):c.3517G>A (p.(Ala1173Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992632" "0" "50" "2" "230668315" "230668315" "subst" "4.07528E-6" "01804" "TRIP12_000098" "g.230668315A>C" "" "" "" "TRIP12(NM_001284214.1):c.2889T>G (p.(Asp963Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992633" "0" "30" "2" "230668773" "230668773" "subst" "4.06303E-6" "01804" "TRIP12_000099" "g.230668773T>C" "" "" "" "TRIP12(NM_001284214.1):c.2740A>G (p.(Ile914Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992634" "0" "50" "2" "230673034" "230673034" "subst" "0" "01804" "TRIP12_000059" "g.230673034C>T" "" "" "" "TRIP12(NM_001284214.1):c.2273G>A (p.(Cys758Tyr)), TRIP12(NM_001348325.2):c.2273G>A (p.C758Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992635" "0" "30" "2" "230673073" "230673073" "subst" "4.11113E-5" "01804" "TRIP12_000100" "g.230673073G>A" "" "" "" "TRIP12(NM_001284214.1):c.2234C>T (p.(Thr745Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992636" "0" "30" "2" "230675724" "230675724" "subst" "4.07133E-6" "01804" "TRIP12_000101" "g.230675724G>A" "" "" "" "TRIP12(NM_001284214.1):c.2093C>T (p.(Thr698Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992637" "0" "30" "2" "230683159" "230683159" "subst" "0" "01804" "TRIP12_000102" "g.230683159A>G" "" "" "" "TRIP12(NM_001284214.1):c.1520T>C (p.(Ile507Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992638" "0" "70" "2" "230723905" "230723905" "del" "0" "01804" "TRIP12_000103" "g.230723905del" "" "" "" "TRIP12(NM_001284214.1):c.612delG (p.(Ser205fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992639" "0" "30" "2" "230725226" "230725226" "subst" "0" "01804" "TRIP12_000104" "g.230725226T>G" "" "" "" "TRIP12(NM_001284214.1):c.120A>C (p.(Lys40Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992640" "0" "30" "2" "230744708" "230744708" "subst" "4.87318E-5" "01804" "TRIP12_000105" "g.230744708T>C" "" "" "" "TRIP12(NM_001284214.1):c.88A>G (p.(Ile30Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992641" "0" "30" "2" "230744788" "230744788" "subst" "2.0307E-5" "01804" "TRIP12_000106" "g.230744788T>C" "" "" "" "TRIP12(NM_001284214.1):c.8A>G (p.(Asn3Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024554" "0" "30" "2" "230634045" "230634045" "dup" "0" "02325" "TRIP12_000107" "g.230634045dup" "" "" "" "TRIP12(NM_004238.3):c.5584-4dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033079" "0" "30" "2" "230633439" "230633439" "subst" "8.19891E-5" "02325" "TRIP12_000108" "g.230633439T>C" "" "" "" "TRIP12(NM_004238.3):c.5679-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033080" "0" "50" "2" "230642195" "230642195" "subst" "0" "01804" "TRIP12_000109" "g.230642195C>T" "" "" "" "TRIP12(NM_001348323.3):c.5365G>A (p.(Val1789Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033081" "0" "30" "2" "230662500" "230662500" "subst" "0.000130128" "01804" "TRIP12_000110" "g.230662500T>C" "" "" "" "TRIP12(NM_001348323.3):c.3530A>G (p.(Glu1177Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033082" "0" "30" "2" "230669779" "230669779" "subst" "0" "01804" "TRIP12_000111" "g.230669779G>A" "" "" "" "TRIP12(NM_001348323.3):c.2650+667C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033083" "0" "30" "2" "230676129" "230676130" "del" "0" "01804" "TRIP12_000112" "g.230676129_230676130del" "" "" "" "TRIP12(NM_001348323.3):c.1987-210_1987-209del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033084" "0" "30" "2" "230683236" "230683237" "dup" "0" "01804" "TRIP12_000113" "g.230683236_230683237dup" "" "" "" "TRIP12(NM_001348323.3):c.1451-6_1451-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033085" "0" "50" "2" "230701525" "230701525" "subst" "9.63865E-6" "01804" "TRIP12_000114" "g.230701525G>C" "" "" "" "TRIP12(NM_001348334.1):c.1222C>G (p.(Leu408Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033086" "0" "30" "2" "230701542" "230701542" "subst" "9.39267E-6" "01804" "TRIP12_000115" "g.230701542A>C" "" "" "" "TRIP12(NM_001348334.1):c.1205T>G (p.(Phe402Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033087" "0" "30" "2" "230727762" "230727762" "subst" "0" "01804" "TRIP12_000116" "g.230727762G>A" "" "" "" "TRIP12(NM_001348323.3):c.99-2515C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033088" "0" "30" "2" "230763427" "230763427" "subst" "0" "01804" "TRIP12_000117" "g.230763427A>G" "" "" "" "TRIP12(NM_001348323.3):c.-49-18583T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051114" "0" "30" "2" "230638809" "230638809" "subst" "3.69285E-5" "01804" "TRIP12_000118" "g.230638809A>G" "" "" "" "TRIP12(NM_001348323.3):c.5694+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051115" "0" "50" "2" "230659731" "230659731" "subst" "0" "01804" "TRIP12_000119" "g.230659731A>G" "" "" "" "TRIP12(NM_001348323.3):c.3968+164T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051116" "0" "50" "2" "230659743" "230659743" "subst" "0" "01804" "TRIP12_000120" "g.230659743A>C" "" "" "" "TRIP12(NM_001348323.3):c.3968+152T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051117" "0" "50" "2" "230705543" "230705543" "subst" "0" "01804" "TRIP12_000121" "g.230705543A>C" "" "" "" "TRIP12(NM_001348323.3):c.1128T>G (p.(Ser376Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051118" "0" "30" "2" "230725194" "230725194" "subst" "0" "01804" "TRIP12_000122" "g.230725194T>C" "" "" "" "TRIP12(NM_001348323.3):c.152A>G (p.(Lys51Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062840" "0" "90" "2" "230724122" "230724122" "dup" "0" "03544" "TRIP12_000123" "g.230724122dup" "" "" "" "" "" "Germline" "-" "rs2060119917" "0" "" "" "g.229859406dup" "{CV:997950}" "pathogenic" "ACMG" "0001063804" "0" "50" "2" "230642126" "230642126" "subst" "0" "02325" "TRIP12_000124" "g.230642126C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063805" "0" "50" "2" "230659731" "230659743" "delins" "0" "01804" "TRIP12_000125" "g.230659731_230659743delinsGGAAAGCATTTGC" "" "" "" "TRIP12(NM_001348323.3):c.3968+152_3968+164delinsGCAAATGCTTTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063806" "0" "30" "2" "230662396" "230662396" "subst" "1.2251E-5" "01804" "TRIP12_000126" "g.230662396G>T" "" "" "" "TRIP12(NM_001348323.3):c.3624+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001063807" "0" "90" "2" "230672565" "230672565" "subst" "0" "02325" "TRIP12_000127" "g.230672565A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001063808" "0" "50" "2" "230675677" "230675677" "subst" "0" "02327" "TRIP12_000128" "g.230675677C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063809" "0" "30" "2" "230724301" "230724301" "subst" "0.000402318" "02325" "TRIP12_000129" "g.230724301A>G" "" "" "" "" "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 TRIP12 ## Count = 132 "{{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}}" "0000237843" "00025350" "70" "4822" "0" "4822" "0" "c.4822C>T" "r.(?)" "p.(Arg1608*)" "" "0000313510" "00025350" "90" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Asp837ThrfsTer15)" "" "0000313511" "00025350" "90" "2722" "0" "2722" "0" "c.2722A>T" "r.(?)" "p.(Arg908Ter)" "" "0000313512" "00025350" "90" "4047" "0" "4047" "0" "c.4047C>A" "r.(?)" "p.(Tyr1349Ter)" "" "0000328139" "00025350" "50" "5720" "0" "5720" "0" "c.5720C>G" "r.(?)" "p.(Pro1907Arg)" "" "0000328140" "00025350" "50" "4772" "0" "4772" "0" "c.4772del" "r.(?)" "p.(Pro1591LeufsTer11)" "" "0000328143" "00025350" "30" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414Gln)" "" "0000342800" "00025350" "70" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Ter)" "" "0000342955" "00025350" "30" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470Gln)" "" "0000343942" "00025350" "50" "4813" "0" "4813" "0" "c.4813G>C" "r.(?)" "p.(Asp1605His)" "" "0000395147" "00025350" "70" "1373" "0" "1373" "0" "c.1373dup" "r.(?)" "p.(Leu459Serfs*19)" "" "0000406048" "00025350" "70" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Gln2034*)" "" "0000441074" "00025350" "90" "3401" "1" "3401" "1" "c.3401+1G>A" "r.(3227_3401del)" "p.(Ala1076Glufs*16)" "24i" "0000441075" "00025350" "90" "2569" "4" "2569" "4" "c.2569+4dup" "r.(2497_2569del)" "p.(Gln833Valfs*16)" "18i" "0000441076" "00025350" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(1180c>u)" "p.(Arg394*)" "" "0000441077" "00025350" "90" "586" "0" "587" "0" "c.586_587del" "r.(586_587del)" "p.(Ser196Phefs*10)" "" "0000441078" "00025350" "90" "4813" "0" "4813" "0" "c.4813G>C" "r.4813g>c" "p.(Asp1605His)" "" "0000441079" "00025350" "90" "14" "0" "14" "0" "c.14C>T" "r.(14c>u)" "p.(Pro5Leu)" "" "0000441080" "00025350" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(2426c>u)" "p.(Ala809Val)" "" "0000441081" "00025350" "90" "5663" "0" "5663" "0" "c.5663C>T" "r.(5663c>u)" "p.(Ser1888Leu)" "" "0000441082" "00025350" "90" "4928" "0" "4928" "0" "c.4928G>A" "r.(4928g>a)" "p.(Arg1643Gln)" "" "0000441083" "00025350" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(1138c>u)" "p.(Arg380*)" "" "0000441084" "00025350" "90" "0" "" "0" "" "c.?::-50+7703" "r.0?" "p.0?" "1i" "0000441087" "00025350" "90" "0" "" "0" "" "c.-50+7702::?" "r.0?" "p.0?" "1i" "0000441088" "00025350" "90" "3887" "1" "3887" "1" "c.3887+1G>A" "r.spl" "p.?" "26i" "0000441089" "00025350" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(2426c>u)" "p.(Ala809Val)" "" "0000441090" "00025350" "90" "3123" "0" "3123" "0" "c.3123dup" "r.(3123dup)" "p.(Gly1042Argfs*5)" "" "0000441091" "00025350" "90" "3590" "0" "3591" "0" "c.3590_3591del" "r.(3590_3591del)" "p.(Ser1197*)" "" "0000441092" "00025350" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_42_" "0000441093" "00025350" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_42_" "0000441094" "00025350" "90" "-50" "5482" "1270" "2770" "c.(-14456_-50+5482)_(1270+2770_1684)del" "r.?" "p.?" "_1i_6i_" "0000441095" "00025350" "90" "3736" "-519" "6344" "0" "c.(3735+97_3736-519)_(*221_*312)del" "r.?" "p.?" "25i_42" "0000441096" "00025350" "90" "4463" "-61" "5727" "158" "c.(4462+92_4463-61)_(5727+158_5728-349)del" "r.?" "p.?" "30i_39i" "0000441188" "00025350" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_42_" "0000441189" "00025350" "90" "5734" "0" "5734" "0" "c.5734C>T" "r.(5734c>u)" "p.(Gln1912*)" "" "0000441190" "00025350" "90" "4822" "0" "4822" "0" "c.4822C>T" "r.(4822c>u)" "p.(Arg1608*)" "" "0000515003" "00025350" "70" "5944" "0" "5944" "0" "c.5944C>A" "r.(?)" "p.(Pro1982Thr)" "" "0000515004" "00025350" "50" "4914" "6" "4914" "6" "c.4914+6T>C" "r.(=)" "p.(=)" "" "0000515005" "00025350" "30" "4545" "0" "4545" "0" "c.4545G>A" "r.(?)" "p.(Pro1515=)" "" "0000515006" "00025350" "50" "4391" "0" "4391" "0" "c.4391G>T" "r.(?)" "p.(Arg1464Ile)" "" "0000515007" "00025350" "90" "4228" "0" "4231" "0" "c.4228_4231dup" "r.(?)" "p.(Val1411GlyfsTer6)" "" "0000515009" "00025350" "50" "3929" "0" "3929" "0" "c.3929A>G" "r.(?)" "p.(Asn1310Ser)" "" "0000515010" "00025350" "90" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" "p.(Arg1043Ter)" "" "0000515011" "00025350" "50" "2626" "0" "2626" "0" "c.2626C>G" "r.(?)" "p.(Pro876Ala)" "" "0000515012" "00025350" "90" "2505" "0" "2509" "0" "c.2505_2509dup" "r.(?)" "p.(Asp837ValfsTer17)" "" "0000515013" "00025350" "70" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689Ter)" "" "0000515014" "00025350" "30" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Thr641Met)" "" "0000515015" "00025350" "30" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307His)" "" "0000515016" "00025350" "50" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000515017" "00025350" "50" "743" "0" "743" "0" "c.743C>G" "r.(?)" "p.(Ser248Cys)" "" "0000515018" "00025350" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000604478" "00025350" "50" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Ser111Phe)" "" "0000607804" "00025350" "50" "5720" "0" "5720" "0" "c.5720C>T" "r.(?)" "p.(Pro1907Leu)" "" "0000607805" "00025350" "90" "5114" "0" "5118" "0" "c.5114_5118del" "r.(?)" "p.(Leu1705GlnfsTer25)" "" "0000607806" "00025350" "50" "4160" "0" "4162" "0" "c.4160_4162dup" "r.(?)" "p.(Asn1387_Val1388insAsp)" "" "0000607807" "00025350" "50" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414Gln)" "" "0000620985" "00025350" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Val105=)" "" "0000645308" "00025350" "90" "1279" "0" "1279" "0" "c.1279del" "r.1279del" "p.(Ser427Leufs*8)" "" "0000654586" "00025350" "30" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Cys758Tyr)" "" "0000665613" "00025350" "50" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ser153Leu)" "" "0000688682" "00025350" "70" "2917" "3" "2917" "3" "c.2917+3A>G" "r.spl?" "p.?" "" "0000688683" "00025350" "70" "1365" "0" "1368" "0" "c.1365_1368del" "r.(?)" "p.(Ala456GlyfsTer77)" "" "0000688684" "00025350" "50" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" "0000718600" "00025350" "70" "5727" "1" "5727" "1" "c.5727+1G>A" "r.spl?" "p.?" "" "0000718601" "00025350" "50" "4124" "0" "4124" "0" "c.4124A>T" "r.(?)" "p.(Asp1375Val)" "" "0000718602" "00025350" "30" "4056" "0" "4056" "0" "c.4056T>C" "r.(?)" "p.(Val1352=)" "" "0000718603" "00025350" "50" "4028" "0" "4028" "0" "c.4028T>C" "r.(?)" "p.(Val1343Ala)" "" "0000718604" "00025350" "50" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Cys758Tyr)" "" "0000718605" "00025350" "70" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Gln702*)" "" "0000718606" "00025350" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ser227Leu)" "" "0000787108" "00025350" "70" "-1" "0" "3990" "1" "c.(?_-1)_(3990+1_3991-1)dup" "r.?" "p.?" "1i_27i" "0000800465" "00025350" "50" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Cys)" "" "0000800466" "00025350" "50" "1151" "0" "1151" "0" "c.1151T>C" "r.(?)" "p.(Leu384Pro)" "" "0000821650" "00025350" "70" "6015" "0" "6028" "0" "c.6015_6028dup" "r.?" "p.(Tyr2010*)" "" "0000858395" "00025350" "30" "5728" "-3" "5728" "-3" "c.5728-3C>T" "r.spl?" "p.?" "" "0000858396" "00025350" "70" "5555" "0" "5555" "0" "c.5555dup" "r.(?)" "p.(Lys1853Glufs*28)" "" "0000858397" "00025350" "30" "2799" "-10" "2799" "-10" "c.2799-10C>G" "r.(=)" "p.(=)" "" "0000885001" "00025350" "70" "5011" "0" "5011" "0" "c.5011G>A" "r.(?)" "p.(Glu1671Lys)" "" "0000885002" "00025350" "90" "3653" "0" "3656" "0" "c.3653_3656del" "r.(?)" "p.(Tyr1218*)" "" "0000885003" "00025350" "30" "3251" "0" "3251" "0" "c.3251C>T" "r.(?)" "p.(Ser1084Leu)" "" "0000885004" "00025350" "90" "3154" "0" "3154" "0" "c.3154C>T" "r.(?)" "p.(Arg1052*)" "" "0000885006" "00025350" "50" "1769" "0" "1769" "0" "c.1769C>T" "r.(?)" "p.(Ala590Val)" "" "0000885007" "00025350" "50" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Gln473Arg)" "" "0000911629" "00025350" "50" "3292" "0" "3292" "0" "c.3292T>C" "r.(?)" "p.(Trp1098Arg)" "" "0000911630" "00025350" "70" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Arg868*)" "" "0000911631" "00025350" "70" "2497" "-52" "2497" "-39" "c.2497-52_2497-39del" "r.(=)" "p.(=)" "" "0000911632" "00025350" "30" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307His)" "" "0000923651" "00025350" "50" "5326" "0" "5326" "0" "c.5326C>T" "r.(?)" "p.(Arg1776Trp)" "" "0000928552" "00025350" "50" "4916" "0" "4916" "0" "c.4916G>A" "r.(?)" "p.(Arg1639His)" "" "0000928553" "00025350" "30" "1823" "0" "1823" "0" "c.1823C>T" "r.(?)" "p.(Ala608Val)" "" "0000928554" "00025350" "50" "452" "0" "452" "0" "c.452G>T" "r.(?)" "p.(Ser151Ile)" "" "0000975074" "00025350" "50" "3451" "0" "3451" "0" "c.3451C>T" "r.(?)" "p.(Arg1151Cys)" "" "0000975075" "00025350" "50" "2879" "0" "2879" "0" "c.2879A>G" "r.(?)" "p.(Lys960Arg)" "" "0000975076" "00025350" "50" "81" "0" "81" "0" "c.81C>G" "r.(?)" "p.(Asp27Glu)" "" "0000985375" "00025350" "70" "4823" "0" "4823" "0" "c.4823G>A" "r.(?)" "p.(Arg1608Gln)" "33" "0000992628" "00025350" "50" "5857" "0" "5857" "0" "c.5857A>G" "r.(?)" "p.(Ser1953Gly)" "" "0000992629" "00025350" "70" "5613" "5" "5613" "5" "c.5613+5G>A" "r.spl?" "p.?" "" "0000992630" "00025350" "30" "4535" "0" "4535" "0" "c.4535T>G" "r.(?)" "p.(Phe1512Cys)" "" "0000992631" "00025350" "30" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Ala1173Thr)" "" "0000992632" "00025350" "50" "2889" "0" "2889" "0" "c.2889T>G" "r.(?)" "p.(Asp963Glu)" "" "0000992633" "00025350" "30" "2740" "0" "2740" "0" "c.2740A>G" "r.(?)" "p.(Ile914Val)" "" "0000992634" "00025350" "50" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Cys758Tyr)" "" "0000992635" "00025350" "30" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Thr745Met)" "" "0000992636" "00025350" "30" "2093" "0" "2093" "0" "c.2093C>T" "r.(?)" "p.(Thr698Ile)" "" "0000992637" "00025350" "30" "1520" "0" "1520" "0" "c.1520T>C" "r.(?)" "p.(Ile507Thr)" "" "0000992638" "00025350" "70" "612" "0" "612" "0" "c.612del" "r.(?)" "p.(Ser205Leufs*47)" "" "0000992639" "00025350" "30" "120" "0" "120" "0" "c.120A>C" "r.(?)" "p.(Lys40Asn)" "" "0000992640" "00025350" "30" "88" "0" "88" "0" "c.88A>G" "r.(?)" "p.(Ile30Val)" "" "0000992641" "00025350" "30" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Asn3Ser)" "" "0001024554" "00025350" "30" "5728" "-4" "5728" "-4" "c.5728-4dup" "r.spl?" "p.?" "" "0001033079" "00025350" "30" "5823" "-4" "5823" "-4" "c.5823-4A>G" "r.spl?" "p.?" "" "0001033080" "00025350" "50" "5284" "0" "5284" "0" "c.5284G>A" "r.(?)" "p.(Val1762Met)" "" "0001033081" "00025350" "30" "3449" "0" "3449" "0" "c.3449A>G" "r.(?)" "p.(Glu1150Gly)" "" "0001033082" "00025350" "30" "2569" "667" "2569" "667" "c.2569+667C>T" "r.(=)" "p.(=)" "" "0001033083" "00025350" "30" "1987" "-210" "1987" "-209" "c.1987-210_1987-209del" "r.(=)" "p.(=)" "" "0001033084" "00025350" "30" "1451" "-6" "1451" "-5" "c.1451-6_1451-5dup" "r.spl?" "p.?" "" "0001033085" "00025350" "50" "1270" "39" "1270" "39" "c.1270+39C>G" "r.(=)" "p.(=)" "" "0001033086" "00025350" "30" "1270" "22" "1270" "22" "c.1270+22T>G" "r.(=)" "p.(=)" "" "0001033087" "00025350" "30" "99" "-2515" "99" "-2515" "c.99-2515C>T" "r.(=)" "p.(=)" "" "0001033088" "00025350" "30" "-49" "-18583" "-49" "-18583" "c.-49-18583T>C" "r.(=)" "p.(=)" "" "0001051114" "00025350" "30" "5613" "4" "5613" "4" "c.5613+4T>C" "r.spl?" "p.?" "" "0001051115" "00025350" "50" "3887" "164" "3887" "164" "c.3887+164T>C" "r.(=)" "p.(=)" "" "0001051116" "00025350" "50" "3887" "152" "3887" "152" "c.3887+152T>G" "r.(=)" "p.(=)" "" "0001051117" "00025350" "50" "1128" "0" "1128" "0" "c.1128T>G" "r.(?)" "p.(Ser376Arg)" "" "0001051118" "00025350" "30" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Lys51Arg)" "" "0001062840" "00025350" "90" "399" "0" "399" "0" "c.399dup" "r.(399dup)" "p.(Pro134Thrfs*8)" "4" "0001063804" "00025350" "50" "5353" "0" "5353" "0" "c.5353G>A" "r.(?)" "p.(Asp1785Asn)" "" "0001063805" "00025350" "50" "3887" "152" "3887" "164" "c.3887+152_3887+164delinsGCAAATGCTTTCC" "r.(=)" "p.(=)" "" "0001063806" "00025350" "30" "3543" "10" "3543" "10" "c.3543+10C>A" "r.(=)" "p.(=)" "" "0001063807" "00025350" "90" "2355" "0" "2355" "0" "c.2355T>A" "r.(?)" "p.(Cys785*)" "" "0001063808" "00025350" "50" "2140" "0" "2140" "0" "c.2140G>C" "r.(?)" "p.(Gly714Arg)" "" "0001063809" "00025350" "30" "225" "-11" "225" "-11" "c.225-11T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000145471" "0000237843" "0000175276" "0000395147" "0000182171" "0000406048" "0000209944" "0000441074" "0000209945" "0000441075" "0000209946" "0000441076" "0000209947" "0000441077" "0000209948" "0000441078" "0000209949" "0000441079" "0000209950" "0000441084" "0000209950" "0000441087" "0000209951" "0000441080" "0000209952" "0000441081" "0000209953" "0000441082" "0000209954" "0000441083" "0000209955" "0000441096" "0000209956" "0000441095" "0000209957" "0000441094" "0000209958" "0000441093" "0000209959" "0000441092" "0000209960" "0000441091" "0000209961" "0000441090" "0000209962" "0000441089" "0000209963" "0000441088" "0000210037" "0000441188" "0000210038" "0000441189" "0000210039" "0000441190" "0000270691" "0000604478" "0000289379" "0000645308" "0000302380" "0000665613" "0000375757" "0000787108" "0000391724" "0000821650" "0000451471" "0000985375" "0000473889" "0001062840"